Associated Papers
Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.
Barberán-Martínez P et al.
The Journal of Molecular Diagnostics : Jmd, 2026
Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families.
Aslam F et al.
Scientific Reports, 2026
Long read sequencing reveals novel genomic and epigenomic alterations in repetitive regions of high grade serous ovarian cancer.
Takamatsu S et al.
Scientific Reports, 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
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.
Colucci F et al.
Cerebellum (london, England), 2023
Spasmodic Dysphonia in a Patient with Spinocerebellar Ataxia Associated with a Rare AFG3L2 Variant (ATX-AFG3L2).
Reyes NGD et al.
Movement Disorders Clinical Practice, 2023
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Kaiyrzhanov R et al.
American Journal of Human Genetics, 2022
Spinocerebellar ataxia type 28 in a Chinese pedigree: A case report and literature review.
Liu X et al.
Medicine, 2021
Expanding the phenotype of AFG3L2 mutations: Late-onset autosomal recessive spinocerebellar ataxia.
Chiang HL et al.
Journal of the Neurological Sciences, 2021
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D et al.
International Journal of Molecular Sciences, 2021
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study.
Tolomeo D et al.
Journal of Clinical Medicine, 2021
Correspondence on "Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment" by Roux et al.
Park J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.
Charif M et al.
Frontiers in Neurology, 2021
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
Caporali L et al.
Annals of Neurology, 2020
Expanding the clinical and genetic heterogeneity of SPAX5.
Dosi C et al.
Annals of Clinical and Translational Neurology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Spinocerebellar Ataxia Type 28-Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2.
Tunc S et al.
Cerebellum (london, England), 2019
Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment.
Catania A et al.
American Journal of Medical Genetics. Part A, 2019
[A case report of spinocerebellar ataxia].
Song YZ et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2007