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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
Chaperones in sporadic inclusion body myositis-Validation of proteomic data
Guttsches AK, Jacobsen F, Schreiner A, et al.
Muscle & Nerve, 2019
The heterozygous R155C VCP mutation: Toxic in humans! Harmless in mice?
Clemen CS, Clemen CS, Winter L, et al.
Biochemical and biophysical research communications, 2018, 503, 4, p 2770
Treadmill Training with HAL Exoskeleton-A Novel Approach for Symptomatic Therapy in Patients with Limb-Girdle Muscular Dystrophy-Preliminary Study
Sczesny-Kaiser M, Kowalewski R, Schildhauer TA, et al.
Frontiers in neuroscience, 2017, 11
Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement
Unger A, Dekomien G, Guttsches A, et al.
Neurology, 2016, 87, 21, p 2235
Muscle imaging data in late-onset Pompe disease reveal a correlation between the pre-existing degree of lipomatous muscle alterations and the efficacy of long-term enzyme replacement therapy
Gruhn KM, Heyer CM, Guttsches AK, et al.
Molecular genetics and metabolism reports, 2015, 3, p 58
50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation
Walter MC, Rossius M, Zitzelsberger M, et al.
Neuromuscular disorders : NMD, 2015, 25, 7, p 577
Urge Incontinence and Gastrointestinal Symptoms in Adult Patients With Pompe Disease: A Cross-Sectional Survey
Karabul N, Skudlarek A, Berndt J, et al.
JIMD reports, 2014, 17, p 53
Pregnancy and delivery in women with Pompe disease
Karabul N, Berndt J, Kornblum C, et al.
Molecular genetics and metabolism, 2014, 112, 2, p 148
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies
Semmler AL, Sacconi S, Bach J, et al.
Orphanet journal of rare diseases, 2014, 9
Creatine for treating muscle disorders (Review)
Kley RA, Tarnopolsky MA, Vorgerd M
Cochrane Database of Systematic Reviews, 2013, 6, CD004760, p. 1-56
Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy
Maerkens A, Kley RA, Olivé M, et al.
Journal of Proteomics, 2013, 90, p. 14-27
Treatment of dysferlinopathy with deflazacort : a double-blind, placebo-controlled clinical trial
Walter MC, Reilich P, Thiele S, et al.
Orphanet journal of rare diseases, 2013, 8, 1, 26, p. 1-15
Rippling muscle disease : variable phenotype in a family with five afflicted members
Jacobi C, Ruscheweyh R, Vorgerd M, et al.
Muscle & Nerve, 2010, 41, 1, p. 128-132
Therapeutic options in other metabolic myopathies
Vorgerd M
Neurotherapeutics, 2008, 5, 4, p. 579-582
Distinct muscle imaging patterns in myofibrillar myopathies
Fischer D, Kley RA, Strach K, et al.
Neurology, 2008, 71, 10, p 758
Phenotype of three putative novel limb girdle muscular dystrophies (LGMD) – Exclusion of all known LGMD loci with microsatellite analysis (Poster)
Collectif, von der Hagen M, Walter MC, et al.
Neuromuscular disorders : NMD, 2008, 18, 9-10, p. 818-819
The phenotype of myofibrillar myopathy associated with p.W2710X mutation in filamin C : a study of 31 German patients
Collectif, Kley RA, Kirschner J, et al.
Neuromuscular disorders : NMD, 2008, 18, 9-10, p. 725
Treatment of glycogenosys type V (McArdle disease) with creatine and ketogenic diet with clinical scores and with 31P-MRS on working leg muscle
Vorgerd M, Zange J
Acta myologica, 2007, XXVI, 1, p. 61-63
Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF
Diers A, Carl M, Stoltenburg-Didinger G, et al.
Neuromuscular disorders : NMD, 2007, 17, 2, p. 157-162
Clinical and morphological phenotype of the filamin myopathy : a study of 31 German patients
Kley RA, Hellenbroich Y, van der Ven PFM, et al.
Brain, 2007, 130, 12, p. 3250-3264
Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P
Walter MC, Reilich P, Huebner A, et al.
Brain, 2007, 130, 6, p. 1485-1496
The pathomechanism of filaminopathy : altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy
Lowe T, Kley RA, van der Ven PFM, et al.
Human molecular genetics, 2007, 16, 11, p. 1351-1358
Nesprin-1 and -2 are involved in the pathogenesis of Emery-Dreifuss muscular dystrophy and are critical for nuclear envelope integrity
Zhang Q, Bethmann C, Worth NF, et al.
Human molecular genetics, 2007, 16, 23, p. 2816-2833
Gentamicin treatment in McArdle disease : failure to correct myophosphorylase deficiency
Schroers A, Kley RA, Stachon A, et al.
Neurology, 2006, 66, 2, p. 285-286
