Disease: Spinocerebellar ataxia 30
- A Novel Co-existence of Spinocerebellar Ataxia 1 and Spinocerebellar Ataxia 2 Mutations in Indian Patients
- A rehabilitation program to increase balance and mobility in ataxia of Charlevoix-Saguenay: An exploratory study
- Abnormal scaffold attachment factor 1 expression and localization in spinocerebellar ataxias and Huntington's chorea
- Accidental Falls in Patients with Hyperkinetic Movement Disorders: A Systematic Review
- Altered cerebral blood flow in patients with spinocerebellar degeneration
- Ameliorating effect of rovatirelin on the ataxia in rolling mouse Nagoya
- Antisense Transcription across Nucleotide Repeat Expansions in Neurodegenerative and Neuromuscular Diseases: Progress and Mysteries
- Association of serum neurofilament light and disease severity in patients with spinocerebellar ataxia type 3
- Association of SLC22A1 rs622342 and ATM rs11212617 polymorphisms with metformin efficacy in patients with type 2 diabetes
- Ataxic Severity Is Positively Correlated With Fatigue in Spinocerebellar Ataxia Type 3 Patients
- Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain
- Between responsibility and desire: Accounts of reproductive decisions from those at risk for or affected by late-onset neurological diseases
- Brain MRI Volumetry Analysis in an Indonesian Family of SCA 3 Patients: A Case-Based Study
- Brain structural abnormalities in the preclinical stage of Machado-Joseph disease/spinocerebellar ataxia type 3 (MJD/SCA3): evaluation by MRI morphometry, diffusion tensor imaging and neurite orientation dispersion and density imaging
- CAG Repeat Size Influences the Progression Rate of Spinocerebellar Ataxia Type 3
- Cannabis use in patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
- Case Report: Deep brain stimulation improves tremor in <em>FGF-14</em> associated spinocerebellar ataxia
- CerebNet: A fast and reliable deep-learning pipeline for detailed cerebellum sub-segmentation
- Clinical and Molecular Spectrum of Degenerative Cerebellar Ataxia: A Single Centre Study
- Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3
- Co-existence of spastic paraplegia-30 with novel KIF1A mutation and spinocerebellar ataxia 31 with intronic expansion of BEAN and TK2 in a family
- Cognitive Decline Is Closely Associated with Ataxia Severity in Spinocerebellar Ataxia Type 2: a Validation Study of the Schmahmann Syndrome Scale
- Cognitive impairment and its neuroimaging correlates in spinocerebellar ataxia 2
- Cognitive impairment in spinocerebellar ataxia type 12
- Collaborative Efforts for Spinocerebellar Ataxia Research in the United States: CRC-SCA and READISCA
- Composite autonomic severity scoring in spinocerebellar ataxia type 1 and 2
- Conservative Iron Chelation for Neuroferritinopathy
- Corticospinal tract involvement in spinocerebellar ataxia type 3: a diffusion tensor imaging study
- Development and validation of an ultrahigh-performance liquid chromatography-tandem mass spectrometry method to investigate the plasma pharmacokinetics of a K<sub>Ca</sub> 2.2/K<sub>Ca</sub> 2.3 positive allosteric modulator in mic
- Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48
- Disability in cerebellar ataxia syndromes is linked to cortical degeneration
- Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations
- Effects of Repetitive Transcranial Magnetic Stimulation on Cerebellar Metabolism in Patients With Spinocerebellar Ataxia Type 3
- Effects of the administration of Elovl5-dependent fatty acids on a spino-cerebellar ataxia 38 mouse model
- Eip74EF is a dominant modifier for ALS-FTD-linked VCP<sup>R152H</sup> phenotypes in the Drosophila eye model
- Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review
- Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project
- Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
- Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study
- Family history as a clue to the diagnosis of orofacial abnormal movements in a 30-year-old man
- Gait training with a wearable curara® robot for cerebellar ataxia: a single-arm study
- Gait training with a wearable powered robot during stroke rehabilitation: a randomized parallel-group trial
- Genetic analysis of a child with Charlevoix-Saguenay spastic ataxia due to variant of SACS gene
- Genetic Dominant Variants in <em>STUB1,</em> Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16
- Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox-Gastaut syndrome
- GM2 gangliosidosis AB variant: first case of late onset and review of the literature
- Hsa-miR223-3p circulating level is upregulated in Friedreich's ataxia and inversely associated with HCLS1 associated protein X-1, HAX-1
- Inherited Cerebellar Ataxias: 5-Year Experience of the Irish National Ataxia Clinic
- Intrafamilial phenotypic variation in spinocerebellar ataxia type 23
- Investigation on the growth factor regulatory network of dermal fibroblasts in mouse full-thickness skin defect wounds based on single-cell RNA sequencing
