Associated Papers
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
A force-sensitive mutation reveals a non-canonical role for dynein in anaphase progression.
Salvador-Garcia D et al.
The Journal of Cell Biology, 2024
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.
Cuccurullo C et al.
Epilepsia, 2024
DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders.
Wu WC et al.
Seizure, 2024
A force-sensitive mutation reveals a spindle assembly checkpoint-independent role for dynein in anaphase progression.
Salvador-Garcia D et al.
Biorxiv : the Preprint Server for Biology, 2023
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
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
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
Järvelä I et al.
Human Genetics, 2021
Review: Cytoplasmic dynein motors in photoreceptors.
Dahl TM et al.
Molecular Vision, 2021
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Demos M et al.
Frontiers in Neurology, 2019
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 in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.
Peeters K et al.
Human Mutation, 2015
Clinical whole exome sequencing in child neurology practice.
Srivastava S et al.
Annals of Neurology, 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