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Measuring Outcomes in Adults with Spinal Muscular Atrophy - Challenges and Future Directions - Meeting Report
Sansone VA, Walter MC, Attarian S, et al.
Journal of Neuromuscular Diseases, 2020
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9
Murphy LB, Schreiber-Katz O, Rafferty K, et al.
Annals of clinical and translational neurology, 2020, 7, 5, p 757
Pregnancy outcome in Charcot-Marie-Tooth disease: results of the CMT-NET cohort study in Germany
Rudnik-Schöneborn S, Thiele S, Walter MC, et al.
European journal of neurology, 2020, 27, 8, p 1390
Pregnancy outcome in Charcot-Marie-Tooth disease: results of the CMT-NET cohort study in Germany
Rudnik-Schöneborn S, Thiele S, Walter MC, et al.
European journal of neurology, 2020, 27, 8
Somatic gene editing ameliorates skeletal and cardiac muscle failure in pig and human models of Duchenne muscular dystrophy
Moretti A, Fonteyne L, Giesert F, et al.
Nature medicine, 2020
Utility of maximum inspiratory and expiratory pressures as a screening method for respiratory insufficiency in slowly progressive neuromuscular disorders
Wenninger S, Stahl K, Wirner C, et al.
Neuromuscular disorders : NMD, 2020, 30, 8, p 640
MYO-MRI diagnostic protocols in genetic myopathies.
Chardon JW, Diaz-Manera J, Tasca G, et al.
Neuromuscular disorders : NMD, 2019, 29, 11, p 827
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)
Barp A, Laforêt P, Bello L, et al.
Journal of neurology, 2019
Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 - A Prospective Observational Study
Walter MC, Wenninger S, Thiele S, et al.
Journal of Neuromuscular Diseases, 2019
Cost of illness in Charcot-Marie-Tooth neuropathy: Results from Germany
Schorling E, Thiele S, Gumbert L, et al.
Neurology, 2019, 92, 17
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
De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany
Konig K, Pechmann A, Thiele S, et al.
Orphanet journal of rare diseases, 2019, 14, 1, p 152
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials
Diaz-Manera J, Fernández-Torrón R, Llauger J, et al.
Journal of neurology, neurosurgery, and psychiatry, 2018
MRI in sarcoglycanopathies: a large international cohort study
Tasca G, Monforte M, Diaz-Manera J, et al.
Journal of neurology, neurosurgery, and psychiatry, 2018, 89, 1, p 72
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study
Moore UR, Jacobs M, Fernández-Torrón R, et al.
Journal of neurology, neurosurgery, and psychiatry, 2018, 89, 11, p 1224
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
Wiessner M, Roos A, Munn CJ, et al.
American journal of human genetics, 2017, 100, 3, p 523
Biomarkers predict outcome in Charcot- Marie-Tooth disease 1A
Fledrich R, Mannil M, Leha A, et al.
Journal of neurology, neurosurgery, and psychiatry, 2017, 88, 11, p 941
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
Koeks Z, Bladen CL, Salgado D, et al.
Journal of Neuromuscular Diseases, 2017, 4, 4, p 293
Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany
Vill K, Blaschek A, Gläser D, et al.
Journal of Neuromuscular Diseases, 2017, 4, 4, p 315
Guidelines on dermatomyositis - excerpt from the interdisciplinary S2k guidelines on myositis syndromes by the German Society of Neurology
Sunderkotter C, Nast A, Worm M, et al.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG, 2016, 14, 3, p 321
The Clinical Outcome Study for dysferlinopathy: An international multicenter study
Harris E, Bladen CL, Mayhew A, et al.
Neurology. Genetics, 2016, 2, 4
Disease burden of spinal muscular atrophy in Germany
Klug C, Schreiber-Katz O, Thiele S, et al.
Orphanet journal of rare diseases, 2016, 11, 1
Treatment for inclusion body myositis
Rose MR, Jones K, Leong K, et al.
Cochrane Database of Systematic Reviews, 2015, 6
Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1
Larsen M, Rost S, El Hajj N, et al.
European journal of human genetics : EJHG, 2015, 23, 6, p 808
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations
Bladen CL, Salgado D, Monges S, et al.
Human mutation, 2015, 36, 4, p 395
