Associated Papers
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.
Cuccurullo C et al.
Epilepsia, 2024
Epilepsy genetics in the paediatric population of the Eastern Anatolia region of Turkey.
Yarali O et al.
Journal of Neurogenetics, 2024
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
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
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.
Zacher P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Review: Cytoplasmic dynein motors in photoreceptors.
Dahl TM et al.
Molecular Vision, 2021
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Di Donato N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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 in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.
Peeters K et al.
Human Mutation, 2015
Somatic mutations in cerebral cortical malformations.
Jamuar SS et al.
The New England Journal of Medicine, 2014
Cytoplasmic dynein heavy chain: the servant of many masters.
Schiavo G et al.
Trends in Neurosciences, 2013
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
Poirier K et al.
Nature Genetics, 2013