SCA3 ATXN3

Ontology Lookup Service (OLS)

Influence of ATXN2 intermediate CAG repeats, 9bp duplication and alternative splicing on SCA3 pathogenesis.

Marilena,Lauerer, Jennifer,Faber, Nicolas,Casadei, Magda M,Santana, Georg,Auburger, Michaela,Pogoda, Jakob,Admard, Lea,Kaupp, Patricia Laura,Kos, Mafalda,Raposo, Manuela,Lima, Luis Pereira,de Almeida, Hector,Garcia-Moreno, Paola,Giunti, Jeroen,de Vries, Bart P,van de Warrenburg, Judith,van Gaalen, Marcus,Grobe-Einsler, Berkan,Koyak, Kathrin,Reetz, Friedrich,Erdlenbruch, Heike,Jacobi, Jon,Infante, Holger,Hengel, Ludger,Schöls, Thomas,Klockgether, Olaf,Rieß, Jeannette,Hübener-Schmid

Acta neuropathologica communications · 2025-07-19

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 · 2025-01-01

Spinocerebellar Ataxia Type 3

Henry,Paulson, Vikram,Shakkottai

GeneReviews® · 1993-01-01

Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits.

Clarissa,Rocca, David,Murphy, Chris,Clarkson, Matteo,Zanovello, Delia,Gagliardi, Queen Square,Genomics, Rauan,Kaiyrzhanov, Javeria,Alvi, Reza,Maroofian, Stephanie,Efthymiou, Tipu,Sultan, Jana,Vandrovcova, James,Polke, Robyn,Labrum, Henry,Houlden, Arianna,Tucci

Genes · 2025-01-28

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

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

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

Valosin-Containing Protein as a therapeutic target in CAG repeat-driven Spinocerebellar ataxias: Integrative transcriptomic and computational insights.

Surbhi,Singh, Deepika,Joshi, Janki,Makani, Suchitra,Singh, Janhavi,Yadav, Shraddha,Chaurasiya, Chandmayee,Mohanty, Anand,Kumar, Royana,Singh

Computational biology and chemistry · 2025-12-11

Sex- and Depression-specific Effects of Non-pathogenic CAG Repeats in

Linjun,Ao, Raymond,Noordam, N,Ahmad Aziz, Yuri,Milaneschi, Diana,van Heemst, Frits R,Rosendaal, Brenda W J H,Penninx, Ko Willems,van Dijk, Tamar,Sofer, Heming,Wang, Tariq,Faquih

medRxiv : the preprint server for health sciences · 2025-11-27

The genetic landscape of spinocerebellar ataxias in Taiwan: Insights from 876 genetically confirmed cases.

Shih-Chun,Lan, Cheng-Tsung,Hsiao, Kang-Yang,Jih, Yi-Chu,Liao, Yi-Chung,Lee

Parkinsonism & related disorders · 2025-10-12

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.

