SCA2 ATXN2

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

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

Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.

Rong,Mao, Arthur S,Aylsworth, Nicholas,Potter, William G,Wilson, Galen,Breningstall, Myra J,Wick, Dusica,Babovic-Vuksanovic, Martha,Nance, Marc C,Patterson, Christopher M,Gomez, Karen,Snow

American journal of medical genetics · 2002-07-15

Homozygous 31 trinucleotide repeats in the SCA2 allele are pathogenic for cerebellar ataxia.

Maya,Tojima, Gaku,Murakami, Rie,Hikawa, Hodaka,Yamakado, Hirofumi,Yamashita, Ryosuke,Takahashi, Masaru,Matsui

Neurology. Genetics · 2018-10-16

Amyotrophic lateral sclerosis risk for spinocerebellar ataxia type 2 ATXN2 CAG repeat alleles: a meta-analysis.

Annalese G,Neuenschwander, Khanh K,Thai, Karla P,Figueroa, Stefan M,Pulst

JAMA neurology · 2014-12-01

Gijs H P,Tazelaar, Steven,Boeynaems, Mathias,De Decker, Joke J F A,van Vugt, Lindy,Kool, H Stephan,Goedee, Russell L,McLaughlin, William,Sproviero, Alfredo,Iacoangeli, Matthieu,Moisse, Maarten,Jacquemyn, Dirk,Daelemans, Annelot M,Dekker, Rick A,van der Spek, Henk-Jan,Westeneng, Kevin P,Kenna, Abdelilah,Assialioui, Nica,Da Silva, Mónica,Povedano, Jesus S Mora,Pardina, Orla,Hardiman, François,Salachas, Stéphanie,Millecamps, Patrick,Vourc'h, Philippe,Corcia, Philippe,Couratier, Karen E,Morrison, Pamela J,Shaw, Christopher E,Shaw, R Jeroen,Pasterkamp, John E,Landers, Ludo,Van Den Bosch, Wim,Robberecht, Ammar,Al-Chalabi, Leonard H,van den Berg, Philip,Van Damme, Jan H,Veldink, Michael A,van Es

Brain communications · 2020-05-19

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

K,Sanpei, H,Takano, S,Igarashi, T,Sato, M,Oyake, H,Sasaki, A,Wakisaka, K,Tashiro, Y,Ishida, T,Ikeuchi, R,Koide, M,Saito, A,Sato, T,Tanaka, S,Hanyu, Y,Takiyama, M,Nishizawa, N,Shimizu, Y,Nomura, M,Segawa, K,Iwabuchi, I,Eguchi, H,Tanaka, H,Takahashi, S,Tsuji

Nature genetics · 1996-11-01

The Role of D/H Isotope Exchange in Stabilizing Trinucleotide Repeat Expansions in the CAG Tract of the ATXN2 Gene.

A A,Dorohova, I M,Chernukha, L V,Fedulova, J L,Hernandez-Caceres, M I,Drobotenko, S S,Dzhimak

Doklady. Biochemistry and biophysics · 2026-03-30

Monitoring the Progression of Pre-Ataxic Gait in SCA2 with Inertial Sensors Over Four Years.

Luis,Velázquez-Pérez, Roberto,Rodríguez-Labrada, Yasmany,Gonzalez-Garcés, Frank J,Carrillo-Rodes, Julio C,Rodríguez-Díaz, Yaimeé,Vázquez-Mojena, Ulf,Ziemann, Georg,Auburger, Fay,Horak, Christopher,Gomez

Cerebellum (London, England) · 2026-03-25

Metformin improves RAN protein pathology, alternative splicing, and behavioral phenotypes in SCA8 mice.

Lisa El,Romano, Setsuki,Tsukagoshi, Emily E,Davey-Osuch, Ramadan,Ajredini, Kamat,Manasi, Tala Vr,Ortiz, Eduardo,Rijos, Nathan J,Bourgon, S Elaine,Ames, Timothy J,Garrett, John D,Cleary, Eric T,Wang, Laura Pw,Ranum

Life science alliance · 2026-03-02

Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALS.

Koen Cedric,Demaegd, Wouter,Koole, Joke Jfa,van Vugt, Jan Willem,Dankbaar, Jeroen,Hendrikse, A,Nazlı Başak, Mamede,de Carvalho, Philippe,Corcia, Philippe,Codron, Emilien,Bernard, Claire,Guissart, Philippe,Couratier, Mónica,Povedano Panades, Pieter A,van Doorn, Bart P,Warrenburg, Johnathan,Cooper-Knock, R Jeroen,Pasterkamp, Wouter,van Rheenen, Philip,van Damme, Leonard H,van den Berg, Jan Herman,Veldink, Michael A,van Es

BMJ neurology open · 2026-02-18

Mitochondrial DNA Haplogroups and Age at Onset of Spinocerebellar Ataxia Type 2: A Study in Indian Patients.

Akhilesh Kumar,Sonakar, Chhavi,Sharma, Shahrumi,Reza, Shivam,Pandey, M V Padma,Srivastava, Achal K,Srivastava, Mohammed,Faruq

Annals of Indian Academy of Neurology · 2026-02-16

Preimplantation Genetic Testing of Spinocerebellar Ataxia Type 2-Robust Tools for Direct and Indirect Detection of the ATXN2 CAG Repeat Expansion.

Nur,Asherah, Mulias,Lian, Arnold S,Tan, Riho,Taguchi, Pengyian,Chua, Shuling,Liu, Caroline G,Lee, Samuel S,Chong

International journal of molecular sciences · 2026-02-04

Expanding the Genetic Landscape of

Jacob,Saucier, Mohammad,Al-Qadi, Eric Pierre,Allain, Philippe-Pierre,Robichaud, Ludivine,Chamard-Witkowski, Mario,Alvarez, Anne-Marie,Dion-Côté, Luc,Richard, Nicolas,Crapoulet, Mouna,Ben Amor

Neurology. Genetics · 2026-02-02

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

The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis.

Joke J F A,van Vugt, Ramona A J,Zwamborn, Egor,Dolzhenko, Michael A,Eberle, Ben,Weisburd, Erwin,Bekema, Maarten,Kooyman, Bi-Nan,Wang, Erik-Jan,Kamsteeg, Monique,Losekoot, Frank,Baas, Camilla,Novy, Helle,Høyer, Ruben P A,van Eijk, Michael A,van Es, Wouter,van Rheenen, Ammar,Al-Chalabi, Leonard H,van den Berg, Jan H,Veldink

Brain communications · 2025-12-09