Integrative genetic analysis illuminates ALS heritability and identifies risk genes
Integrative genetic analysis illuminates ALS heritability and identifies risk genes
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Author / Creator
Project Mine Als Sequencing Consortium , Megat, Salim , Mora, Natalia , Sanogo, Jason , Roman, Olga , Catanese, Alberto , Alami, Najwa Ouali , Freischmidt, Axel , Mingaj, Xhuljana , De Calbiac, Hortense , Muratet, François , Dirrig-Grosch, Sylvie , Dieterle, Stéphane , Van Bakel, Nick , Müller, Kathrin , Sieverding, Kirsten , Weishaupt, Jochen , Andersen, Peter Munch , Weber, Markus , Neuwirth, Christoph , Margelisch, Markus , Sommacal, Andreas , Van Eijk, Kristel R. , Veldink, Jan H. , Lautrette, Géraldine , Couratier, Philippe , Camuzat, Agnès , Le Ber, Isabelle , Grassano, Maurizio , Chio, Adriano , Boeckers, Tobias , Ludolph, Albert C. , Roselli, Francesco , Yilmazer-Hanke, Deniz , Millecamps, Stéphanie , Kabashi, Edor , Storkebaum, Erik , Sellier, Chantal and Dupuis, Luc
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
Amyotrophic lateral sclerosis (ALS) has substantial heritability, in part shared with fronto-temporal dementia (FTD). We show that ALS heritability is enriched in splicing variants and in binding sites of 6 RNA-binding proteins including TDP-43 and FUS. A transcriptome wide association study (TWAS) identified 6 loci associated with ALS, including i...
Alternative Titles
Full title
Integrative genetic analysis illuminates ALS heritability and identifies risk genes
Authors, Artists and Contributors
Author / Creator
Megat, Salim
Mora, Natalia
Sanogo, Jason
Roman, Olga
Catanese, Alberto
Alami, Najwa Ouali
Freischmidt, Axel
Mingaj, Xhuljana
De Calbiac, Hortense
Muratet, François
Dirrig-Grosch, Sylvie
Dieterle, Stéphane
Van Bakel, Nick
Müller, Kathrin
Sieverding, Kirsten
Weishaupt, Jochen
Andersen, Peter Munch
Weber, Markus
Neuwirth, Christoph
Margelisch, Markus
Sommacal, Andreas
Van Eijk, Kristel R.
Veldink, Jan H.
Lautrette, Géraldine
Couratier, Philippe
Camuzat, Agnès
Le Ber, Isabelle
Grassano, Maurizio
Chio, Adriano
Boeckers, Tobias
Ludolph, Albert C.
Roselli, Francesco
Yilmazer-Hanke, Deniz
Millecamps, Stéphanie
Kabashi, Edor
Storkebaum, Erik
Sellier, Chantal
Dupuis, Luc
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_6c41a4f4e8fe4f95afcbf96cee484c70
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_6c41a4f4e8fe4f95afcbf96cee484c70
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-022-35724-1
