Associated Papers
Glial Cells in Spinal Muscular Atrophy: Speculations on Non-Cell-Autonomous Mechanisms and Therapeutic Implications.
Belančić A et al.
Neurology International, 2025
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
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
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
Motor proteins at the mitochondria-cytoskeleton interface.
Kruppa AJ et al.
Journal of Cell Science, 2021
Neurobiology of axonal transport defects in motor neuron diseases: Opportunities for translational research?
De Vos KJ et al.
Neurobiology of Disease, 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
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
Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance.
Punetha J et al.
Pediatric Neurology, 2015
Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies.
Peeters K et al.
Brain : a Journal of Neurology, 2014
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