Disease: Spinocerebellar ataxia 1
- [Translated article] RF - Ataxia-Telangiectasia: The Dermatologist's Role in Diagnosis and a Model of Premature Aging
- A Chinese Family with Digenic TBP/STUB1 Spinocerebellar Ataxia
- A novel role for the ROS-ATM-Chk2 axis mediated metabolic and cell cycle reprogramming in the M1 macrophage polarization
- A-T neurodegeneration and DNA damage-induced transcriptional stress
- AAV-Mediated CAG-Targeting Selectively Reduces Polyglutamine-Expanded Protein and Attenuates Disease Phenotypes in a Spinocerebellar Ataxia Mouse Model
- Abnormal cortical excitability in patients with spinocerebellar ataxia type 12
- Abnormal vestibular-evoked myogenic potentials as a risk factor for unpredicted falls in spinocerebellar ataxia: a preliminary study
- Abnormalities in signal transduction of Purkinje cells in spinocerebellar ataxias: a review
- Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4
- An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines
- Anesthetic Management of a Patient With Spinocerebellar Ataxia Type 1
- Antioxidants and azd0156 Rescue Inflammatory Response in Autophagy-Impaired Macrophages
- Ataxia telangiectasia and Rad3-related (ATR) inhibition by VE-822 potently reversed 5-flourouracil resistance in colorectal cancer cells through targeting DNA damage response
- 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
- ATXN7-Related Cone-Rod Dystrophy: The Integrated Functional Evaluation of the Cerebellum (CERMOI) Study
- 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
- Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration
- Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG-PET presentation in spinocerebellar ataxia 17: a case report
- Cognitive, Emotional, and Other Non-motor Symptoms of Spinocerebellar Ataxias
- Compressed cerebellar functional connectome hierarchy in spinocerebellar ataxia type 3
- Cranial Nerve Thinning Distinguishes RFC1-Related Disorder from Other Late-Onset Ataxias
- Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing
- Cucurbitacin B suppresses hepatocellular carcinoma progression through inducing DNA damage-dependent cell cycle arrest
- Design, synthesis, and biological characterization of proteolysis targeting chimera (PROTACs) for the ataxia telangiectasia and RAD3-related (ATR) kinase
- Different Purkinje cell pathologies cause specific patterns of progressive gait ataxia in mice
- Digital Gait Measures Capture 1-Year Progression in Early-Stage Spinocerebellar Ataxia Type 2
- Digital Measures of Postural Sway Quantify Balance Deficits in Spinocerebellar Ataxia
- Dimeric structures of DNA ATTTC repeats promoted by divalent cations
- Discovery of the first ataxia telangiectasia and Rad3-related (ATR) degraders for cancer treatment
- 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
- Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
- 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
- Early-onset familial essential tremor is associated with nucleotide expansions of spinocerebellar ataxia in China
- Fatigue Impacts Quality of Life in People with Spinocerebellar Ataxias
- Generation of an Induced pluripotent stem cell (iPSC) line (IGIBi011-A) from a Spinocerebellar ataxia type 12 gait dominant patient
- Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study
- Gerstmann-Straussler-Scheinker Disease Presenting as Late-Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology
- Glucocorticoid receptor-dependent therapeutic efficacy of tauroursodeoxycholic acid in preclinical models of spinocerebellar ataxia type 3
- Graft-derived neurons and bystander effects are maintained for six months after human iPSC-derived NESC transplantation in mice's cerebella
- Hereditary Ataxias: From Bench to Clinic, Where Do We Stand?
