Research By Disease – CheckOrphan

Disease: Spinocerebellar ataxia- autosomal recessive 3

In vitro study of polydopamine nanoparticles as protective antioxidant agents in fibroblasts derived from ARSACS patients
SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment
A homozygous missense variant in the homeobox domain of the NKX6-2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations
A new MRI marker of ataxia with oculomotor apraxia
A novel compound heterozygous mutation in the COA7 gene responsible for a Chinese patient with spinocerebellar ataxia with axonal neuropathy type 3
A novel compound heterozygous SPG7 variant is associated with progressive spastic ataxia and persecutory delusions found in Chinese patients: two case reports
A novel mutation in ATM gene in a Saudi female with ataxia telangiectasia
A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset
A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants
Allogeneic Stem Cell Transplantation after Fanconi Anemia Conditioning in Children with Ataxia-Telangiectasia Results in Stable T Cell Engraftment and Lack of Infections despite Mixed Chimerism
An Overview of the Current State and the Future of Ataxia Treatments
Analysis of SACS mutation in a family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay
Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15)
ANO10 Function in Health and Disease
ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype
Ataxia telangiectasia alters the ApoB and reelin pathway
Ataxia-telangiectasia: A review of clinical features and molecular pathology
ATM is activated by ATP depletion and modulates mitochondrial function through NRF1
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature
Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study
Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain
Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain
Autosomal Recessive Spinocerebellar Ataxia Type 9 With a Response to Phosphate Repletion: A Case Report
Bladder Artery Embolization for Massive Hematuria Treatment in a Patient With Ataxia-Telangiectasia Acute Lymphoblastic Leukemia
CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia
Case 293: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Case report: Variants in the ERCC4 gene as a rare cause of cerebellar ataxia with chorea
Cerebrotendinous xanthomatosis revisited
Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs
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 findings in a cohort of Chinese patients with autosomal recessive spinocerebellar ataxia
Clinical and immunological assessment of children with ataxia telangiectasia attending Sohag university hospital in Upper Egypt
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 features of 63 patients with ataxia
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations
Coexistence of spinocerebellar ataxia autosomal recessive type 21 and Ehlers-Danlos syndrome spondylodysplastic type 3 in a patient
Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report
Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)
Dermatofibrosarcoma protuberans in a pediatric patient with ataxia telangiectasia syndrome
Development and validation of a disease severity index for ataxia of Charlevoix-Saguenay
Diagnostic algorithm for autosomal recessive ataxia
Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2)
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
Dysfunction of cerebellar microglia in Ataxia-telangiectasia
Effect of Class Switch Recombination Defect on the Phenotype of Ataxia-Telangiectasia Patients
Effectiveness of functional trunk training on trunk control and upper limb functions in patients with autosomal recessive hereditary ataxia
Evaluation of Cerebellar Ataxic Patients
Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7
Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis
Expanding the clinical and genetic heterogeneity of SPAX5
Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay
Expanding the Landscape of Spinocerebellar Ataxia Type 5
Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration
Extending the Phenotypic Spectrum Associated with STUB1 Mutations: A Case of Dystonia
Focal dystonia in a case of SYNE1 spastic-ataxia: Expanding the phenotypic spectrum
Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene
Genetic analysis of a child with Charlevoix-Saguenay spastic ataxia due to variant of SACS gene
Genetic ataxias: update on classification and diagnostic approaches
Genetics of ataxia telangiectasia in a highly consanguineous population
Hereditary ataxia in four related Norwegian Buhunds
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
Infantile-Onset Spinocerebellar Ataxia Type 5 (SCA5) with Optic Atrophy and Peripheral Neuropathy
Investigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia
Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene
Liver Assessment in Patients with Ataxia-Telangiectasia: Transient Elastography Detects Early Stages of Steatosis and Fibrosis
Measurement properties of wheelchair use assessment tools in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay
Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient
Novel homozygous ataxia‑telangiectasia (A‑T) mutated gene mutation identified in a Chinese pedigree with A‑T
Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia
Participation and Functional Independence in Adults With Recessive Spastic Ataxia of Charlevoix-Saguenay
Past and Present of Eye Movement Abnormalities in Ataxia-Telangiectasia
Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene
PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy
Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn
Pure-Tone Hearing Thresholds and Brainstem Auditory Evoked Potentials in Sporadic Ataxia
Recessive Ataxia Differential Diagnosis Algorithm (RADIAL) Versus Specific Niemann-Pick Type C Suspicion Indices: A Retrospective Algorithm Comparison
Recessive ataxias
Recurrent Acute Liver Failure in a Bahraini Child With a Novel Mutation of Spinocerebellar Ataxia-21
Refractory T-cell/histiocyte-rich large B-cell lymphoma in a patient with ataxia-telangiectasia caused by novel compound heterozygous variants in ATM
Retinal axonal degeneration in Niemann-Pick type C disease
SCAN1-TDP1 trapping on mitochondrial DNA promotes mitochondrial dysfunction and mitophagy
Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene)
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
Spinocerebellar ataxia with axonal neuropathy type 1 revisited
STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16
SYNE1-ataxia: Novel genotypic and phenotypic findings
The Cerebellar Cognitive Affective Syndrome in Ataxia-Telangiectasia
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families
The natural history of ataxia-telangiectasia (A-T): A systematic review
The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort
Trihexyphenidyl for treatment of dystonia in ataxia telangiectasia: a case report
Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy
Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs
Two novel variants in the ATM gene causing ataxia-telangiectasia, including a duplication of 90 kb: Utility of targeted next-generation sequencing in detection of copy number variation
Widening the spectrum of spinocerebellar ataxia autosomal recessive type 10 (SCAR10)