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European Journal of Human Genetics : EJHG|November 6, 2014
Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1Mirjam Larsen, Simone Rost, Nady El Hajj, et al.Journal of Neuromuscular Diseases|October 10, 2019
Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 - A Prospective Observational StudyMaggie C Walter, Stephan Wenninger, Simone Thiele, et al.Journal of Neurology|December 4, 2003
Analysis of HLA class I and II alleles in sporadic inclusion-body myositisJohannes B Lampe, Gudrun Gossrau, Andrea Kempe, et al.Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|May 18, 2018
The multifaceted clinical presentation of VCP-proteinopathy in a Greek familyGeorge K Papadimas, George P Paraskevas, Thomas Zambelis, et al.Neuromuscular Disorders : NMD|July 24, 2007
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patientsWolfgang Müller-Felber, Rita Horvath, Klaus Gempel, et al.Scientific Reports|September 17, 2016
Progressive muscle proteome changes in a clinically relevant pig model of Duchenne muscular dystrophyThomas Fröhlich, Elisabeth Kemter, Florian Flenkenthaler, et al.Journal of Neuromuscular Diseases|March 1, 2021
Improving Care and Empowering Adults Living with SMA: A Call to Action in the New Treatment EraMaggie C Walter, Claudia Chiriboga, Tina Duong, et al.Human Gene Therapy|February 26, 2009
Efficient and fast functional screening of microdystrophin constructs in vivo and in vitro for therapy of duchenne muscular dystrophyLouise H Jørgensen, Nancy Larochelle, Kristian Orlopp, et al.Neuromuscular Disorders : NMD|June 26, 2009
Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 alleleNatalia Garcia-Angarita, Janbernd Kirschner, Mandy Heiliger, et al.Neuromuscular Disorders : NMD|January 8, 2021
Location matters - Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2PPeter Reilich, Beate Schlotter, Federica Montagnese, et al.Pageof 17