Research By Disease – CheckOrphan

Disease: Spinocerebellar ataxia- autosomal recessive 4

A boy with a progressive neurologic decline harboring two coexisting mutations in KMT2D and VPS13D
A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2
A founder mutation p.H701P identified as a major cause of SPG7 in Norway
A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report
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 Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2
A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia
A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome
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
An unusual manifestation: Papillary thyroid carcinoma in a patient with ataxia-telengiectasia
ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype
Anoctamin 10-Related Autosomal Recessive Cerebellar Ataxia: Comprehensive Clinical Phenotyping of an Irish Sibship
ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India
Assessing mobility and balance in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay population: Validity and reliability of four outcome measures
Ataxia telangiectasia alters the ApoB and reelin pathway
Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature
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 4 with a VPS13D mutation: A case report
Bladder Artery Embolization for Massive Hematuria Treatment in a Patient With Ataxia-Telangiectasia Acute Lymphoblastic Leukemia
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 SYNE1 Mutation in a Chinese Family
Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey
Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan
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 features of 63 patients with ataxia
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)
Critical role of cerebellar fastigial nucleus in programming sequences of saccades
Cross-talk between DNA damage response and the central carbon metabolic network underlies selective vulnerability of Purkinje neurons in ataxia-telangiectasia
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)
Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7
Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia
Expanding the clinical and genetic heterogeneity of SPAX5
Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration
Exploration of clinical and genetic findings in Ataxia-Telangiectasia (AT) patients from the Indian subcontinent
Extending the phenotype of posterior column ataxia with retinitis pigmentosa caused by variants in FLVCR1
Functional mobility in walking adult population with ataxia of Charlevoix-Saguenay
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 Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16
Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline
Hereditary Ataxias in Cuba: A Nationwide Epidemiological and Clinical Study in 1001 Patients
Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia
Homozygosity mapping and next generation sequencing for the genetic diagnosis of hereditary ataxia and spastic paraplegia in consanguineous families
Homozygous ATM mutation due to germline uniparental isodisomy in patient with T acute lymphoblastic leukemia and hepatosplenic T-cell lymphoma
Hot topic: PNKP mutations cause ataxia with oculomotor apraxia type 4
Huntington's Disease, Huntington's Disease Look-Alikes‎, and Benign Hereditary Chorea: What's New?
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
Identification of compound heterozygous mutations of SACS gene in two patients from a pedigree with spastic ataxia of Charlevoix-Saguenay
Individual Radiosensitivity Assessment of the Families of Ataxia-Telangiectasia Patients by G2-Checkpoint Abrogation
Inflammation and transcriptional responses of peripheral blood mononuclear cells in classic ataxia telangiectasia
Integrated genome and transcriptome analyses reveal the mechanism of genome instability in ataxia with oculomotor apraxia 2
Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia
Melanoma arising in a patient with ataxia-telangiectasia: A call for full skin examinations in this patient population
Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review
NAD+ Replenishment Improves Lifespan and Healthspan in Ataxia Telangiectasia Models via Mitophagy and DNA Repair
Neurological Disorders Associated with WWOX Germline Mutations-A Comprehensive Overview
New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to VPS13D Variants
New mutation in ATM gen in patient whith Ataxia Telangiectasia: Clinical case
Noted Tension Headache, Anxiety, and Depression in a Chinese Patient with Spinocerebellar Ataxia, Autosomal Recessive 10 Caused by a Novel Anoctamin 10 Mutation
Novel Genetic Variant of Ataxia Telangiectasia Presenting with Necrotising Pneumonia and Bronchopleural Fistulae at the Age of 4 Years
Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient
Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4
Optical Coherence Tomography Findings Facilitate the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay
Otoneurological Abnormalities in Patients with Friedreich's Ataxia
PERK inhibition delays neurodegeneration and improves motor function in a mouse model of Marinesco-Sjögren syndrome
Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease
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
Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature
Primary coenzyme Q10 deficiency due to COQ8A gene mutations
Pure-Tone Hearing Thresholds and Brainstem Auditory Evoked Potentials in Sporadic Ataxia
Reliability and validity of digital health metrics for assessing arm and hand impairments in an ataxic disorder
Roles of inositol 1,4,5-trisphosphate receptors in spinocerebellar ataxias
Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene)
SKELETAL MUSCLE MITOCHONDRIAL ALTERATIONS IN CARBOXYL TERMINUS OF HSC70 INTERACTING PROTEIN (CHIP) -/- MICE
Speech treatment improves dysarthria in multisystemic ataxia: a rater-blinded, controlled pilot-study in ARSACS
Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient
Spinocerebellar ataxia with axonal neuropathy type 1 revisited
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
Systematic review of autosomal recessive ataxias and proposal for a classification
Targeting the enhanced ER stress response in Marinesco-Sjögren syndrome
Targeting Tyrosyl-DNA phosphodiesterase I to enhance toxicity of phosphodiester linked DNA-adducts
The Cerebellar Cognitive Affective Syndrome in Ataxia-Telangiectasia
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families
The Effect of N-Acetyl-DL-Leucine on Neurological Symptoms in a Patient with Ataxia-Telangiectasia: a Case Study
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
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
Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation