SCA1 ATXN1

Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred.

H Y,Zoghbi, M S,Pollack, L A,Lyons, R E,Ferrell, S P,Daiger, A L,Beaudet

Clinical features and natural history of spinocerebellar ataxia type 1.

H,Sasaki, T,Fukazawa, T,Yanagihara, T,Hamada, K,Shima, A,Matsumoto, K,Hashimoto, N,Ito, A,Wakisaka, K,Tashiro

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

Combined overexpression of ATXN1L and mutant ATXN1 knockdown by AAV rescue motor phenotypes and gene signatures in SCA1 mice.

Ellie M,Carrell, Megan S,Keiser, Ashley B,Robbins, Beverly L,Davidson

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

H T,Orr, M Y,Chung, S,Banfi, T J,Kwiatkowski, A,Servadio, A L,Beaudet, A E,McCall, L A,Duvick, L P,Ranum, H Y,Zoghbi

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

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

Identification and Copy Number Variant Analysis of Enhancer Regions of Genes Causing Spinocerebellar Ataxia.

Fatemeh,Ghorbani, Eddy N,de Boer, Michiel R,Fokkens, Jelkje,de Boer-Bergsma, Corien C,Verschuuren-Bemelmans, Elles,Wierenga, Hamidreza,Kasaei, Daan,Noordermeer, Dineke S,Verbeek, Helga,Westers, Cleo C,van Diemen

Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report.

Guillaume,Baille, Nicolas,Geoffre, Anna,Wissocq, Pauline,Planté-Bordeneuve, Eugénie,Mutez, Vincent,Huin

CAG repeat-selective compounds reduce abundance of expanded CAG RNAs in patient cell and murine models of SCAs.

Hannah K,Shorrock, Asmer,Aliyeva, Jesus A,Frias, Victoria A,DeMeo, Claudia D,Lennon, Cristina C,DeMeo, Amy K,Mascorro, Sharon,Shaughnessy, Hormoz,Mazdiyasni, John D,Cleary, Kaalak,Reddy, Sweta,Vangaveti, Damian S,Shin, J Andrew,Berglund

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

CAG repeat mosaicism is gene specific in spinocerebellar ataxias.

Radhia,Kacher, François-Xavier,Lejeune, Isabelle,David, Susana,Boluda, Giulia,Coarelli, Sabrina,Leclere-Turbant, Anna,Heinzmann, Cecilia,Marelli, Perrine,Charles, Cyril,Goizet, Nisha,Kabir, Rania,Hilab, Ludmila,Jornea, Julie,Six, Marc,Dommergues, Anne-Laure,Fauret, Alexis,Brice, Sandrine,Humbert, Alexandra,Durr

Camilla,Novy, Øyvind L,Busk, Ole-Bjørn,Tysnes, Sigve S,Landa, Tori N,Aanjesen, Karl B,Alstadhaug, Tale L,Bjerknes, Ingrid K,Bjørnå, Geir,Bråthen, Elin,Dahl, Natasha,Demic, Maria,Fahlström, Heidi Ø,Flemmen, Erika,Hallerstig, Ineke,HogenEsch, Margitta T,Kampman, Grethe,Kleveland, Helene B,Kvernmo, Unn,Ljøstad, Angelina,Maniaol, Aase Hagen,Morsund, Ola,Nakken, Cathrine G,Olsen, Katrin,Schlüter, May-Sissel,Utvik, Ryaz,Yaseen, Øystein L,Holla, Trygve,Holmøy, Helle,Høyer