Associated Papers
Ataxia-linked SLC1A3 mutations alter EAAT1 chloride channel activity and glial regulation of CNS function.
Wu Q et al.
The Journal of Clinical Investigation, 2022
Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.
Yang D et al.
Frontiers in Genetics, 2021
34603379 (PubMed )
Supplement: Data_Sheet_2.XLSX › DX1616_21D03390595-1
Cellular Physiology and Pathophysiology of EAAT Anion Channels.
Kovermann P et al.
Frontiers in Cellular Neuroscience, 2021
A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.
Zlotina A et al.
Bmc Medical Genomics, 2020
33218365 (PubMed )
Supplement: 12920_2020_821_MOESM1_ESM.xlsx › Sheet_1
Functional consequences of SLC1A3 mutations associated with episodic ataxia 6.
Chivukula AS et al.
Human Mutation, 2020
Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.
Garone G et al.
International Journal of Molecular Sciences, 2020
Screening Gene Mutations in Chinese Patients With Benign Essential Blepharospasm.
Dong H et al.
Frontiers in Neurology, 2019
Genetic Variants Associated with Episodic Ataxia in Korea.
Choi KD et al.
Scientific Reports, 2017
Somatic coding mutations in human induced pluripotent stem cells.
Gore A et al.
Nature, 2011
21368825 (PubMed )
Supplement: NIHMS264158-supplement-6.xls › Table_S1
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