Disease: Spinocerebellar ataxia 5
- 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
- Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease
- 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 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