Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
About this item
Full title
Author / Creator
Pellerin, David , Danzi, Matt C. , Wilke, Carlo , Renaud, Mathilde , Fazal, Sarah , Dicaire, Marie-Josée , Scriba, Carolin K. , Ashton, Catherine , Yanick, Christopher , Beijer, Danique , Rebelo, Adriana , Rocca, Clarissa , Jaunmuktane, Zane , Sonnen, Joshua A. , Larivière, Roxanne , Genís, David , Molina Porcel, Laura , Choquet, Karine , Sakalla, Rawan , Provost, Sylvie , Robertson, Rebecca , Allard-Chamard, Xavier , Tétreault, Martine , Reiling, Sarah J. , Nagy, Sara , Nishadham, Vikas , Purushottam, Meera , Vengalil, Seena , Bardhan, Mainak , Nalini, Atchayaram , Chen, Zhongbo , Mathieu, Jean , Massie, Rami , Chalk, Colin H. , Lafontaine, Anne-Louise , Evoy, François , Rioux, Marie-France , Ragoussis, Jiannis , Boycott, Kym M. , Dubé, Marie-Pierre , Duquette, Antoine , Houlden, Henry , Ravenscroft, Gianina , Laing, Nigel G. , Lamont, Phillipa J. , Saporta, Mario A. , Schüle, Rebecca , Schöls, Ludger , La Piana, Roberta , Synofzik, Matthis , Zuchner, Stephan and Brais, Bernard
Publisher
United States: Massachusetts Medical Society
Journal title
Language
English
Formats
Publication information
Publisher
United States: Massachusetts Medical Society
Subjects
More information
Scope and Contents
Contents
In this study, a large repeat expansion in a noncoding part of
FGF14
was found to cause late-onset cerebellar ataxia, which underscores the importance of noncoding regions in the search for causes of disease.
Alternative Titles
Full title
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
Authors, Artists and Contributors
Author / Creator
Danzi, Matt C.
Wilke, Carlo
Renaud, Mathilde
Fazal, Sarah
Dicaire, Marie-Josée
Scriba, Carolin K.
Ashton, Catherine
Yanick, Christopher
Beijer, Danique
Rebelo, Adriana
Rocca, Clarissa
Jaunmuktane, Zane
Sonnen, Joshua A.
Larivière, Roxanne
Genís, David
Molina Porcel, Laura
Choquet, Karine
Sakalla, Rawan
Provost, Sylvie
Robertson, Rebecca
Allard-Chamard, Xavier
Tétreault, Martine
Reiling, Sarah J.
Nagy, Sara
Nishadham, Vikas
Purushottam, Meera
Vengalil, Seena
Bardhan, Mainak
Nalini, Atchayaram
Chen, Zhongbo
Mathieu, Jean
Massie, Rami
Chalk, Colin H.
Lafontaine, Anne-Louise
Evoy, François
Rioux, Marie-France
Ragoussis, Jiannis
Boycott, Kym M.
Dubé, Marie-Pierre
Duquette, Antoine
Houlden, Henry
Ravenscroft, Gianina
Laing, Nigel G.
Lamont, Phillipa J.
Saporta, Mario A.
Schüle, Rebecca
Schöls, Ludger
La Piana, Roberta
Synofzik, Matthis
Zuchner, Stephan
Brais, Bernard
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10042577
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10042577
Other Identifiers
ISSN
0028-4793
E-ISSN
1533-4406
DOI
10.1056/NEJMoa2207406
