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

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

Choroid plexus enlargement correlated with motor dysfunction in spinocerebellar ataxia type 3.

Zhiming,Zhen, Peiling,Ou, Yonghua,Huang, Lihua,Deng, Yue,Chen, He,Liu, Yanqiu,Hua, Wei,Chen, Huafu,Chen, Peiyu,Huang, Zhentao,Zuo, Chen,Liu

Circadian rhythms are disrupted in patients and preclinical models of Machado-Joseph disease.

Rodrigo F N,Ribeiro, Dina,Pereira, Sara M,Lopes, Tiago,Reis, Patrick,Silva, Diana D,Lobo, Laetitia S,Gaspar, João,Durães, Ana Rita,Fernandes, Marisa,Ferreira-Marques, Catarina,Carvalhas-Almeida, João,Peça, Ana Rita,Álvaro, Isabel,Santana, Magda M,Santana, Maria Manuel C,Silva, Luís,Pereira de Almeida, Cláudia,Cavadas

Clinical and genetic analysis of a case series of 12 Chinese families with hereditary ataxia.

Liqi,Guo, Fangrui,Wu, Yuxi,Wang, Xiaoping,Xiong, Min,Zhong

Feasibility of repetitive transcranial magnetic stimulation on non-motor symptoms of spinocerebellar ataxia type 3: a secondary analysis of a randomized clinical trial.

Hua,Wu, Hao-Ling,Xu, Xia-Hua,Liu, Arif,Sikandar, Wei,Lin, Mao-Lin,Cui, Ming-Xia,Kang, Yi-Ru,Zheng, Shi-Rui,Gan, Liang-Liang,Qiu

Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.

Wai Yan,Yau, Roisin,Sullivan, Emer,O'Connor, David,Pellerin, Michael H,Parkinson, Paola,Giunti, Marie-Josée,Dicaire, Matt C,Danzi, Stephan,Züchner, Bernard,Brais, Nicholas W,Wood, Henry,Houlden, Jana,Vandrovcova

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