Neuropädiatrie
Forschungsschwerpunkte
Die Abteilung für Neuropädiatrie beschäftigt sich neben der routinediagnostischen Analyse der Muskulatur von Patienten auch mit der Erforschung der molekularen Ursachen der jeweiligen Krankheitsbilder. Dazu zählen die Identifikation neuer Gene, sowie die Analyse der biochemischen Ursachen neurodegenerativer und muskulärer Erkrankungen.
Im Rahmen eines durch die EU und die Landesregierung NRW geförderten Projekts zur translationalen biomedizinischen Forschung werden molekulargenetische und proteomische sowie bildgebende Informationen intersektiert und korreliert um zukünftig das diagnostische Prozedere neuromuskulärer Krankheitsbilder zu verbessern und einheitliche pathophysiologische Kaskaden zu demaskieren. Weitere Forschungsinteressen des Muskellabors liegen auf der Identifikation von Biomarkern für neuromuskuläre Erkrankungen mit einem ausgesprochenen Fokus auf die Muskeldystrophie Typ Duchenne (DMD) sowie die Myotone Dystrophie Typ1 (DM1) und auf der Identifikation von Markern in der Pathophysiologie entzündlicher neuromuskulärer Erkrankungen (im Kindes- und Jugendalter).
Die Forschungsaktivitäten des neuromuskulären Labors werden durch Herrn PD Dr. rer. nat. Andreas Roos und Frau Prof. Dr. med. Ulrike Schara geleitet.
Im Rahmen von translationalen Prozessen ist das neuromuskuläre Labor Bestandteil zahlreicher nationaler und internationaler Studien (https://clinicaltrials.gov/) sowie an übergreifenden nationalen und internationalen Studien zur Genotyp-Phänotyp Korrelationen beteiligt.
Ansprechpartnerin
Univ.-Prof. Dr. med.
Ulrike Schara-Schmidt
Ltd. Ärztin Abteilung Neuropädiatrie
Translationale Forschung
Gen und Protein-Signaturen als GPS für Patienten mit Neuromuskulären Erkrankungen
„NME-GPS“ (Gen und Protein-Signaturen als GPS für Patienten mit Neuromuskulären Erkrankungen) ist ein multizentrisches, interdisziplinäres und Drittmittel-gefördertes (Leitmarktwettbewerb – LifeScience.NRW/ EFRE.NRW & Europäische Union) Forschungsprojekt. Dieses zielt darauf ab, zukünftig das diagnostische Prozedere bei Patienten mit neuromuskulären Erkrankungen zu verbessern. Dazu sollen biochemische und bildgebende Daten (beide werden unter Verwendung von Muskelbiopsien von Patienten mit neuromuskulären Erkrankungen erhoben) mit den Ergebnissen der Analysen des Erbguts (Untersuchung aller kodierenden DNA-Regionen) korreliert werden. Diese Korrelationsstudien dienen dazu, zukünftig mittels alternativer Messmethoden (Protoemics) unter Verwendung einer minimalsten Menge an Probenmaterial (Muskelbiopsie) möglichst alle bekannten Proteine, die mit einer Ausprägung einer erblich-bedingten Muskelerkrankung in Verbindung gebracht wurden, zu quantifizieren. Somit soll ein breites und optimiertes diagnostisches Spektrum zukünftig für Patienten zur Verfügung stehen und angeboten werden können. Dies beinhaltet auch die Identifikation neuer krankheitsrelevanter Gene. Zudem sollen die Resultate der kombinierten Analysen dazu dienen, einheitliche Krankheitsmechanismen zu identifizieren, die zukünftig als Ansatzpunkte für therapeutische Konzepte dienen könnten.
NMD-GPS
Neuromuskuläres Labor
Bei Verdacht auf eine neuromuskuläre Erkrankung wird dem Patienten oft Muskelgewebe entnommen. Im Neuromuskulären Labor werden diese Proben aufgearbeitet. Hierfür stehen neben sämtlichen Methoden zur Histologie, Enzymhistologie und Enzymhistochemie auch Immunfluoreszenz-Untersuchungen und Western-Blot-Analysen zur Verfügung. Spezielle biochemische Fragestellungen bzw. elektromikroskopische Untersuchungen werden in engen Kooperationen mit Speziallaboratorien durchgeführt.
Die Ambulanz für neuromuskuläre Erkrankungen als Spezialsprechstunde im Sozialpädiatrischen Zentrum und das Neuromuskuläre Labor sind als Einheit im Rahmen des Muskelzentrums Nordrhein organisiert. Muskelzentren sind offiziell vom Dachverband der Deutschen Gesellschaft für Muskelkranke e.V. (DGM www.dgm.org) Deutschland anerkannt.
Für die Verarbeitung des Muskelgewebes und Vorbereitung für die weiteren Untersuchungen im Labor steht die Medizinisch-technische Assistentin Frau Hertel zur Verfügung.
Swantje Hertel
MTA
Team
Univ.-Prof. Dr. med.
Ulrike Schara-Schmidt
Ltd. Ärztin Abteilung Neuropädiatrie
Adjunct Professor (University of Ottawa) Dr. PD rer. nat.
Andreas Roos
Forschungskoordinator
Swantje Hertel
MTA
Elisa Holla
Bachelor Studentin medizinische Biologie
Calvin Tucht
MTA
Klinische Studien
- EMBARK SRP-9001-301 Eudra CT 2019-003374-91
A Multinational, Randomized, Double-Blind, Placebo-Controlled Systemic Gene Delivery Study to Evaluate the Safety, Tolerability, and Efficacy of SRP-9001 in Subjects With Duchenne Muscular Dystrophy Who Are Aged 4-7 Years - MISSION SRP 4658-402 EudraCT 2018-001762-42
A Randomized, Double-Blind, Dose Finding and Comparison Study of the Safety and Efficacy of a High Dose of Eteplirsen, Preceded by an Open-Label Dose Escalation, in Patients with Duchenne Muscular Dystrophy With Deletion Mutations Amenable to Exon 51 Skipping - MOMENTUM SRP 5051-201 EudraCT: 2019-000601-77
A Phase 2, Two-Part, Multiple-Ascending-Dose Study of SRP-5051 for Dose Determination, then Dose Expansion, in Patients with Duchenne Muscular Dystrophy Amenable to Exon 51-Skipping Treatment - ESSENCE SRP 4045-301 EUDRA CT NUMMER:2015-002069 5
A Double-Blind, Placebo- Controlled, Multi-Center Study With an Open-Label Extension to Evaluate the Efficacy and Safety of SRP-4045 and SRP-4053 in Patients With Duchenne Muscular Dystrophy – Study of SRP-4045 and SRP-4053 in DMD Patients - SRP 4045-302 EUDRACT Number: 2017-004625-32
Open-label Extension Study for Patients with Duchenne Muscular Dystrophy Enrolled in Clinical Trials Evaluating Casimersen or Golodirsen - DSC/142357/51 EUDRACT: 2017-000397-10
Open label, long-term safety, tolerability, and efficacy study of GIVINOSTAT in all DMD patients who have been previously treated in one of the GIVINOSTAT studies. - PTC PASS
Long-Term Observational Study of Translarna Safety and Effectiveness in Usual Care (Anwendungsbeobachtungsstudie PTC124-GD-025o-DMD)
- Biogen 232SM303 ASCEND EUDRA CT NUMBER: 2021-001294-23
A Phase 3b Study to Evaluate Higher Dose Nusinersen (BIIB058) in Patients with Spinal Muscular Atrophy Previously Treated with Risdiplam - Sapphire – SRK-015-003 EudraCT Number: 2021-005314-34
Phase 3, Double-Blind, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of Apitegromab (SRK-015) in Patients with Later-Onset Spinal Muscular Atrophy Receiving Background Nusinersen or Risdiplam Therapy - SHINE ISIS 396443-CS11 EudraCT No: 2015-001870-16
An Open-label Extension Study for Patients with Spinal Muscular Atrophy who Previously Participated in Investigational Studies of ISIS 396443
- ARGX-113-2006 EudraCT: 2020-005841-18
Open-label Uncontrolled Trial to Evaluate Pharmacokinetics, Pharmacodynamics, Safety, and Activity of Efgartigimod in Children From 2 to Less Than 18 Years of Age With Generalized Myasthenia Gravis
- SRP-LGMD-501-NH
Journey: A Global, Multicenter, Longitudinal Study of the Natural History of Subjects with Limb Girdle Muscular Dystrophy (LGMD) Type 2E (LGMD2E/R4), Type 2D (LGMD2D/R3), and Type 2C (LGMD2C/R5)
In Vorbereitung:
- PFIZER C3391003 Eudra CT 2019-002921-31
A phase 3, multicenter, randomized, double-blind, placebo-controlled study to evaluate the safety and efficacy of PF-06939926 for the treatment of Duchenne Muscular Dystrophy - BN 43881 Envol EudraCT 2022-000691-19
A TWO-PART, OPEN-LABEL SYSTEMIC GENE DELIVERY STUDY TO EVALUATE THE SAFETY AND EXPRESSION OF RO7494222 (SRP-9001) IN SUBJECTS UNDER THE AGE OF FOUR WITH DUCHENNE MUSCULAR DYSTROPHY - SRP 9001-303 Envison EudraCT 2020-002372-13
A Phase 3, Multinational, Randomized, Double-Blind, Placebo-Controlled Systemic Gene Transfer Therapy Study to Evaluate the Safety and Efficacy of SRP9001 in Non-Ambulatory and Ambulatory Subjects With Duchenne Muscular Dystrophy
- MLB-01-005 LGMD IND Number: 145713
Protocol Title: A Phase 3 Randomized, Placebo-controlled, Double-blind Study to Evaluate the Efficacy and Safety of BBP-418 (ribitol) in Patients with Limb Girdle Muscular Dystrophy 2I (LGMD2I)
- BN 42644 Manatee 2021-003417-19
A TWO-PART, SEAMLESS, MULTI-CENTER, RANDOMIZED, PLACEBO-CONTROLLED, DOUBLE-BLIND STUDY TO INVESTIGATE THE SAFETY, TOLERABILITY, PHARMACOKINETICS, PHARMACODYNAMICS AND EFFICACY OF RO7204239 IN COMBINATION WITH RISDIPLAM (RO7034067) IN AMBULANT PATIENTS WITH SPINAL MUSCULAR ATROPHY - BHV-200-301 RESILIENT Eudra CT 2022-000193-25
A Randomized, Double-Blind, PlaceboControlled, Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Ambulatory and Non-Ambulatory Participants with Spinal Muscular Atrophy with Open-Label Extension
Publikationen
- The Clinical Development of Taldefgrobep Alfa: An Anti-Myostatin Adnectin for the Treatment of Duchenne Muscular Dystrophy Francesco Muntoni, Barry J. Byrne, Hugh J. McMillan, Monique M. Ryan, Brenda L. Wong, Juergen Dukart, Amita Bansal, Valerie Cosson, Roxana Dreghici, Maitea Guridi, Michael Rabbia, Hannah Staunton, Giridhar S. Tirucherai, Karl Yen, Xiling Yuan, Kathryn R. Wagner on behalf of the Taldefgrobep Alfa Study Group
- A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy
- Andrea Gangfuß, Philipp Rating, Tomas Ferreira, Andreas Hentschel, Adela Della Marina, Heike Kölbel, Albert Sickmann, Angela Abicht, Florian Kraft, Tobias Ruck, Johann Böhm, Anne Schänzer, Ulrike Schara-Schmidt, Teresa M Neuhann, Rita Horvath, Andreas Roos
- Deep RNA sequencing of muscle tissue reveals absence of viral signatures in dermatomyositis Victor M Corman, Corinna Preusse, Julia Melchert, Olivier Benveniste, Randi Koll, Hans-Hilmar Goebel, Terry C Jones, Christian Drosten, Ulrike Schara-Schmidt, Sarah Leonard-Louis, Werner Stenzel, Josefine Radke
- Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study René Günther, Claudia Diana Wurster, Svenja Brakemeier, Alma Osmanovic, Olivia Schreiber-Katz, Susanne Petri, Zeljko Uzelac, Miriam Hiebeler, Simone Thiele, Maggie C Walter, Markus Weiler, Tobias Kessler, Maren Freigang, Hanna Sophie Lapp, Isabell Cordts, Paul Lingor, Marcus Deschauer, Andreas Hahn, Kyriakos Martakis, Robert Steinbach, Benjamin Ilse, Annekathrin Rödiger, Julia Bellut, Julia Nentwich, Daniel Zeller, Mohamad Tareq Muhandes, Tobias Baum, Jan Christoph Koch, Bertold Schrank, Sophie Fischer, Andreas Hermann, Christoph Kamm, Steffen Naegel, Alexander Mensch, Markus Weber, Christoph Neuwirth, Helmar C Lehmann, Gilbert Wunderlich, Christian Stadler, Maike Tomforde, Annette George, Martin Groß, Astrid Pechmann, Janbernd Kirschner, Matthias Türk, Mareike Schimmel, Günther Bernert, Pascal Martin, Christian Rauscher, Gerd Meyer Zu Hörste, Petra Baum, Wolfgang Löscher, Marina Flotats-Bastardas, Cornelia Köhler, Kristina Probst-Schendzielorz, Susanne Goldbach, Ulrike Schara-Schmidt, Wolfgang Müller-Felber, Hanns Lochmüller, Otgonzul von Velsen; SMArtCARE Study Group; Christoph Kleinschnitz, Albert C Ludolph, Tim Hagenacker
- Complement and MHC patterns can provide the diagnostic framework for inflammatory neuromuscular diseases Christopher Nelke, Simone Schmid, Felix Kleefeld, Christina B. Schroeter, Hans-Hilmar Goebel, Sarah Hoffmann, Corinna Preuße, Heike Kölbel, Sven G. Meuth, Tobias Ruck & Werner Stenzel
- Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2
- Felix Kleefeld, Rita Horvath, Iago Pinal-Fernandez, Andrew L. Mammen, Maria Casal-Dominguez, Denisa Hathazi, Sarah Melchert, Katrin Hahn, Albert Sickmann, Claudia Muselmann-Genschow, Andreas Hentschel, Corinna Preuße, Andreas Roos, Benedikt Schoser & Werner Stenzel
- Causes of death after first time venous thromboembolism Frida Lonnberg, Andreas Roos, Maria Farm, André Heurlin, Mantas Okas, Bruna Gigante , Anwar J Siddiqui
- European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17-19, 2023, Barcelona, Spain Hubert Smeets, Bram Verbrugge, Xavier Bulbena, Liliya Hristova, Julia Vogt, Isabelle van Beckhoven; all participants; Patient organizations/patient representatives: LAMA2-Europe, Voor Sara-the Netherlands, ImpulsaT-Spain, LAMA2-France, CMD-Turkey, LAMA2-Bulgaria, Cure-CMD
- Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series
- Alessia Pugliese, Adela Della Marina, Eduardo de Paula Estephan, Edmar Zanoteli, Andreas Roos, Ulrike Schara-Schmidt, Andreas Hentschel, Yoshiteru Azuma, Ana Töpf, Rachel Thompson, Kiran Polavarapu, Hanns Lochmüller
- Novel Genetic and Biochemical Insights into the Spectrum of NEFL
- Associated Phenotypes
