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Neuromuscular Disorders : NMD|October 1, 1996
Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosisB A Hosler, G A Nicholson, P C Sapp, et al.
Journal of Lipid Research|August 3, 2005
Multiple QTLs influencing triglyceride and HDL and total cholesterol levels identified in families with atherogenic dyslipidemiaYi Yu, Diego F Wyszynski, Dawn M Waterworth, et al.
Lancet (London, England)|July 26, 2011
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation studySebahattin Cirak, Virginia Arechavala-Gomeza, Michela Guglieri, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 3, 1999
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathyK Pelin, P Hilpelä, K Donner, et al.
The Lancet. Neurology|August 29, 2009
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept studyMaria Kinali, Virginia Arechavala-Gomeza, Lucy Feng, et al.
Nature Medicine|August 11, 2014
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and miceNicolas Wein, Adeline Vulin, Maria S Falzarano, et al.
Acta Neuropathologica|April 27, 2026
A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3Michaela Yuen, Katharine Zhang, Rhett G Marchant, 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.
Brain : a Journal of Neurology|April 3, 2025
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>TA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.
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