Ophthalmic Findings in the KIF1A-Associated Neurologic Disorder (KAND)-Reference-Cited by-同舟云学术

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Ophthalmic Findings in the KIF1A-Associated Neurologic Disorder (KAND)

Published:2024-12 Issue: Volume:268 Page:247-257
ISSN:0002-9394
Container-title:American Journal of Ophthalmology
language:en
Short-container-title:American Journal of Ophthalmology

Author:

Abdelhakim Aliaa H.^ORCID,Brodie Scott E.,Chung Wendy K.^ORCID

Publisher

Elsevier BV

Reference21 articles.

1. Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis;Erlich;Genome Res,2011

2. Multigeneration family with dominant SPG30 hereditary spastic paraplegia;Roda;Ann Clin Transl Neurol,2017

3. KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2;Riviere;Am J Hum Genet,2011

4. De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome;Langlois;Eur J Hum Genet,2016

5. The novel de novo mutation of KIF1A gene as the cause for spastic paraplegia 30 in a Japanese case;Yoshikawa;eNeurologicalSci,2019

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