- Adela Della Marina, Andreas Hentschel, Artur Czech, Ulrike Schara-Schmidt, Corinna Preusse, Andreas Laner, Angela Abicht, Tobias Ruck, Joachim Weis, Catherine Choueiri, Hanns Lochmüller, Heike Kölbel, Andreas Roos
- Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy
- Andreas Roos, Linda-Isabell Schmitt, Christina Hansmann, Stefanie Hezel, Schahin Salmanian, Andreas Hentschel, Nancy Meyer, Adela Della Marina, Heike Kölbel, Christoph Kleinschnitz, Ulrike Schara-Schmidt, Markus Leo, Tim Hagenacker
- Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia
- Felix Distelmaier, Abdullah Sezer, Christina Helm, Stephan Waldmüller, Annette Seibt, Andrea Gangfuß, Heike Kölbel, Ulrike Schara-Schmidt, Deniz Yuksel, Beril Talim, Ertan Mayatepek, Stefan Nikolin, Joachim Weis, Andreas Roos, Tobias B Haack
- Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers
- Mohammed Athamneh, Nassam Daya, Andreas Hentschel, Andrea Gangfuss, Tobias Ruck, Adela Della Marina, Ulrike Schara-Schmidt, Albert Sickmann, Anne-Katrin Güttsches, Marcus Deschauer, Corinna Preusse, Matthias Vorgerd, Andreas Roos
- Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
- Eugenio Mercuri, Juan J Vilchez, Odile Boespflug-Tanguy, Craig M Zaidman, Jean K Mah, Nathalie Goemans, Wolfgang Müller-Felber, Erik H Niks, Ulrike Schara-Schmidt, Enrico Bertini, Giacomo P Comi, Katherine D Mathews, Laurent Servais, Krista Vandenborne, Jessika Johannsen, Sonia Messina, Stefan Spinty, Laura McAdam, Kathryn Selby, Barry Byrne, Chamindra G Laverty, Kevin Carroll, Giulia Zardi, Sara Cazzaniga, Nicoletta Coceani, Paolo Bettica, Craig M McDonald; EPIDYS Study Group
- Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial
- Oliver Schwartz, Katharina Vill, Michelle Pfaffenlehner, Max Behrens, Claudia Weiß, Jessika Johannsen, Johannes Friese, Andreas Hahn, Andreas Ziegler, Sabine Illsinger, Martin Smitka, Arpad von Moers, Heike Kölbel, Gudrun Schreiber, Nadja Kaiser, Ekkehard Wilichowski, Marina Flotats-Bastardas, Ralf A Husain, Matthias Baumann, Cornelia Köhler, Regina Trollmann, Annette Schwerin-Nagel, Astrid Eisenkölbl, Mareike Schimmel, Martin Fleger, Birgit Kauffmann, Gert Wiegand, Manuela Baumgartner, Christian Rauscher, Sebahattin Cirak, Dieter Gläser, Günther Bernert, Tim Hagenacker, Susanne Goldbach, Kristina Probst-Schendzielorz, Hanns Lochmüller, Wolfgang Müller-Felber, Ulrike Schara-Schmidt, Maggie C Walter, Janbernd Kirschner, Astrid Pechmann; SMARTCARE study group
- 5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2
- Katharina Vill, Moritz Tacke, Anna König, Matthias Baumann, Manuela Baumgartner, Meike Steinbach, Guenther Bernert, Astrid Blaschek, Marcus Deschauer, Marina Flotats-Bastardas, Johannes Friese, Susanne Goldbach, Martin Gross, René Günther, Andreas Hahn, Tim Hagenacker, Erwin Hauser, Veronka Horber, Sabine Illsinger, Jessika Johannsen, Christoph Kamm, Jan C Koch, Heike Koelbel, Cornelia Koehler, Kirsten Kolzter, Hanns Lochmüller, Albert Ludolph, Alexander Mensch, Gerd Meyer Zu Hoerste, Monika Mueller, Wolfgang Mueller-Felber, Christoph Neuwirth, Susanne Petri, Kristina Probst-Schendzielorz, Manuel Pühringer, Robert Steinbach, Ulrike Schara-Schmidt, Mareike Schimmel, Bertold Schrank, Oliver Schwartz, Kurt Schlachter, Annette Schwerin-Nagel, Gudrun Schreiber, Martin Smitka, Raffi Topakian, Regina Trollmann, Matthias Tuerk, Manuela Theophil, Christian Rauscher, Mathias Vorgerd, Maggie C Walter, Markus Weiler, Claudia Weiss, Ekkehard Wilichowski, Claudia D Wurster, Gilbert Wunderlich, Daniel Zeller, Andreas Ziegler 58, Janbernd Kirschner, Astrid Pechmann; SMArtCARE study group
- Genetic landscape of pediatric acute liver failure of indeterminate origin
- Dominic Lenz, Lea D Schlieben, Masaru Shimura, Alyssa Bianzano, Dmitrii Smirnov, Robert Kopajtich, Riccardo Berutti, Rüdiger Adam, Denise Aldrian, Ivo Baric, Ulrich Baumann, Neslihan E Bozbulut, Melanie Brugger, Theresa Brunet, Philip Bufler, Birutė Burnytė, Pier L Calvo, Ellen Crushell, Buket Dalgiç, Anibh M Das, Antal Dezsőfi, Felix Distelmaier, Alexander Fichtner, Peter Freisinger, Sven F Garbade, Harald Gaspar, Louise Goujon, Nedim Hadzic, Steffen Hartleif, Bianca Hegen, Maja Hempel, Stephan Henning, Andre Hoerning, Roderick Houwen, Joanne Hughes, Raffaele Iorio, Katarzyna Iwanicka-Pronicka, Martin Jankofsky, Norman Junge, Ino Kanavaki, Aydan Kansu, Sonja Kaspar, Simone Kathemann, Deidre Kelly, Ceyda T Kirsaçlioğlu, Birgit Knoppke, Martina Kohl, Heike Kölbel, Stefan Kölker, Vassiliki Konstantopoulou, Tatiana Krylova, Zarife Kuloğlu, Alice Kuster, Martin W Laass, Elke Lainka, Eberhard Lurz, Hanna Mandel, Katharina Mayerhanser, Johannes A Mayr, Patrick McKiernan, Patricia McClean, Valerie McLin, Karine Mention, Hanna Müller, Laurent Pasquier, Martin Pavlov, Natalia Pechatnikova, Bianca Peters, Danijela Petković Ramadža, Dorota Piekutowska-Abramczuk, Denisa Pilic, Sanjay Rajwal, Nathalie Rock, Agnès Roetig, René Santer, Wilfried Schenk, Natalia Semenova, Christiane Sokollik, Ekkehard Sturm, Robert W Taylor, Eva Tschiedel, Vaidotas Urbonas, Roser Urreizti, Jan Vermehren, Jerry Vockley, Georg-Friedrich Vogel, Matias Wagner, Wendy van der Woerd, Saskia B Wortmann, Ekaterina Zakharova, Georg F Hoffmann, Thomas Meitinger, Kei Murayama, Christian Staufner, Holger Prokisch
- Pediatric Community-Acquired Brain Abscesses: A Single-center Retrospective Study
- Kevin Hai-Ning Lu, Nora Bruns, Christina Pentek, Adela Della Marina, Andrea Gangfuß, Heike Kölbel, Burcin Dogan, Jan Dziobaka, Yahya Ahmadipour, Philipp Damman, Ursula Felderhoff-Müser, Christian Dohna-Schwake, Sarah Christina Goretzki
- Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome
- Ina Kirchberg, Elke Lainka, Andrea Gangfuß, Alma Kuechler, Fabian Baertling, Lea D Schlieben, Dominic Lenz, Eva Tschiedel
- Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease
- Catarina Olimpio, Ida Paramonov, Leslie Matalonga, Steven Laurie, Katherine Schon, Kiran Polavarapu, Janbernd Kirschner, Ulrike Schara-Schmidt, Hanns Lochmüller, Patrick F Chinnery, Rita Horvath
- Inter-alpha-trypsin inhibitor heavy chain H3 is a potential biomarker for disease activity in myasthenia gravis
- Christina B Schroeter, Christopher Nelke, Frauke Stascheit, Niklas Huntemann, Corinna Preusse, Vera Dobelmann, Lukas Theissen, Marc Pawlitzki, Saskia Räuber, Alice Willison, Anna Vogelsang, Adela Della Marina, Hans-Peter Hartung, Nico Melzer, Felix F Konen, Thomas Skripuletz, Andreas Hentschel , Simone König, Michaela Schweizer, Kai Stühler, Gereon Poschmann, Andreas Roos, Werner Stenzel, Andreas Meisel, Sven G Meuth, Tobias Ruck
- Identification of disease phenotypes in acetylcholine receptor-antibody myasthenia gravis using proteomics-based consensus clustering
- Christopher Nelke, Christina B Schroeter, Sumanta Barman, Frauke Stascheit, Lars Masanneck, Lukas Theissen, Niklas Huntemann, Sara Walli, Derya Cengiz, Vera Dobelmann, Anna Vogelsang, Marc Pawlitzki, Saskia Räuber, Felix F Konen, Thomas Skripuletz, Hans-Peter Hartung, Simone König, Andreas Roos, Andreas Meisel, Sven G Meuth, Tobias Ruck
- Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study
- Valentina De Giorgis, Kailash P Bhatia, Odile Boespflug-Tanguy, Domitille Gras, Adela Della Marina, Archana Desurkar, Manuel Toledo, Ian Miller 7, Michael Rotstein, Susanne A Schneider, Daniel C Tarquinio, Yvonne Weber, Melanie Brandabur, Jill Mayhew, Tony Koutsoukos, Darryl C De Vivo
- Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series
Alessia Pugliese, Adela Della Marina, Eduardo de Paula Estephan, Edmar Zanoteli, Andreas Roos, Ulrike Schara-Schmidt, Andreas Hentschel, Yoshiteru Azuma, Ana Töpf, Rachel Thompson, Kiran Polavarapu, Hanns Lochmüller - Novel Genetic and Biochemical Insights into the Spectrum of NEFL Associated Phenotypes
Adela Della Marina, Andreas Hentschel, Artur Czech, Ulrike Schara-Schmidt, Corinna Preusse, Andreas Laner, Angela Abicht, Tobias Ruck, Joachim Weis, Catherine Choueiri, Hanns Lochmüller, Heike Kölbel, Andreas Roos - Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy
Andreas Roos, Linda-Isabell Schmitt, Christina Hansmann, Stefanie Hezel, Schahin Salmanian, Andreas Hentschel, Nancy Meyer, Adela Della Marina, Heike Kölbel, Christoph Kleinschnitz, Ulrike Schara-Schmidt, Markus Leo, Tim Hagenacker - Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia
Felix Distelmaier, Abdullah Sezer, Christina Helm, Stephan Waldmüller, Annette Seibt, Andrea Gangfuß, Heike Kölbel, Ulrike Schara-Schmidt, Deniz Yuksel, Beril Talim, Ertan Mayatepek, Stefan Nikolin, Joachim Weis, Andreas Roos, Tobias B Haack - Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers
Mohammed Athamneh, Nassam Daya, Andreas Hentschel, Andrea Gangfuss, Tobias Ruck, Adela Della Marina, Ulrike Schara-Schmidt, Albert Sickmann, Anne-Katrin Güttsches, Marcus Deschauer, Corinna Preusse, Matthias Vorgerd, Andreas Roos - Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
Eugenio Mercuri, Juan J Vilchez, Odile Boespflug-Tanguy, Craig M Zaidman, Jean K Mah, Nathalie Goemans, Wolfgang Müller-Felber, Erik H Niks, Ulrike Schara-Schmidt, Enrico Bertini, Giacomo P Comi, Katherine D Mathews, Laurent Servais, Krista Vandenborne, Jessika Johannsen, Sonia Messina, Stefan Spinty, Laura McAdam, Kathryn Selby, Barry Byrne, Chamindra G Laverty, Kevin Carroll, Giulia Zardi, Sara Cazzaniga, Nicoletta Coceani, Paolo Bettica, Craig M McDonald; EPIDYS Study Group - Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial
Oliver Schwartz, Katharina Vill, Michelle Pfaffenlehner, Max Behrens, Claudia Weiß, Jessika Johannsen, Johannes Friese, Andreas Hahn, Andreas Ziegler, Sabine Illsinger, Martin Smitka, Arpad von Moers, Heike Kölbel, Gudrun Schreiber, Nadja Kaiser, Ekkehard Wilichowski, Marina Flotats-Bastardas, Ralf A Husain, Matthias Baumann, Cornelia Köhler, Regina Trollmann, Annette Schwerin-Nagel, Astrid Eisenkölbl, Mareike Schimmel, Martin Fleger, Birgit Kauffmann, Gert Wiegand, Manuela Baumgartner, Christian Rauscher, Sebahattin Cirak, Dieter Gläser, Günther Bernert, Tim Hagenacker, Susanne Goldbach, Kristina Probst-Schendzielorz, Hanns Lochmüller, Wolfgang Müller-Felber, Ulrike Schara-Schmidt, Maggie C Walter, Janbernd Kirschner, Astrid Pechmann; SMARTCARE study group - 5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2
Katharina Vill, Moritz Tacke, Anna König, Matthias Baumann, Manuela Baumgartner, Meike Steinbach, Guenther Bernert, Astrid Blaschek, Marcus Deschauer, Marina Flotats-Bastardas, Johannes Friese, Susanne Goldbach, Martin Gross, René Günther, Andreas Hahn, Tim Hagenacker, Erwin Hauser, Veronka Horber, Sabine Illsinger, Jessika Johannsen, Christoph Kamm, Jan C Koch, Heike Koelbel, Cornelia Koehler, Kirsten Kolzter, Hanns Lochmüller, Albert Ludolph, Alexander Mensch, Gerd Meyer Zu Hoerste, Monika Mueller, Wolfgang Mueller-Felber, Christoph Neuwirth, Susanne Petri, Kristina Probst-Schendzielorz, Manuel Pühringer, Robert Steinbach, Ulrike Schara-Schmidt, Mareike Schimmel, Bertold Schrank, Oliver Schwartz, Kurt Schlachter, Annette Schwerin-Nagel, Gudrun Schreiber, Martin Smitka, Raffi Topakian, Regina Trollmann, Matthias Tuerk, Manuela Theophil, Christian Rauscher, Mathias Vorgerd, Maggie C Walter, Markus Weiler, Claudia Weiss, Ekkehard Wilichowski, Claudia D Wurster, Gilbert Wunderlich, Daniel Zeller, Andreas Ziegler 58, Janbernd Kirschner, Astrid Pechmann; SMArtCARE study group - Genetic landscape of pediatric acute liver failure of indeterminate origin
Dominic Lenz, Lea D Schlieben, Masaru Shimura, Alyssa Bianzano, Dmitrii Smirnov, Robert Kopajtich, Riccardo Berutti, Rüdiger Adam, Denise Aldrian, Ivo Baric, Ulrich Baumann, Neslihan E Bozbulut, Melanie Brugger, Theresa Brunet, Philip Bufler, Birutė Burnytė, Pier L Calvo, Ellen Crushell, Buket Dalgiç, Anibh M Das, Antal Dezsőfi, Felix Distelmaier, Alexander Fichtner, Peter Freisinger, Sven F Garbade, Harald Gaspar, Louise Goujon, Nedim Hadzic, Steffen Hartleif, Bianca Hegen, Maja Hempel, Stephan Henning, Andre Hoerning, Roderick Houwen, Joanne Hughes, Raffaele Iorio, Katarzyna Iwanicka-Pronicka, Martin Jankofsky, Norman Junge, Ino Kanavaki, Aydan Kansu, Sonja Kaspar, Simone Kathemann, Deidre Kelly, Ceyda T Kirsaçlioğlu, Birgit Knoppke, Martina Kohl, Heike Kölbel, Stefan Kölker, Vassiliki Konstantopoulou, Tatiana Krylova, Zarife Kuloğlu, Alice Kuster, Martin W Laass, Elke Lainka, Eberhard Lurz, Hanna Mandel, Katharina Mayerhanser, Johannes A Mayr, Patrick McKiernan, Patricia McClean, Valerie McLin, Karine Mention, Hanna Müller, Laurent Pasquier, Martin Pavlov, Natalia Pechatnikova, Bianca Peters, Danijela Petković Ramadža, Dorota Piekutowska-Abramczuk, Denisa Pilic, Sanjay Rajwal, Nathalie Rock, Agnès Roetig, René Santer, Wilfried Schenk, Natalia Semenova, Christiane Sokollik, Ekkehard Sturm, Robert W Taylor, Eva Tschiedel, Vaidotas Urbonas, Roser Urreizti, Jan Vermehren, Jerry Vockley, Georg-Friedrich Vogel, Matias Wagner, Wendy van der Woerd, Saskia B Wortmann, Ekaterina Zakharova, Georg F Hoffmann, Thomas Meitinger, Kei Murayama, Christian Staufner, Holger Prokisch - Pediatric Community-Acquired Brain Abscesses: A Single-center Retrospective Study
