Associated Papers
The expanding clinical and genetic spectrum of DYNC1H1-related disorders.
Möller B et al.
Brain : a Journal of Neurology, 2025
[A variant of p.Arg1623Gln of the DYNC1H1 gene in a patient with corpus callosum agenesis, polydactyly, mental development disorder, and neuromuscular system disorders].
Zuev AS et al.
Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 2025
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.
Cuccurullo C et al.
Epilepsia, 2024
Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies.
Vetri L et al.
International Journal of Molecular Sciences, 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
De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations.
Su T et al.
Molecular Genetics & Genomic Medicine, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
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
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
29671837 (PubMed )
Supplement: NIHMS934304-supplement-Supplementary_table_2.pdf
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