Fulya,Akçimen, Kimberly,Paquette, Peter,Wild Crea, Kathryn,Step, Emily,Waldo, Mathew J,Koretsky, Paula,Saffie-Awad, Charles,Achoru, Funmilola,Taiwo, Simon,Ozomma, Gerald,Onwuegbuzie, Marzieh,Khani, Spencer,Grant, Lukman,Owolabi, Chiamaka,Okereke, Olajumoke,Oshinaike, Emmanuel,Iwuozo, Suleyman,Can Akerman, Paul Suhwan,Lee, Shyngle,Oyakhire, Nosakhare,Osemwegie, Kensuke,Daida, Sani,Abubakar, Adedunni,Olusanya, Mariam,Isayan, Christiane,Alvarez, Rami,Traurig, Adebimpe,Ogunmodede, Sarah,Samuel, Mary B,Makarious, Fadimatu,Sa'ad, Rashidat,Olanigan, Kristin,Levine, Ewere Marie,Ogbimi, Dan,Vitale, Francis,Odiase, Francis,Ojini, Olanike,Odeniyi, Zih-Hua,Fang, Nkechi,Obianozie, Deborah A,Hall, Ernest,Nwazor, Tao,Xie, Francesca,Nwaokorie, Mahesh,Padmanaban, Paul,Nwani, Ejaz A,Shamim, Alero,Nnama, David,Standaert, Morenikeji,Komolafe, Marissa,Dean, Godwin,Osaigbovo, Elizabeth,Disbrow, Ismaila,Ishola, Ashley,Rawls, Frank,Imarhiagbe, Shivika,Chandra, Cyril,Erameh, Vanessa,Hinson, Naomi,Louie, Ahmed,Idowu, J,Solle, Scott A,Norris, Abdullahi,Ibrahim, Camilla,Kilbane, Gauthaman,Sukumar, Lisa M,Shulman, Daniel,Ezuduemoih, Julia,Staisch, Sarah,Breaux, Clifton,Dalgard, Erin R,Foster, Abiodun,Bello, Andrew,Ameri, Raquel,Real, Erica,Ikwenu, Huw R,Morris, Roosevelt,Anyanwu, Erin,Furr Stimming, Kimberley,Billingsley, Wemimo,Alaofin, Pilar,Alvarez Jerez, Osigwe,Agabi, Dena G,Hernandez, Rufus,Akinyemi, Sampath,Arepalli, Laksh,Malik, Raymond,Owolabi, Yakub,Nyandaiti, Hampton L,Leonard, Kolawole,Wahab, Oladunni,Abiodun, Carlos F,Hernandez, Fatima,Abdulai, Hirotaka,Iwaki, Soraya,Bardien, Christine,Klein, John,Hardy, Henry,Houlden, Kamalini Ghosh,Galvelis, Mike A,Nalls, Nabila,Dahodwala, Whitley,Aamodt, Emily,Hill, Alberto,Espay, Stewart,Factor, Chantale,Branson, Cornelis,Blauwendraat, Andrew B,Singleton, Oluwadamilola,Ojo, Lana M,Chahine, Njideka,Okubadejo, Sara,Bandres-Ciga

Brain : a journal of neurology · 2025-10-08

Repeat Variants, Biomarkers, and Molecular Signatures in Parkinson's Disease:

Jose Miguel,Laffita-Mesa, Martin,Paucar, Per,Svenningsson

International journal of molecular sciences · 2025-09-20

Spinocerebellar ataxias masquerading as movement disorders: clinical and genetic characterization.

Shanshan,Wei, Zhe,Zhao, Nan,Li, Xuan,Guo, Jiannan,Chen, Jing,Hu

Frontiers in neurology · 2025-09-10

Ocular Motor and Vestibular Profile in Spinocerebellar Ataxia Type 27B: Toward a Practical Bedside Diagnostic Framework.

Leonardo Eleuterio,Ariello, Daniel R,Gold, Weiyi,Mu, Michael C,Schubert, Claire,Allen, Ashley,Paul, David P W,Rastall

Cerebellum (London, England) · 2025-09-04

The Case of Spinocerebellar Ataxias in Amazonas (Northern Brazil): An Analysis of Disease Frequency from a Geographic, Historical, and Genetic-Evolutionary Perspective.

Diana Vieira,Brito, Marcus Vinicius,Della Coletta, Giselle Benevides Monteiro,Ferreira, Sabrina Rodrigues,da Silva, Patricia Batista de,Azevedo, Cleiton,Fantin

Cerebellum (London, England) · 2025-09-03

Long-read sequencing identifies ATXN3 repeat expansions, and transcriptomics reveals disease progression biomarkers and druggable targets for spinocerebellar ataxia type 3.

Chang,Liu, Xin,Wang, Chao,Xu, Xiaoxiang,Liu, Liyan,Ke, Ying,Li, Hang,Zhang, Jianqiang,Tan, Senwei,Tan, Zitong,Zhang, Liang,Cheng, Yaqiong,Ren, Lei,Shi

BMC neurology · 2025-09-01