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SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–pheno...

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SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–pheno...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_00607332v1

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations

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Full title

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations

Author / Creator

Millecamps, Stéphanie , Salachas, François , Cazeneuve, Cécile , Gordon, Paul , Bricka, Bernard , Camuzat, Agnès , Guillot-Noël, Léna , Russaouen, Odile , Bruneteau, Gaëlle , Pradat, Pierre-François , Le Forestier, Nadine , Vandenberghe, Nadia , Danel-Brunaud, Véronique , Guy, Nathalie , Thauvin-Robinet, Christel , Lacomblez, Lucette , Couratier, Philippe , Hannequin, Didier , Seilhean, Danielle , Le Ber, Isabelle , Corcia, Philippe , Camu, William , Brice, Alexis , Rouleau, Guy , LeGuern, Eric and Meininger, Vincent

Publisher

London: BMJ Publishing Group Ltd

Journal title

Journal of medical genetics, 2010-08, Vol.47 (8), p.554-560

Language

English

Formats

Articles

Publication information

Publisher

London: BMJ Publishing Group Ltd

Subjects

Subjects and topics

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Scope and Contents

Contents

BackgroundMutations in SOD1, ANG, VAPB, TARDBP and FUS genes have been identified in amyotrophic lateral sclerosis (ALS).MethodsThe relative contributions of the different mutations to ALS were estimated by systematically screening a cohort of 162 families enrolled in France and 500 controls (1000 chromosomes) using molecular analysis techniques an...

Alternative Titles

Full title

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations

Authors, Artists and Contributors

Author / Creator

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Primary Identifiers

Record Identifier

TN_cdi_hal_primary_oai_HAL_hal_00607332v1

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_00607332v1

Other Identifiers

ISSN

0022-2593

E-ISSN

1468-6244

DOI

10.1136/jmg.2010.077180

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