SCA3 ATXN3

Ontology Lookup Service (OLS)

Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes.

Haibao,Tang, Ewen F,Kirkness, Christoph,Lippert, William H,Biggs, Martin,Fabani, Ernesto,Guzman, Smriti,Ramakrishnan, Victor,Lavrenko, Boyko,Kakaradov, Claire,Hou, Barry,Hicks, David,Heckerman, Franz J,Och, C Thomas,Caskey, J Craig,Venter, Amalio,Telenti

American journal of human genetics · 2017-11-02

Spinocerebellar Ataxia

Jenish,Bhandari, Pawan K.,Thada, Debopam,Samanta

StatPearls · 2024-01-01

Mitochondrial DNA haplogroups and age at onset of Machado-Joseph disease/spinocerebellar ataxia type 3: a study in patients from multiple populations.

A,Ramos, M,Planchat, A R,Vieira Melo, M,Raposo, U,Shamim, V,Suroliya, A K,Srivastava, M,Faruq, H,Morino, R,Ohsawa, H,Kawakami, L,Bannach Jardim, M L,Saraiva-Pereira, J,Vasconcelos, C,Santos, M,Lima

European journal of neurology · 2018-12-07

The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes.

Elena,Capacci, Silvia,Bagnoli, Giulia,Giacomucci, Costanza Maria,Rapillo, Alessandra,Govoni, Valentina,Bessi, Cristina,Polito, Irene,Giotti, Alice,Brogi, Elisabetta,Pelo, Sandro,Sorbi, Benedetta,Nacmias, Camilla,Ferrari

Cerebellum (London, England) · 2023-10-31

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.

Igor,Stevanovski, Sanjog R,Chintalaphani, Hasindu,Gamaarachchi, James M,Ferguson, Sandy S,Pineda, Carolin K,Scriba, Michel,Tchan, Victor,Fung, Karl,Ng, Andrea,Cortese, Henry,Houlden, Carol,Dobson-Stone, Lauren,Fitzpatrick, Glenda,Halliday, Gianina,Ravenscroft, Mark R,Davis, Nigel G,Laing, Avi,Fellner, Marina,Kennerson, Kishore R,Kumar, Ira W,Deveson

Science advances · 2022-03-04

Clinical and neuroimaging review of triplet repeat diseases.

Ryo,Kurokawa, Mariko,Kurokawa, Akihiko,Mitsutake, Moto,Nakaya, Akira,Baba, Yasuhiro,Nakata, Toshio,Moritani, Osamu,Abe

Japanese journal of radiology · 2022-09-28

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.

Y,Kawaguchi, T,Okamoto, M,Taniwaki, M,Aizawa, M,Inoue, S,Katayama, H,Kawakami, S,Nakamura, M,Nishimura, I,Akiguchi

Nature genetics · 1994-11-01

Apolipoprotein E epsilon4 allele is associated with better performance language and visual memory in spinocerebellar ataxia type 3.

Xuanyu,Chen, Kunxin,Lin, Zhixian,Ye, Liangliang,Qiu, Yusen,Qiu, Ruying,Yuan, Xintong,Yu, Chunyu,Huang, Bi,Cheng, Wei,Lin, Tianmin,Lai, Wanjin,Chen, Ning,Wang, Shirui,Gan, Qiuni,Su, Ying,Fu

European journal of neurology · 2025-01-01

Genetic Analysis of GCA Repeats in the GLS Gene: Implications for Undiagnosed Ataxia and Spinocerebellar Ataxia 3 in Mainland China.

Lijing,Lei, Linliu,Peng, Linlin,Wan, Zhao,Chen, Chunrong,Wang, Huirong,Peng, Rong,Qiu, Beisha,Tang, Hong,Jiang

Movement disorders : official journal of the Movement Disorder Society · 2024-12-19

Screening for SCA27B, CANVAS and other repeat expansion disorders in Greek patients with late-onset cerebellar ataxia suggests a need to update current diagnostic algorithms.

Georgios,Koutsis, Chrisoula,Kartanou, Zoi,Kontogeorgiou, Chrysoula,Koniari, Alexandros,Mitrousias, David,Pellerin, Marie-Jose,Dicaire, Pablo,Iruzubieta, Matt C,Danzi, Konstantinos,Athanassopoulos, Nikolaos,Ragazos, Maria,Stamelou, Michail,Rentzos, Evangelos,Anagnostou, Stephan,Zuchner, Bernard,Brais, Henry,Houlden, Marios,Panas, Leonidas,Stefanis, Georgia,Karadima

Journal of the neurological sciences · 2024-11-15

Split hand and minipolymyoclonus in spinocerebellar ataxia type 3: a case report.

Anli,Eki, Atsuhiko,Sugiyama, Kazumoto,Shibuya, Yuki,Nakagawa, Takayuki,Ishige, Tomoki,Suichi, Ryo,Otani, Satoshi,Kuwabara

BMC neurology · 2024-11-09

Identification and Copy Number Variant Analysis of Enhancer Regions of Genes Causing Spinocerebellar Ataxia.

Fatemeh,Ghorbani, Eddy N,de Boer, Michiel R,Fokkens, Jelkje,de Boer-Bergsma, Corien C,Verschuuren-Bemelmans, Elles,Wierenga, Hamidreza,Kasaei, Daan,Noordermeer, Dineke S,Verbeek, Helga,Westers, Cleo C,van Diemen

International journal of molecular sciences · 2024-10-18

Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease.

Ahmed M,Sidky, Ana Rosa Vieira,Melo, Teresa T,Kay, Mafalda,Raposo, Manuela,Lima, Darren G,Monckton

Human genetics · 2024-10-08

Spinocerebellar Ataxia in Brazil: A Comprehensive Genotype - Phenotype Analysis.

Maria Carolina Da,Cunha Ganimi, Christian Marques,Couto, Alessandra de,La Rocque Ferreira, Carmen Lucia,Antão Paiva

Cerebellum (London, England) · 2024-09-25

Fructose-2,6-bisphosphate restores DNA repair activity of PNKP and ameliorates neurodegenerative symptoms in Huntington's disease.

Anirban,Chakraborty, Sravan Gopalkrishnashetty,Sreenivasmurthy, Wyatt,Miller, Weihan,Huai, Tapan,Biswas, Santi Mohan,Mandal, Lisardo,Boscá, Balaji,Krishnan, Gourisankar,Ghosh, Tapas,Hazra

Proceedings of the National Academy of Sciences of the United States of America · 2024-09-19

NMR structures and magnetic force spectroscopy studies of small molecules binding to models of an RNA CAG repeat expansion.

Amirhossein,Taghavi, Jonathan L,Chen, Zhen,Wang, Krishshanthi,Sinnadurai, David,Salthouse, Matthew,Ozon, Adeline,Feri, Matthew A,Fountain, Shruti,Choudhary, Jessica L,Childs-Disney, Matthew D,Disney

bioRxiv : the preprint server for biology · 2024-08-21