• <em>In vitro</em> study of polydopamine nanoparticles as protective antioxidant agents in fibroblasts derived from ARSACS patients
• A Chinese SCA36 pedigree analysis of <em>NOP56</em> expansion region based on long-read sequencing
• A Comparison of Pathogenic Eukaryotic Elongation Factor 2 (EEF2) Variants in Spinocerebellar Ataxia 26 Versus De Novo Mutations
• A de novo SCA14 mutation in an isolated case of late-onset cerebellar ataxia
• A New Mouse Model Related to SCA14 Carrying a Pseudosubstrate Domain Mutation in PKCγ Shows Perturbed Purkinje Cell Maturation and Ataxic Motor Behavior
• A novel mutation in the C2 domain of protein kinase C gamma associated with spinocerebellar ataxia type 14
• A Systematic Review of the Spectrum and Prevalence of Non-Motor Symptoms in Adults with Hereditary Cerebellar Ataxias
• Age-related differences of cerebellar cortex and nuclei: MRI findings in healthy controls and its application to spinocerebellar ataxia (SCA6) patients
• Allele-specific quantitation of ATXN3 and HTT transcripts in polyQ disease models
• An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the Caribbean
• Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia
• ATM and ATR, two central players of the DNA damage response, are involved in the induction of systemic acquired resistance by extracellular DNA, but not the plant wound response
• Autosomal Recessive Spinocerebellar Ataxia Type 9 With a Response to Phosphate Repletion: A Case Report
• Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3
• Carbonic Anhydrase 8 Expression in Purkinje Cells Is Controlled by PKCγ Activity and Regulates Purkinje Cell Dendritic Growth
• CARPs regulate STUB1 and its pathogenic mutants aggregation kinetics by mono-ubiquitination
• Case report: A Chinese patient with spinocerebellar ataxia finally confirmed as Gerstmann-Sträussler-Scheinker syndrome with P102L mutation
• Case Report: Deep brain stimulation improves tremor in <em>FGF-14</em> associated spinocerebellar ataxia
• Case report: Saccadic ping-pong gaze in progressive supranuclear palsy with predominant postural instability
• Case report: Variants in the <em>ERCC4</em> gene as a rare cause of cerebellar ataxia with chorea
• Cerebellar neurochemical alterations in spinocerebellar ataxia type 14 appear to include glutathione deficiency
• Clinical and genetic features of a case with juvenile onset sandhoff disease
• Clinical and Molecular Spectrum of Degenerative Cerebellar Ataxia: A Single Centre Study
• Clinical and neurophysiological profile of four German families with spinocerebellar ataxia type 14
• Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia
• Clinically Meaningful Magnetic Resonance Endpoints Sensitive to Preataxic Spinocerebellar Ataxia Types 1 and 3
• Coenzyme Q10 Supplementation Increases Removal of the <em>ATXN3</em> Polyglutamine Repeat, Reducing Cerebellar Degeneration and Improving Motor Dysfunction in Murine Spinocerebellar Ataxia Type 3
• Cognition is only minimally impaired in Spinocerebellar ataxia type 14 (SCA14): a neuropsychological study of ten Norwegian subjects compared to intrafamilial controls and population norm
• Cognitive Dysfunction in Repeat Expansion Diseases: A Review
• Comparison of two families with and without ataxia harboring novel variants in PRKCG
• Congo red, an amyloid-inhibiting compound, alleviates various types of cellular dysfunction triggered by mutant protein kinase cγ that causes spinocerebellar ataxia type 14 (SCA14) by inhibiting oligomerization and aggregation
• Deficiency of ataxia-telangiectasia mutated kinase attenuates Western-type diet-induced cardiac dysfunction in female mice
• Demographics and Clinical Characteristics of Autosomal Dominant Spinocerebellar Ataxia in Canada
• Diagnosis of a patient with Spinocerebellar ataxia type 29 due to a novel variant of ITPR1 gene
• Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain
• Differences in spontaneous speech fluency between Parkinson's disease and spinocerebellar ataxia type 3
• Disability in cerebellar ataxia syndromes is linked to cortical degeneration
• Effects of Repetitive Transcranial Magnetic Stimulation on Cerebellar Metabolism in Patients With Spinocerebellar Ataxia Type 3
• Effects of transcranial magnetic stimulation on cerebellar ataxia: A systematic review and meta-analysis
• EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset
• Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia
• Gait training with a wearable powered robot during stroke rehabilitation: a randomized parallel-group trial
• 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
• Genetic and Epigenetic Interplay Define Disease Onset and Severity in Repeat Diseases
• Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders
• Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14
• Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population
• Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17
• High-Resolution Motion-corrected 7.0-T MRI to Derive Morphologic Measures from the Human Cerebellum in Vivo
• Histopathology of the cerebellar cortex in essential tremor and other neurodegenerative motor disorders: comparative analysis of 320 brains
• Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report
• Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1
• Hyperbaric Oxygen Therapy Attenuated the Motor Coordination and Cognitive Impairment of Polyglutamine Spinocerebellar Ataxia SCA17 Mice
• Identification and characterization of PKCγ, a kinase associated with SCA14, as an amyloidogenic protein
• Increased biological activity of protein Kinase C gamma is not required in Spinocerebellar ataxia 14
• Increased protein kinase C gamma activity induces Purkinje cell pathology in a mouse model of spinocerebellar ataxia 14
• Indirect Negative Effect of Mutant Ataxin-1 on Short- and Long-Term Synaptic Plasticity in Mouse Models of Spinocerebellar Ataxia Type 1
• Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14
• Machado Joseph-Disease Is Rare in the Peruvian Population
• Molecular pathophysiology of neurodegenerative disease caused by γPKC mutations
• Mutant PKCγ in spinocerebellar ataxia type 14 disrupts synapse elimination and long-term depression in Purkinje cells in vivo
• Mutant γPKC that causes spinocerebellar ataxia type 14 upregulates Hsp70, which protects cells from the mutant's cytotoxicity
• Mutations in protein kinase Cγ promote spinocerebellar ataxia type 14 by impairing kinase autoinhibition
• Network Reconfiguration Among Cerebellar Visual, <em>and</em> Motor Regions Affects Movement Function <em>in</em> Spinocerebellar Ataxia Type <em>3</em>
• Neurochemical Differences in Spinocerebellar Ataxia Type 14 and 1
• Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation
• New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14
• Novel mutation in exon11 of <em>PRKCG</em> (SCA14): A case report
• Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor Function
• Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
• Pearls &amp; Oy-sters: ATX-FGF14 Mimicking Autoimmune Pathology
• Pharmacological induction of heat shock proteins ameliorates toxicity of mutant PKCγ in spinocerebellar ataxia type 14
• Poly(A)-binding protein is an ataxin-2 chaperone that regulates biomolecular condensates
• PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from <em>PITRM1</em>-deficient patients
• Rare Germline <em>ATM</em> Variants Influence the Development of Chronic Lymphocytic Leukemia
• SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene
• Solution Nuclear Magnetic Resonance Structures of ATTTT and ATTTC Pentanucleotide Repeats Associated with SCA37 and FAMEs
• Spinocerebellar Ataxia 12 Patients have better Quality of Life than Spinocerebellar Ataxia 1 and 2
• Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family
• Spinocerebellar ataxia in a cohort of patients from Rio de Janeiro
• Spinocerebellar ataxia type 14
• Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report
• Spinocerebellar ataxia type 14 caused by a nonsense mutation in the PRKCG gene
• Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder
• Spinocerebellar ataxia type 15 caused by missense variants in the ITPR1 gene
• Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient
• Spinocerebellar ataxia type 8 in Russian patients
• Superior Cerebellar Atrophy: An Imaging Clue to Diagnose <em>ITPR1</em>-Related Disorders
• The CCAS-scale in hereditary ataxias: helpful on the group level, particularly in SCA3, but limited in individual patients
• The clinical and genetic spectrum of spinocerebellar ataxia 14
• The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson's disease in mainland China
• The Natural History of Spinocerebellar Ataxia Type 3 in Mainland China: A 2-Year Cohort Study
• The potential value of disease-modifying therapy in patients with spinocerebellar ataxia type 1: an early health economic modeling study
• Towards Personalized Allele-Specific Antisense Oligonucleotide Therapies for Toxic Gain-of-Function Neurodegenerative Diseases
• Transcriptome Profile of a New Mouse Model of Spinocerebellar Ataxia Type 14 Implies Changes in Cerebellar Development
• Two Sides of the Same Coin: Protein Kinase C γ in Cancer and Neurodegeneration
• Voxel-based meta-analysis of gray matter and white matter changes in patients with spinocerebellar ataxia type 3
• Writer's Cramp as the First Symptom of Spinocerebellar Ataxia 14
• Writer's Cramps as an Initial Symptom of Spinocerebellar Ataxia Type 14