Disease: Spinocerebellar ataxia 13
- 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 study on non-invasive prenatal screening for the detection of aneuploidy
- A Systematic Review of the Spectrum and Prevalence of Non-Motor Symptoms in Adults with Hereditary Cerebellar Ataxias
- Aberrant Cerebral Iron Trafficking Co-morbid With Chronic Inflammation: Molecular Mechanisms and Pharmacologic Intervention
- 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
- Anteroposterior Stability: A Determinant of Gait Dysfunction and Falls in Spinocerebellar Ataxia
- 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 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
- 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: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With <em>SYNE1</em> Mutation in a Chinese Family
- Case Report: Rubella Virus-Induced Cutaneous Granulomas in Two Pediatric Patients With DNA Double Strand Breakage Repair Disorders - Outcome After Hematopoietic Stem Cell Transplantation
- CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity
- Cellular mechanisms of oligoclonal vascular smooth muscle cell expansion in cardiovascular disease
- Cerebellar degeneration associated with HIV infection
- Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms
- Cholecystokinin 1 receptor activation restores normal mTORC1 signaling and is protective to Purkinje cells of SCA mice
- 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
- Comparison of Cardiac Autonomic Function in Type 2 Spinocerebellar Ataxia With Normal Control Using Heart Rate Variability as a Tool: A Cross-Sectional Study in Eastern India
- Compounds activating VCP D1 ATPase enhance both autophagic and proteasomal neurotoxic protein clearance
- 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<sup>cip1/waf1</sup> 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
- 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"
- Evolution of disability in spinocerebellar ataxias type 1, 2, 3, and 6
- 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
- Gait training with a wearable curara® robot for cerebellar ataxia: a single-arm study
- 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 (IP<sub>3</sub>R2) Fails to Modify Disease Progression in a Mouse Model of Spinocerebellar Ataxia Type 3
- Genetic Distribution of Five Spinocerebellar Ataxia Microsatellite Loci in Mexican Native American Populations and Its Impact on Contemporary Mestizo Populations
- Genetics of ataxia telangiectasia in a highly consanguineous population
- 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
- Impaired Lower Limb Proprioception in Spinocerebellar Ataxia Type 3 and Its Affected Factors
- 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
- Label-free autofluorescence lifetime reveals the structural dynamics of ataxin-3 inside droplets formed via liquid-liquid phase separation
- 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
- Multiple Roles of Actin in Exo- and Endocytosis
- Neonatal neuronal WWOX gene therapy rescues Wwox null phenotypes
- Network Reconfiguration Among Cerebellar Visual, <em>and</em> Motor Regions Affects Movement Function <em>in</em> Spinocerebellar Ataxia Type <em>3</em>
- Neuroinflammation in the Cerebellum and Brainstem in Friedreich Ataxia: An [18F]-FEMPA PET Study
- Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates
- 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
- Patient-Specific iPSCs-Based Models of Neurodegenerative Diseases: Focus on Aberrant Calcium Signaling
- Pearls & 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
- Real-life Wrist Movement Patterns Capture Motor Impairment in Individuals with Ataxia-Telangiectasia
- Redefining the Foreign Antigen and Self-Driven Memory CD4<sup>+</sup> T-Cell Compartments <em>via</em> Transcriptomic, Phenotypic, and Functional Analyses
- Reliability and validity of digital health metrics for assessing arm and hand impairments in an ataxic disorder
- RNA Foci Formation in a Retinal Glial Model for Spinocerebellar Ataxia Type 7
- Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial
- 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
- Spinocerebellar Ataxia 36: From Mutations Toward Therapies
- Spinocerebellar ataxia type 31: A clinical and radiological literature review
- Spinocerebellar Degeneration: One Liter of Tears
- Suppression of Kv3.3 channels by antisense oligonucleotides reverses biochemical effects and motor impairment in spinocerebellar ataxia type 13 mice
- 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)