• A chlorzoxazone-folic acid combination improves cognitive affective decline in SCA2-58Q mice
• A novel compound heterozygous SPG7 variant is associated with progressive spastic ataxia and persecutory delusions found in Chinese patients: two case reports
• A Novel Nonsense Variant in <em>GRM1</em> Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family
• A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family
• A Systematic Review of the Spectrum and Prevalence of Non-Motor Symptoms in Adults with Hereditary Cerebellar Ataxias
• Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13
• An E280K Missense Variant in <em>KCND3</em>/Kv4.3-Case Report and Functional Characterization
• An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the Caribbean
• Antisense oligonucleotides targeting basal forebrain ATXN2 enhances spatial memory and ameliorates sleep deprivation-induced fear memory impairment in mice
• Ataxia-Telangiectasia Mutated Loss of Heterozygosity in Melanoma
• Ataxin-3, The Spinocerebellar Ataxia Type 3 Neurodegenerative Disorder Protein, Affects Mast Cell Functions
• ATM phosphorylates the FATC domain of DNA-PKcs at threonine 4102 to promote non-homologous end joining
• Autonomic dysfunction as the initial presentation in spinocerebellar ataxia type 3: A case report and review of the literature
• Autophagy in Spinocerebellar Ataxia Type 3: From Pathogenesis to Therapeutics
• Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics
• Autosomal Recessive Spinocerebellar Ataxia Type 9 With a Response to Phosphate Repletion: A Case Report
• Brain MRI Volumetry Analysis in an Indonesian Family of SCA 3 Patients: A Case-Based Study
• C-terminal proline deletions in KCNC3 cause delayed channel inactivation and an adult-onset progressive SCA13 with spasticity
• Camonsertib in DNA damage response-deficient advanced solid tumors: phase 1 trial results
• Case Report: Deep brain stimulation improves tremor in <em>FGF-14</em> associated spinocerebellar ataxia
• Case Report: Identification of a novel <em>CASK</em> missense variant in a Chinese family with MICPCH
• Case Report: Rubella Virus-Induced Cutaneous Granulomas in Two Pediatric Patients With DNA Double Strand Breakage Repair Disorders - Outcome After Hematopoietic Stem Cell Transplantation
• Cellular mechanisms of oligoclonal vascular smooth muscle cell expansion in cardiovascular disease
• Cerebellar degeneration associated with HIV infection
• Cholecystokinin Activation of Cholecystokinin 1 Receptors: a Purkinje Cell Neuroprotective Pathway
• Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement
• Clinical and Molecular Spectrum of Degenerative Cerebellar Ataxia: A Single Centre Study
• Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia
• Clinical, Radiological, and Genetic Profile of Spinocerebellar Ataxia 12: A Hospital-Based Cohort Analysis
• Compounds activating VCP D1 ATPase enhance both autophagic and proteasomal neurotoxic protein clearance
• Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13
• Correction: Transcription factor EB-mediated mesenchymal stem cell therapy induces autophagy and alleviates spinocerebellar ataxia type 3 defects in neuronal cells model
• Corrigendum: Assessment of cerebral and cerebellar white matter microstructure in spinocerebellar ataxias 1, 2, 3, and 6 using diffusion MRI
• Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international experts
• Dexamethasone induces p21^cip1/waf1 expression via FoxO3a independently of the Lamin A/C-HDAC2 interaction in Ataxia Telangiectasia
• Disability in cerebellar ataxia syndromes is linked to cortical degeneration
• Discovery of Novel Activators of Large-Conductance Calcium-Activated Potassium Channels for the Treatment of Cerebellar Ataxia
• Distribution of Kv3.3 potassium channel subunits in distinct neuronal populations of mouse brain
• Effect of speech therapy on quality of life in patients with spinocerebelar ataxia type 3
• Effects of the administration of Elovl5-dependent fatty acids on a spino-cerebellar ataxia 38 mouse model
• Epilepsy as the symptom of a spinocerebellar ataxia 13 in a patient presenting with a mutation in the KCNC3 gene
• Episodic ataxias in children and adolescents: Clinical findings and suggested diagnostic criteria
• Erratum to "Spinocerebellar ataxia type 40: A case report and literature review"
• Experimental Treatment with Edaravone in a Mouse Model of Spinocerebellar Ataxia 1
• Exploration of clinical and genetic findings in Ataxia-Telangiectasia (AT) patients from the Indian subcontinent
• Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
• Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance
• Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)
• Gene therapy for selected neuromuscular and trinucleotide repeat disorders - An insight to subsume South Asia for multicenter clinical trials
• Genetic Ablation of Inositol 1,4,5-Trisphosphate Receptor Type 2 (IP₃R2) Fails to Modify Disease Progression in a Mouse Model of Spinocerebellar Ataxia Type 3
• Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
• Histopathology of the cerebellar cortex in essential tremor and other neurodegenerative motor disorders: comparative analysis of 320 brains
• Horizontal Vestibulo-Ocular Reflex Deficit as a Biomarker for Clinical Disease Onset, Severity, and Progression of Machado-Joseph Disease
• Infant and adult SCA13 mutations differentially affect Purkinje cell excitability, maturation, and viability in vivo
• Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
• Intermuscular coherence in spinocerebellar ataxias 3 and 6: a preliminary study
• Interrater Reliability of the Scale for the Assessment and Rating of Ataxia, Berg Balance Scale, and Functional Independence Measure Motor Domain in Individuals With Hereditary Cerebellar Ataxia
• Investigation on the growth factor regulatory network of dermal fibroblasts in mouse full-thickness skin defect wounds based on single-cell RNA sequencing
• KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking
• Kv3.3 immunoreactivity in the vestibular nuclear complex of the rat with focus on the medial vestibular nucleus: targeting of Kv3.3 neurones by terminals positive for vesicular glutamate transporter 1
• Kv3.3 potassium channels and spinocerebellar ataxia
• Label-free autofluorescence lifetime reveals the structural dynamics of ataxin-3 inside droplets formed via liquid-liquid phase separation
• Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13)
• Microglial Depletion Has No Impact on Disease Progression in a Mouse Model of Machado-Joseph Disease
• Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants
• Modeling Neurodegenerative Spinocerebellar Ataxia Type 13 in Zebrafish Using a Purkinje Neuron Specific Tunable Coexpression System
• Multiple Roles of Actin in Exo- and Endocytosis
• Mutation in the kv3.3 voltage-gated potassium channel causing spinocerebellar ataxia 13 disrupts sound-localization mechanisms
• Network Reconfiguration Among Cerebellar Visual, <em>and</em> Motor Regions Affects Movement Function <em>in</em> Spinocerebellar Ataxia Type <em>3</em>
• Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates
• Oculomotor and visual axis systems sparing in spinocerebellar ataxia type 13(R420H)
• Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
• Oral administration of live combined <em>Bacillus subtilis</em> and <em>Enterococcus faecium</em> alleviates colonic oxidative stress and inflammation in osteoarthritic rats by improving fecal microbiome metabolism and enhancing th
• Pearls &amp; Oy-sters: ATX-FGF14 Mimicking Autoimmune Pathology
• Potential Benefit of Channel Activators in Loss-of-Function Primary Potassium Channelopathies Causing Heredoataxia
• Quality of life and neurological disability in children and young people with ataxia telangiectasia
• Redefining the Foreign Antigen and Self-Driven Memory CD4⁺ T-Cell Compartments <em>via</em> Transcriptomic, Phenotypic, and Functional Analyses
• RNA Foci Formation in a Retinal Glial Model for Spinocerebellar Ataxia Type 7
• Sca13
• SCA13 causes dominantly inherited non-progressive myoclonus ataxia
• Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1
• Short Communication: Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal
• Short Communication: Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal
• Skeletal Muscle Pathogenesis in Polyglutamine Diseases
• Spectrum of sleep disorders in a patient with spinocerebellar ataxia 13
• Spinocerebellar ataxia 13 and 25
• Spinocerebellar Ataxia 13 Presenting with Pure Cerebellar Syndrome in a Korean Family
• Spinocerebellar ataxia type 13 mutation that is associated with disease onset in infancy disrupts axonal pathfinding during neuronal development
• Spinocerebellar ataxia type 31: A clinical and radiological literature review
• Spinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surface
• Spinocerebellar Degeneration: One Liter of Tears
• Systematic assessment of plasma biomarkers in spinocerebellar ataxia
• The genetic and molecular features of the intronic pentanucleotide repeat expansion in spinocerebellar ataxia type 10
• The progression rate of spinocerebellar ataxia type 3 varies with disease stage
• Therapeutic Strategies for Spinocerebellar Ataxia Type 1
• Toe Walking as the Initial Symptom of a Spinocerebellar Ataxia 13 in a Patient Presenting with a Mutation in the KCNC3 Gene
• Transcription factor EB-mediated mesenchymal stem cell therapy induces autophagy and alleviates spinocerebellar ataxia type 3 defects in neuronal cells model
• Transcriptome Profile of a New Mouse Model of Spinocerebellar Ataxia Type 14 Implies Changes in Cerebellar Development
• Triplet-primed PCR and Melting Curve Analysis for Rapid Molecular Screening of Spinocerebellar Ataxia Types 1, 2, and 3
• Two-year follow-up of docosahexaenoic acid supplementation in spinocerebellar ataxia type 38 (SCA38)