Disease: Spinocerebellar ataxia- autosomal recessive 6
- 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 novel GBA2 gene missense mutation in spastic ataxia
- 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 mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease
- A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome
- A novel SETX gene mutation producing ataxia with oculomotor apraxia type 2
- A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome
- A Systematic Review of the Spectrum and Prevalence of Non-Motor Symptoms in Adults with Hereditary Cerebellar Ataxias
- Acute lymphoblastic leukemia in early childhood as the presenting sign of ataxia-telangiectasia variant
- An exploratory natural history of ataxia of Charlevoix-Saguenay: A 2-year follow-up
- Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15)
- Anesthetic and perioperative risk in the patient with Ataxia-Telangiectasia
- ANO10 Function in Health and Disease
- Ataxia with oculomotor apraxia: clinical-genetic characteristics and DNA-diagnostic
- Ataxia-Telangiectasia Presenting as Cerebral Palsy and Recurrent Wheezing: A Case Report
- Autosomal Recessive Cerebellar Ataxia 1: First Case Report Depicting a Variant in SYNE1 Gene in a Chilean Patient
- Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview
- Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature
- Autosomal recessive spinocerebellar ataxia-20 due to a novel SNX14 variant in an Indian girl
- Autosomal recessive spinocerebellar ataxias in Japan
- Biallelic mutation of <em>HSD17B4</em> induces middle age-onset spinocerebellar ataxia
- Body composition, muscle strength and hormonal status in patients with ataxia telangiectasia: a cohort study
- Case 293: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
- Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With <em>SYNE1</em> Mutation in a Chinese Family
- Case report: Variants in the <em>ERCC4</em> gene as a rare cause of cerebellar ataxia with chorea
- Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey
- Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia
- Clinical and Molecular Spectrum of Degenerative Cerebellar Ataxia: A Single Centre Study
- Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia
- Clinical features of 63 patients with ataxia
- Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed
- Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report
- Cutaneous Granulomatosis and Class Switching Defect as a Presenting Sign in Ataxia-Telangiectasia: First Case from the National Iranian Registry and Review of the Literature
- Determination of Genotypic and Phenotypic Characteristics of Friedreich's Ataxia and Autosomal Dominant Spinocerebellar Ataxia Types 1, 2, 3, and 6
- Development and validation of a disease severity index for ataxia of Charlevoix-Saguenay
- Diagnostic algorithm for autosomal recessive ataxia
- Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome
- Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS
- Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion
- EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood
- Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7
- 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
- Functional switching of ATM: sensor of DNA damage in proliferating cells and mediator of Akt survival signal in post-mitotic human neuron-like cells
- Genetics of ataxia telangiectasia in a highly consanguineous population
- Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort
- Growth hormone treatment in patients with ataxia telangiectasia
- Healing of granulomatous skin changes in ataxia-telangiectasia after treatment with intravenous immunoglobulin and topical mometasone 0.1% ointment
- Hepatosplenic αβ T-Cell Lymphoma as Second Malignancy in Young Adult Patient With Previously Undiagnosed Ataxia-Telangiectasia
- Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study
- Hereditary ataxia in four related Norwegian Buhunds
- Hereditary ataxias: overview
- Heterogeneity of Marinesco-Sjögren syndrome: report of two cases
- Heterozygous deletion in exon 6 of <em>STEX</em> gene causing ataxia with oculomotor apraxia type 2 (AOA-2) with ovarian failure
- 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
- Inflammation and transcriptional responses of peripheral blood mononuclear cells in classic ataxia telangiectasia
- Investigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia
- Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, Portugal
- Investigation of SCA10 in the Cypriot population: further exclusion of SCA dynamic repeat mutations
- Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review
- Mitochondrial redox sensing by the kinase ATM maintains cellular antioxidant capacity
- Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia
- Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination
- Neurological Disorders Associated with WWOX Germline Mutations-A Comprehensive Overview
- New mutation in ATM gen in patient whith Ataxia Telangiectasia: Clinical case
- New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
- Next-generation sequencing reveals a novel pathogenic variant in the <em>ATM</em> gene
- Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family
- Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjögren syndrome and Dandy-Walker syndrome
- Ocular-motor profile and effects of memantine in a familial form of adult cerebellar ataxia with slow saccades and square wave saccadic intrusions
- Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Otoneurological Abnormalities in Patients with Friedreich's Ataxia
- Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels?
- PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia
- Refractory T-cell/histiocyte-rich large B-cell lymphoma in a patient with ataxia-telangiectasia caused by novel compound heterozygous variants in ATM
- Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family
- RNA sequencing combining with whole exome sequencing reveals a compound heterozygous variant in ATM in a girl with atypical ataxia-telangiectasia
- Short Review: Investigating ARSACS: models for understanding cerebellar degeneration
- SKELETAL MUSCLE MITOCHONDRIAL ALTERATIONS IN CARBOXYL TERMINUS OF HSC70 INTERACTING PROTEIN (CHIP) -/- MICE
- Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing
- Successful treatment of acute myeloid leukaemia in a patient with ataxia telangiectasia
- Successful treatment of diffuse large B-cell lymphoma in a patient with ataxia telangiectasia using rituximab
- The Cerebellar Cognitive Affective Syndrome in Ataxia-Telangiectasia
- The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force
- The Effect of N-Acetyl-DL-Leucine on Neurological Symptoms in a Patient with Ataxia-Telangiectasia: a Case Study
- The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies
- Vestibular findings in autosomal recessive ataxia
- Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia
- WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period