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Orphanet Journal of Rare Diseases|June 26, 2019
De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in GermanyKirsten König, Astrid Pechmann, Simone Thiele, et al.Der Nervenarzt|November 5, 2017
[Spinal muscular atrophy : Time for newborn screening?]K Vill, A Blaschek, U Schara, 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.Patient Related Outcome Measures|July 2, 2025
Agreement Between Child Self- and Parent Proxy-Reports of Health-Related Quality of Life in Spinal Muscular Atrophy: Preliminary Insights from a Nationwide Patient Registry in GermanyErik Landfeldt, Berenike Leibrock, Justine Hussong, et al.Neuromuscular Disorders : NMD|March 16, 2013
Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathySarah Feldkirchner, Maggie C Walter, Stefan Müller, et al.Neurology|March 29, 2019
Cost of illness in Charcot-Marie-Tooth neuropathy: Results from GermanyElisabeth Schorling, Simone Thiele, Laura Gumbert, et al.Journal of Cranio-Maxillo-Facial Surgery : Official Publication of the European Association for Cranio-Maxillo-Facial Surgery|June 21, 2014
The prevalence of human papilloma virus (HPV) infections in oral squamous cell carcinomas: a retrospective analysis of 88 patients and literature overviewM Krüger, A M Pabst, C Walter, et al.Journal of Substance Use and Addiction Treatment|November 20, 2024
Feasibility and outcomes of a trauma-informed model of care in residential treatment for substance useZ C Walter, M Carlyle, V Mefodeva, et al.Neurology|January 24, 2002
Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromesL Merlini, R Gooding, H Lochmüller, et al.Pageof 73