Associated Papers
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
Presynaptic perspective: Axonal transport defects in neurodevelopmental disorders.
Xiong GJ et al.
The Journal of Cell Biology, 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
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
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
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Discovery of specific mutations in spinal muscular atrophy patients by next-generation sequencing.
Fang YL et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Review: Cytoplasmic dynein motors in photoreceptors.
Dahl TM et al.
Molecular Vision, 2021
Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies.
Lin Z et al.
Scientific Reports, 2017
Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.
Chen Y et al.
Journal of Child Neurology, 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
Dync1h1 Mutation Causes Proprioceptive Sensory Neuron Loss and Impaired Retrograde Axonal Transport of Dorsal Root Ganglion Neurons.
Zhao J et al.
Cns Neuroscience & Therapeutics, 2016
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
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.
Scoto M et al.
Neurology, 2015
Mutations in cytoplasmic dynein and its regulators cause malformations of cortical development and neurodegenerative diseases.
Lipka J et al.
Biochemical Society Transactions, 2013
Cytoplasmic dynein heavy chain: the servant of many masters.
Schiavo G et al.
Trends in Neurosciences, 2013
A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.
Tsurusaki Y et al.
Neurogenetics, 2012
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.
Harms MB et al.
Neurology, 2012
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.
Willemsen MH et al.
Journal of Medical Genetics, 2012