Disease: Spinocerebellar ataxia- autosomal recessive 5
- <em>In vitro</em> study of polydopamine nanoparticles as protective antioxidant agents in fibroblasts derived from ARSACS patients
- A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds
- A master protocol to investigate a novel therapy acetyl-L-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia
- A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers
- A new MRI marker of ataxia with oculomotor apraxia
- A novel compound heterozygous mutation in the <em>COA7</em> gene responsible for a Chinese patient with spinocerebellar ataxia with axonal neuropathy type 3
- A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature
- A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis
- A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome
- A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset
- A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy
- A PNPLA8 frameshift variant in Australian shepherd dogs with hereditary ataxia
- A Systematic Review of the Spectrum and Prevalence of Non-Motor Symptoms in Adults with Hereditary Cerebellar Ataxias
- Altered translational repression of an RNA-binding protein, Elav by AOA2-causative Senataxin mutation
- Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15)
- ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype
- Ataxia telangiectasia: what the neurologist needs to know
- Ataxia with oculomotor apraxia is associated with the DNA damage repair pathway
- ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
- Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations
- Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease)
- Autosomal Recessive Spinocerebellar Ataxia Type 9 With a Response to Phosphate Repletion: A Case Report
- CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592
- Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways
- Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23)
- Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey
- Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement
- Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia
- Clinical and immunological assessment of children with ataxia telangiectasia attending Sohag university hospital in Upper Egypt
- Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra
- Clinical and Molecular Spectrum of Degenerative Cerebellar Ataxia: A Single Centre Study
- Clinical diagnosis and genetic counseling of atypical ataxia‑telangiectasia in a Chinese family
- Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations
- Cognitive characterization of SCAR10 caused by a homozygous c.132dupA mutation in the ANO10 gene
- Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1
- Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know
- Development and validation of a disease severity index for ataxia of Charlevoix-Saguenay
- Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in Aprataxin-deficient cells
- Documenting the psychometric properties of the scale for the assessment and rating of ataxia to advance trial readiness of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
- Epilepsia Partialis Continua a Clinical Feature of a Missense Variant in the ADCK3 Gene and Poor Response to Therapy
- Erratum: Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)
- Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient
- Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8
- Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Expanding the Landscape of Spinocerebellar Ataxia Type 5
- Expanding the phenotype of AFG3L2 mutations: Late-onset autosomal recessive spinocerebellar ataxia
- Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration
- Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder
- Exploration of clinical and genetic findings in Ataxia-Telangiectasia (AT) patients from the Indian subcontinent
- Exploring an animal model of amodiaquine-induced liver injury in rats and mice
- Genetic analysis of a child with Charlevoix-Saguenay spastic ataxia due to variant of SACS gene
- Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations
- Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline
- Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study
- Hereditary ataxia in four related Norwegian Buhunds
- Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia
- Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
- IGF-1 in Friedreich's Ataxia - proof-of-concept trial
- Individual Radiosensitivity Assessment of the Families of <em>Ataxia-Telangiectasia</em> Patients by G2-Checkpoint Abrogation
- Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy
- Infantile-Onset Spinocerebellar Ataxia Type 5 (SCA5) with Optic Atrophy and Peripheral Neuropathy
- Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the <em>ATM</em> gene
- Measurement properties of wheelchair use assessment tools in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review
- Molecular defects in Moroccan patients with ataxia-telangiectasia
- Molecular underpinnings of Aprataxin RNA/DNA deadenylase function and dysfunction in neurological disease
- NADPH oxidase 4 is a critical mediator in Ataxia telangiectasia disease
- New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation
- New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient
- Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjögren syndrome and Dandy-Walker syndrome
- PERK inhibition delays neurodegeneration and improves motor function in a mouse model of Marinesco-Sjögren syndrome
- Persistent DNA damage associated with ATM kinase deficiency promotes microglial dysfunction
- Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder
- PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia
- Posterior cerebellar Purkinje cells in an SCA5/SPARCA1 mouse model are especially vulnerable to the synergistic effect of loss of β-III spectrin and GLAST
- Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Recessive ataxias
- Recessive spinocerebellar ataxia with paroxysmal cough attacks: a report of five cases
- Reliability and validity of digital health metrics for assessing arm and hand impairments in an ataxic disorder
- RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia
- RNA sequencing combining with whole exome sequencing reveals a compound heterozygous variant in ATM in a girl with atypical ataxia-telangiectasia
- Roles of inositol 1,4,5-trisphosphate receptors in spinocerebellar ataxias
- SCAN1-TDP1 trapping on mitochondrial DNA promotes mitochondrial dysfunction and mitophagy
- Senataxin suppresses the antiviral transcriptional response and controls viral biogenesis
- Speech treatment improves dysarthria in multisystemic ataxia: a rater-blinded, controlled pilot-study in ARSACS
- Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1
- Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient
- Spinocerebellar ataxia type 28 in a Chinese pedigree: A case report and literature review
- SYNE1-ataxia: Novel genotypic and phenotypic findings
- Targeting the enhanced ER stress response in Marinesco-Sjögren syndrome
- Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms
- The Cerebellar Cognitive Affective Syndrome in Ataxia-Telangiectasia
- The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families
- The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies
- Tyrosyl-DNA Phosphodiesterase I a critical survival factor for neuronal development and homeostasis
- Vestibular findings in autosomal recessive ataxia
- WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period
- β-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations
- βIII Spectrin Is Necessary for Formation of the Constricted Neck of Dendritic Spines and Regulation of Synaptic Activity in Neurons