Associated Papers
DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders.
Wu WC et al.
Seizure, 2024
DYNC1H1-related epilepsy: Genotype-phenotype correlation.
Liu W et al.
Developmental Medicine and Child Neurology, 2023
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
DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum.
Chung CT et al.
Epilepsy & Behavior Reports, 2023
Whole-exome sequencing identifies a novel de novo variant in DYNC1H in a patient with intractable epilepsy.
Ji C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations.
Su T et al.
Molecular Genetics & Genomic Medicine, 2022
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
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Review: Cytoplasmic dynein motors in photoreceptors.
Dahl TM et al.
Molecular Vision, 2021
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
Cryo-EM Reveals How Human Cytoplasmic Dynein Is Auto-inhibited and Activated.
Zhang K et al.
Cell, 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
Identification of a de novo DYNC1H1 mutation via WES according to published guidelines.
Ding D et al.
Scientific Reports, 2016
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
Strickland AV et al.
Journal of Neurology, 2015
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.
Scoto M et al.
Neurology, 2015
Mutations in cytoplasmic dynein and its regulators cause malformations of cortical development and neurodegenerative diseases.
Lipka J et al.
Biochemical Society Transactions, 2013
Cytoplasmic dynein heavy chain: the servant of many masters.
Schiavo G et al.
Trends in Neurosciences, 2013
A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.
Tsurusaki Y et al.
Neurogenetics, 2012
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.
Willemsen MH et al.
Journal of Medical Genetics, 2012