• A novel AFG3L2 mutation in a Somalian patient with spinocerebellar ataxia type 28
• ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
• CAT Interruption as a Protective Factor in Chinese Patients with Spinocerebellar Ataxia Type 1
• Clinically Meaningful Magnetic Resonance Endpoints Sensitive to Preataxic Spinocerebellar Ataxia Types 1 and 3
• Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28
• Design, Synthesis, and Biological Evaluation of Potent and Selective Inhibitors of Ataxia Telangiectasia Mutated and Rad3-Related (ATR) Kinase for the Efficient Treatment of Cancer
• EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset
• Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis
• Expanding the clinical and genetic heterogeneity of SPAX5
• Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia
• GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response
• Head-to-head comparison of 6 plasma biomarkers in early multiple system atrophy
• Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity
• Movement disorders in mitochondrial diseases
• MRI Evidence of Cerebellar and Extraocular Muscle Atrophy Differently Contributing to Eye Movement Abnormalities in SCA2 and SCA28 Diseases
• Mutation analysis of the TATA box-binding protein (TBP) gene in Russian patients with spinocerebellar ataxia and Huntington disease-like phenotype
• Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy
• Neurocognitive Characterization of an SCA28 Family Caused by a Novel AFG3L2 Gene Mutation
• Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene
• Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient
• Oxalate nephropathy in ataxia telangiectasia - A case report
• Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model
• Recurrent divergence-insufficiency esotropia in Machado-Joseph disease (spinocerebellar ataxia type 3)
• Spinocerebellar Ataxia 28 Presenting as Predominantly Generalized Dystonia
• Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing
• Spinocerebellar ataxia type 28 in a Chinese pedigree: A case report and literature review
• Spinocerebellar Ataxia Type 28-Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2
• Spinocerebellar ataxia type 8 presents as progressive supranuclear palsy
• Synapse-Specific Defects in Synaptic Transmission in the Cerebellum of W246G Mutant ELOVL4 Rats-a Model of Human SCA34
• Systematic assessment of plasma biomarkers in spinocerebellar ataxia