Disease: Spinocerebellar ataxia- autosomal recessive- with axonal neuropathy
- <em>POLG</em>-Related Disorders
- 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 compound heterozygous mutation in the COA7 gene responsible for a Chinese patient with spinocerebellar ataxia with axonal neuropathy type 3
- A Novel SETX Mutation in a Taiwanese Patient with Autosomal Recessive Cerebellar Ataxia Detected by Targeted Next-Generation Sequencing, and a Literature Review
- ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia
- Ataxia of Charlevoix-Saguenay: MR and Clinical Results in Lower-Limb Musculature
- Ataxias with autosomal, X-chromosomal or maternal inheritance
- Autosomal recessive cerebellar ataxias
- Autosomal Recessive Cerebellar Ataxias With Elevated Alpha-Fetoprotein: Uncommon Diseases, Common Biomarker
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families
- Case 293: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
- Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families
- Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra
- Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations
- Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1
- Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2)
- Distinct phenotypes within autosomal recessive ataxias not linked to already known loci
- Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1
- 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
- Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations
- Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations
- Identifying SYNE1 ataxia and extending the mutational spectrum in Korea
- In vitro complementation of Tdp1 deficiency indicates a stabilized enzyme-DNA adduct from tyrosyl but not glycolate lesions as a consequence of the SCAN1 mutation
- Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky
- Infantile-Onset Spinocerebellar Ataxia
- Infantile-Onset Spinocerebellar Ataxia - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
- Integrative Organelle-Based Functional Proteomics: In Silico Prediction of Impaired Functional Annotations in <em>SACS</em> KO Cell Model
- Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the <em>ATM</em> gene
- Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene
- Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family
- Mitochondrial recessive ataxia syndrome: A neurological rarity not to be missed
- Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy
- Mutations in PEX10 are a cause of autosomal recessive ataxia
- Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound
- Ocular-motor profile and effects of memantine in a familial form of adult cerebellar ataxia with slow saccades and square wave saccadic intrusions
- Peripheral nerve involvement in hereditary cerebellar and multisystem degenerative disorders
- Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia
- POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease
- SCAN1-TDP1 trapping on mitochondrial DNA promotes mitochondrial dysfunction and mitophagy
- scAN1.0: A reproducible and standardized pipeline for processing 10X single cell RNAseq data
- Spinocerebellar ataxia with axonal neuropathy
- Spinocerebellar Ataxia with Axonal Neuropathy Type 1
- Spinocerebellar ataxia with axonal neuropathy type 1 revisited
- Targeting Tyrosyl-DNA phosphodiesterase I to enhance toxicity of phosphodiester linked DNA-adducts
- The nosological situation of hereditary motor and sensory neuropathies (HMSN, Charcot-Marie-Tooth disease, neural muscular atrophy)
- Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia
- Tyrosyl-DNA Phosphodiesterase I a critical survival factor for neuronal development and homeostasis
- Tyrosyl-DNA phosphodiesterase I catalytic mutants reveal an alternative nucleophile that can catalyze substrate cleavage
- Tyrosyl-DNA phosphodiesterase I resolves both naturally and chemically induced DNA adducts and its potential as a therapeutic target
- Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon