• 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 comprehensive review of iPS cell line-based disease modelling of the polyglutamine spinocerebellar ataxias 2 and 3: a focus on the research outcomes
• A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy
• A multiple animal and cellular models approach to study frataxin deficiency in Friedreich Ataxia
• 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
• Abnormal open states patterns in the ATXN2 DNA sequence depends on the CAG repeats length
• Absence of ATM leads to altered NK cell function in mice
• Advances in the Differentiation of hiPSCs into Cerebellar Neuronal Cells
• An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study
• An unexpected polyglycine route to spinocerebellar ataxia
• An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches
• Ataxia Telangiectasia patient-derived neuronal and brain organoid models reveal mitochondrial dysfunction and oxidative stress
• ATAXIA-telangiectasia with compound heterozygous ATM mutations discovered on abnormal newborn screen
• Ataxias in Brazil: 17 years of experience in an ataxia center
• CAG repeat mosaicism is gene specific in spinocerebellar ataxias
• 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)
• Cerebellum in Alzheimer's disease and other neurodegenerative diseases: an emerging research frontier
• Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay
• Clinical, genetic, and neuroimaging profiles of autosomal recessive spinocerebellar ataxia type 4 caused by novel VPS13D variants in Chinese
• 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"
• Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing
• Development and Validation of SCACOMS, a Composite Scale for Assessing Disease Progression and Treatment Effects in Spinocerebellar Ataxia
• 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
• Drosophila in the study of hTBP protein interactions in the development and modeling of SCA17
• Dysregulated Cerebrospinal Fluid Proteome of Spinocerebellar Ataxia Type 2 and its Clinical Implications
• Effects of cerebellar repetitive transcranial magnetic stimulation plus physiotherapy in spinocerebellar ataxias - A randomized clinical trial
• Efficacy and safety of N-acetyl-L-leucine in patients with ataxia telangiectasia: A randomized, double-blind, placebo-controlled, crossover clinical trial
• Endosome mediated nucleocytoplasmic trafficking and endomembrane allocation is crucial to polyglutamine toxicity
• Epstein-Barr virus-associated smooth muscle tumor in a female with ataxia telangiectasia: A case report
• Evaluation of Quality of Life After Use the Virtual Reality in Patients with Neurodegenerative Disease
• Exploring functional and structural connectivity disruptions in spinocerebellar ataxia type 3: Insights from gradient analysis
• Exploring machine learning for untargeted metabolomics using molecular fingerprints
• Exploring the Pathogenicity of SETX I1942T Variant in Ataxia with Oculomotor Apraxia Type 2 Through Segregation Analysis
• Feasibility and impact of a physical activity and lifestyle program for Aboriginal families with Machado-Joseph disease in the Top End of Australia
• Feasibility of whole-body MRI for cancer screening in children and young people with ataxia telangiectasia: A mixed methods cross-sectional study
• Gait Variability as a Potential Motor Marker of Cerebellar Disease-Relationship between Variability of Stride, Arm Swing and Trunk Movements, and Walking Speed
• Generation of a human induced pluripotent stem cell line JHUi004-A with heterozygous mutation for spinocerebellar ataxia type 12 using genome editing
• Generation of human induced pluripotent stem cell lines (LUMCi051-A,B and LUMCi052-A,B,C) of two patients with Spinocerebellar ataxia type 7
• Genotoxicity Associated with Retroviral CAR Transduction of ATM-Deficient T Cells
• Global DNA methylation is not elevated in blood samples from Machado-Joseph disease mutation carriers
• Imbalanced optimal feedback motor control system in spinocerebellar ataxia type 3
• Immune profiling and functional analysis of NK and T cells in ataxia telangiectasia
• In Silico Prediction of Potential Inhibitors for Targeting RNA CAG Repeats via Molecular Docking and Dynamics Simulation: A Drug Discovery Approach
• Integration of graph network with kernel SVM and logistic regression for identification of biomarkers in SCA12 and its diagnosis
• Lessons from the ATTeST trial in ataxia telangiectasia
• 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
• MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study
• Mutant androgen receptor induces neurite loss and senescence independently of ARE binding in a neuronal model of SBMA
• Neurocognitive Impairment in Patients With Ataxia Telangiectasia and Their Unaffected Parents: Is It Similar?
• New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to VPS13D Variants
• Nilotinib treatment outcomes in autosomal dominant spinocerebellar ataxia over one year
• NMR structures of small molecules bound to a model of a CUG RNA repeat expansion
• NMR structures of small molecules bound to a model of an RNA CUG repeat expansion
• Oxidative stress and the multifaceted roles of ATM in maintaining cellular redox homeostasis
• POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation
• Polyglutamine (PolyQ) Diseases: Navigating the Landscape of Neurodegeneration
• 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
• Psychometric Validation of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) in Patients With Spinocerebellar Ataxia
• 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
• Reply to: Comment to "SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies"
• Research Progress in the Roles of MRE11-RAD50-NBS1 Complex and Human Diseases
• Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia (ATTeST): a multicentre, randomised, double-blind, placebo-controlled phase 3 trial
• SARA captures disparate progression and responsiveness in spinocerebellar ataxias
• SCA44- and SCAR13-associated GRM1 mutations affect metabotropic glutamate receptor 1 function through distinct mechanisms
• SCAR32: Functional characterization and expansion of the clinical-genetic spectrum
• Sensitivity of Advanced Magnetic Resonance Imaging to Progression over Six Months in Early Spinocerebellar Ataxia
• Single nuclei RNA-seq reveals a medium spiny neuron glutamate excitotoxicity signature prior to the onset of neuronal death in an ovine Huntington's disease model
• Spatiotemporal Gait Analysis of Patients with Spinocerebellar Ataxia Types 3 and 10 Using Inertial Measurement Units: A Comparative Study
• Specific Biomarkers in Spinocerebellar Ataxia Type 3: A Systematic Review of Their Potential Uses in Disease Staging and Treatment Assessment
• 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 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs
• Spinocerebellar ataxias: from pathogenesis to recent therapeutic advances
• Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms
• Structures of small molecules bound to RNA repeat expansions that cause Huntington's disease-like 2 and myotonic dystrophy type 1
• STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8
• The characteristic and biomarker value of transcranial sonography in cerebellar ataxia
• 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 Role of Protein Quantity Control in Polyglutamine Spinocerebellar Ataxias
• 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
• Venetoclax use in a patient with ataxia telangiectasia and early T-cell precursor acute lymphoblastic leukemia
• Whole genome joint analysis reveals ATM:C.1564_1565del variant segregating with Ataxia-Telangiectasia and breast cancer