Associated Papers
Expanding the clinical phenotype of DYNC1H1 -associated mutations: a Chinese family with autosomal dominant complex hereditary spastic paraplegia.
Yuan X et al.
Bmc Medical Genomics, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
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
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
Molecular analysis and clinical diversity of distal hereditary motor neuropathy.
Liu X et al.
European Journal of Neurology, 2020
Identification of a de novo DYNC1H1 mutation via WES according to published guidelines.
Ding D et al.
Scientific Reports, 2016
26846447 (PubMed )
Supplement: srep20423-s1.pdf
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
Strickland AV et al.
Journal of Neurology, 2015
A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report.
Derksen A et al.
Child Neurology Open, 0
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