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

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

Approach to Progressive Myoclonic Epilepsies: Clinical Clues for Genetic Testing.

Prasanthi,Aripirala, Sujit Abajirao,Jagtap

MRI-based brain structural changes in adult-onset dentatorubral-pallidoluysian atrophy.

Mengcheng,Li, Xinyuan,Chen, Ruying,Yuan, Shuping,Fan, Ziqiang,Huang, Zhenyi,Liu, Jiaqi,Weng, Qiaozhen,Zheng, Shirui,Gan, Jianping,Hu

The nuclear export signal mediates mutant atrophin-1-induced neuropathology in a mouse model of DRPLA.

Yideng,Liang, Bo,Ning, Xiaobo,Wang, Hannah,Fuehrer, Masayuki,Nakamura, Frederick C,Nucifora, Russell,Margolis, Christopher A,Ross, Wanli W,Smith

Natural History and Progression of Dentatorubral-Pallidoluysian Atrophy (DRPLA): A Retrospective Study of 22 Patients.

Hiroshi,Adachi, Katsuya,Nishida, Naonobu,Futamura

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.