SCA3 ATXN3

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

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

Henry,Paulson, Vikram,Shakkottai

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

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

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

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

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

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

Clinical and neuroimaging review of triplet repeat diseases.

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

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

Accurate Quantification of Mutant and Wild-Type polyQ Proteins Using Simple Western Capillary Immunoassays.

Bas,Röttgering, Janwillem,Testerink, Rudie,Weij, Chantal,Beekman, Nicole,Datson

Genome editing in spinocerebellar ataxia type 3 cells improves Golgi apparatus structure.

Yanlin,Wang, Yunan,Cheng, Huifang,Sun, Zhuoya,Wang, Na,Chen, Changhe,Shi, Han,Liu, Jing,Yang, Yuming,Xu

Fatigue in the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 3.

Zhi-Li,Chen, Li-Mei,Xiao, Chun,Li, Liang-Liang,Qiu, Wei,Lin, Zhi-Xian,Ye, Yuan-Yuan,Zhang, Zhi-Bao,Zhu, Meng-Cheng,Li, Min-Ting,Lin, Wan-Jin,Chen, Ning,Wang, Ying,Fu, Shi-Rui,Gan

Whole Genome Sequencing-Based Diagnosis of Spinocerebellar Ataxia Type 3 Repeat Expansion Neuromuscular Disorders in an Undiagnosed Patient: Breaking Past Diagnostic Boundaries.

Hari Shankar,Kumar, Nidhi,Shah, Parth,Shah, Udhaya,Kotecha, Mehul,Mistri, Bushra,Jarullah

Generation of an induced pluripotent stem cell (iPSC) line (INNDSUi008-A) from a patient with Spinocerebellar Ataxia Type 3.

Bo,Li, Yingxin,Wang, Yitong,Yang, Didi,Shan, Jianing,Li, Hongxu,Wang, Xiaohan,Sun, Zexin,Zhan, Xinbo,Ji, Yao,Tang, Yichang,Jiao, Bo,Kong, Bo,Gao, Ping,Sun, Fuchen,Liu, Yu,Wang

Effects of trace element dysregulation on brain structure and function in spinocerebellar Ataxia type 3.

LiHua,Deng, Liu,Feng, JingWen,Li, YongHua,Huang, PeiLing,Ou, LinFeng,Shi, Hui,Chen, YuHan,Zhang, LiMeng,Dai, Yuan,He, Chen,Wei, HuaFu,Chen, Jian,Wang, Leinian,Li, Chen,Liu

ATXN10 Gene Expansions in Mexican Patients with Ataxia Without Epilepsy.

Aurelio,Jara-Prado, Eukeni,Arias-Capistran, Jorge,Guerrero-Camacho, Adriana,Ochoa-Morales, Marie Catherine,Boll, David,Dávila-Ortíz de Montellano, Astrid,Rasmussen, Tetsuo,Ashizawa, Juan,Fernandez-Ruiz, Petra,Yescas-Gómez, Miguel Ángel,Ramírez-García

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

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