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Stem Cell Research|June 22, 2021
Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patientPeter J Houweling, Chantal A Coles, Chrystal F Tiong, et al.
Annals of Clinical and Translational Neurology|February 16, 2022
Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacyArlene M D'Silva, Sandra Holland, Didu Kariyawasam, et al.
European Journal of Human Genetics : EJHG|August 31, 2020
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathySamantha J Bryen, Emily C Oates, Frances J Evesson, et al.
Neuromuscular Disorders : NMD|March 4, 2019
Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophyNitamarie Vorster, Kerry Evans, Nada Murphy, et al.
Neuromuscular Disorders : NMD|November 11, 2019
Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variantsHannah F Jones, Samantha J Bryen, Leigh B Waddell, et al.
Annals of Neurology|August 19, 2007
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase geneMarcel M Verbeek, Gerry C H Steenbergen-Spanjers, Michèl A A P Willemsen, 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.
Seminars in Pediatric Neurology|July 3, 2018
Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere SyndromeIan R Woodcock, Manoj P Menezes, Lee Coleman, et al.
Neurology and Therapy|January 8, 2024
The Clinical Development of Taldefgrobep Alfa: An Anti-Myostatin Adnectin for the Treatment of Duchenne Muscular DystrophyFrancesco Muntoni, Barry J Byrne, Hugh J McMillan, et al.
Human Molecular Genetics|March 15, 2023
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disordersFrances J Evesson, Gregory Dziaduch, Samantha J Bryen, et al.
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