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Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study
Annoussamy M, Seferian AM, Daron A, et al.
Annals of clinical and translational neurology, 2020
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
Alonso-Perez J, Gonzalez-Quereda L, Bello L, et al.
Brain : a journal of neurology, 2020, 143, 9, p 2696
A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism
Meinke P, Kerr ARW, Czapiewski R, et al.
EBiomedicine, 2020, 51
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy
Campbell C, Barohn RJ, Bertini E, et al.
Journal of comparative effectiveness research, 2020
Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?
Muller-Felber W, Vill K, Schwartz O, et al.
Journal of Neuromuscular Diseases, 2020, 7, 2, p 109
Immunofluorescence-Based Analysis of Caveolin-3 in the Diagnostic Management of Neuromuscular Diseases
Roos A, Hathazi D, Schara U
Methods in molecular biology (Clifton, N.J.), 2020, 2169, p 197
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series
Villar-Quiles RN, von der Hagen M, Metay C, et al.
Neurology, 2020, 95, 11
250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6-8 September 2019, Hoofdorp, the Netherlands
Neuhaus SB, Wallgren-Pettersson C, BÃ nnemann CG, et al.
Neuromuscular disorders : NMD, 2020
Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1
Pechmann A, Baumann M, Bernert G, et al.
Journal of Neuromuscular Diseases, 2019
Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophy
Servais L, Straathof CSM, Schara U, et al.
Neuromuscular disorders : NMD, 2019
One year of newborn screening for SMA - Results of a German pilot project
Vill K, Kolbel H, Schwartz O, et al.
Journal of Neuromuscular Diseases, 2019, 6, 4, 503
Inflammation-induced fibrosis in skeletal muscle of female carriers of Duchenne muscular dystrophy
Preube C, von Moers A, Kolbel H, et al.
Neuromuscular disorders : NMD, 2019, 29, 7, p 487
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders
Geis T, Rodl T, Topaloglu H, et al.
Orphanet journal of rare diseases, 2019, 14, 1
Effect and safety of treatment with ACE-inhibitor Enalapril and beta-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial.
Dittrich S, Graf E, Trollmann R, et al.
Orphanet journal of rare diseases, 2019, 14, n1, p 105
Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients.
Kolbel H, Hathazi D, Jennings M, et al.
Frontiers in neurology, 2019, 10, p 470
X-linked myotubular myopathy: A prospective international natural history study
Annoussamy M, Lilien C, Gidaro T, et al.
Neurology, 2019, 92, 16
Characteristic clinical and ultrastructural findings in nesprinopathies
Kolbel H, Abicht A, Schwartz O, et al.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2019, 23, 2, p 254
SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy
Pechmann A, Konig K, Bernert G, et al.
Orphanet journal of rare diseases, 2019, 14, 1, p 18
Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study.
Chabanon A, Seferian AM, Daron A, et al.
PLoS ONE, 2018, e0201004
Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany
Pechmann A, Langer T, Schorling D, et al.
Journal of Neuromuscular Diseases, 2018, 5, 2, p 135
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
Hinze CH, Oommen PT, Dressler F, et al.
Pediatric rheumatology online journal, 2018, 16, 1
A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial
Crow RA, Hart KA, McDermott MP, et al.
Trials, 2018, 19, 1
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization
Wang H, Salter CG, Refai O, et al.
Brain : a journal of neurology, 2017, 140, 11, p 2838
Developing standardized corticosteroid treatment for Duchenne muscular dystrophy
Guglieri M, Bushby K, McDermott MP, et al.
Contemporary clinical trials, 2017, 58, p 34
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
McDonald CM, Campbell C, Torricelli RE, et al.
Lancet (London, England), 2017, 390, 10101, p 1489
