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Journal of Neurology|June 25, 2024
Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron diseaseAnnalisa Schaub, Hannes Erdmann, Veronika Scholz, et al.Orphanet Journal of Rare Diseases|May 6, 2016
Disease burden of spinal muscular atrophy in GermanyConstanze Klug, Olivia Schreiber-Katz, Simone Thiele, et al.Orphanet Journal of Rare Diseases|December 19, 2014
Comparative cost of illness analysis and assessment of health care burden of Duchenne and Becker muscular dystrophies in GermanyOlivia Schreiber-Katz, Constanze Klug, Simone Thiele, et al.Neuromuscular Disorders : NMD|July 2, 2017
Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patientElena Ikenberg, Ivan Karin, Birgit Ertl-Wagner, et al.Neuromuscular Disorders : NMD|February 23, 2010
The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathyPeter Reilich, Benedikt Schoser, Nicolai Schramm, et al.Journal of Neurology|January 17, 2003
Creatine monohydrate in myotonic dystrophy: a double-blind, placebo-controlled clinical studyMaggie C Walter, Peter Reilich, Hanns Lochmüller, et al.Neurology|March 29, 2019
Cost of illness in Charcot-Marie-Tooth neuropathy: Results from GermanyElisabeth Schorling, Simone Thiele, Laura Gumbert, et al.European Neurology|July 11, 2009
Lower limb radiology of distal myopathy due to the S60F myotilin mutationAlisdair McNeill, Daniel Birchall, Volker Straub, et al.Neuromuscular Disorders : NMD|January 11, 2005
Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophyMaggie C Walter, Thomas N Witt, Beate Schlotter Weigel, et al.Journal of Neurology|February 22, 2011
A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A)Peter Reilich, Sabine Krause, Nicolai Schramm, et al.Pageof 5