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Neuromuscular Disorders : NMD|July 30, 2014
Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutationAnamaria Bolocan, Susana Quijano-Roy, Andreea M Seferian, et al.Human Molecular Genetics|March 25, 2016
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle diseaseLaurianne Davignon, Claire Chauveau, Cédric Julien, et al.Nature Communications|May 29, 2015
Abnormal splicing switch of DMD's penultimate exon compromises muscle fibre maintenance in myotonic dystrophyFrédérique Rau, Jeanne Lainé, Laetitita Ramanoudjame, et al.Journal of Neuromuscular Diseases|December 18, 2020
Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 GeneSergey N Bardakov, Roman V Deev, Raisat M Magomedova, et al.Brain : a Journal of Neurology|November 26, 2013
Natural history of pulmonary function in collagen VI-related myopathiesA Reghan Foley, Susana Quijano-Roy, James Collins, et al.Human Mutation|September 11, 2014
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variabilitySandra Donkervoort, Ying Hu, Tanya Stojkovic, et al.Journal of Neuromuscular Diseases|March 22, 2021
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related MyopathiesRocío N Villar-Quiles, Sandra Donkervoort, Alix de Becdelièvre, et al.Annals of Neurology|October 27, 2010
Early onset collagen VI myopathies: Genetic and clinical correlationsLaura Briñas, Pascale Richard, Susana Quijano-Roy, et al.JCI Insight|March 22, 2019
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapiesVéronique Bolduc, A Reghan Foley, Herimela Solomon-Degefa, et al.Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapyA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.Pageof 5