SCA7 ATXN7

Spinocerebellar Ataxia Type 7

Albert R.,La Spada

GeneReviews® · 1993-01-01

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

Neurology India · 2010-01-01

Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.

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

European journal of human genetics : EJHG · 2004-01-01

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

Cerebellum (London, England) · 2023-10-31

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

Science advances · 2022-03-04

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

Gwenn A,Garden, Albert R,La Spada

Cerebellum (London, England) · 2008-01-01

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

Genome research · 1996-10-01

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

Frontiers in molecular neuroscience · 2024-11-22

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

Journal of the neurological sciences · 2024-11-15

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

Science translational medicine · 2024-11-06

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

Cerebellum (London, England) · 2024-09-25

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

JCI insight · 2024-07-18

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

Brain communications · 2024-06-29

Progressive degeneration in a new Drosophila model of spinocerebellar ataxia type 7.

Alyson,Sujkowski, Bedri,Ranxhi, Zoya R,Bangash, Zachary M,Chbihi, Matthew V,Prifti, Zaina,Qadri, Nadir,Alam, Sokol V,Todi, Wei-Ling,Tsou

Scientific reports · 2024-06-21

Generation of human induced pluripotent stem cell lines (LUMCi051-A,B and LUMCi052-A,B,C) of two patients with Spinocerebellar ataxia type 7.

Linde F,Bouwman, Milou E M,Joosen, Ronald A M,Buijsen, Linda M,van der Graaf, Barry A,Pepers, Bas J B,Voesenek, Erwin,Brosens, Bart P C,van de Warrenburg, Willeke M C,van Roon-Mom

Stem cell research · 2024-06-04

AAV-Mediated CAG-Targeting Selectively Reduces Polyglutamine-Expanded Protein and Attenuates Disease Phenotypes in a Spinocerebellar Ataxia Mouse Model.

Anna,Niewiadomska-Cimicka, Lorraine,Fievet, Magdalena,Surdyka, Ewelina,Jesion, Céline,Keime, Elisabeth,Singer, Aurélie,Eisenmann, Zaneta,Kalinowska-Poska, Hoa Huu Phuc,Nguyen, Agnieszka,Fiszer, Maciej,Figiel, Yvon,Trottier

International journal of molecular sciences · 2024-04-15