Spinocerebellar Ataxia Type 28 Latest Advances

Multi-omics-based phenotyping of AFG3L2-mutant lymphoblasts determines key factors of a pathophysiological interplay between mitochondrial vulnerability and neurodegeneration in spastic ataxia type 5.

Journal: Frontiers in molecular neuroscience

Published: December 19, 2024

Rare Spinocerebellar Ataxia Types in Canada: A Case Series and Review of the Literature.

Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

Published: December 02, 2024

A Review of Spinocerebellar Ataxias in Taiwan.

Journal: Acta neurologica Taiwanica

Published: August 26, 2024

Multifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders.

Journal: Molecular neurobiology

Published: September 09, 2023

Clinical value of vestibulo-ocular reflex in the differentiation of spinocerebellar ataxias.

Journal: Scientific reports

Published: June 20, 2023

Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5.

Journal: Brain : a journal of neurology

Published: April 21, 2023

Spasmodic Dysphonia in a Patient with Spinocerebellar Ataxia Associated with a Rare AFG3L2 Variant (ATX-AFG3L2).

Journal: Movement disorders clinical practice

Published: November 29, 2022

Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing.

Journal: American journal of ophthalmology case reports

Published: August 28, 2022

Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia.

Journal: Frontiers in neurology

Published: February 10, 2022

Spinocerebellar ataxia type 28 in a Chinese pedigree: A case report and literature review.

Journal: Medicine

Published: September 13, 2021

Eye-of-Tiger Sign in Globus Pallidus: A Novel Radiological Feature of Spinocerebellar Ataxia Type 28.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: May 26, 2021

Expanding the phenotype of AFG3L2 mutations: Late-onset autosomal recessive spinocerebellar ataxia.

Journal: Journal of the neurological sciences

Published: April 18, 2021

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Multi-omics-based phenotyping of AFG3L2-mutant lymphoblasts determines key factors of a pathophysiological interplay between mitochondrial vulnerability and neurodegeneration in spastic ataxia type 5.

Multi-omics-based phenotyping of AFG3L2-mutant lymphoblasts determines key factors of a pathophysiological interplay between mitochondrial vulnerability and neurodegeneration in spastic ataxia type 5.

Rare Spinocerebellar Ataxia Types in Canada: A Case Series and Review of the Literature.

Rare Spinocerebellar Ataxia Types in Canada: A Case Series and Review of the Literature.

A Review of Spinocerebellar Ataxias in Taiwan.

A Review of Spinocerebellar Ataxias in Taiwan.

Multifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders.

Multifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders.

Clinical value of vestibulo-ocular reflex in the differentiation of spinocerebellar ataxias.

Clinical value of vestibulo-ocular reflex in the differentiation of spinocerebellar ataxias.

Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5.

Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5.

Spasmodic Dysphonia in a Patient with Spinocerebellar Ataxia Associated with a Rare AFG3L2 Variant (ATX-AFG3L2).

Spasmodic Dysphonia in a Patient with Spinocerebellar Ataxia Associated with a Rare AFG3L2 Variant (ATX-AFG3L2).

Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing.

Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing.

Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia.

Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia.

Spinocerebellar ataxia type 28 in a Chinese pedigree: A case report and literature review.

Spinocerebellar ataxia type 28 in a Chinese pedigree: A case report and literature review.

Eye-of-Tiger Sign in Globus Pallidus: A Novel Radiological Feature of Spinocerebellar Ataxia Type 28.

Eye-of-Tiger Sign in Globus Pallidus: A Novel Radiological Feature of Spinocerebellar Ataxia Type 28.

Expanding the phenotype of AFG3L2 mutations: Late-onset autosomal recessive spinocerebellar ataxia.

Expanding the phenotype of AFG3L2 mutations: Late-onset autosomal recessive spinocerebellar ataxia.