• 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 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
• Abnormalities in signal transduction of Purkinje cells in spinocerebellar ataxias: a review
• Absence of ATM leads to altered NK cell function in mice
• Advances in the Differentiation of hiPSCs into Cerebellar Neuronal Cells
• An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines
• 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 and Rad3-related (ATR) inhibition by VE-822 potently reversed 5-flourouracil resistance in colorectal cancer cells through targeting DNA damage response
• Ataxias in Brazil: 17 years of experience in an ataxia center
• ATM deficiency differentially affects expression of proteins related to fatty acid oxidation and oxidative stress in a sex-specific manner in response to Western-type diet prior to and following myocardial infarction
• Autosomal recessive spinocerebellar ataxia type 4 due to a novel homozygous mutation in the VPS13D gene in a Saudi family
• 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
• Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG-PET presentation in spinocerebellar ataxia 17: a case report
• 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
• DNA Damage-driven Inflammatory Cytokines: Reprogramming of Tumor Immune Microenvironment and Application of Oncotherapy
• DNA-PK and ATM drive phosphorylation signatures that antagonistically regulate cytokine responses to herpesvirus infection or DNA damage
• Drosophila in the study of hTBP protein interactions in the development and modeling of SCA17
• Drosophila melanogaster Neuromuscular Junction as a Model to Study Synaptopathies and Neuronal Autophagy
• Dynamic molecular network analysis of iPSC-Purkinje cells differentiation delineates roles of ISG15 in SCA1 at the earliest stage
• Effects of cerebellar repetitive transcranial magnetic stimulation plus physiotherapy in spinocerebellar ataxias - A randomized 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
• 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
• Global DNA methylation is not elevated in blood samples from Machado-Joseph disease mutation carriers
• Immune profiling and functional analysis of NK and T cells in ataxia telangiectasia
• 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
• Memantine suppresses the excitotoxicity but fails to rescue the ataxic phenotype in SCA1 model mice
• Modification of Huntington's disease by short tandem repeats
• 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
• Phenotypic analysis of ataxia in spinocerebellar ataxia type 6 mice using DeepLabCut
• Phenotypical, genotypical and pathological characterization of the moonwalker mouse, a model of ataxia
• Polyglutamine (PolyQ) Diseases: Navigating the Landscape of Neurodegeneration
• Polyglutamine disease proteins: Commonalities and differences in interaction profiles and pathological effects
• Posttranscriptional regulation of <em>FAN1</em> by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease
• 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
• Regulation of transcription patterns, poly(ADP-ribose), and RNA-DNA hybrids by the ATM protein kinase
• 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
• Sensitivity of Advanced Magnetic Resonance Imaging to Progression over Six Months in Early Spinocerebellar Ataxia
• 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
• Spermidine treatment: induction of autophagy but also apoptosis?
• 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 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: from pathogenesis to recent therapeutic advances
• Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms
• Structural Brain Correlates of Sleep Microstructure in Spinocerebellar Ataxia Type 2 and its Role on Clinical Phenotype
• 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 deubiquitinase function of ataxin-3 and its role in the pathogenesis of Machado-Joseph disease and other diseases
• 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
• Therapeutic Options Targeting the Ataxia-Telangiectasia Mutated (ATM)-mediated DNA Damage Response, Macropinocytosis, and Adaptive Immunity in Ovarian Cancer
• Tracking longitudinal thalamic volume changes during early stages of SCA1 and SCA2
• 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
• Unraveling the molecular landscape of Ataxia Telangiectasia: Insights into Neuroinflammation, immune dysfunction, and potential therapeutic target
• Variant ataxia telangiectasia identified during evaluation for short stature
• Whole genome joint analysis reveals ATM:C.1564_1565del variant segregating with Ataxia-Telangiectasia and breast cancer