Associated Papers
Diagnostic Yield and Genetic Burden Analysis of Frequently Mutated Genes in Progressive Ataxia.
Sharma P et al.
Annals of Indian Academy of Neurology, 2025
Multifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders.
Ghosh Dastidar R et al.
Molecular Neurobiology, 2024
Spinocerebellar ataxia type 28 in a Chinese pedigree: A case report and literature review.
Liu X et al.
Medicine, 2021
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
Caporali L et al.
Annals of Neurology, 2020
Unique Structural Features of the Mitochondrial AAA+ Protease AFG3L2 Reveal the Molecular Basis for Activity in Health and Disease.
Puchades C et al.
Molecular Cell, 2019
Neurocognitive Characterization of an SCA28 Family Caused by a Novel AFG3L2 Gene Mutation.
Szpisjak L et al.
Cerebellum (london, England), 2017
Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene.
Colavito D et al.
Biomedical Reports, 2017
Spinocerebellar ataxia: relationship between phenotype and genotype - a review.
Sun YM et al.
Clinical Genetics, 2016
A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.
Charif M et al.
Frontiers in Genetics, 2015
A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28.
Löbbe AM et al.
Journal of Molecular Neuroscience : Mn, 2014
Spinocerebellar ataxia type 28 (SCA28) is an uncommon cause of dominant ataxia among Chinese kindreds.
Jia D et al.
The International Journal of Neuroscience, 2012
The spinocerebellar ataxias: clinical aspects and molecular genetics.
Matilla-Dueñas A et al.
Advances in Experimental Medicine and Biology, 2012
Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.
Edener U et al.
European Journal of Human Genetics : Ejhg, 2010
[A case report of spinocerebellar ataxia].
Song YZ et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2007
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