DRPLA ATN1

Silvia,Prades, Claudio,Melo de Gusmao, Silvia,Grimaldi, Yael,Shiloh-Malawsky, Thomas,Felton, Henry,Houlden

Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy.

Severe infantile dentatorubral pallidoluysian atrophy with extreme expansion of CAG repeats.

Y,Shimojo, Y,Osawa, M,Fukumizu, S,Hanaoka, H,Tanaka, F,Ogata, M,Sasaki, K,Sugai

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

Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA).

S,Nagafuchi, H,Yanagisawa, E,Ohsaki, T,Shirayama, K,Tadokoro, T,Inoue, M,Yamada

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

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

Dentatorubral pallidoluysian atrophy with cognitive impairment, epilepsy, movement disorders, and psychosis - a case.

IRF2BPL-Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA.

Sunita,Venkateswaran, Jean,Michaud, Yoko,Ito, Michael,Geraghty, Evan C,Lewis, Benjamin,Ellezam, Kym M,Boycott, David A,Dyment, Kristin D,Kernohan

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

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

The relationship between the number of CAG repeats and clinical manifestations: a survey of Chinese DRPLA family.

Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes.

Jean-Loup,Méreaux, Claire-Sophie,Davoine, Marie,Coutelier, Léna,Guillot-Noël, Anna,Castrioto, Perrine,Charles, Giulia,Coarelli, Claire,Ewenczyk, Stephan,Klebe, Anna,Heinzmann, Aurélie,Méneret, Anne-Laure,Fauret-Amsellem, Jean-Madeleine,de Sainte Agathe, Alexis,Brice, Alexandra,Durr