SCA7 ATXN7

Clinical and genetic study of a Chinese family with spinocerebellar ataxia type 7.

Yan,Han, Benqiang,Deng, Mingyuan,Liu, Jianming,Jiang, Shuai,Wu, Yangtai,Guan

Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.

A,Michalik, J-J,Martin, C,Van Broeckhoven

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

Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration.

Gwenn A,Garden, Albert R,La Spada

An expanded CAG repeat sequence in spinocerebellar ataxia type 7.

K,Lindblad, M L,Savontaus, G,Stevanin, M,Holmberg, K,Digre, C,Zander, H,Ehrsson, G,David, A,Benomar, E,Nikoskelainen, Y,Trottier, G,Holmgren, L J,Ptacek, A,Anttinen, A,Brice, M,Schalling

The Case of Spinocerebellar Ataxias in Amazonas (Northern Brazil): An Analysis of Disease Frequency from a Geographic, Historical, and Genetic-Evolutionary Perspective.

Diana Vieira,Brito, Marcus Vinicius,Della Coletta, Giselle Benevides Monteiro,Ferreira, Sabrina Rodrigues,da Silva, Patricia Batista de,Azevedo, Cleiton,Fantin

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

A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort.

Sarah,Fazal, Harriet,Dashnow, Maike F,Dohrn, Jacquelyn,Raposo, Laurel,Hiatt, Matt C,Danzi, Isaac R L,Xu, Camilo,Toro, David R,Adams, Karen,Usdin, Bruce,Hayward, Shilpa Nadimpalli,Kobren, Shamil R,Sunyaev, Rebecca C,Spillmann, Vandana,Shashi, Adriana,Rebelo, Guney,Bademci, Mustafa,Tekin, Aaron R,Quinlan, Stephan,Zuchner

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

Increased nuclear import characterizes aberrant nucleocytoplasmic transport in neurons from patients with spinocerebellar ataxia type 7.

Joshua G,Macopson-Jones, Maile,Adams, Julien,Philippe, Albert R,La Spada

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

Dysregulation of zebrin-II cell subtypes in the cerebellum is a shared feature across polyglutamine ataxia mouse models and patients.

Luke C,Bartelt, Pawel M,Switonski, Grażyna,Adamek, Fabiana,Longo, Juliana,Carvalho, Lisa A,Duvick, Sabrina I,Jarrah, Hayley S,McLoughlin, Daniel R,Scoles, Stefan M,Pulst, Harry T,Orr, Court,Hull, Craig B,Lowe, Albert R,La Spada

Spinocerebellar Ataxia in Brazil: A Comprehensive Genotype - Phenotype Analysis.

Maria Carolina Da,Cunha Ganimi, Christian Marques,Couto, Alessandra de,La Rocque Ferreira, Carmen Lucia,Antão Paiva

Respiratory neuropathology in spinocerebellar ataxia type 7.

Debolina D,Biswas, Yihan,Shi, Léa,El Haddad, Ronit,Sethi, Meredith,Huston, Sean,Kehoe, Evelyn R,Scarrow, Laura M,Strickland, Logan A,Pucci, Justin S,Dhindsa, Ani,Hunanyan, Albert R,La Spada, Mai K,ElMallah