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Neuromuscular and Neurogenetic Disorders of Childhood Section,
National Institute of Neurological Disorders and Stroke,
Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke
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Exon-Skipping for a Pathogenic COL6A1 Variant in Ullrich Congenital Muscular Dystrophy.
Methods in molecular biology (Clifton, N.J.) , 2023 | Pubmed ID: 36401040
The recurrent deep intronic pseudoexon-inducing variant c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
medRxiv : the preprint server for health sciences Mar, 2024 | Pubmed ID: 38585825
A humanized knock-in mouse recapitulates a deep-intronic splice-activating variant.
bioRxiv : the preprint server for biology Mar, 2024 | Pubmed ID: 38585878
National Institutes of Health
University College London
Fady Guirguis1,2,
Véronique Bolduc1,
Matthew J. Slarve3,
Haiyan Zhou4,5,
Francesco Muntoni2,4,
Carsten G. Bönnemann1
1Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health,
2The Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Research and Teaching Department, Great Ormond Street Institute of Child Health, University College London,
3Department of Molecular Microbiology and Immunology, University of Southern California,
4, NIHR Great Ormond Street Hospital Biomedical Research Centre,
5Genetics and Genomic Medicine Research and Teaching Department, Great Ormond Street Institute of Child Health, University College London
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