Associated Papers
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
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
Expanding the phenotype of DYNC1H1-associated diseases with a rare variant resulting in spinal muscular atrophy with lower extremity predominance (SMA-LED) and upper motor neuron signs.
Lee J et al.
The Turkish Journal of Pediatrics, 2023
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
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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