Kevin Hai-Ning Lu, Nora Bruns, Christina Pentek, Adela Della Marina, Andrea Gangfuß, Heike Kölbel, Burcin Dogan, Jan Dziobaka, Yahya Ahmadipour, Philipp Damman, Ursula Felderhoff-Müser, Christian Dohna-Schwake, Sarah Christina Goretzki - Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome
Ina Kirchberg, Elke Lainka, Andrea Gangfuß, Alma Kuechler, Fabian Baertling, Lea D Schlieben, Dominic Lenz, Eva Tschiedel
- Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy Astrid Pechmann, Max Behrens, Katharina Dörnbrack, Adrian Tassoni, Sabine Stein, Sibylle Vogt, Daniela Zöller, Günther Bernert, Tim Hagenacker, Ulrike Schara-Schmidt, Inge Schwersenz, Maggie C Walter, Matthias Baumann, Manuela Baumgartner, Marcus Deschauer, Astrid Eisenkölbl, Marina Flotats-Bastardas, Andreas Hahn, Veronka Horber, Ralf A Husain, Sabine Illsinger, Jessika Johannsen, Cornelia Köhler, Heike Kölbel, Monika Müller, Arpad von Moers, Kurt Schlachter, Gudrun Schreiber, Oliver Schwartz, Martin Smitka, Elisabeth Steiner, Eva Stögmann, Regina Trollmann, Katharina Vill, Claudia Weiß, Gert Wiegand, Andreas Ziegler, Hanns Lochmüller, Janbernd Kirschner; SMArtCARE study group
- [Pediatric neurocritical care] [Article in German] Nora Bruns, Ulrike Schara-Schmidt, Christian Dohna-Schwake
- [Neuropediatrics meets Neurology : Similarities-Differences?] [Article in German] Ulrike Schara-Schmidt
- The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1 Julien H Park, Ulrika Nordström, Konstantinos Tsiakas, Isil Keskin, Christiane Elpers, Manoj Mannil, Raoul Heller, Melinda Nolan, Salam Alburaiky, Per Zetterström, Maja Hempel, Ulrike Schara-Schmidt, Saskia Biskup, Petra Steinacker, Markus Otto, Jochen Weishaupt, Andreas Hahn, René Santer, Thorsten Marquardt, Stefan L Marklund, and Peter M Andersen
- Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey Lynda El-Hassar, Ahmed Amara, Benoit Sanson, Oana Lacatus, Ahmed Amir Belhouchet, Madelon Kroneman, Kristl Claeys, Jean Philippe Plançon, Carmelo Rodolico, Guido Primiano, Francesca Trojsi, Massimiliano Filosto, Tiziana Enrica Mongini, Sara Bortolani, Mauro Monforte, Elena Carraro, Lorenzo Maggi, Federica Ricci, Vincenzo Silani, Daniele Orsucci, Alain Créange, Yann Péréon, Tanya Stojkovic, Nadine Anna Maria Elisabeth van der Beek, Antonio Toscano, Davide Pareyson, Shahram Attarian, Peter Y K Van den Bergh, Gauthier Remiche, Janneke G J Hoeijmakers, Umesh Badrising, Nicol C Voermans, Angela M Kaindl, Ulrike Schara-Schmidt, Benedikt Schoser, Elisabetta Gazzerro, Jana Haberlová, Stanislav Voháňka, Endre Pál, Maria Judit Molnar, Lea Leonardis, Ivailo L Tournev, Andrés Nascimento Osorio, Montse Olivé, Nuria Muelas, Jorge Alonso-Perez, Francesc Plá, Marianne de Visser, Gabriele Siciliano, Sabrina Sacconi
- Patterns of cardiac involvement in different muscular dystrophies assessed by magnetic resonance imaging Juliane Goebel, Karolin Schult, Ulrike Schara, Ulrich Neudorf, Michael Forsting, Thomas Schlosser, Kai Nassenstein
- Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects Andreas Roos, Peter F M van der Ven, Hadil Alrohaif, Heike Kölbel, Lorena Heil, Adela Della Marina, Joachim Weis, Marvin Aßent, Stefanie Beck-Wödl, Rita Barresi, Ana Töpf, Kaela O’Connor, Albert Sickmann, Nicolai Kohlschmidt, Magdeldin El Gizouli, Nancy Meyer, Nassam Daya, Valentina Grande, Karin Bois, Frank J Kaiser, Matthias Vorgerd, Christopher Schröder, Ulrike Schara-Schmidt, Andrea Gangfuss, Teresinha Evangelista, Luisa Röbisch, Andreas Hentschel, Anika Grüneboom, Dieter O Fuerst, Alma Kuechler, Andreas Tzschach, Christel Depienne, Hanns Lochmüller
- Microscopic and Biochemical Hallmarks of BICD2-Associated Muscle Pathology toward the Evaluation of Novel Variants Andreas Unger, Andreas Roos, Andrea Gangfuß, Andreas Hentschel, Dieter Gläser, Karsten Krause, Kristina Doering, Ulrike Schara-Schmidt, Sabine Hoffjan, Matthias Vorgerd, Anne-Katrin Güttsches
- Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study Astrid Pechmann, Max Behrens, Katharina Dörnbrack, Adrian Tassoni, Franziska Wenzel, Sabine Stein, Sibylle Vogt, Daniela Zöller, Günther Bernert, Tim Hagenacker, Ulrike Schara-Schmidt, Maggie C Walter, Meike Steinbach, Astrid Blaschek, Matthias Baumann, Manuela Baumgartner, Benedikt Becker, Marina Flotats-Bastardas, Johannes Friese, Rene Günther, Andreas Hahn, Hanna Küpper, Jessika Johannsen, Christoph Kamm, Jan Christoph Koch, Cornelia Köhler, Heike Kölbel, Kirsten Kolzter, Arpad von Moers, Steffen Naegel, Christoph Neuwirth, Susanne Petri, Annekathrin Rödiger, Mareike Schimmel, Bertold Schrank, Gudrun Schreiber, Martin Smitka, Christian Stadler, Elisabeth Steiner, Eva Stögmann, Regina Trollmann, Matthias Türk, Markus Weiler, Corinna Stoltenburg, Ekkehard Willichowsky, Daniel Zeller, Andreas Ziegler, Hanns Lochmüller, Janbernd Kirschner; SMArtCARE Study Group
- Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1 Chi D L Nguyen, Aura Cecilia Jimenez-Moreno, Monika Merker, Charles Joseph Bowers, Nikoletta Nikolenko, Andreas Hentschel, Thomas Müntefering, Angus Isham, Tobias Ruck, Matthias Vorgerd, Vera Dobelmann, Genevieve Gourdon, Ulrike Schara-Schmidt, Andrea Gangfuss, Charlotte Schröder, Albert Sickmann, Claudia Gross, Grainne Gorman, Werner Stenzel , Laxmikanth Kollipara, Denisa Hathazi, Sally Spendiff, Cynthia Gagnon, Corinna Preusse, Elise Duchesne, Hanns Lochmüller, Andreas Roos
- A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function Andreas Hentschel, Nancy Meyer, Nicolai Kohlschmidt, Claudia Groß, Albert Sickmann, Ulrike Schara-Schmidt, Fabian Förster, Ana Töpf, Jon Christiansen, Rita Horvath, Matthias Vorgerd, Rachel Thompson, Kiran Polavarapu, Hanns Lochmüller, Corinna Preusse, Luis Hannappel, Anne Schänzer, Anika Grüneboom, Andrea Gangfuß, Andreas Roos
- Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany Wolfgang Müller-Felber, Astrid Blaschek, Oliver Schwartz, Dieter Gläser, Uta Nennstiel, Inken Brockow, Brunhilde Wirth, Siegfried Burggraf, Wulf Röschinger, Marc Becker, Jürgen Durner, Katja Eggermann, Heike Kölbel, Christine Müller, Iris Hannibal, Bernd Olgemöller, Ulrike Schara, Arpad von Moers, Regina Trollmann, Jessika Johannssen, Andreas Ziegler, Sebahattin Cirak, Andreas Hahn, Maja von der Hagen, Claudia Weiss, Gudrun Schreiber, Marina Flotats-Bastardas, Hans Hartmann, Sabine Illsinger, Astrid Pechmann, Veronka Horber, Jan Kirschner, Cornelia Köhler, Benedikt Winter, Johannes Friese, Katharina Vill
- Risk and course of COVID-19 in immunosuppressed patients with myasthenia gravis Frauke Stascheit, Ulrike Grittner, Sarah Hoffmann, Philipp Mergenthaler, Michael Schroeter, Tobias Ruck, Mark Pawlitzki, Franz Blaes, Julia Kaiser, Ulrike Schara, Adela Della-Marina, Andrea Thieme, Tim Hagenacker, Christian Jacobi, Benjamin Berger, Peter P Urban, Karl Christian Knop, Berthold Schalke, De-Hyung Lee, Petra Kalischewski, Heinz Wiendl, Andreas Meisel
- [Update on drug treatment of spinal muscular atrophy] [Article in German] Heike Kölbel, Tim Hagenacker
- Anxiety in children with SMA – An underestimated problem Heike Kölbel
- [Myasthenia in adults, children, and adolescents: what’s new?] [Article in German] Frauke Stascheit, Adela Della Marina, Andreas Meisel
- Giant Cavernous Malformation Mimicking an Infiltrative Intracranial Neoplasm in Children-Case Report and Systematic Review of the Literature Enrique González-Gallardo, Laurèl Rauschenbach, Alejandro N Santos, Christoph Riess, Yan Li, Stephan Tippelt, Adela Della Marina, Christian Dohna-Schwake, Ulrich Sure, Philipp Dammann
- High Prevalence of Alternative Diagnoses in Children and Adolescents with Suspected Long COVID-A Single Center Cohort Study Sarah C Goretzki, Maire Brasseler, Burcin Dogan, Tom Hühne, Daniel Bernard, Anne Schönecker, Mathis Steindor, Andrea Gangfuß, Adela Della Marina, Ursula Felderhoff-Müser, Christian Dohna-Schwake, Nora Bruns
- [Amyotrophic lateral sclerosis-Motor neuron disease with a wide clinical and genetic spectrum] [Article in German] Andrea Gangfuß, Zacharias Kohl
- Hybrid reflected-ultrasound computed tomography versus B-mode-ultrasound for muscle scoring in spinal muscular atrophy Vera Danko, Jörg Jüngert, Stephanie Schuessler, Adrian Buehler, Daniel Klett, Anna Federle, Andreas Roos, Hanns Lochmüller, Markus F Neurath, Joachim Woelfle, Regina Trollmann, Maximilian J Waldner, Ferdinand Knieling, Adrian P Regensburger, Alexandra L Wagner
- Molecular mechanisms in chloroquine-exposed muscle cells elucidated by combined proteomic and microscopic studies Vietxuan Phan, Denisa Hathazi, Corinna Preuße, Artur Czech, Erik Freier, Gerta Shema, René P Zahedi, Andreas Roos
- Beyond vacuolar pathology: Multiomic profiling of Danon disease reveals dysfunctional mitochondrial homeostasis Felix Kleefeld, Andreas Hentschel, Arpad von Moers, Katrin Hahn, Rita Horvath, Hans-Hilmar Goebel, Corinna Preusse, Jens Schallner, Markus Schuelke, Andreas Roos, Werner Stenzel
- Dysregulation of Metabolism and Proteostasis in Skeletal Muscle of a Presymptomatic Pompe Mouse Model Marlena Rohm, Leon Volke, Lara Schlaffke, Robert Rehmann, Nicolina Südkamp, Andreas Roos, Anne Schänzer, Andreas Hentschel, Matthias Vorgerd
- Senescent fibro-adipogenic progenitors are potential drivers of pathology in inclusion body myositis Christopher Nelke, Christina B Schroeter, Lukas Theissen, Corinna Preusse, Marc Pawlitzki, Saskia Räuber, Vera Dobelmann, Derya Cengiz, Felix Kleefeld, Andreas Roos, Benedikt Schoser, Anna Brunn, Eva Neuen-Jacob, Jana Zschüntzsch, Sven G Meuth, Werner Stenzel, Tobias Ruck
- Eculizumab treatment alters the proteometabolome beyond the inhibition of complement Christopher Nelke, Christina B Schroeter, Frauke Stascheit, Niklas Huntemann, Marc Pawlitzki, Alice Willison, Saskia Räuber, Nico Melzer, Ute Distler, Stefan Tenzer, Kai Stühler, Andreas Roos, Andreas Meisel, Sven G Meuth, Tobias Ruck
- Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems Dominik Sellung, Lorena Heil, Nassam Daya, Frank Jacobsen, Janine Mertens-Rill, Heidi Zhuge, Kristina Döring, Misagh Piran, Hendrik Milting, Andreas Unger, Wolfgang A. Linke, Rudi Kley, Corinna Preusse, Andreas Roos, Dieter O. Fürst, Peter F. M. van der Ven, Matthias Vorgerd
- Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort Juliane Bremer, Axel Meinhardt, Istvan Katona, Jan Senderek, Elke K Kämmerer-Gassler, Andreas Roos, Andreas Ferbert, J Michael Schröder, Stefan Nikolin, Kay Nolte, Bernd Sellhaus, Klimentina Popzhelyazkova, Frank Tacke, Ulrike Schara-Schmidt, Eva Neuen-Jacob, Chantal Ceuterick de Groote, Peter de Jonghe, Vincent Timmerman, Jonathan Baets, Joachim Weis
- Analysis of Free Circulating Messenger Ribonucleic Acids in Serum Samples from Late-Onset Spinal Muscular Atrophy Patients Using nCounter NanoString Technology
Markus Leo, Linda-Isabell Schmitt,Fabian Mairinger, Andreas Roos, Christina Hansmann, Stefanie Hezel, Jelena Skuljec, Refik Pul, Ulrike Schara-Schmidt, Christoph Kleinschnitz, Tim Hagenacker - Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series Alessia Pugliese, Adela Della Marina, Eduardo de Paula Estephan, Edmar Zanoteli, Andreas Roos, Ulrike Schara-Schmidt, Andreas Hentschel, Yoshiteru Azuma, Ana Töpf, Rachel Thompson, Kiran Polavarapu & Hanns Lochmüller
- Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene Leoni S. Erbe, Sabine Hoffjan, Sören Janßen, Moritz Kneifel, Karsten Krause, Wanda M. Gerding, Kristina Döring, Anne-Katrin Güttsches, Andreas Roos, Elena Buena Atienza, Caspar Gross, Thomas Lücke, Hoa Huu Phuc Nguyen, Matthias Vorgerd, Cornelia Köhler
- Correction: A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function Andreas Hentschel, Nancy Meyer, Nicolai Kohlschmidt, Claudia Groß, Albert Sickmann, Ulrike Schara-Schmidt, Fabian Förster, Ana Töpf, Jon Christiansen, Rita Horvath, Matthias Vorgerd, Rachel Thompson, Kiran Polavarapu, Hanns Lochmüller, Corinna Preusse, Luis Hannappel, Anne Schänzer, Anika Grüneboom, Andrea Gangfuß, Andreas Roos
