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Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia

Crossref DOI link: https://doi.org/10.1038/ng.3676

Published Online: 2016-10-03

Published Print: 2016-11

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

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Broix, Loïc

Jagline, Hélène

L Ivanova, Ekaterina

Schmucker, Stéphane

Drouot, Nathalie

Clayton-Smith, Jill

Pagnamenta, Alistair T

Metcalfe, Kay A

Isidor, Bertrand

Louvier, Ulrike Walther

Poduri, Annapurna

Taylor, Jenny C https://orcid.org/0000-0003-3602-5704
Tilly, Peggy

Poirier, Karine

Saillour, Yoann

Lebrun, Nicolas

Stemmelen, Tristan

Rudolf, Gabrielle

Muraca, Giuseppe

Saintpierre, Benjamin

Elmorjani, Adrienne

Moïse, Martin

Weirauch, Nathalie Bednarek

Guerrini, Renzo

Boland, Anne

Olaso, Robert

Masson, Cecile

Tripathy, Ratna

Keays, David

Beldjord, Cherif

Nguyen, Laurent

Godin, Juliette

Kini, Usha

Nischké, Patrick https://orcid.org/0000-0002-2094-3298
Deleuze, Jean-François

Bahi-Buisson, Nadia

Sumara, Izabela

Hinckelmann, Maria-Victoria

Chelly, Jamel
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Article History

Received: 1 April 2016

Accepted: 24 August 2016

First Online: 3 October 2016

Competing interests

: The authors declare no competing financial interests.