Associated Papers
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
Expanding the Phenotypic and Genetic Spectrum of Neuromuscular Diseases Caused by DYNC1H1 Mutations.
Li JT et al.
Frontiers in Neurology, 2022
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
A novel DYNC1H1 mutation causing spinal muscular atrophy with lower extremity predominance.
Niu Q et al.
Neurology. Genetics, 2015
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
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