Associated Papers
Genotypic and Phenotypic Characterization of Axonal Charcot-Marie-Tooth Disease in Childhood: Identification of One Novel and Four Known Mutations.
İpek R et al.
Genes, 2025
Glial Cells in Spinal Muscular Atrophy: Speculations on Non-Cell-Autonomous Mechanisms and Therapeutic Implications.
Belančić A et al.
Neurology International, 2025
Multidisciplinary approach on divergent outcomes in spinal muscular atrophies: comparing DYNC1H1 and SMN1 gene mutations.
Nurputra DK et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Presynaptic perspective: Axonal transport defects in neurodevelopmental disorders.
Xiong GJ et al.
The Journal of Cell Biology, 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
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
Neurogenic arthrogryposis and the power of phenotyping.
Rossor AM et al.
Neuromuscular Disorders : Nmd, 2021
Motor proteins at the mitochondria-cytoskeleton interface.
Kruppa AJ et al.
Journal of Cell Science, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
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
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 expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.
Scoto M et al.
Neurology, 2015
Cytoplasmic dynein heavy chain: the servant of many masters.
Schiavo G et al.
Trends in Neurosciences, 2013
Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age.
Eschbach J et al.
Neurobiology of Disease, 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
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