Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia - Archive ouverte HAL Access content directly
Journal Articles Nature Genetics Year : 2016

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

Loic Broix
  • Function : Author
Hélène Jagline
  • Function : Author
Ekaterina L Ivanova
  • Function : Author
Ulrike Walther Louvier
  • Function : Author
Annapurna Poduri
  • Function : Author
Karine Poirier
  • Function : Author
Yoann Saillour
  • Function : Author
Nicolas Lebrun
  • Function : Author
Tristan Stemmelen
  • Function : Author
Benjamin Saintpierre
  • Function : Author
Martin Moïse
  • Function : Author
Nathalie Bednarek Weirauch
Anne Boland
Robert Olaso
Ratna Tripathy
  • Function : Author
David Keays
  • Function : Author
Cherif Beldjord
  • Function : Author
Laurent Nguyen
Juliette Godin
Patrick Nischké
  • Function : Author
Jean-François Deleuze
  • Function : Author
  • PersonId : 1015006
Izabela Sumara
Maria-Victoria Hinckelmann
  • Function : Author
Jamel Chelly
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Dates and versions

hal-02371039 , version 1 (19-11-2019)

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Loic Broix, Hélène Jagline, Ekaterina L Ivanova, Stéphane Schmucker, Nathalie Drouot, et al.. Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia. Nature Genetics, 2016, 48 (11), pp.1349-1358. ⟨10.1038/ng.3676⟩. ⟨hal-02371039⟩
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