SCA6 CACNA1A

Hannah L.,Casey, Christopher M.,Gomez

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

Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics.

Shinsuke,Fujioka, Christina,Sundal, Zbigniew K,Wszolek

Redefining the Pathogenic CAG Repeat Units Threshold in <i>CACNA1A</i> for Spinocerebellar Ataxia Type 6

Yuya,Hatano, Tomohiko,Ishihara, Sachiko,Hirokawa, Hidetoshi,Date, Yuji,Takahashi, Hidehiro,Mizusawa, Osamu,Onodera

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.

O,Zhuchenko, J,Bailey, P,Bonnen, T,Ashizawa, D W,Stockton, C,Amos, W B,Dobyns, S H,Subramony, H Y,Zoghbi, C C,Lee

Homozygous CAG Repeat Expansion in Spinocerebellar Ataxia Type 6: Longitudinal Analysis of Vestibulo-Ocular Reflex Findings.

Jae-Myung,Kim, Tai-Seung,Nam, Jae-Hwan,Choi, Seung-Han,Lee

Diagnosis of hereditary ataxias: a real-world single center experience.

Adriana,Meli, Vincenzo,Montano, Giovanni,Palermo, Antonella,Fogli, Anna,Rocchi, Annalisa Lo,Gerfo, Rossella,Maltomini, Ludovica,Cori, Antonio,Siniscalchi, Clara,Bernardini, Giulia,Cecchi, Gabriele,Siciliano, Roberto,Ceravolo, Maria Adelaide,Caligo, Michelangelo,Mancuso, Piervito,Lopriore

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

Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis.

Xu-Ying,Li, Hong,Lai, Xian,Li, Fanxi,Xu, Yang,Song, Zhanjun,Wang, Qibin,Li, Ruichai,Lin, Zhiheng,Xu, Chaodong,Wang

Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms.

João,Moura, Jorge,Oliveira, Mariana,Santos, Sara,Costa, Lénia,Silva, Carolina,Lemos, José,Barros, Jorge,Sequeiros, Joana,Damásio

Tremor-associated short tandem repeat intermediate and pathogenic expansions in familial essential tremor.

Xun,Zhou, Runcheng,He, Sheng,Zeng, Mingqiang,Li, Hongxu,Pan, Yuwen,Zhao, Zhenhua,Liu, Qian,Xu, Jifeng,Guo, Xinxiang,Yan, Jinchen,Li, Beisha,Tang, Qiying,Sun

Early-onset familial essential tremor is associated with nucleotide expansions of spinocerebellar ataxia in China.

Zhilin,Zheng, Zeyu,Zhu, Jiali,Pu, Chen,Zhou, Lanxiao,Cao, Dayao,Lv, Jinyu,Lu, Gaohua,Zhao, Yanxing,Chen, Jun,Tian, Xinzhen,Yin, Baorong,Zhang, Yaping,Yan, Guohua,Zhao

The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias.

Louisa P,Selvadurai, Susan L,Perlman, Tetsuo,Ashizawa, George R,Wilmot, Chiadi U,Onyike, Liana S,Rosenthal, Vikram G,Shakkottai, Henry L,Paulson, Sub H,Subramony, Khalaf O,Bushara, Sheng-Han,Kuo, Cameron,Dietiker, Michael D,Geschwind, Alexandra B,Nelson, Christopher M,Gomez, Puneet,Opal, Theresa A,Zesiewicz, Trevor,Hawkins, Talene A,Yacoubian, Peggy C,Nopoulos, Sharon J,Sha, Peter E,Morrison, Karla P,Figueroa, Stefan M,Pulst, Jeremy D,Schmahmann

Incidence of different pressure patterns of spinal cerebellar ataxia and analysis of imaging and genetic diagnosis.

Yufen,Peng, Qi,Tu, Yao,Han, Liang,Gao, Chenyi,Wan