- Herpes Zoster With Ataxia Telangiectasia
- Identification of ATM-dependent long non-coding RNAs induced in response to DNA damage
- Identification of Novel, Selective Ataxia-Telangiectasia Mutated Kinase Inhibitors with the Ability to Penetrate the Blood-Brain Barrier: The Discovery of AZD1390
- Inhibition of ATM promotes PD-L1 expression by activating JNK/c-Jun/TNF-α signaling axis in triple-negative breast cancer
- Integrated bioinformatics approach to unwind key genes and pathways involved in colorectal cancer
- Integration of graph network with kernel SVM and logistic regression for identification of biomarkers in SCA12 and its diagnosis
- Investigating the therapeutic effects of novel compounds targeting inflammatory IL-1beta and IL-6 signaling pathways in spinocerebellar ataxia type 3
- Investigating the therapeutic effects of novel compounds targeting inflammatory IL-1β and IL-6 signaling pathways in spinocerebellar ataxia type 3
- Longitudinal MRI and 1H-MRS study of SCA7 mouse forebrain reveals progressive multiregional atrophy and early brain metabolite changes indicating early neuronal and glial dysfunction
- Malignancies and Lymphoproliferations in Children With Primary Immune Deficiency-A Single-center Experience
- Memantine suppresses the excitotoxicity but fails to rescue the ataxic phenotype in SCA1 model mice
- Mitochondrial damage and impaired mitophagy contribute to disease progression in SCA6
- Modification of Huntington's disease by short tandem repeats
- Neurological involvement in patients with primary immunodeficiency
- Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound
- Novel genotype-phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)(n) insertion in spinocerebellar ataxia type 37
- Nucleus accumbens degeneration in spinocerebellar ataxia type 2: a preliminary study
- On the Cut-Off Value of the Anteroposterior Diameter of the Midbrain Atrophy in Spinocerebellar Ataxia Type 2 Patients
- Oxidative stress and ion channels in neurodegenerative diseases
- Patient-Reported Outcomes and Medical Provider Satisfaction Among Adult and Pediatric Ataxia-Telangiectasia Patients
- Pharmacological inhibition of acetylcholinesterase improves the locomotion defective phenotype of a SCA3 <em>C. elegans</em> model
- 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
- Photocontrol of the β-Hairpin Polypeptide Structure through an Optimized Azobenzene-Based Amino Acid Analogue
- PIM Kinase Inhibition Attenuates the Malignant Progression of Metastatic Hepatoblastoma
- 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
- Potentiating the radiation-induced type I interferon antitumoral immune response by ATM inhibition in pancreatic cancer
- Probing cerebellar circuit dysfunction in rodent models of spinocerebellar ataxia by means of in vivo two-photon calcium imaging
- Regulation of transcription patterns, poly(ADP-ribose), and RNA-DNA hybrids by the ATM protein kinase
- Retinal End Points for ATXN7-Related Spinocerebellar Ataxia
- Retinal OCT biomarkers and neurodegenerative diseases of the central nervous system beyond Alzheimer's disease
- Spermidine treatment: induction of autophagy but also apoptosis?
- Spinocerebellar ataxia 27B (SCA27B), a frequent late-onset cerebellar ataxia
- Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia
- Spinocerebellar ataxia type 2 has multiple ancestral origins
- Spinocerebellar Ataxia Type 3 Pathophysiology-Implications for Translational Research and Clinical Studies
- Structural Brain Correlates of Sleep Microstructure in Spinocerebellar Ataxia Type 2 and its Role on Clinical Phenotype
- Structural Validity of the Mini-Balance Evaluation Systems Test in Individuals With Spinocerebellar Ataxia: A Rasch Analysis Study
- Subcellular localization and ER-mediated cytotoxic function of alpha1A and alpha1ACT in spinocerebellar ataxia type 6
- Subcellular localization and ER-mediated cytotoxic function of α1A and α1ACT in spinocerebellar ataxia type 6
- The ATM Ser49Cys Variant Effects ATM Function as a Regulator of Oncogene-Induced Senescence
- The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias
- The deubiquitinase function of ataxin-3 and its role in the pathogenesis of Machado-Joseph disease and other diseases
- The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations
- The MRE11-ATM-SOG1 DNA damage signaling pathway confers rice immunity to Xanthomonas oryzae
- The natural breakthrough: phytochemicals as potent therapeutic agents against spinocerebellar ataxia type 3
- The Phenotypic Spectrum of Spinocerebellar Ataxia Type 19 in a Series of Latin American Patients
- Therapeutic Options Targeting the Ataxia-Telangiectasia Mutated (ATM)-mediated DNA Damage Response, Macropinocytosis, and Adaptive Immunity in Ovarian Cancer
- Transcriptional profiling of peripheral blood mononuclear cells identifies inflammatory phenotypes in Ataxia Telangiectasia
- Treatment with sodium butyrate induces autophagy resulting in therapeutic benefits for spinocerebellar ataxia type 3
- Tumor-educated Gr1+CD11b+ cells drive breast cancer metastasis via OSM/IL-6/JAK-induced cancer cell plasticity
- 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
- Videoocular assessment of eye movement activity in an ataxia-telangiectasia: a case study