- Post-COVID exercise intolerance is associated with capillary alterations and immune dysregulations in skeletal muscles Tom Aschman, Emanuel Wyler, Oliver Baum, Andreas Hentschel, Rebekka Rust, Franziska Legler, Corinna Preusse, Lil Meyer-Arndt, Ivana Büttnerova, Alexandra Förster, Derya Cengiz, Luiz Gustavo Teixeira Alves, Julia Schneider, Claudia Kedor, Judith Bellmann-Strobl, Aminaa Sanchin, Hans-Hilmar Goebel, Markus Landthaler, Victor Corman, Andreas Roos, Frank L Heppner, Helena Radbruch, Friedemann Paul, Carmen Scheibenbogen, Nora F Dengler, Werner Stenzel
- Impaired Neurodevelopment in Children with 5q-SMA – 2 Years After Newborn Screening Kölbel, Heike, Kopka, Marius, Modler, Laura, Blaschek, Astrid, Schara-Schmidt, Ulrike, Vill, Katharina, Schwartz, Oliver, Müller-Felber, Wolfgang
- The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD) Nicholas M Allen, Mark O’Rahelly, Bruno Eymard, Mondher Chouchane, Andreas Hahn, Gerry Kearns, Dae-Seong Kim, Shin Yun Byun, Cam-Tu Emilie Nguyen, Ulrike Schara-Schmidt, Heike Kölbel, Adela Della Marina, Christiane Schneider-Gold, Kathryn Roefke, Andrea Thieme, Peter Van den Bergh, Gloria Avalos, Rodrigo Álvarez-Velasco, Daniel Natera-de Benito, Man Hin Mark Cheng, Wing Ki Chan, Hoi Shan Wan, Mary Ann Thomas, Lauren Borch, Julie Lauzon, Cornelia Kornblum, Jens Reimann, Andreas Mueller, Thierry Kuntzer, Fiona Norwood, Sithara Ramdas, Leslie W Jacobson, Xiaobo Jie, Miguel A Fernandez-Garcia, Elizabeth Wraige, Ming Lim, Jean Pierre Lin, Kristl G Claeys, Selma Aktas, Maryam Oskoui, Yael Hacohen, Ameneh Masud, M Isabel Leite, Jacqueline Palace, Darryl De Vivo, Angela Vincent, Heinz Jungbluth
- High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophy Jessika Johannsen, Deike Weiss, Joenna Driemeyer, Jakob Olfe, Fridrike Stute, Ferdinand Müller, Marion Schütt, Regina Trollmann, Heike Kölbel, Ulrike Schara-Schmidt, Janbernd Kirschner, Astrid Pechmann, Astrid Blaschek, Veronka Horber, Jonas Denecke
- Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
Bettina C Henzi, Simone Schmidt, Sara Nagy, Daniela Rubino-Nacht, Sabine Schaedelin, Niveditha Putananickal, Georgia Stimpson; North Star Consortium; Helge Amthor, Anne-Marie Childs, Nicolas Deconinck, Imelda de Groot, Iain Horrocks, Saskia Houwen-van Opstal, Vincent Laugel, Mercedes Lopez Lobato, Marcos Madruga Garrido , Andrés Nascimento Osorio, Ulrike Schara-Schmidt, Stefan Spinty, Arpad von Moers, Fiona Lawrence, Patricia Hafner, Olivier M Dorchies, Dirk Fischer - The myotubular and centronuclear myopathy patient registry: a multifunctional tool for translational research Joanne Bullivant, Anando Sen, Jess Page, Robert J Graham, Heinz Jungbluth, Ulrike Schara-Schmidt, Orla Lynch, Carsten Bönnemann, Aart den Hollander, Anne Lennox, Dionne Moat, Claudia Saegert, Kimberly Amburgey, Ana Buj-Bello, James J Dowling, Chiara Marini-Bettolo
- Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study Claudia A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Anna Kostera-Pruszczyk, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Francis Warren, Renata S. Scalco, Kathryn R. Wagner, Francesco Muntoni on behalf of the JEWELFISH Study Group
- Genetic landscape of pediatric acute liver failure of indeterminate origin Dominic Lenz, Lea D Schlieben , Masaru Shimura, Alyssa Bianzano, Dmitrii Smirnov, Robert Kopajtich, Riccardo Berutti, Rüdiger Adam, Denise Aldrian, Ivo Baric, Ulrich Baumann, Neslihan Eksi Bozbulut, Melanie Brugger, Theresa Brunet, Philip Bufler, Birutė Burnytė, Pier Luigi Calvo, Ellen Crushell, Buket Dalgıç, Anibh M Das, Antal Dezsőfi, Felix Distelmaier, Alexander Fichtner, Peter Freisinger, Sven F Garbade, Harald Gaspar, Louise Goujon, Nedim Hadzic, Steffen Hartleif, Bianca Hegen, Maja Hempel, Stephan Henning, Andre Hoerning, Roderick Houwen, Joanne Hughes, Raffaele Iorio, Katarzyna Iwanicka-Pronicka, Martin Jankofsky, Norman Junge, Ino Kanavaki, Aydan Kansu, Sonja Kaspar, Simone Kathemann, Deidre Kelly, Ceyda Tuna Kırsaçlıoğlu, Birgit Knoppke, Martina Kohl, Heike Kölbel, Stefan Kölker, Vassiliki Konstantopoulou, Tatiana Krylova, Zarife Kuloğlu, Alice Kuster, Martin W Laass, Elke Lainka, Eberhard Lurz, Hanna Mandel, Katharina Mayerhanser, Johannes A Mayr, Patrick McKiernan, Patricia McLean, Valerie McLin, Karine Mention, Hanna Müller, Laurent Pasquier, Martin Pavlov, Natalia Pechatnikova, Bianca Peters, Danijela Petković Ramadža, Dorota Piekutowska-Abramczuk, Denisa Pilic, Sanjay Rajwal, Nathalie Rock, Agnès Roetig, René Santer, Wilfried Schenk, Natalia Semenova, Christiane Sokollik, Ekkehard Sturm, Robert W Taylor, Eva Tschiedel, Vaidotas Urbonas, Roser Urreizti, Jan Vermehren , Jerry Vockley, Georg-Friedrich Vogel, Matias Wagner, Wendy van der Woerd, Saskia B Wortmann, Ekaterina Zakharova, Georg Friedrich Hoffmann, Thomas Meitinger, Kei Murayama, Christian Staufner, Holger Prokisch
- Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants Georg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, Lea D Schlieben, Holger Prokisch, René G Feichtinger, Johannes A Mayr, Heiko Brennenstuhl, Julian Schröter, Agnes Pechlaner, Fowzan S Alkuraya, Joshua J Baker, Giulia Barcia, Ivo Baric, Nancy Braverman, Birute Burnyte, John Christodoulou, Elzbieta Ciara, David Coman, Anibh M Das, Niklas Darin, Adela Della Marina, Felix Distelmaier, Erik A Eklund, Melike Ersoy, Weiyan Fang, Pauline Gaignard, Rebecca D Ganetzky, Emmanuel Gonzales, Caoimhe Howard, Joanne Hughes, Vassiliki Konstantopoulou, Melis Kose, Marina Kerr, Aneal Khan, Dominic Lenz, Robert McFarland, Merav Gil Margolis, Kevin Morrison, Thomas Müller, Kei Murayama, Emanuele Nicastro, Alessandra Pennisi, Heidi Peters, Dorota Piekutowska-Abramczuk, Agnès Rötig, René Santer, Fernando Scaglia, Manuel Schiff, Mohmmad Shagrani, Mark Sharrard, Claudia Soler-Alfonso, Christian Staufner, Imogen Storey, Michael Stormon, Robert W Taylor, David R Thorburn, Elisa Leao Teles, Jian-She Wang, Daniel Weghuber, Saskia Wortmannd
- Spinal astrocyte dysfunction drives motor neuron loss in late-onset spinal muscular atrophy. Schmitt LI, David C, Steffen R, Hezel S, Roos A, Schara-Schmidt U, Kleinschnitz C, Leo M, Hagenacker T.Acta Neuropathol. 2023 May;145(5):611-635. doi: 10.1007/s00401-023-02554-4. Epub 2023 Mar 17.PMID: 36930296
- [Ways to treatment of neuromuscular diseases in neuropediatrics and adult neurology]. Schara-Schmidt U, Linker R. Nervenarzt.2023. PMID: 37294508 German. No abstract available.
- Gene replacement therapy in spinal muscular atrophy: filling the data gaps.
Hagenacker T, Schara-Schmidt U.Lancet Reg Health Eur. 2023 Dec 22;37:100822. doi: 10.1016/j.lanepe.2023.100822. eCollection 2024 Feb.PMID: 38205071. No abstract available.
- Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial JAMA. 2022 Apr 19;327(15):1456-1468. Autoren: Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Speed C, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Griggs RC; FOR-DMD Investigators of the Muscle Study Group; Straub V, van Ruiten H, Childs AM, Ciafaloni E, Shieh PB, Spinty S, Maggi L, Baranello G, Butterfield RJ, Horrocks IA, Roper H, Alhaswani Z, Flanigan KM, Kuntz NL, Manzur A, Darras BT, Kang PB, Morrison L, Krzesniak-Swinarska M, Mah JK, Mongini TE, Ricci F, von der Hagen M, Finkel RS, O’Reardon K, Wicklund M, Kumar A, McDonald CM, Han JJ, Joyce N, Henricson EK, Schara-Schmidt U, Gangfuss A, Wilichowski E, Barohn RJ, Statland JM, Campbell C, Vita G, Vita GL, Howard JF Jr, Hughes I, McMillan HJ, Pegoraro E, Bello L, Burnette WB, Thangarajh M, Chang T.
- Bi-allelic truncating mutations in VWA cause neuromyopathy. Brain. 2021 Mar 3;144(2):574-583Deschauer M, Hengel H, Rupprich K, Kreiß M, Schlotter-Weigel B, Grimmel M,Admard J, Schneider I, Alhaddad B, Gazou A, Sturm M, Vorgerd M, Balousha G,Balousha O, Falna M, Kirschke JS, Kornblum C, Jordan B, Kraya T, Strom TM, Weis J, Schöls L, Schara U, Zierz S, Riess O, Meitinger T, Haack TB.
- Improved upper limb function in non-ambulant children with SMA type and during nusinersen treatment: a prospective -years SMArtCARE registry study Astrid Pechmann, Max Behrens, Katharina Dörnbrack, Adrian Tassoni, Franziska Wenzel, Sabine Stein, Sibylle Vogt, Daniela Zöller, Günther Bernert, Tim Hagenacker, Ulrike Schara-Schmidt, Maggie C Walter, Astrid Bertsche, Katharina Vill, Matthias Baumann, Manuela Baumgartner, Isabell Cordts, Astrid Eisenkölbl, Marina Flotats-Bastardas, Johannes Friese, René Günther, Andreas Hahn, Veronka Horber, Ralf A Husain, Sabine Illsinger, Jörg Jahnel, Jessika Johannsen, Cornelia Köhler, Heike Kölbel, Monika Müller, Arpad von Moers, Annette Schwerin-Nagel, Christof Reihle, Kurt Schlachter, Gudrun Schreiber, Oliver Schwartz, Martin Smitka, Elisabeth Steiner, Regina Trollmann, Markus Weiler, Claudia Weiß, Gert Wiegand, Ekkehard Wilichowski, Andreas Ziegler, Hanns Lochmüller, Janbernd Kirschner; SMArtCARE study group
- [Gene-based treatment in spinal muscular atrophy] [Article in German] T Hagenacker, U Schara-Schmidt, C Kleinschnitz
- Essen transition model for neuromuscular diseases Michael Fleischer, Bayram Coskun, Benjamin Stolte, Adela Della-Marina , Heike Kölbel , Hildegard Lax, Michael Nonnemacher, Christoph Kleinschnitz, Ulrike Schara-Schmidt, Tim Hagenacker
- [Genomics and proteomics in the research of neuromuscular diseases] [Article in German] Andrea Gangfuß, Ulrike Schara-Schmidt, Andreas Roos
- ANO-related muscle diseases: From clinics and genetics to pathology and research strategies Jon Christiansen, Anne-Katrin Güttsches, Ulrike Schara-Schmidt, Matthias Vorgerd, Christoph Heute, Corinna Preusse, Werner Stenzel, and Andreas Roos
- New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC Heike Kölbel, Florian Kraft, Andreas Hentschel, Artur Czech, Andrea Gangfuss, Payam Mohassel, Chi Nguyen, Werner Stenzel, Ulrike Schara-Schmidt, Corinna Preuße and Andreas Roos
- Endoplasmic reticulum‐stress and unfolded protein response‐activation in immune‐mediated necrotizing myopathy Corinna Preusse, Theodore Marteau, Norina Fischer, Andreas Hentschel, Albert Sickmann, Sven Lang, Udo Schneider, Ulrike Schara‐Schmidt, Nancy Meyer, Tobias Ruck, Nora F. Dengler, Johannes Prudlo, Ales Dudesek, Norman Görl, Yves Allenbach, Olivier Benveniste, Hans‐Hilmar Goebel, Carsten Dittmayer, Werner Stenzel,corresponding author and Andreas Roos
- Parental Burden and Quality of Life in q-SMA Diagnosed by Newborn Screening Heike Kölbel, Laura Modler, Astrid Blaschek, Ulrike Schara-Schmidt, Katharina Vill, Oliver Schwartz, Wolfgang Müller-Felber
- Neuromuscular Features in XL-MTM Carriers: A Cross-sectional Study in an Unselected Cohort Daniëlle K Franken, Karlijn Bouman, Stacha F I Reumers, Frederik Braun, Jennifer Spillane, Maartje Pennings, Saskia L S Houwen, Corrie E Erasmus, Ulrike Schara-Schmidt, Erik-Jan Kamsteeg, Heinz Jungbluth, Nicol C Voermans
- Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects Annabelle Arlt, Nicolai Kohlschmidt, Andreas Hentschel, Enrika Bartels, Claudia Groß, Ana Töpf, Pınar Edem, Nora Szabo, Albert Sickmann, Nancy Meyer, Ulrike Schara-Schmidt, Jarred Lau, Hanns Lochmüller, Rita Horvath, Yavuz Oktay, Andreas Roos, Semra Hiz
- Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initially Adela Della Marina, Annikki Bertolini, Andreas Wegener-Panzer, Marina Flotats-Bastardas, Tabea Reinhardt, Ines El Naggar, Felix Distelmaier, Astrid Blaschek, Ulrike Schara-Schmidt, Theresa Brunet, Matias Wagner, Dimitri Smirnov, Holger Prokisch, Saskia B Wortmann , Kevin Rostasy
- Assessment of face validity of a disease model of nonsense mutation Duchenne muscular dystrophy: a multi-national Delphi panel study Erik Landfeldt, Rongrong Zhang, Anne-Marie Childs, Jessika Johannsen, Declan O’Rourke, Thomas Sejersen, Jurgis Strautmanis, Ulrike Schara-Schmidt, Mar Tulinius, Maggie C Walter, Tracey Willis, Katharina Buesch
- Identification of a novel homozygous synthesis of cytochrome c oxidase variant in siblings with early-onset axonal Charcot-Marie-Tooth disease Andrea Gangfuß, Andreas Hentschel, Nina Rademacher, Albert Sickmann, Burkhard Stüve, Rita Horvath, Claudia Gross, Nicolai Kohlschmidt, Fabian Förster, Angela Abicht, Anne Schänzer, Ulrike Schara-Schmidt, Andreas Roos, Adela Della Marina
- Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC) Andrea Gangfuß, Andreas Hentschel, Lorena Heil, Maria Gonzalez, Anne Schönecker, Christel Depienne, Anna Nishimura, Diana Zengeler, Nicolai Kohlschmidt, Albert Sickmann, Ulrike Schara-Schmidt, Dieter O Fürst, Peter F M van der Ven, Andreas Hahn, Andreas Roos, Anne Schänzer
