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Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials
Silwal A, Sarkozy A, Scoto M, et al.
Annals of clinical and translational neurology, 2020
Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians
Pellerin D, Aykanat A, Ellezam B, et al.
Annals of neurology, 2020
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy
Villar-Quiles RN, Catervi F, Cabet E, et al.
Annals of neurology, 2019
KBTBD13 is an actin-binding protein that modulates muscle kinetics
de Winter JM, Molenaar JP, Yuen M, et al.
The Journal of clinical investigation, 2019
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
Kim J, Hu C, Moufawad El Achkar C, et al.
The New England journal of medicine, 2019
Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis
Graham RJ, Muntoni F, Hughes I, et al.
Archives of disease in childhood, 2019
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies
Bachmann C, Noreen F, Voermans NC, et al.
Human mutation, 2019
Congenital titinopathy: Comprehensive characterisation and pathogenic insights
Oates EC, Jones KJ, Donkervoort S, et al.
Annals of neurology, 2018
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3)
Joureau B, de Winter JM, Conijn S, et al.
Annals of neurology, 2018, 83, 2, p 269
A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study
Beggs AH, Byrne BJ, de Chastonay S, et al.
Muscle & Nerve, 2018, 57, 4, p 550
A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop
Karakaya M, Ceyhan-Birsoy O, Beggs AH, et al.
Journal of clinical neuromuscular disease, 2017, 18, 3, p 147
Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs
Mack DL, Poulard K, Goddard MA, et al.
Molecular therapy : the journal of the American Society of Gene Therapy, 2017, 25, 4, p 839
Long-term effects of systemic gene therapy in a canine model of myotubular myopathy
Elverman M, Goddard MA, Mack D, et al.
Muscle & Nerve, 2017, 56, 5, p 943
A natural history study of X-linked myotubular myopathy
Amburgey K, Tsuchiya E, de Chastonay S, et al.
Neurology, 2017, 89, 13, p 1355
Mutation-specific effects on thin filament length in thin filament myopathy
Winter JM, Joureau B, Lee EJ, et al.
Annals of neurology, 2016, 79, 6, p 959
Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons
Lawlor MW, Beggs AH, Buj-Bello A, et al.
Journal of neuropathology and experimental neurology, 2016, 75, 2, p 102
Gene replacement rescues severe muscle pathology and prolongs survival in myotubularin-deficient mice and dogs
Childers MK, Beggs AH, Buj-Bello A
Annals of translational medicine, 2015, 3, 17, p 257
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family
Zukosky K, Meilleur K, Traynor BJ, et al.
JAMA Neurology, 2015, 72, 6, p 689
Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement
Ceyhan-Birsoy O, Talim B, Swanson LC, et al.
Journal of Neuromuscular Diseases, 2015, 2, 1, p 87
X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene
Shelton GD, Rider BE, Child G, et al.
Skeletal Muscle, 2015, 5, 1
SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy
Agrawal PB, Pierson CR, Joshi M, et al.
American journal of human genetics, 2014, 95, 2, p 218
Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy
Smith LL, Gupta VA, Beggs AH
Human molecular genetics, 2014, 23, 13, p 3566
Mutation update: the spectra of nebulin variants and associated myopathies
Lehtokari VL, Kiiski K, Sandaradura SA, et al.
Human mutation, 2014, 35, 12, p 1418
Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies
Marttila M, Lehtokari VL, Marston S, et al.
Human mutation, 2014, 35, 7, p 779
Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/beta-Cardiac Myosin (MYH7) Distal Myopathy
Lamont PJ, Wallefeld W, Hilton-Jones D, et al.
Human mutation, 2014, 35, 7, p 868
