Associated Papers
Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation.
Mei Y et al.
Bmc Medical Genomics, 2023
A novel variant in DYNC1H1 could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrum.
Mentis AA et al.
Cold Spring Harbor Molecular Case Studies, 2022
Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.
Klau J et al.
European Journal of Human Genetics : Ejhg, 2022
34690354 (PubMed )
Supplement: 41431_2021_981_MOESM3_ESM.xlsx › variants
Expanding the Phenotypic and Genetic Spectrum of Neuromuscular Diseases Caused by DYNC1H1 Mutations.
Li JT et al.
Frontiers in Neurology, 2022
Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.
Chen Y et al.
Journal of Child Neurology, 2017
DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein-dynactin-cargo adaptor complexes.
Hoang HT et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
Strickland AV et al.
Journal of Neurology, 2015
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.
Harms MB et al.
Neurology, 2012
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.
Willemsen MH et al.
Journal of Medical Genetics, 2012
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.
Weedon MN et al.
American Journal of Human Genetics, 2011
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