- A de novo CSDE variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents Andrea Gangfuß, Hanns Lochmüller, Ana Töpf, Emily O’Heir, Rita Horvath, Heike Kölbel, Bernd Schweiger, Ulrike Schara-Schmidt, Andreas Roos
- Homozygous WASHC variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement Andrea Gangfuß, Artur Czech, Andreas Hentschel, Ute Münchberg, Rita Horvath, Ana Töpf, Emily O’Heir, Hanns Lochmüller, Florian Stehling, Cordula Kiewert, Albert Sickmann, Alma Kuechler, Frank J Kaiser, Heike Kölbel, Jon Christiansen, Ulrike Schara-Schmidt, Andreas Roos
- NCAM and GDF are biomarkers of Charcot-Marie-Tooth disease in patients and mice Matthew J Jennings, Alexia Kagiava, Leen Vendredy, Emily L Spaulding, Marina Stavrou, Denisa Hathazi, Anika Grüneboom, Vicky De Winter, Burkhard Gess, Ulrike Schara, Oksana Pogoryelova, Hanns Lochmüller, Christoph H Borchers, Andreas Roos, Robert W Burgess, Vincent Timmerman, Kleopas A Kleopa, Rita Horvath
- Spinal Muscular Atrophy – Is Newborn Screening Too Late for Children with Two SMN Copies? Oliver Schwartz, Heike Kölbel, Astrid Blaschek, Dieter Gläser, Siegfried Burggraf, Wulf Röschinger, Ulrike Schara, Wolfgang Müller-Felber, Katharina Vill
- Skeletal muscle provides the immunological micro-milieu for specific plasma cells in anti-synthetase syndrome-associated myositis Corinna Preuße, Barbara Paesler, Christopher Nelke, Derya Cengiz, Thomas Müntefering, Andreas Roos, Damien Amelin, Yves Allenbach, Akinori Uruha, Carsten Dittmayer, Andreas Hentschel, Marc Pawlitzki, Sarah Hoffmann, Sara Timm, Sarah Leonard Louis, Nora F Dengler, Heinz Wiendl, Jan D Lünemann, Albert Sickmann, Baptiste Hervier, Sven G Meuth, Udo Schneider, Anne Schänzer, Sabine Krause, Stylianos Tomaras, Eugen Feist, Rebecca Hasseli, Hans-Hilmar Goebel, Laure Gallay, Nathalie Streichenberger, Olivier Benveniste, Werner Stenzel, Tobias Ruck
- Morphologic and Molecular Patterns of Polymyositis With Mitochondrial Pathology and Inclusion Body Myositis Felix Kleefeld, Akinori Uruha, Anne Schänzer, Anna Nishimura, Andreas Roos, Udo Schneider, Hans H Goebel , Markus Schuelke, Katrin Hahn, Corinna Preusse, Werner Stenzel
- Quantitative muscle MRI captures early muscle degeneration in calpainopathy Johannes Forsting, Marlena Rohm, Martijn Froeling, Anne-Katrin Güttsches , Nicolina Südkamp, Andreas Roos, Matthias Vorgerd, Lara Schlaffke, Robert Rehmann
- High-Dimensional Cytometry Dissects Immunological Fingerprints of Idiopathic Inflammatory Myopathies Christopher Nelke, Marc Pawlitzki, Christina B Schroeter, Niklas Huntemann, Saskia Räuber, Vera Dobelmann, Corinna Preusse, Andreas Roos, Yves Allenbach, Olivier Benveniste, Heinz Wiendl, Ingrid E Lundberg, Werner Stenzel, Sven G Meuth, Tobias Ruck
- SGPL stimulates VPS recruitment to the mitochondria in MICU deficient cells Joshua Jackson, Lena Wischhof, Enzo Scifo, Anna Pellizzer, Yiru Wang, Antonia Piazzesi, Debora Gentile, Sana Siddig, Miriam Stork, Chris E Hopkins, Kristian Händler, Joachim Weis, Andreas Roos, Joachim L Schultze, Pierluigi Nicotera, Dan Ehninger, Daniele Bano
- High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases Semra Hiz Kurul, Yavuz Oktay, Ana Töpf, Nóra Zs Szabó, Serdal Güngör, Ahmet Yaramis, Ece Sonmezler, Leslie Matalonga, Uluc Yis, Katherine Schon, Ida Paramonov, İpek Polat Kalafatcilar, Fei Gao, Aliz Rieger, Nur Arslan, Elmasnur Yilmaz, Burcu Ekinci, Pinar Pulat Edem, Mahmut Aslan, Bilge Özgör, Angela Lochmüller, Ashwati Nair, Emily O’Heir, Alysia K Lovgren ; Broad Center for Mendelian Genomics; Reza Maroofian, Henry Houlden, Kiran Polavarapu, Andreas Roos, Juliane S Müller, Denisa Hathazi, Patrick F Chinnery, Steven Laurie, Sergi Beltran, Hanns Lochmüller, Rita Horvath
- Serum miRNAs as biomarkers for the rare types of muscular dystrophy Andrie Koutsoulidou, Demetris Koutalianos, Kristia Georgiou, Andrea C Kakouri, Anastasis Oulas, Marios Tomazou, Tassos C Kyriakides, Andreas Roos, George K Papadimas, Constantinos Papadopoulos, Evangelia Kararizou, George M Spyrou, Eleni Zamba Papanicolaou, Hanns Lochmüller, Leonidas A Phylactou
- Seroprevalence of Binding and Neutralizing Antibodies against Human Adenovirus Types in Patients with Neuromuscular Disorders Patrick Julian Klann, Xiaoyan Wang, Anna Elfert, Wenli Zhang, Cornelia Köhler, Anne-Katrin Güttsches, Frank Jacobsen, Ute Weyen, Andreas Roos, Eric Ehrke-Schulz, Anja Ehrhardt, Matthias Vorgerd, Wibke Bayer
- FYCO Increase and Effect of Arimoclomol-Treatment in Human VCP-Pathology Anne-Katrin Guettsches, Nancy Meyer, René P Zahedi, Teresinha Evangelista, Thomas Muentefering, Tobias Ruck, Emmanuelle Lacene, Christoph Heute, Humberto Gonczarowska-Jorge, Benedikt Schoser, Sabine Krause, Andreas Hentschel, Matthias Vorgerd, Andreas Roos
- Multispectral optoacoustic tomography for non-invasive disease phenotyping in pediatric spinal muscular atrophy patients Adrian P Regensburger, Alexandra L Wagner, Vera Danko, Jörg Jüngert, Anna Federle, Daniel Klett, Stephanie Schuessler, Adrian Buehler, Markus F Neurath, Andreas Roos, Hanns Lochmüller, Joachim Woelfle, Regina Trollmann, Maximilian J Waldner, Ferdinand Knieling
- Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights Andrea C Kakouri, Demetris Koutalianos, Andrie Koutsoulidou, Anastasis Oulas, Marios Tomazou, Nikoletta Nikolenko, Chris Turner, Andreas Roos, Anna Lusakowska, Katarzyna Janiszewska, George K Papadimas, Constantinos Papadopoulos, Evangelia Kararizou, Eleni Zamba Papanicolaou, Grainne Gorman, Hanns Lochmüller, George M Spyrou, Leonidas A Phylactou
- A clustering of heterozygous missense variants in the crucial chromatin modifier WDR defines a new neurodevelopmental disorder Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A Micheil Innes, Connie Stumpel, Katrin Õunap, Karit Reinson, Eleanor G Seaby, Shane McKee, Barbara Burton, Katherine Kim, Johanna M van Hagen, Quinten Waisfisz, Pascal Joset, Katharina Steindl, Anita Rauch, Dong Li, Elaine H Zackai, Sarah E Sheppard, Beth Keena, Hakon Hakonarson, Andreas Roos, Nicolai Kohlschmidt, Anna Cereda, Maria Iascone, Erika Rebessi, Kristin D Kernohan, Philippe M Campeau, Francisca Millan, Jesse A Taylor, Hanns Lochmüller, Martin R Higgs, Amalia Goula, Birgitta Bernhard, Danita J Velasco, Andrew A Schmanski, Zornitza Stark, Lyndon Gallacher, Lynn Pais, Paul C Marcogliese, Shinya Yamamoto, Nicholas Raun, Taryn E Jakub, Jamie M Kramer, Joery den Hoed, Simon E Fisher, Han G Brunner, Tjitske Kleefstra
- Rituximab in juvenile myasthenia gravis-an international cohort study and literature review Sithara Ramdas, Adela Della Marina, Monique M Ryan, Kenneth McWilliam, Andrea Klein, David Jacquier, Setareh Alabaf, Anne-Marie Childs, Deepak Parasuraman, David Beeson, Jacqueline Palace, Heinz Jungbluth
- Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome Eva Maria Wendel, Helen Sophie Thonke, Annikki Bertolini, Matthias Baumann, Astrid Blaschek, Andreas Merkenschlager, Michael Karenfort, Barbara Kornek, Christian Lechner, Daniela Pohl, Martin Pritsch, Kathrin Schanda, Mareike Schimmel, Charlotte Thiels, Stephan Waltz, Gert Wiegand, Banu Anlar, Nina Barisic, Christian Blank, Markus Breu, Philip Broser, Adela Della Marina, Katharina Diepold, Matthias Eckenweiler, Astrid Eisenkölbl, Michael Freilinger, Ursula Gruber-Sedlmayr, Annette Hackenberg, Tobias Iff, Ellen Knierim, Johannes Koch, Georg Kutschke, Steffen Leiz, Grischa Lischetzki, Margherita Nosadini, Alexander Pschibul, Edith Reiter-Fink, Doris Rohrbach, Michela Salandin, Stefano Sartori, Jan-Ulrich Schlump, Johannes Stoffels, Jurgis Strautmanis, Daniel Tibussek, Victoria Tüngler, Norbert Utzig, Markus Reindl, Kevin Rostásy; BIOMARKER Study Group
- Characterization of aEEG During Sleep and Wakefulness in Healthy Children Verena T Löffelhardt, Adela Della Marina, Sandra Greve, Hanna Müller , Ursula Felderhoff-Müser, Christian Dohna-Schwake, Nora Bruns
- Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type due to variants in LARS Dominic Lenz, Desirée E C Smith, Ellen Crushell, Ralf A Husain, Gajja S Salomons, Bader Alhaddad, Jonathan A Bernstein, Alyssa Bianzano, Saskia Biskup, Heiko Brennenstuhl, Dominique Caldari, Nicola Dikow, Tobias B Haack, Andrea Hanson-Kahn, Inga Harting, Denise Horn, Joanne Hughes, Maya Huijberts, Bertrand Isidor, Simone Kathemann, Robert Kopajtich, Urania Kotzaeridou, Sébastien Küry, Elke Lainka, Lucia Laugwitz, James R Lupski, Jennifer E Posey, Claire Reynolds, Jill A Rosenfeld, Julian Schröter, Fleur Vansenne, Matias Wagner, Claudia Weiß, Bruce H R Wolffenbuttel, Saskia B Wortmann, Stefan Kölker, Georg F Hoffmann, Holger Prokisch, Marisa I Mendes, Christian Staufner
- MR imaging in children with transverse myelitis and acquired demyelinating syndromes Ines El Naggar, Robert Cleaveland, Eva-Maria Wendel, Annikki Bertolini , Kathrin Schanda, Michael Karenfort, Charlotte Thiels, Adela Della Marina , Mareike Schimmel, Steffen Leiz, Christian Lechner, Matthias Baumann, Markus Reindl, Andreas Wegener-Panzer, Kevin Rostásy; on-behalf-of-the-BIOMARKER-Study-Group
- Natural Course of Cerebral Cavernous Malformations in Children: A Five-Year Follow-Up Study Alejandro N. Santos, Laurèl Rauschenbach, Dino Saban, Bixia Chen, Annika Herten, Thiemo Florin Dinger, Yan Li, Stephan Tippelt, Adela Della Marina, Christian Dohna-Schwake, Börge Schmidt, Ramazan Jabbarli, Karsten H. Wrede, Ulrich Sure and Philipp Dammann
- Development of restrictive eating disorders in children and adolescents with long-COVID-associated smell and taste dysfunction Maire Brasseler, Anne Schönecker, Mathis Steindor, Adela Della Marina, Nora Bruns, Burcin Dogan, Ursula Felderhoff-Müser, Johannes Hebebrand, Christian Dohna-Schwake, Sarah C Goretzki
- The impact of age and electrode position on amplitude-integrated EEGs in children from month to years of age Sandra Greve, Verena Tamara Löffelhardt, Adela Della Marina, Ursula Felderhoff-Müser, Christian Dohna-Schwake, Nora Bruns
- Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy.
Schorling DC, Kölbel H, Hentschel A, Pechmann A, Meyer N, Wirth B, Rombo R; SMArtCARE consortium; Sickmann A, Kirschner J, Schara-Schmidt U, Lochmüller H, Roos A.Eur J Neurol. 2022 Jul;29(7):2084-2096. doi: 10.1111/ene.15331. Epub 2022 May 4.PMID: 35318785 - Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?
Blaschek A, Kölbel H, Schwartz O, Köhler C, Gläser D, Eggermann K, Hannibal I, Schara-Schmidt U, Müller-Felber W, Vill K.J Neuromuscul Dis. 2022;9(5):597-605. doi: 10.3233/JND-221510.PMID: 35848034
- Bi-allelic truncating mutations in VWA1 cause neuromyopathy. Brain. 2021 Mar 3;144(2):574-583. Deschauer M, Hengel H, Rupprich K, Kreiß M, Schlotter-Weigel B, Grimmel M,Admard J, Schneider I, Alhaddad B, Gazou A, Sturm M, Vorgerd M, Balousha G,Balousha O, Falna M, Kirschke JS, Kornblum C, Jordan B, Kraya T, Strom TM, Weis J, Schöls L, Schara U, Zierz S, Riess O, Meitinger T, Haack TB.
- A Sum Score to Define Therapy-Refractory Myasthenia Gravis: A German Consensus. J Cent Nerv Syst Dis. 2021 Feb 1Schroeter M, Berger B, Blaes F, Hagenacker T, Jander S, Kaiser J, Kalischewski P, Lee DH, Ruck T, Schara U, Urban P, Meisel A.
- One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome. Orphanet J Rare Dis. 2021 Jan 22;16(1):42.Meyer R, Begemann M, Hübner CT, Dey D, Kuechler A, Elgizouli M, Schara U, Ambrozaityte L, Burnyte B, Schröder C, Kenawy A, Kroisel P, Demuth S, Fekete G, Opladen T, Elbracht M, Eggermann T.
- Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy. Orphanet J Rare Dis. 2021 Jan 6;16(1):3. Fouarge E, Monseur A, Boulanger B, Annoussamy M, Seferian AM, De Lucia S, Lilien C, Thielemans L, Paradis K, Cowling BS, Freitag C, Carlin BP, Servais L; NatHis-MTM Study Group.
- Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study. Ann Clin Transl Neurol. 2021 Feb;8(2):359-373. Annoussamy M, Seferian AM, Daron A, Péréon Y, Cances C, Vuillerot C, De Waele L, Laugel V, Schara U, Gidaro T, Lilien C, Hogrel JY, Carlier P, Fournier E, Lowes L, Gorni K, Ly-Le Moal M, Hellbach N, Seabrook T, Czech C, Hermosilla R, Servais L; NatHis-SMA study group.
- Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa. J Inherit Metab Dis. 2020 Dec 15. Vogt G, El Choubassi N, Herczegfalvi Á, Kölbel H, Lekaj A, Schara U, Holtgrewe M, Krause S, Horvath R, Schuelke M, Hübner C, Mundlos S, Roos A, Lochmüller H, Karcagi V, Kornak U, Fischer-Zirnsak B.
- Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes – A Retrospective Single Centre Cohort Study. Front Hum Neurosci. 2020 Dec 7;14:560860. Della Marina A, Wibbeler E, Abicht A, Kölbel H, Lochmüller H, Roos A, Schara U.
