Associated Papers
DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders.
Wu WC et al.
Seizure, 2024
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
Review: Cytoplasmic dynein motors in photoreceptors.
Dahl TM et al.
Molecular Vision, 2021
DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants.
Amabile S et al.
American Journal of Medical Genetics. Part A, 2020
Cryo-EM Reveals How Human Cytoplasmic Dynein Is Auto-inhibited and Activated.
Zhang K et al.
Cell, 2017
A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract.
Hertecant J et al.
Meta Gene, 2016
Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
Al-Shamsi A et al.
Orphanet Journal of Rare Diseases, 2016
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