• A 24-Year-Old Man With Spastic Ataxia and Hypodontia
• A combination of chlorzoxazone and folic acid improves recognition memory, anxiety and depression in SCA3-84Q mice
• A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy
• A novel KCND3 variant in the N-terminus impairs the ionic current of Kv4.3 and is associated with SCA19/22
• AAV-Mediated CAG-Targeting Selectively Reduces Polyglutamine-Expanded Protein and Attenuates Disease Phenotypes in a Spinocerebellar Ataxia Mouse Model
• Advancing Understanding of Predictive Factors for Survival in Friedreich's Ataxia: A Review of Current Evidence and Future Directions
• An In Silico Analysis of Genetic Variants and Structural Modeling of the Human Frataxin Protein in Friedreich's Ataxia
• An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study
• An RNA-seq study in Friedreich ataxia patients identified hsa-miR-148a-3p as a putative prognostic biomarker of the disease
• An unexpected polyglycine route to spinocerebellar ataxia
• Ataxias in Brazil: 17 years of experience in an ataxia center
• CAG repeat mosaicism is gene specific in spinocerebellar ataxias
• Calcitriol Treatment Is Safe and Increases Frataxin Levels in Friedreich Ataxia Patients
• Careful Phenotypic Characterization of Tremor Phenomenology in a Patient with Spinocerebellar Ataxia Type 12-Tremor Features Do Not Match Those of Essential Tremor
• Cerebellar Heterogeneity and Selective vulnerability in Spinocerebellar Ataxia Type 1 (SCA1)
• Characterization of clinical serum cardiac biomarker levels in individuals with Friedreich ataxia
• Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay
• Clinicopathological and pedigree investigation of a novel spinocerebellar neurological disease in juvenile Quarter Horses in North America
• Comment to: "SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies"
• Discovery of a de novo ITPR1 missense mutation in a patient with early-onset cerebellar ataxia: A rare case report of spinocerebellar ataxia 29
• Disrupted cerebellar structural connectome in spinocerebellar ataxia type 3 and its association with transcriptional profiles
• DNA Base Damage Repair Crosstalks with Chromatin Structures to Contract Expanded GAA Repeats in Friedreich's Ataxia
• Drosophila in the study of hTBP protein interactions in the development and modeling of SCA17
• Dynamic molecular network analysis of iPSC-Purkinje cells differentiation delineates roles of ISG15 in SCA1 at the earliest stage
• Dysregulated Cerebrospinal Fluid Proteome of Spinocerebellar Ataxia Type 2 and its Clinical Implications
• Effect analysis of facial nerve decompression surgery in the treatment of Bell's palsy and Hunt syndrome
• Effects of cerebellar repetitive transcranial magnetic stimulation plus physiotherapy in spinocerebellar ataxias - A randomized clinical trial
• Emerging therapies for childhood-onset movement disorders
• Endosome mediated nucleocytoplasmic trafficking and endomembrane allocation is crucial to polyglutamine toxicity
• Evaluation of diaphragm functions with diaphragm ultrasound and pulmonary function tests in individuals with Friedreich's ataxia
• Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco-Sjogren syndrome patients
• Exploring functional and structural connectivity disruptions in spinocerebellar ataxia type 3: Insights from gradient analysis
• Exploring the Pathogenicity of SETX I1942T Variant in Ataxia with Oculomotor Apraxia Type 2 Through Segregation Analysis
• Expression and processing of mature human frataxin after gene therapy in mice
• Feasibility and impact of a physical activity and lifestyle program for Aboriginal families with Machado-Joseph disease in the Top End of Australia
• Frataxin deficiency shifts metabolism to promote reactive microglia via glucose catabolism
• Gait rhythm analysis as a new continuous scale for cerebellar ataxia: Power law and lognormal components represent the ataxic gait quantity
• Gene editing as a therapeutic strategy for spinocerebellar ataxia type-3
• Generation of a human induced pluripotent stem cell line JHUi004-A with heterozygous mutation for spinocerebellar ataxia type 12 using genome editing
• Generation of genetically modified Friedreich's ataxia induced pluripotent stem cell lines and isogenic control lines carrying an inducible neurogenin-2 expression cassette
• Generation of human induced pluripotent stem cell lines (LUMCi051-A,B and LUMCi052-A,B,C) of two patients with Spinocerebellar ataxia type 7
• Genetic Determined Iron Starvation Signature in Friedreich's Ataxia
• Glial overexpression of Tspo extends lifespan and protects against frataxin deficiency in Drosophila
• Global DNA methylation is not elevated in blood samples from Machado-Joseph disease mutation carriers
• Gradient of microstructural damage along the dentato-thalamo-cortical tract in Friedreich ataxia
• Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences
• Imbalanced optimal feedback motor control system in spinocerebellar ataxia type 3
• In Silico Prediction of Potential Inhibitors for Targeting RNA CAG Repeats via Molecular Docking and Dynamics Simulation: A Drug Discovery Approach
• Insights into the effects of Friedreich ataxia on the left ventricle using T1 mapping and late gadolinium enhancement
• Integration of graph network with kernel SVM and logistic regression for identification of biomarkers in SCA12 and its diagnosis
• Localized Changes in Dentate Nucleus Shape and Magnetic Susceptibility in Friedreich Ataxia
• Long-Term Disease Course of Pontocerebellar Hypoplasia Type 10
• Long-Term Follow-Up before and during Riluzole Treatment in Six Patients from Two Families with Spinocerebellar Ataxia Type 7
• Longitudinal Changes of Clinical, Imaging, and Fluid Biomarkers in Preataxic and Early Ataxic Spinocerebellar Ataxia Type 2 and 7 Carriers
• Loss of SIL1 Affects Actin Dynamics and Leads to Abnormal Neural Migration
• Marinesco-Sjogren Syndrome: A Report of two Cases
• Molecular Imaging in CANVAS: A Contribution for Differential Diagnosis?
• MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study
• Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated <em>TMEM240</em> p.Pro170Leu Variant
• NAD+ precursors prolong survival and improve cardiac phenotypes in a mouse model of Friedreich's Ataxia
• New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to VPS13D Variants
• Nilotinib treatment outcomes in autosomal dominant spinocerebellar ataxia over one year
• Perioperative management and outcomes for posterior spinal fusion in patients with Friedreich ataxia: A single-center, retrospective study
• PGT-M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases
• Pharmacotherapeutic strategies for Friedreich Ataxia: a review of the available data
• Phenotypic analysis of ataxia in spinocerebellar ataxia type 6 mice using DeepLabCut
• POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation
• PolyQ-expanded ataxin-2 aggregation impairs cellular processing-body homeostasis via sequestering the RNA helicase DDX6
• Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS)
• Preimplantation Genetic Testing of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease-Robust Tools for Direct and Indirect Detection of the ATXN3 (CAG)(n) Repeat Expansion
• Production of Spinocerebellar Ataxia Type 3 Model Mice by Intravenous Injection of AAV-PHP.B Vectors
• Progressive degeneration in a new Drosophila model of spinocerebellar ataxia type 7
• Randomized double-blind placebo-controlled trial of the effects of oral trehalose in spinocerebellar ataxia type 3: An interim analysis
• Rare association between spinocerebellar ataxia and amyotrophic lateral sclerosis: a case series
• Recent Advances in the Treatment Strategies of Friedreich's Ataxia: A Review of Potential Drug Candidates and their Underlying Mechanisms
• Reply to: "Advancing Understanding of Predictive Factors for Survival in Friedreich's Ataxia: A Review of Current Evidence and Future Directions"
• Reply to: Comment to "SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies"
• SARA captures disparate progression and responsiveness in spinocerebellar ataxias
• SCAR32: Functional characterization and expansion of the clinical-genetic spectrum
• Sil1-deficient fibroblasts generate an aberrant extracellular matrix leading to tendon disorganisation in Marinesco-Sjogren syndrome
• Sjogren: unique surname, two men, four syndromes and one disease
• Specific Biomarkers in Spinocerebellar Ataxia Type 3: A Systematic Review of Their Potential Uses in Disease Staging and Treatment Assessment
• Spinocerebellar ataxia 27B (SCA27B), a frequent late-onset cerebellar ataxia
• Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort
• Spinocerebellar ataxia masquerading as multiple sclerosis, a case report
• Spinocerebellar ataxia subtype 40: Report of a case and review of literature
• Spinocerebellar Ataxia Type 3 Pathophysiology-Implications for Translational Research and Clinical Studies
• Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs
• Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms
• The characteristic and biomarker value of transcranial sonography in cerebellar ataxia
• The importance of synthetic pharmacotherapy for recessive cerebellar ataxias
• The New Face of Dynamic Mutation-The CAA [CAG]n CAA CAG Motif as a Mutable Unit in the <em>TBP</em> Gene Causative for Spino-Cerebellar Ataxia Type 17
• The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy
• The polyglutamine protein ATXN2: from its molecular functions to its involvement in disease
• The Regulation of the Disease-Causing Gene <em>FXN</em>
• Tracking longitudinal thalamic volume changes during early stages of SCA1 and SCA2
• Trehalose prevents the formation of aggregates of mutant ataxin-3 and reduces soluble ataxin-3 protein levels in an SCA3 cell model
• Tremor in Spinocerebellar Ataxia: A Scoping Review
• Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia
• Two more families supporting the existence of monogenic spinocerebellar ataxia 48