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
Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.
Zheng Y et al.
Brain : a Journal of Neurology, 2025
Multifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders.
Ghosh Dastidar R et al.
Molecular Neurobiology, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia.
Gorcenco S et al.
Journal of Neurology, 2024
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D et al.
International Journal of Molecular Sciences, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome 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
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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
Yet another gene mutation: dysfunction in mitochondrial protein quality control causing hereditary ataxia.
Huang K
Clinical Genetics, 2010
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
Di Bella D et al.
Nature Genetics, 2010