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Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
Scalco RS, Lucia A, Santalla A, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 330
Efficacy and safety of rozanolixizumab in moderate-to-severe generalised myasthenia gravis: A phase 2 RCT
Bril V, Benatar M, Andersen H, et al.
Neurology, 2020
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
Pinos T, Andreu AL, Bruno C, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 187
Deep phenotyping of Facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging
Giacomucci G, Monforte M, Diaz-Manera J, et al.
European journal of neurology, 2020
Evaluation of inflammatory lesions over 2 years in facioscapulohumeral muscular dystrophy
Dahlqvist JR, Poulsen NS, Østergaard ST, et al.
Neurology, 2020
MRI IN NEUROMUSCULAR DISEASES: AN EMERGING DIAGNOSTIC TOOL AND BIOMARKER FOR PROGNOSIS AND EFFICACY
Dahlqvist JR, Widholm P, Leinhard OD, et al.
Annals of neurology, 2020
Intrarater reliability and validity of outcome measures in myotonic dystrophy type 1
Knak KL, Sheikh AM, Andersen H, et al.
Neurology, 2020, 94, 24
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
A new glycogen storage disease caused by a dominant PYGM mutation
Echaniz-Laguna A, Lornage X, Laforêt P, et al.
Annals of neurology, 2020
'Minimal symptom expression' in patients with acetylcholine receptor antibody-positive refractory generalized myasthenia gravis treated with eculizumab
Vissing J, Jacob S, Fujita KP, et al.
Journal of neurology, 2020
Titrating a modified ketogenic diet for patients with McArdle disease: A pilot study
Lokken N, Hansen KK, Storgaard JH, et al.
Journal of inherited metabolic disease, 2020
Physical activity in myotonic dystrophy type 1
Knak KL, Sheikh AM, Witting N, et al.
Journal of neurology, 2020
Late-onset MADD: a rare cause of cirrhosis and acute liver failure?
Soldath P, Lund A, Vissing J
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2020, 39, 1, p 19
Responsiveness of outcome measures in myotonic dystrophy type 1
Knak KL, Sheikh AM, Witting N, 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
Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1
Hildonen M, Knak KL, Duno M, et al.
Genes, 2020, 11, 8, p 936
Age-Associated Salivary MicroRNA Biomarkers for Oculopharyngeal Muscular Dystrophy
Raz V, Kroon RHMJM, Mei H, et al.
International Journal of molecular sciences, 2020, 21, 17
Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies
Verdu-Diaz J, Alonso-Perez J, Nunez-Peralta C, et al.
Neurology, 2020, 94, 10, p e1094
Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy (MOTOR trial)
Madsen KL, Buch AE, Cohen BH, et al.
Neurology, 2020
Contractile properties are impaired in congenital myopathies
Eisum AV, Fornander F, Poulsen NS, et al.
Neuromuscular disorders : NMD, 2020, 30, 8, p 649
Results of an open label feasibility study of sodium valproate in people with McArdle disease
Scalco RS, Stemmerik M, Lokken N, et al.
Neuromuscular disorders : NMD, 2020, 30, 9, p 734
Exercise therapy for muscle and lower motor neuron diseases
Sheikh AM, Vissing J
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2019, 38, 4, p 215
MYO-MRI diagnostic protocols in genetic myopathies.
Chardon JW, Diaz-Manera J, Tasca G, et al.
Neuromuscular disorders : NMD, 2019, 29, 11, p 827
Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment
Laforêt P, Inoue M, Goillot E, et al.
Acta neuropathologica communications, 2019, 7, 1, p 167
POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy
Vissing J, Johnson K, Töpf A, et al.
Annals of neurology, 2019
