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Journal of Medical Economics|June 1, 2022
Assessment of face validity of a disease model of nonsense mutation Duchenne muscular dystrophy: a multi-national Delphi panel studyErik Landfeldt, Rongrong Zhang, Anne-Marie Childs, et al.Der Nervenarzt|January 9, 2019
[Treatment evaluation in patients with 5q-associated spinal muscular atrophy : Real-world experience]Maggie C Walter, Bianca Dräger, Rene Günther, et al.Journal of Neuromuscular Diseases|July 3, 2026
Functional disease progression in children with inherited peripheral neuropathies: A prospective cohort studyKatharina Vill, Moritz Tacke, Anna König, et al.Journal of Neurology|February 11, 2010
Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathyPeter Reilich, Nicolai Schramm, Benedikt Schoser, et al.Neuromuscular Disorders : NMD|January 24, 2007
A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assayAstrid Milic, Nathalie Daniele, Hanns Lochmüller, et al.Journal of Neurology|April 21, 2010
Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2Maggie C Walter, Birgit Czermin, Solvig Muller-Ziermann, et al.Journal of Neurology|December 16, 2003
Variable reduction of caveolin-3 in patients with LGMD2B/MMMaggie C Walter, Christian Braun, Matthias Vorgerd, et al.Neurology. Genetics|December 20, 2024
Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard DiagnosticsMartin Wendlandt, Hannes Erdmann, Simone Rost, et al.Orphanet Journal of Rare Diseases|February 15, 2013
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trialMaggie C Walter, Peter Reilich, Simone Thiele, et al.Neuromolecular Medicine|November 18, 2015
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory NeuropathySaranya Suriyanarayanan, Mari Auranen, Jussi Toppila, et al.Pageof 16