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European Journal of Human Genetics : EJHG|January 29, 2015
A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophySiaw H Wong, Belinda J McClaren, Alison Dalton Archibald, et al.Neuromuscular Disorders : NMD|May 19, 2020
Is it Pompe Disease? Australian diagnostic considerationsMichel Tchan, Robert Henderson, Andrew Kornberg, et al.Neuromuscular Disorders : NMD|June 18, 2010
Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3Leigh B Waddell, Michaela Kreissl, Andrew Kornberg, et al.Neuromuscular Disorders : NMD|July 27, 2012
Mutations in TPM2 and congenital fibre type disproportionNigel F Clarke, Leigh B Waddell, Lilian T L Sie, et al.Neurology|March 20, 2013
International Pediatric MS Study Group Clinical Trials Summit: meeting reportTanuja Chitnis, Marc Tardieu, Maria Pia Amato, et al.Multiple Sclerosis (Houndmills, Basingstoke, England)|April 11, 2013
International Pediatric Multiple Sclerosis Study Group criteria for pediatric multiple sclerosis and immune-mediated central nervous system demyelinating disorders: revisions to the 2007 definitionsLauren B Krupp, Marc Tardieu, Maria Pia Amato, et al.Journal of Medical Genetics|March 18, 2020
A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathyMacarena Cabrera-Serrano, David Joseph Coote, Dimitar Azmanov, et al.Muscle & Nerve|February 14, 2024
Exploring caregivers' attitudes and beliefs about nutrition and weight management for young people with Duchenne muscular dystrophyNatassja Billich, Paula Bray, Helen Truby, et al.American Journal of Medical Genetics. Part A|December 20, 2013
Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletionsTrent Burgess, Natasha J Brown, Zornitza Stark, et al.Human Molecular Genetics|September 8, 2021
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humansNicole J Van Bergen, Katrina M Bell, Kirsty Carey, et al.Pageof 3