Research By Disease – CheckOrphan

Disease: Spinocerebellar ataxia- autosomal recessive 1

A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report
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 new model to study neurodegeneration in ataxia oculomotor apraxia type 2
A new MRI marker of ataxia with oculomotor apraxia
A novel compound heterozygous SPG7 variant is associated with progressive spastic ataxia and persecutory delusions found in Chinese patients: two case reports
A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2
A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family
A novel SETX gene mutation producing ataxia with oculomotor apraxia type 2
A Novel SETX Mutation in a Taiwanese Patient with Autosomal Recessive Cerebellar Ataxia Detected by Targeted Next-Generation Sequencing, and a Literature Review
A Novel Variant in CWF19L1 Gene in a Family with Late-Onset Autosomal Recessive Cerebellar Ataxia 17
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
Ataxia telangiectasia: what the neurologist needs to know
Ataxia with oculomotor apraxia is associated with the DNA damage repair pathway
Ataxia with oculomotor apraxia type 2 (AOA2): an eye movement study of two siblings
Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature
Autosomal Recessive Cerebellar Ataxia 1: First Case Report Depicting a Variant in SYNE1 Gene in a Chilean Patient
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) in a Thai Patient: The Classic Clinical Manifestations, Funduscopic Feature, and Brain Imaging Findings with a Novel Mutation in the SACS Gene
Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain
C-terminus of Hsp70 Interacting Protein (CHIP) and Neurodegeneration: Lessons from the Bench and Bedside
CARPs regulate STUB1 and its pathogenic mutants aggregation kinetics by mono-ubiquitination
Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family
Case report: Variants in the ERCC4 gene as a rare cause of cerebellar ataxia with chorea
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 ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families
Clinical and Molecular Spectrum of Degenerative Cerebellar Ataxia: A Single Centre Study
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
Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1
Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report
Current Diagnosis and Management of Abetalipoproteinemia
Diagnostic Optic Nerve Features in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48
Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in Aprataxin-deficient cells
Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2)
Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations
Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome
Effectiveness of functional trunk training on trunk control and upper limb functions in patients with autosomal recessive hereditary ataxia
Elevated inflammatory responses and targeted therapeutic intervention in a preclinical mouse model of ataxia-telangiectasia lung disease
Evaluation of Cerebellar Ataxic Patients
Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7
Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1
Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia
Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration
Extending the phenotype of posterior column ataxia with retinitis pigmentosa caused by variants in FLVCR1
Focal dystonia in a case of SYNE1 spastic-ataxia: Expanding the phenotypic spectrum
Functional mobility in walking adult population with ataxia of Charlevoix-Saguenay
Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX gene
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
Genetic Risk Variants for Class Switching Recombination Defects in Ataxia-Telangiectasia Patients
Genetic Variant in GRM1 Underlies Congenital Cerebellar Ataxia with No Obvious Intellectual Disability
Genetics of ataxia telangiectasia in a highly consanguineous population
Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration
Heterozygous deletion in exon 6 of STEX gene causing ataxia with oculomotor apraxia type 2 (AOA-2) with ovarian failure
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
Homozygosity mapping and next generation sequencing for the genetic diagnosis of hereditary ataxia and spastic paraplegia in consanguineous families
Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report
Hot topic: PNKP mutations cause ataxia with oculomotor apraxia type 4
Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia-Telangiectasia patients
Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia
Increased oxidative stress in AOA3 cells disturbs ATM-dependent DNA damage responses
Integrated genome and transcriptome analyses reveal the mechanism of genome instability in ataxia with oculomotor apraxia 2
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
Molecular underpinnings of Aprataxin RNA/DNA deadenylase function and dysfunction in neurological disease
Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4
Neuro-Ophthalmological Findings in Friedreich's Ataxia
Novel detection of mutation in the TECPR2 gene in a Chinese hereditary spastic paraplegia 49 patient: a case report
Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient
Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia
Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4
Oculomotor deficits affect neuropsychological performance in oculomotor apraxia type 2
Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease
PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia
R-loops in proliferating cells but not in the brain: implications for AOA2 and other autosomal recessive ataxias
Refractory T-cell/histiocyte-rich large B-cell lymphoma in a patient with ataxia-telangiectasia caused by novel compound heterozygous variants in ATM
Research advance on the pathogenesis of autosomal recessive spastic ataxia of Charlevoix-Saguenay
Saccades and eye-head coordination in ataxia with oculomotor apraxia type 2
Senataxin suppresses the antiviral transcriptional response and controls viral biogenesis
SETX gene novel mutations in a non-French Canadian with ataxia-oculomotor apraxia type 2
Some pathogenic SETX variants are partially conserved during evolution
Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient
Synaptic Nuclear Envelope Protein 1 (SYNE 1) Ataxia with Amyotrophic Lateral Sclerosis-like Presentation: A Novel Synaptic Nuclear Envelope Protein 1 (SYNE 1) Gene Deletion Mutation from India
T cell ALL in a child with Ataxia telangiectasia; diagnosis and management challenges
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias
The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice
The Effect of N-Acetyl-DL-Leucine on Neurological Symptoms in a Patient with Ataxia-Telangiectasia: a Case Study
The investigated case of etiology of chylous pleural effusion: Ataxia-telangiectasia
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
Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy
Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20
Two novel mutations of the SETX gene and ataxia with oculomotor apraxia type 2
Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon
Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia