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Neurology|July 26, 2015
SQSTM1 splice site mutation in distal myopathy with rimmed vacuolesRobert C Bucelli, Khalid Arhzaouy, Alan Pestronk, et al.Circulation. Cardiovascular Genetics|December 25, 2009
Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophyRita Wen Kaspar, Hugh D Allen, Will C Ray, et al.Seminars in Oncology|April 30, 2003
Treatment recommendations in Waldenstrom's macroglobulinemia: consensus panel recommendations from the Second International Workshop on Waldenstrom's MacroglobulinemiaMorie A Gertz, Athanasios Anagnostopoulos, Kenneth Anderson, et al.Neurobiology of Aging|April 20, 2013
Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosisMatthew B Harms, Janet Cady, Craig Zaidman, et al.Muscle & Nerve|September 26, 2008
Clinical features of late-onset Pompe disease: a prospective cohort studyJohn H J Wokke, Diana M Escolar, Alan Pestronk, et al.Muscle & Nerve|June 24, 2011
CINRG pilot trial of coenzyme Q10 in steroid-treated Duchenne muscular dystrophyChristopher F Spurney, Carolina Tesi Rocha, Erik Henricson, et al.Biorxiv : the Preprint Server for Biology|April 15, 2024
Seeding competent TDP-43 persists in human patient and mouse muscleEileen M Lynch, Sara Pittman, Jil Daw, et al.Science Translational Medicine|November 27, 2024
Seeding-competent TDP-43 persists in human patient and mouse muscleEileen M Lynch, Sara Pittman, Jil Daw, et al.Annals of Neurology|December 15, 2015
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signsObaid M Albulym, Marina L Kennerson, Matthew B Harms, et al.Human Molecular Genetics|January 5, 2010
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1Christina A Gurnett, David M Desruisseau, Kevin McCall, et al.Pageof 14