Spinocerebellar ataxia type 8 presents as progressive supranuclear palsy
L Jiang, W Zhu, G Zhao, L Cao - Neurosciences Journal, 2023 - nsj.org.sa
Spinocerebellar ataxia type 8 is a progressive neurodegenerative disease induced by
expansion of CTA/CTG repeats in an untranslated region of the ATXN8/ATXN8OS gene. We …
expansion of CTA/CTG repeats in an untranslated region of the ATXN8/ATXN8OS gene. We …
PSP-phenotype in SCA8: case report and systemic review
M Samukawa, M Hirano, K Saigoh, S Kawai… - The Cerebellum, 2019 - Springer
Abstract Spinocerebellar ataxia type 8 (SCA8) is a rare autosomal dominant
neurodegenerative disease caused by expanded CTA/CTG repeats in the ATXN8OS gene …
neurodegenerative disease caused by expanded CTA/CTG repeats in the ATXN8OS gene …
Genetic and clinical analyses of spinocerebellar ataxia type 8 in mainland China
Y Zhou, Y Yuan, Z Liu, S Zeng, Z Chen, L Shen… - Journal of …, 2019 - Springer
Background Spinocerebellar ataxia type 8 (SCA8) is a rare autosomal dominant
neurodegenerative disease caused by CTA/CTG repeat expansion in the ATXN8/ATXN8OS …
neurodegenerative disease caused by CTA/CTG repeat expansion in the ATXN8/ATXN8OS …
Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3
QF Li, HL Cheng, L Yang, Y Ma, JJ Zhao… - … Genetics & Genomic …, 2020 - Wiley Online Library
Background Homozygous spinocerebellar ataxia type 3 (SCA3) patients, which have an
expanded cytosine‐adenine‐guanine (CAG) repeat mutation in both alleles of ATXN3, are …
expanded cytosine‐adenine‐guanine (CAG) repeat mutation in both alleles of ATXN3, are …
Chinese abnormal compound heterozygote spinocerebellar ataxia type 8: a case report
S Guo, H Zhong, B Zhao, D Yang, Z Meng, B Ying… - Neurological …, 2022 - Springer
Abstract Case reports An elderly Chinese male patient was diagnosed with compound
heterozygous spinocerebellar ataxia type 8; molecular diagnosis found that the (CTA) n …
heterozygous spinocerebellar ataxia type 8; molecular diagnosis found that the (CTA) n …
Amyotrophic lateral sclerosis associated with a pathological expansion in the ATXN7 gene
F Cluse, E Bernard, I Strubi-Vuillaume… - … Lateral Sclerosis and …, 2022 - Taylor & Francis
Abstract Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant hereditary
neurodegenerative disease caused by the expansion of a CAG-repeat in the ataxin-7 …
neurodegenerative disease caused by the expansion of a CAG-repeat in the ataxin-7 …
Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil
TC Gheno, GV Furtado, JAM Saute… - European Journal of …, 2017 - Wiley Online Library
Background and purpose Spinocerebellar ataxia type 10 is a neurodegenerative disorder
that is due to an expanded ATTCT repeat tract in the ATXN 10 gene. Our aim was to …
that is due to an expanded ATTCT repeat tract in the ATXN 10 gene. Our aim was to …
Homozygous spinocerebellar ataxia type 3 in China: a case report
Y Chen, D Li, M Wei, M Zhou, L Zhang… - Journal of …, 2021 - journals.sagepub.com
Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease caused by a
heterozygous CAG repeat expansion in the ataxin 3 gene (ATXN3). However, patients with …
heterozygous CAG repeat expansion in the ataxin 3 gene (ATXN3). However, patients with …
Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 in a family with full CAG repeat expansions of ATXN2
S Tazen, K Figueroa, JY Kwan, J Goldman… - JAMA …, 2013 - jamanetwork.com
Importance A family with coexistence of spinocerebellar ataxia type 2 and amyotrophic
lateral sclerosis (ALS) is described. Observations Intermediate or full CAG repeat …
lateral sclerosis (ALS) is described. Observations Intermediate or full CAG repeat …
60 Impact of Reducing the Nuclear Mutant ATXN1 on Spinocerebellar Ataxia-Like Phenotype
KB Mather, LA Duvick, HP Handler… - Journal of the International …, 2023 - cambridge.org
Objective: Spinocerebellar ataxia type one (SCA1) is an autosomal dominant
neurodegenerative disease caused by an expanded CAG repeat that encodes glutamine …
neurodegenerative disease caused by an expanded CAG repeat that encodes glutamine …