- Expertenempfehlung: Therapie nichtgehfähiger Patienten mit Muskeldystrophie Duchenne [Expert recommendation: treatment of nonambulatory patients with Duchenne muscular dystrophy]. Nervenarzt. 2020 Nov 19. Bernert G, Hahn A, Köhler C, Meyer S, Schara U, Schlachter K, Trollmann R, Walter MC.
- Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency. EMBO J. 2020 Dec 1;39(23):e105364. Hathazi D, Griffin H, Jennings MJ, Giunta M, Powell C, Pearce SF, Munro B, Wei W, Boczonadi V, Poulton J, Pyle A, Calabrese C, Gomez-Duran A, Schara U, Pitceathly RDS, Hanna MG, Joost K, Cotta A, Paim JF, Navarro MM, Duff J, Mattman A, Chapman K, Servidei S, Della Marina A, Uusimaa J, Roos A, Mootha V, Hirano M, Tulinius M, Giri M, Hoffmann EP, Lochmüller H, DiMauro S, Minczuk M, Chinnery PF, Müller JS, Horvath R.
- Tasks and interfaces in primary and specialized palliative care for Duchenne muscular dystrophy – A patients‘ perspective. Neuromuscul Disord. 2020 Dec;30(12):975-985. Janisch M, Boehme K, Thiele S, Bock A, Kirschner J, Schara U, Walter MC, Nolte-Buchholtz S, von der Hagen M.
- New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy. Brain. 2020 Sep 1;143(9):2696-2708. Alonso-Pérez J, González-Quereda L, Bello L, Guglieri M, Straub V, Gallano P, Semplicini C, Pegoraro E, Zangaro V, Nascimento A, Ortez C, Comi GP, Dam LT, De Visser M, van der Kooi AJ, Garrido C, Santos M, Schara U, Gangfuß A, Løkken N, Storgaard JH, Vissing J, Schoser B, Dekomien G, Udd B, Palmio J, D’Amico A, Politano L, Nigro V, Bruno C, Panicucci C, Sarkozy A, Abdel-Mannan O, Alonso-Jimenez A, Claeys KG, Gomez-Andrés D, Munell F, Costa-Comellas L, Haberlová J, Rohlenová M, Elke V, De Bleecker JL, Dominguez-González C, Tasca G, Weiss C, Deconinck N, Fernández-Torrón R, López de Munain A, Camacho-Salas A, Melegh B, Hadzsiev K, Leonardis L, Koritnik B, Garibaldi M, de Leon-Hernández JC, Malfatti E, Fraga-Bau A, Richard I, Illa I, Díaz-Manera J.
- Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy. J Comp Eff Res. 2020 Oct;9(14):973-984. Campbell C, Barohn RJ, Bertini E, Chabrol B, Comi GP, Darras BT, Finkel RS, Flanigan KM, Goemans N, Iannaccone ST, Jones KJ, Kirschner J, Mah JK, Mathews KD, McDonald CM, Mercuri E, Nevo Y, Péréon Y, Renfroe JB, Ryan MM, Sampson JB, Schara U, Sejersen T, Selby K, Tulinius M, Vílchez JJ, Voit T, Wei LJ, Wong BL, Elfring G, Souza M, McIntosh J, Trifillis P, Peltz SW, Muntoni F; PTC124-GD-007-DMD Study Group; ACT DMD Study Group; Clinical Evaluator Training Groups.
- 250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6-8 September 2019, Hoofdorp, the Netherlands. Neuromuscul Disord. 2020 Oct;30(10):866-875. Neuhaus SB, Wallgren-Pettersson C, Bönnemann CG, Schara U, Servais L; nemaline working group.
- The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series. Neurology. 2020 Sep 15;95(11):e1512-e1527. Villar-Quiles RN, von der Hagen M, Métay C, Gonzalez V, Donkervoort S, Bertini E, Castiglioni C, Chaigne D, Colomer J, Cuadrado ML, de Visser M, Desguerre I, Eymard B, Goemans N, Kaindl A, Lagrue E, Lütschg J, Malfatti E, Mayer M, Merlini L, Orlikowski D, Reuner U, Salih MA, Schlotter-Weigel B, Stoetter M, Straub V, Topaloglu H, Urtizberea JA, van der Kooi A, Wilichowski E, Romero NB, Fardeau M, Bönnemann CG, Estournet B, Richard P, Quijano-Roy S, Schara U, Ferreiro A.
- First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC. Hum Mutat. 2020 Sep;41(9):1600-1614. Kölbel H, Roos A, van der Ven PFM, Evangelista T, Nolte K, Johnson K, Töpf A, Wilson M, Kress W, Sickmann A, Straub V, Kollipara L, Weis J, Fürst DO, Schara U.
- Suitability of external controls for drug evaluation in Duchenne muscular dystrophy. Neurology. 2020 Sep 8;95(10):e1381-e1391. Goemans N, Signorovitch J, Sajeev G, Yao Z, Gordish-Dressman H, McDonald CM, Vandenborne K, Miller D, Ward SJ, Mercuri E; investigators from PRO-DMD-01 Study, CINRG DNHS, ImagingDMD, and the DMD Italian Group.
- Molekulare Therapien bei neuromuskulären Erkrankungen im Kindesalter – Große Hoffnungen und unbekannte Risiken [Molecular therapies in childhood neuromuscular disorders-definite hope versus unknown pitfalls]. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2020 Jul;63(7):891-897. Blaschek A, Vill K, Müller-Felber W, Schara U.
- Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. Genet Med. 2020 Sep;22(9):1478-1488. Töpf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasús AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG; MYO-SEQ consortium, Straub V.
- Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101 : Konsensuspapier der deutschen Vertretung der Gesellschaft für Neuropädiatrie (GNP) und der deutschen Behandlungszentren unter Mitwirkung des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e. V [Recommendations for gene therapy of spinal muscular atrophy with onasemnogene abeparvovec-AVXS-101 : Consensus paper of the German representatives of the Society for Pediatric Neurology (GNP) and the German treatment centers with collaboration of the medical scientific advisory board of the German Society for Muscular Diseases (DGM)]. Nervenarzt. 2020 Jun;91(6):518-529. Ziegler A, Wilichowski E, Schara U, Hahn A, Müller-Felber W, Johannsen J, von der Hagen M, von Moers A, Stoltenburg C, Saffari A, Walter MC, Husain RA, Pechmann A, Köhler C, Horber V, Schwartz O, Kirschner J.
- Immunofluorescence-Based Analysis of Caveolin-3 in the Diagnostic Management of Neuromuscular Diseases. Methods Mol Biol. 2020;2169:197-216.Roos A, Hathazi D, Schara U.
- Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden? J Neuromuscul Dis. 2020;7(2):109-117. Müller-Felber W, Vill K, Schwartz O, Gläser D, Nennstiel U, Wirth B, Burggraf S, Röschinger W, Becker M, Durner J, Eggermann K, Müller C, Hannibal I, Olgemöller B, Schara U, Blaschek A, Kölbel H.
- Treatment with Nusinersen – Challenges Regarding the Indication for Children with SMA Type 1. J Neuromuscul Dis. 2020;7(1):41-46. Pechmann A, Baumann M, Bernert G, Flotats-Bastardas M, Gruber-Sedlmayr U, von der Hagen M, Hasselmann O, Hobbiebrunken E, Horber V, Johannsen J, Kellersmann A, Köhler C, von Moers A, Müller-Felber W, Plecko B, Reihle C, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Stoltenburg C, Stüve B, Theophil M, Weiß C, Wiegand G, Wilichowski E, Winter B, Wittmann W, Schara U, Kirschner J.
- A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism. EBioMedicine. 2020 Jan;51:102587. Meinke P, Kerr ARW, Czapiewski R, de Las Heras JI, Dixon CR, Harris E, Kölbel H, Muntoni F, Schara U, Straub V, Schoser B, Wehnert M, Schirmer EC.
- Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophy. Neuromuscul Disord. 2020 Jan;30(1):5-16.Servais L, Straathof CSM, Schara U, Klein A, Leinonen M, Hasham S, Meier T, De Waele L, Gordish-Dressman H, McDonald CM, Mayer OH, Voit T, Mercuri E, Buyse GM; SYROS and CINRG DNHS Investigators.
- SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis. Brain. 2019 Aug 1;142(8):2230-2237. Park JH, Elpers C, Reunert J, McCormick ML, Mohr J, Biskup S, Schwartz O, Rust S, Grüneberg M, Seelhöfer A, Schara U, Boltshauser E, Spitz DR, Marquardt T.
- Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders. Orphanet J Rare Dis. 2019 Jul 16;14(1):179. Geis T, Rödl T, Topaloğlu H, Balci-Hayta B, Hinreiner S, Müller-Felber W, Schoser B, Mehraein Y, Hübner A, Zirn B, Hoopmann M, Reutter H, Mowat D, Schuierer G, Schara U, Hehr U, Kölbel H.
- „Be an ambassador for change that you would like to see“: a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease. Orphanet J Rare Dis. 2019 Jun 7;14(1):126. Ambrosini A, Quinlivan R, Sansone VA, Meijer I, Schrijvers G, Tibben A, Padberg G, de Wit M, Sterrenburg E, Mejat A, Breukel A, Rataj M, Lochmüller H, Willmann R; 235th ENMC workshop study group.
- Inflammation-induced fibrosis in skeletal muscle of female carriers of Duchenne muscular dystrophy. Neuromuscul Disord. 2019 Jul;29(7):487-496.Preuße C, von Moers A, Kölbel H, Pehl D, Goebel HH, Schara U, Stenzel W.
- German Competence Network for Congenital Heart Defects and the Treat-NMD Neuromuscular Network Investigators list of additional local Investigators and co-workers of the German Competence Network for Congenital Heart Defects and the Treat-NMD Neuromuscular Network. Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy – a randomized, double-blind, placebo-controlled trial. Orphanet J Rare Dis. 2019 May 10;14(1):105. Dittrich S, Graf E, Trollmann R, Neudorf U, Schara U, Heilmann A, von der Hagen M, Stiller B, Kirschner J, Pozza RD, Müller-Felber W, Weiss K, von Au K, Khalil M, Motz R, Korenke C, Lange M, Wilichowski E, Pattathu J, Ebinger F, Wiechmann N, Schröder R;
- Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients. Front Neurol. 2019 May 7;10:470. Kölbel H, Hathazi D, Jennings M, Horvath R, Roos A, Schara U.
- HADHA and HADHB gene associated phenotypes – Identification of rare variants in a patient cohort by Next Generation Sequencing. Mol Cell Probes. 2019 Apr;44:14-20. Diebold I, Schön U, Horvath R, Schwartz O, Holinski-Feder E, Kölbel H, Abicht A.
- X-linked myotubular myopathy: A prospective international natural history study. Neurology. 2019 Apr 16;92(16):e1852-e1867. Annoussamy M, Lilien C, Gidaro T, Gargaun E, Chê V, Schara U, Gangfuß A, D’Amico A, Dowling JJ, Darras BT, Daron A, Hernandez A, de Lattre C, Arnal JM, Mayer M, Cuisset JM, Vuillerot C, Fontaine S, Bellance R, Biancalana V, Buj-Bello A, Hogrel JY, Landy H, Servais L.
- SMArtCARE – A platform to collect real-life outcome data of patients with spinal muscular atrophy. Orphanet J Rare Dis. 2019 Jan 21;14(1):18. Pechmann A, König K, Bernert G, Schachtrup K, Schara U, Schorling D, Schwersenz I, Stein S, Tassoni A, Vogt S, Walter MC, Lochmüller H, Kirschner J.
- One Year of Newborn Screening for SMA – Results of a German Pilot Project. J Neuromuscul Dis. 2019;6(4):503-515. Vill K, Kölbel H, Schwartz O, Blaschek A, Olgemöller B, Harms E, Burggraf S, Röschinger W, Durner J, Gläser D, Nennstiel U, Wirth B, Schara U, Jensen B, Becker M, Hohenfellner K, Müller-Felber W.
- Characteristic clinical and ultrastructural findings in nesprinopathies. Eur J Paediatr Neurol. 2019 Mar;23(2):254-261. Kölbel H, Abicht A, Schwartz O, Katona I, Paulus W, Neuen-Jacob E, Weis J, Schara U.
- The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy. Neurology. 2018 Sep 25;91(13). Thangarajh M, Elfring GL, Trifillis P, McIntosh J, Peltz SW; Ataluren Phase 2b Study Group.
- Isolated PREPL deficiency associated with congenital myasthenic syndrome-22. Klin Padiatr. 2018 Sep;230(5):281-283. Laugwitz L, Redler S, Buchert R, Sturm M, Zeile I, Schara U, Wieczorek D, Haack T, Distelmaier F.
- Benign epilepsy with centrotemporal spikes: Correlating spike frequency and neuropsychology. Acta Neurol Scand. 2018 Aug 21. Tacke M, Rupp N, Gerstl L, Heinen F, Vill K, Bonfert M, Neubauer BA, Bast T, Borggraefe I; Further Members of the German HEAD Study Group.
- [Transition from neuropediatrics to neurology in neuromuscular diseases]. Nervenarzt. 2018 Aug 17. Schara U, Fink GR, von Moers A.
- Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study. PLoS One. 2018 Jul 26;13(7). Chabanon A, Seferian AM, Daron A, Péréon Y, Cances C, Vuillerot C, De Waele L, Cuisset JM, Laugel V, Schara U, Gidaro T, Gilabert S, Hogrel JY, Baudin PY, Carlier P, Fournier E, Lowes LP, Hellbach N, Seabrook T, Toledano E, Annoussamy M, Servais L; NatHis-SMA study group.
- Development of practice and consensus-based strategies including a treat-to-target approach for the management of moderate and severe juvenile dermatomyositis in Germany and Austria. Pediatr Rheumatol Online J. 2018 Jun 25;16(1):40. Hinze CH, Oommen PT, Dressler F, Urban A, Weller-Heinemann F, Speth F, Lainka E, Brunner J, Fesq H, Foell D, Müller-Felber W, Neudorf U, Rietschel C, Schwarz T, Schara U, Haas JP.
- A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial. Trials. 2018 May 10;19(1):291. Crow RA, Hart KA, McDermott MP, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Hirtz D, Lochmuller H, Straub V, Ciafaloni E, Shieh PB, Spinty S, Childs AM, Manzur AY, Morandi L, Butterfield RJ, Horrocks I, Roper H, Flanigan KM, Kuntz NL, Mah JK, Morrison L, Darras BT, von der Hagen M, Schara U, Wilichowski E, Mongini T, McDonald CM, Vita G, Barohn RJ, Finkel RS, Wicklund M, McMillan HJ Jr, Hughes I, Pegoraro E, Bryan Burnette W, Howard JF, Thangarajh M, Campbell C, Griggs RC, Bushby K, Guglieri M.
- Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial. Seizure. 2018 Mar;56:115-120. Tacke M, Borggraefe I, Gerstl L, Heinen F, Vill K, Bonfert M, Bast T; HEAD Study group, Neubauer BA, Baumeister F, Baethmann M, Bentele K, Blank C, Blank HM, Bode H, Bosch F, Brandl U, Brockmann K, Dahlem P, Ernst JP, Feldmann E, Fiedler A, Gerigk M, Heß S, Hikel C, Hoffmann HG, Kieslich M, Klepper J, Kluger G, Koch H, Koch W, Korinthenberg R, Krois I, Kühne H, Kurlemann G, Mandl M, Mause U, Navratil P, Opp J, Penzien J, Prietsch V, Quattländer A, Rating D, Schara U, Shamdeen MG, Sprinz A, Wendker-Magrabi H, Stephani U, Muhle H, Straßburg HM, Töpke B, Trollmann R, Tuschen-Hofstätter E, Waltz S, Weber G, Wien FU, Wolff M, Polster T, Freitag H, Sönmez Ö, Reinhardt K, Traus M, Hoovey Z.
- Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany. J Neuromuscul Dis. 2018;5(2):135-143. Pechmann A, Langer T, Schorling D, Stein S, Vogt S, Schara U, Kölbel H, Schwartz O, Hahn A, Giese K, Johannsen J, Denecke J, Weiß C, Theophil M, Kirschner J.
- Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. N Engl J Med. 2018 Feb 15;378(7):625-635. Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W,Schneider E, De Vivo DC, Finkel RS; CHERISH Study Group.
- 226(th) ENMC International Workshop:: Towards validated and qualified biomarkers for therapy development for Duchenne muscular dystrophy 20-22 January 2017, Heemskerk, The Netherlands. Neuromuscul Disord. 2018 Jan;28(1):77-86. Aartsma-Rus A, Ferlini A, McNally EM, Spitali P, Sweeney HL; workshop participants.
- 224th ENMC International Workshop:: Clinico-sero-pathological classification of immune-mediated necrotizing myopathies Zandvoort, The Netherlands, 14-16 October 2016. Neuromuscul Disord. 2018 Jan;28(1):87-99.Allenbach Y, Mammen AL, Benveniste O, Stenzel W; Immune-Mediated Necrotizing Myopathies Working Group.
- The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity. Autophagy. 2018;14(1):22-37. Mortari EP, Folgiero V, Marcellini V, Romania P, Bellacchio E, D’Alicandro V, Bocci C, Carrozzo R, Martinelli D, Petrini S, Axiotis E, Farroni C, Locatelli F, Schara U, Pilz D, Jungbluth H, Dionisi-Vici C, Carsetti R.
- A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy. Neuromuscul Disord. 2018 Jan;28(1):4-15. Goemans N, Mercuri E, Belousova E, Komaki H, Dubrovsky A, McDonald CM, Kraus JE, Lourbakos A, Lin Z, Campion G, Wang SX, Campbell C; DEMAND III study group.
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- Developing standardized corticosteroid treatment for Duchenne muscular dystrophy. Contemp Clin Trials. 2017;58: 34-39 (Impact(2016)=2.095, Typ=Article; Journal Article) Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Hirtz D, Shieh PB, Straub V, Childs AM, Ciafaloni E, Butterfield RJ, Horrocks I, Spinty S, Flanigan KM, Kuntz NL, Baranello G, Roper H, Morrison L, Mah JK, Manzur AY, McDonald CM, Schara U, von der Hagen M, Barohn RJ, Campbell C, Darras BT, Finkel RS, Vita G, Hughes I, Mongini T, Pegoraro E, Wicklund M, Wilichowski E, Bryan Burnette W, Howard JF, McMillan HJ, Thangarajh M, Griggs RC
- Appropriate use of next generation sequencing facilities for identifying new genetic causes of fetal akinesia deformation sequence (FADS). Eur J Paediatr Neurol. 2017;21(5): 697-698 (Impact(2016)=2.013, Typ=Editorial Material; Editorial) Schara U
- Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2017;390(10101): 1489-1498 (Impact(2016)=47.831, Typ=Article; Journal Article) McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Osorio AN, Schara U, Sejersen T, Shieh PB, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Elfring G, Kroger H, Luo X, McIntosh J, Ong T, Riebling P, Souza M, Spiegel RJ, Peltz SW, Mercuri E, Clinical Evaluator Training Group , ACT DMD Study Group , Alfano LN, Eagle M, James MK, Lowes L, Mayhew A, Mazzone ES, Nelson L, Rose KJ, Abdel-Hamid HZ, Apkon SD, Barohn RJ, Bertini E, Bloetzer C, de Vaud LC, Butterfield RJ, Chabrol B, Chae JH, Jongno-Gu DR, Comi GP, Darras BT, Dastgir J, Desguerre I, Escobar RG, Finanger E, Guglieri M, Hughes I, Iannaccone ST, Jones KJ, Karachunski P, Kudr M, Lotze T, Mah JK, Mathews K, Nevo Y, Parsons J, Péréon Y, de Queiroz Campos Araujo AP, Renfroe JB, de Resende MBD, Ryan M, Selby K, Tennekoon G, Vita G
- Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial. Lancet Neurol. 2017;16(7): 513-522 (Impact(2016)=26.284, Typ=Article; Journal Article; Randomized Controlled Trial; Multicenter Study; Clinical Trial, Phase II) Bertini E, Dessaud E, Mercuri E, Muntoni F, Kirschner J, Reid C, Lusakowska A, Comi GP, Cuisset JM, Abitbol JL, Scherrer B, Ducray PS, Buchbjerg J, Vianna E, van der Pol WL, Vuillerot C, Blaettler T, Fontoura P, Olesoxime SMA Phase 2 Study Investigators , André C, Bruno C, Chabrol B, Deconinck N, Estournet B, Fontaine-Carbonnel S, Goemans N, Gorni K, Govoni A, Guglieri M, Lochmuller H, Magri F, Mayer M, Müller-Felber W, Rivier F, Roper H, Schara U, Scoto M, van den Berg L, Vita G, Walter MC
- Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med. 2017;377(18): 1723-1732 (Impact(2016)=72.406, Typ=Article; Journal Article; Clinical Trial, Phase III; Randomized Controlled Trial; Multicenter Study) Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC, ENDEAR Study Group , Bradley WG, Schroth MK, Bodensteriner JB, Davis CS, Shell R, Hen J, Austin ED, Aziz-Zaman S, Cappell J, Constantinescu A, Cruz R, Dastgir J, Dunaway S, Engelstad K, Gormley M, Holuba La Marca N, Khandji A, Kramer S, Marra J, Ortiz-Miller C, Popolizio M, Salazar R, Sanabria L, Weimer L, Anand P, Gadeken R, Golumbek PT, Siener C, Zaidman CM, Al-Ghamdi F, Berde C, Ghosh P, Graham R, Harrington T, Koka A, Laine R, Liew W, Mirek E, Ordonez G, Pasternak A, Quigley J, Sethna N, Souris M, Szelag H, Wand L, Day JW, D’Souza G, Duong TT, Gee R, Kitsuwa-Lowe J, McFall D, Patnaik S, Paulose S, Perez J, Proud C, Purse B, Ramamurthi RJ, Sakamuri S, Sampson J, Sanjanwala B, Tesi Rocha AC, Watson K, Welsh L, Pena LDM, Case L, Coates J, DeArmey S, Homi MM, Milleson C, Nelson N, Ross A, Smith E, Taicher B, Wootton J, Finanger E, Benjamin D, Frank A, Roberts C, Russman B, Zilke K, Berry D, Civitello M, Cook D, Endsley JD, Johnson C, Kasper M, Leon W, Lim A, O’Reardon K, Sigurdardottir LY, Turner J, Weber-Guzman F, Zinn M, Iannaccone ST, Castro D, Cowie M, Farrow-Gillespie A, Herbert A, Kauk M, McElroy D, Miller N, Nelson L, Smith L, Spain T, Trest S, Johnson N, Butterfield R, DiBella D, Mayne K, Newcomb TM, Rausch N, Blomgren C, Choi HW, Epstein L, Goldman S, Krosschell K, Krueger J, Kurz J, Rao V, Parsons J, Allen V, Bielsky A, Booker K, Camuto A, Carry T, Fuhr P, Gibbons M, Janas J, Johnson H, Kelly C, Lord-Halvorson LS, Nicolarsen S, Shea S, Tran V, VanderVeen G, Yang M, Zimmerman C, Shieh P, Parziale N, Rao L, Said JW, Shu F, Skura C, Staudt L, Tennekoon G, Adang L, Brandsema J, Chadehumbe M, Flickinger J, Kichula E, Stanford D, Toms M, Zigmont J, Oskoui M, Arpin S, Dinunzio P, Ingelmo PM, Poulin C, Rivera G, Sabapathy C, Srour M, Turgeon-Desilet S, Zielinski D, Selby K, King C, Lee J, Michoulas A, Roland E, Vajsar J, Chau V, Dowling J, Haldenby R, Miki M, So S, Pascual Pascual SI, Martinez Bermejo A, Epinosa Garcia S, Garcia Guixot S, Martinez Moreno MM, del Pilar Tirado Requero M, del Mar Garcia Romero M, Aguilar C, Munell Casadesus F, Gomez Garcia de la Banda MB, Gallardo M, Gili G, Alavarez Molinero M, de Los Angeles Tormos Munoz M, Palacios NJ, Planas Pascual B, del Mar Melendez Plumed M, Rucian AF, Toro Tamargo E, Gratacos Vinola M, Borell S, Eckenweiler M, Krüger M, Pechmann A, Rippberger B, Stein S, Vogt S, Wider S, Schara U, Andres B, Della Marina A, Ganfuss A, Jachertz P, Koelbel H, Rupprich K, Schroers ES, Sponemann N, Bruno C, Fiorillo C, Garaventa A, Lanteri P, Lanzillotta V, Manzitti C, Pedermonte M, Tacchetti P, Trucco F, Zuffi A, De Sanctis R, Fanelli L, Luigetti M, Palermo C, Pane M, Piastra M, Sivo S, Gargaun E, Gidaro T, Gilabert S, Léger PL, Le Moing AG, Lilien C, Mayer M, Ollievier Q, Rambaud J, Taytard J, Vialle R, Voit T, Muntoni F, D’Argenzio L, Lister PH, Manzur A, Pisco Domingos J, Ramsey D, Ricotti V, Schottlaender L, Scoto M, Scuplak SM, Selby V, Straub V, Baily S, Bertoli M, Mayhew AG, Lofra RM, Murphy A, Wood C, Darin N, Eldblom J, Kimber E, Kroksmark AK, Lindstedt A, Michael E, Sofou K, Deconinck N, Christiaens A, Coppens S, DeCock K, De Vos voor E, Dorban F, Gilbert G, Rooze S, Tahon V, Van Coster R, Van Der Looven R, Vanlander A, Vens D, Verhelst H, Wenderickx B, Wittevrongel S, Farrar M, Berthon-Jones N, Doumit MA, Herbert KJ, Kandula T, Morrison M, O’Brien J, Richardson S, Ferreira Sampaio HA, Teoh HL, Ryan M, Carroll KM, De Valle KL, Villano D, Woodcock I, Yiu EM, Ardicli D, Gunbey C, Haliloglu VG, Karaduman AA, Konuskan B, Yildiz Sarikaya FG, Serdaroglu E, Tanyildiz M, Temucin CM, Yildirim M, Yilmaz OT, Arakawa R, Chiba Y, Eto K, Hirasawa K, Ikai T, Ito S, Ito Y, Kaburagi Y, Kaneko H, Matsumaru S, Matsushima N, Mizuochi K, Nagata S, Nakatsukasa H, Nishikawa A, Otani Y, Sato T, Shichiji M, Sugimoto K, Takeshita A, Yanagishita T, Yamauchi A, Takeshima Y, Fujino T, Fukuda N, Lee T, Oriyama K, Shibano T, Shimomura H, Tachikawa T, Tanaka Y, Taniguchi N, Chae JH, Choi SA, Chun SM, Jo H, Kim H, Kim SY, Lee JS, Lim BC, Shin HI, Son WS, Chan S, Chung AC, Yan CS, Stella C, Joseph CKW, Ng CS, Alvin HCC, Janice IJK, Wendy LWM, Chui-San MN, Ki NY, Shun TN, Connie WY, Virginia WC, Yvonne Y, Jong YJ, Chen TH, Chou PC, Chou YH, Chung HW, Hsu JH, Ju YH, Liang WC, Shih HH, Wang HY, Wu YC, Zeng YS
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- A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy. Neurology. 2017;89(17): 1811-1820 (Impact(2016)=7.592, Typ=Article; Journal Article; Clinical Trial, Phase III; Randomized Controlled Trial; Multicenter Study) Victor RG, Sweeney HL, Finkel R, McDonald CM, Byrne B, Eagle M, Goemans N, Vandenborne K, Dubrovsky AL, Topaloglu H, Miceli MC, Furlong P, Landry J, Elashoff R, Cox D, Tadalafil DMD Study Group , Abdel-Hamid H, Apkon S, Barohn R, Belousova E, Bertini E, Brandsema J, Bruno C, Burnette W, Butterfield R, Byrne B, Campbell C, Carlo J, Chae JH, Chandratre S, Comi G, Connolly A, De Groot I, Deconinck N, Dooley J, Dubrovsky A, Durigneux J, Finanger E, Finkel R, Frank LM, Goemans N, Harper A, Hattori A, Herguner O, Iannaccone S, Janas J, Jong YJ, Kirschner J, Komaki H, Kuntz N, Lee WT, Leung E, Mah J, Mathews K, McDonald C, Mercuri E, McMillan H, Mueller-Felber W, Lopez de Munain A, Nakamura A, Niks E, Ogata K, Pascual S, Pegoraro E, Pereon Y, Renfroe B, Sanka RB, Schallner J, Schara U, Selby K, Sendra II, Servais L, Smith E, Sparks S, Topaloglu H, Victor R, Vilchez JJ, Wicklund M, Wilichoswki E, Wong B
- Longitudinal data of patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study Neuromuscul Disord. 2017;27 2: S170-S170 (Impact(2016)=2.969, Typ=Journal Article) Annoussamy M, Lilien C, Gidaro T, Gargaun E, Che V, Schara U, DAmico A, Daron A, Cuisset J, Mayer M, Hernandez A, Vuillerot C, Fontaine S, de Lattre C, Bellance R, V , Buj-Bello A, Hogrel J, Landy H, Servais L
- Longitudinal data of the European prospective natural history study of patients with type 2 and 3 spinal muscular atrophy Neuromuscul Disord. 2017;27 2: S134-S134 (Impact(2016)=2.969, Typ=Article) Chabanon A, Annoussamy M, Daron A, Pereon Y, Cances C, Vuillerot C, Goemans N, Cuisset J, Laugel V, Schara U, Gargaun E, Gidaro T, Seferian A, Lowes L, Carlier P, Hogrel J, Czech C, Hermosilla R, Khwaja O, Servais L
- Safety and efficacy findings in the first-in-human trial (FIH) of the oral splice modulator branaplam in type 1 spinal muscular atrophy (SMA): interim results Neuromuscul Disord. 2017;27 2: S207-S208 (Impact(2016)=2.969, Typ=Journal Article) Charnas L, Voltz E, Pfister C, Peters T, Hartmann A, Berghs-Clairmont C, Praestgaard J, de Raspide M, Deconinck N, Born A, Baranello G, Bertini E, Schara U, Goemans N, Roubenoff R
- New myotubular myopathy classification Neuromuscul Disord. 2017;27 2: S169-S169 (Impact(2016)=2.969, Typ=Article) Lilien C, Annoussamy M, Gidaro T, Gargaun E, Che V, Schara U, DAmico A, Daron A, Cuisset J, Mayer M, Hernandez A, Vuillerot C, Fontaine S, deLattre C, Bellance R, Biancalana V, Buj-Bello A, Hogrel J, Landy H, Servais L
- Characterization of pulmonary function in 10-18 year old patients with Duchenne muscular dystrophy. Neuromuscul Disord. 2017;27(4): 307-314 (Impact(2016)=2.969, Typ=Article; Journal Article; Multicenter Study) Meier T, Rummey C, Leinonen M, Spagnolo P, Mayer OH, Buyse GM, DELOS Study Group , Bernert G, Knipp F, Buyse GM, Goemans N, Van den Hauwe M, Voit T, Doppler V, Gidaro T, Cuisset JM, Coopman S, Schara U, Lutz S, Kirschner J, Borell S, Will M, D’Angelo MG, Brighina E, Gandossini S, Gorni K, Falcier E, Politano L, D’Ambrosio P, Taglia A, Verschuuren JJ, Straathof CS, Vílchez Padilla JJ, Muelas Gómez N, Sejersen T, Hovmöller M, Jeannet PY, Bloetzer C, Iannaccone S, Castro D, Tennekoon G, Finkel R, Bönnemann C, McDonald C, Henricson E, Joyce N, Apkon S, Richardson RC
- A rare cause of congenital ptosis with external ophthalmoplegia: case report and differential diagnosis Neuromuscul Disord. 2017;27 2: S243-S243 (Impact(2016)=2.969, Typ=Journal Article) Sanchez-Albisua I, Kaiser O, Rupprich K, Kolbel H, Della A, Schara U
- Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy. Neuromuscul Disord. 2017;27(7): 631-634 (Impact(2016)=2.969, Typ=Article; Journal Article) Zaum AK, Stüve B, Gehrig A, Kölbel H, Schara U, Kress W, Rost S
- Outcome after Robotic-Assisted Thymectomy in Children and Adolescents with Acetylcholine Receptor Antibody-Positive Juvenile Myasthenia Gravis. Neuropediatrics. 2017;48(4): 315-322 (Impact(2016)=1.571, Typ=Article; Journal Article; Research Support, Non-U.S. Gov’t) Della Marina A, Kölbel H, Müllers M, Kaiser O, Ismail M, Swierzy M, Rueckert JC, Schara U
- Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III. PLoS ONE. 2017;12(3): e0173144 (Impact(2016)=2.806, Typ=Article; Journal Article) Kölbel H, Hauffa BP, Wudy SA, Bouikidis A, Della Marina A, Schara U
- Correction: Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III. PLoS ONE. 2017;12(4): e0175611 (Impact(2016)=2.806, Typ=Correction; Published Erratum) Kölbel H, Hauffa BP, Wudy SA, Bouikidis A, Della Marina A, Schara U
- Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy. Pediatr Pulmonol. 2017;52(4): 508-515 (Impact(2016)=2.758, Typ=Article; Journal Article; Clinical Trial, Phase III; Randomized Controlled Trial; Multicenter Study) Buyse GM, Voit T, Schara U, Straathof CS, D’Angelo MG, Bernert G, Cuisset JM, Finkel RS, Goemans N, Rummey C, Leinonen M, Mayer OH, Spagnolo P, Meier T, McDonald CM, DELOS Study Group
- Differential roles of hypoxia and innate immunity in juvenile and adult dermatomyositis. Acta Neuropathol Commun. 2016;4(1): 45 (Impact: liegt nicht vor, Typ=Journal Article; Article) Preuße C, Allenbach Y, Hoffmann O, Goebel HH, Pehl D, Radke J, Doeser A, Schneider U, Alten RH, Kallinich T, Benveniste O, von Moers A, Schoser B, Schara U, Stenzel W
- CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. Am J Hum Genet. 2016;98(2): 310-21 (Impact(2016)=9.025, Typ=Journal Article; Research Support, Non-U.S. Gov’t; Article) Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Pérez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Pérez-Cerdá C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ
- EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain. 2016;139(Pt 3): 765-81 (Impact(2016)=10.292, Typ=Journal Article; Research Support, Non-U.S. Gov’t; Article) Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H
- Congenital and childhood-onset myotonic dystrophy: importance of long-term data in natural history. Dev Med Child Neurol. 2016;58(7): 652 (Impact(2016)=3.116, Typ=Journal Article; Editorial) Schara U
- Mitochondrial dysfunction in liver failure requiring transplantation. J Inherit Metab Dis. 2016;39(3): 427-36 (Impact(2016)=3.97, Typ=Journal Article; Article) Lane M, Boczonadi V, Bachtari S, Gomez-Duran A, Langer T, Griffiths A, Kleinle S, Dineiger C, Abicht A, Holinski-Feder E, Schara U, Gerner P, Horvath R
- Infant with the early development of Neuropathy, Clubfoot and progressive Weakness of the Respiratory Musculature Monatsschr Kinderheilkd. 2016;164(2): 86-U9 Impact(2016)=0.31, Typ=Editorial) Lubojanski A, Lutz S, Kolbel H, Bouikidis A, Schara U
- Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy. Neuromuscul Disord. 2016;26(8): 473-80 (Impact(2016)=2.969, Typ=Journal Article; Article) McDonald CM, Meier T, Voit T, Schara U, Straathof CS, D’Angelo MG, Bernert G, Cuisset JM, Finkel RS, Goemans N, Rummey C, Leinonen M, Spagnolo P, Buyse GM, DELOS Study Group , Bernert G, Knipp F, Buyse GM, Goemans N, van den Hauwe M, Voit T, Doppler V, Gidaro T, Cuisset JM, Coopman S, Schara U, Lutz S, Kirschner J, Borell S, Will M, D’Angelo MG, Brighina E, Gandossini S, Gorni K, Falcier E, Politano L, D’Ambrosio P, Taglia A, Verschuuren JJ, Straathof CS, Vílchez Padilla JJ, Muelas Gómez N, Sejersen T, Hovmöller M, Jeannet PY, Bloetzer C, Iannaccone S, Castro D, Tennekoon G, Finkel R, Bönnemann C, McDonald C, Henricson E, Joyce N, Apkon S, Richardson RC
- Invitation and a Warm Welcome to the 42nd Annual Meeting of the Society for Neuropediatrics. Neuropediatrics. 2016;47(2): 69 (Impact(2016)=1.571, Typ=Editorial; Editorial) Schara U, Lücke T
- Abstracts of the 42nd Annual Meeting of the Society for Neuropediatrics Neuropediatrics. 2016;47 1: – (Impact(2016)=1.571, Typ=Editorial) Schara U, Lucke T
- Rudnik-Schöneborn S, Tölle D, Senderek J, Eggermann K, Elbracht M, Kornak U, von der Hagen M, Kirschner J, Leube B, Müller-Felber W, Schara U, von Au K, Wieczorek D, Bußmann C, Zerres K. Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients. Clin Genet. 2016 Jan;89(1):34-43
- Tacke M, Gerstl L, Heinen F, Heukaeufer I, Bonfert M, Bast T, Cornell S, Neubauer BA, Borggraefe I; German HEAD Study group. Effect of anticonvulsive treatment on neuropsychological performance in children with BECTS. Eur J Paediatr Neurol. 2016 Nov; 20(6):874-879.
- Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E.
Clin Neuropathol. 2014;33(5): 335-43 (Impact(2014)=1.528, Impact(2016)=1.532, Typ=Journal Article; Research Support, Non-U.S. Gov’t; Article) Elbracht M, Senderek J, Schara U, Nolte K, Klopstock T, Roos A, Reimann J, Zerres K, Weis J, Rudnik-Schöneborn S - Growth and psychomotor development of patients with Duchenne muscular dystrophy. Eur J Paediatr Neurol. 2014;18(1): 38-44 (Impact(2014)=2.301, Impact(2016)=2.013, Typ=Journal Article; Article) Sarrazin E, Hagen MV, Schara U, von Au K, Kaindl AM
- Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA. 2014;312(1): 68-77 (Impact(2014)=35.289, Impact(2016)=44.405, Typ=Journal Article; Research Support, Non-U.S. Gov’t; Article) Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF
- Somatropin treatment of spinal muscular atrophy: A placebo-controlled, double-blind crossover pilot study. Neuromuscul Disord. 2014;24(2): 134-42 (Impact(2014)=2.638, Impact(2016)=2.969, Typ=Journal Article; Article)
Kirschner J, Schorling D, Hauschke D, Rensing-Zimmermann C, Wein U, Grieben U, Schottmann G, Schara U, Konrad K, Müller-Felber W, Thiele S, Wilichowski E, Hobbiebrunken E, Stettner GM, Korinthenberg R - Juvenile myasthenia gravis: recommendations for diagnostic approaches and treatment. Neuropediatrics. 2014;45(2): 75-83 (Impact(2014)=1.24, Impact(2016)=1.571, Typ=Journal Article; Review) Della Marina A, Trippe H, Lutz S, Schara U
- Releases from the society for paediatric Neuropediatrics. 2014;45(2): 132-132 (Impact(2014)=1.24, Impact(2016)=1.571, Typ=Editorial) Schara U
- Xp21/A translocation: a rarely considered genetic cause for manifesting carriers of duchenne muscular dystrophy. Neuropediatrics. 2014;45(5): 333-5 (Impact(2014)=1.24, Impact(2016)=1.571, Typ=Journal Article; Article)
Trippe H, Wieczorek S, Kötting J, Kress W, Schara U - Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, Béroud C, Mathews KD, Moore SA, Bellini J, Rutkowski A, North KN; Members of International Standard of Care Committee for Congenital Muscular Dystrophies. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord. 2014 Apr;24(4):289-311
- Wiesweg M, Aydin S, Koeninger A, Stein A, Schara U, van Roye C, Hense J, Welt A, Schuler M. Administration of Gemcitabine for Metastatic Adenocarcinoma during Pregnancy: A Case Report and Review of the Literature. AJP Rep. 2014 May;4(1):17-22.
- Levetiracetam vs. sulthiame in benign epilepsy with centrotemporal spikes in childhood: a double-blinded, randomized, controlled trial (German HEAD Study).
Eur J Paediatr Neurol. 2013;17(5): 507-14 (Impact(2013)=1.934, Impact(2016)=2.013, Typ=Journal Article; Research Support, Non-U.S. Gov’t; Article) Borggraefe I, Bonfert M, Bast T, Neubauer BA, Schotten KJ, Maßmann K, Noachtar S, Tuxhorn I, May TW, Heinen F, German HEAD Study Group , Baumeister FA, Baethmann M, Bentele K, Blank C, Blank CM, Bode H, Bosch F, Brandl U, Brockmann K, Dahlem P, Ernst JP, Feldmann E, Fiedler A, Gerigk M, Heß S, Hikel C, Hoffmann HG, Kieslich M, Klepper J, Kluger G, Koch H, Koch W, Korinthenberg R, Krois I, Kühne H, Kurlemann G, Mandl M, Mause U, Muhle H, Navratil P, Opp J, Penzien J, Prietsch V, Quattländer A, Rating D, Schara U, Shamdeen MG, Sprinz A, Stephani U, Straßburg HM, Töpke B, Trollmann R, Tuschen-Hofstätter E, Waltz S, Weber G, Wien FU, Wolff M - Morphological spectrum and clinical features of myopathies with tubular aggregates.
Histol Histopathol. 2013;28(8): 1041-54 (Impact(2013)=2.236, Impact(2016)=2.025, Typ=Journal Article; Article) Funk F, Ceuterick-de Groote C, Martin JJ, Meinhardt A, Taratuto AL, De Bleecker J, Van Coster R, De Paepe B, Schara U, Vorgerd M, Häusler M, Koppi S, Maschke M, De Jonghe P, Van Maldergem L, Noel S, Zimmermann CW, Wirth S, Isenmann S, Stadler R, Schröder JM, Schulz JB, Weis J, Claeys KG - Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency. Hum Mol Genet. 2013;22(22): 4602-15 (Impact(2013)=6.677, Impact(2016)=5.34, Typ=Journal Article; Research Support, Non-U.S. Gov’t; Article) Boczonadi V, Smith PM, Pyle A, Gomez-Duran A, Schara U, Tulinius M, Chinnery PF, Horvath R
- Pediatric herpes simplex virus encephalitis: a retrospective multicenter experience.
J Child Neurol. 2013;28(3): 321-31 (Impact(2013)=1.666, Impact(2016)=1.378, Typ=Journal Article; Article) Schleede L, Bueter W, Baumgartner-Sigl S, Opladen T, Weigt-Usinger K, Stephan S, Smitka M, Leiz S, Kaiser O, Kraus V, van Baalen A, Skopnik H, Hartmann H, Rostasy K, Lücke T, Schara U, Häusler M - NDUFS8-related Complex I Deficiency Extends Phenotype from „PEO Plus“ to Leigh Syndrome. JIMD Rep. 2013;10: 17-22 (Impact: liegt nicht vor, Typ=Journal Article)
Marina AD, Schara U, Pyle A, Möller-Hartmann C, Holinski-Feder E, Abicht A, Czermin B, Lochmüller H, Griffin H, Santibanez-Koref M, Chinnery PF, Horvath R - The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study.
Muscle Nerve. 2013;48(3): 343-56 (Impact(2013)=2.311, Impact(2016)=2.605, Typ=Journal Article; Randomized Controlled Trial; Multicenter Study; Article)
McDonald CM, Henricson EK, Abresch RT, Florence JM, Eagle M, Gappmaier E, Glanzman AM, PTC124-GD-007-DMD Study Group , Spiegel R, Barth J, Elfring G, Reha A, Peltz S, Ryan M, Jones K, Goemans N, Campbell C, Mah J, Selby K, Voit T, Chabrol B, Pereon Y, Schara U, Kirschner J, Bertini E, Mercuri E, Comi G, Nevo Y, Vilchez J, Colomer J, Children S, Tulinius M, Sejersen T, Bushby K, Muntoni F, Quinlivan RC, Wong B, Finkel RS, Sampson JB, Flanigan KM, Butterfield R, Day JW, Mathews K, Darras BT, Apkon SD, Parsons J, Barohn R, Connolly A, Iannaccone S, Sproule DM, Kaufman P, Han JJ, Joyce NC, Renfroe J, Russman BS, Burns-Wechsler S, Moore SA, Sweeney HL, Coleman K - The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study. Muscle Nerve. 2013;48(3): 357-68 (Impact(2013)=2.311, Impact(2016)=2.605, Typ=Journal Article; Randomized Controlled Trial; Multicenter Study; Research Support, Non-U.S. Gov’t; Research Support, U.S. Gov’t, Non-P.H.S.; Article) McDonald CM, Henricson EK, Abresch RT, Florence J, Eagle M, Gappmaier E, Glanzman AM, PTC124-GD-007-DMD Study Group , Spiegel R, Barth J, Elfring G, Reha A, Peltz SW, Ryan M, Jones K, Goemans N, Campbell C, Mah J, Selby K, Voit T, Chabrol B, Pereon Y, Schara U, Kirschner J, Bertini E, Mercuri E, Comi G, Nevo Y, Vilchez J, Colomer J, Children S, Tulinius M, Sejersen T, Bushby K, Muntoni F, Quinlivan RC, Wong B, Finkel RS, Sampson JB, Flanigan KM, Butterfield R, Day JW, Mathews K, Darras BT, Apkon SD, Parsons J, Barohn R, Connolly A, Iannaccone S, Sproule DM, Kaufman P, Han JJ, Joyce NC, Renfroe J, Russman BS, Burns-Wechsler S, Moore SA, Sweeney HL, Coleman K
- De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy. Neurology. 2013;81(22): 1953-8 (Impact(2013)=8.303, Impact(2016)=7.592, Typ=Journal Article; Article) Mademan I, Deconinck T, Dinopoulos A, Voit T, Schara U, Devriendt K, Meijers B, Lerut E, De Jonghe P, Baets J
- Self-reported quality of life and depressive symptoms in children, adolescents, and adults with Duchenne muscular dystrophy: a cross-sectional survey study.
Neuropediatrics. 2013;44(5): 257-64 (Impact(2013)=1.104, Impact(2016)=1.571, Typ=Journal Article; Article) Elsenbruch S, Schmid J, Lutz S, Geers B, Schara U - Transaction of the Society for Pediatric Neurology Neuropediatrics. 2013;44(4): 179-179 (Impact(2013)=1.104, Impact(2016)=1.571, Typ=Editorial)
Schara U, Plecko B - Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy. PLoS Genet. 2013;9(6): e1003430 (Impact(2013)=8.167, Impact(2016)=6.1, Typ=Journal Article; Research Support, Non-U.S. Gov’t; Article) Böhm J, Vasli N, Maurer M, Cowling B, Shelton GD, Kress W, Toussaint A, Prokic I, Schara U, Anderson TJ, Weis J, Tiret L, Laporte J
- Della Marina A, Lutz S, Trippe H, Schara U. Myasthenia gravis bei Kindern und Jugendlichen. Klinischer Verlauf und Therapie. Pädiat.prax. 80, 437-446 (2013)