- Liver Assessment in Patients with Ataxia-Telangiectasia: Transient Elastography Detects Early Stages of Steatosis and Fibrosis
- Long-term efficacy of bilateral subthalamic deep brain stimulation in the parkinsonism of SCA 3: A rare case report
- Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders
- Magnetic Resonance Imaging and Its Clinical Correlation in Spinocerebellar Ataxia Type 3: A Systematic Review
- Milestones in genetics of cerebellar ataxias
- Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants
- Mycoplasma DnaK increases DNA copy number variants in vivo
- Neuro-Ophthalmological Findings in Friedreich's Ataxia
- Neurocutaneous Syndromes, Perinatal Factors, and the Risk of Childhood Cancer in Sweden
- Neurofilament Light Chain Is a Biomarker of Neurodegeneration in Ataxia Telangiectasia
- Non-motor symptoms in patients with autosomal dominant spinocerebellar ataxia
- Novel Genetic Variant of Ataxia Telangiectasia Presenting with Necrotising Pneumonia and Bronchopleural Fistulae at the Age of 4 Years
- Novel mutation in a patient with Charlevoix-Saguenay ataxia-a very rare disease with classical symptoms
- Novel mutation in exon11 of <em>PRKCG</em> (SCA14): A case report
- Ovarian and uterine carcinosarcomas are sensitive in vitro and in vivo to elimusertib, a novel ataxia-telangiectasia and Rad3-related (ATR) kinase inhibitor
- Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report
- Pathogenic mechanisms underlying spinocerebellar ataxia type 1
- Phase I trial of ATM inhibitor M3541 in combination with palliative radiotherapy in patients with solid tumors
- Possibilities and challenges of small molecule organic compounds for the treatment of repeat diseases
- Progress of macular atrophy during 30 months' follow-up in a patient with spinocerebellar ataxia type1 (SCA1)
- Quantitation of the ataxia-telangiectasia-mutated and Rad3-related inhibitor elimusertib (BAY-1895344) in human plasma using LC-MS/MS
- Radiation-induced DNA damage and repair effects on 3D genome organization
- Real-Life Turning Movements Capture Subtle Longitudinal and Preataxic Changes in Cerebellar Ataxia
- Redox Imbalance Associates with Clinical Worsening in Spinocerebellar Ataxia Type 2
- Rovatirelin ameliorates motor dysfunction in the cytosine arabinoside-induced rat model of spinocerebellar degeneration via acetylcholine and dopamine neurotransmission
- RP-3500: A Novel, Potent, and Selective ATR Inhibitor that is Effective in Preclinical Models as a Monotherapy and in Combination with PARP Inhibitors
- Scale for the assessment and rating of ataxia: Age-dependent performance of healthy adults
- Short-term efficacy of repetitive transcranial magnetic stimulation in SCA3: A prospective, randomized, double-blind, sham-controlled study
- Simultaneous ALS and SCA2 associated with an intermediate-length <em>ATXN2</em> CAG-repeat expansion
- Small Molecule Rescue of ATXN3 Toxicity in C. elegans via TFEB/HLH-30
- Spinocerebellar Ataxia 12 Patients have better Quality of Life than Spinocerebellar Ataxia 1 and 2
- Spinocerebellar Ataxia Type 1 protein Ataxin-1 is signaled to DNA damage by ataxia-telangiectasia mutated kinase
- Spinocerebellar Ataxia Type 1: One-Year Longitudinal Study to Identify Clinical and MRI Measures of Disease Progression in Patients and Presymptomatic Carriers
- Spinocerebellar ataxia type 15 caused by missense variants in the ITPR1 gene
- Targeting mGlu1 Receptors in the Treatment of Motor and Cognitive Dysfunctions in Mice Modeling Type 1 Spinocerebellar Ataxia
- The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias
- The CCAS-scale in hereditary ataxias: helpful on the group level, particularly in SCA3, but limited in individual patients
- The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice
- The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson's disease in mainland China
- The longitudinal progression of MRI changes in pre-ataxic carriers of SCA3/MJD
- The Natural History of Spinocerebellar Ataxia Type 3 in Mainland China: A 2-Year Cohort Study
- The reliability of gait parameters captured via instrumented walkways: a systematic review and meta-analysis
- The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications
- Toxicity of pathogenic ataxin-2 in Drosophila shows dependence on a pure CAG repeat sequence
- Trehalose in Machado-Joseph Disease: Safety, Tolerability, and Efficacy
- Trinucleotide Repeat Disorders
- ULK overexpression mitigates motor deficits and neuropathology in mouse models of Machado-Joseph disease
- Urine levels of the polyglutamine ataxin-3 protein are elevated in patients with spinocerebellar ataxia type 3
- Vertical pons hyperintensity and hot cross bun sign in cerebellar-type multiple system atrophy and spinocerebellar ataxia type 3
- Which Factors in Spinocerebellar Ataxia Type 3 Patients Are Associated with Restless Legs Syndrome/Willis-Ekbom Disease?