Nicolas Charlet-Berguerand

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 7

Top Venues

Nature genetics

The EMBO journal

Human mutation

Inserm

Université Paris Diderot (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Inserm

France

DR2

IGBMC

France

Group leader / PI :: Translational medecine

Education History

Université Paris Diderot

France

PHD

Publications

Nicolas Charlet-Berguerand
An unexpected polyglycine route to spinocerebellar ataxia. Nature genetics 56 (6) (2024)
Nicolas Charlet-Berguerand
An unexpected polyglycine route to spinocerebellar ataxia. Nature genetics 56 (6) (2024)
Nicolas Charlet-Berguerand
An unexpected polyglycine route to spinocerebellar ataxia. Nature genetics (2024)
Nicolas Charlet-Berguerand
An unexpected polyglycine route to spinocerebellar ataxia. Nature genetics 56 (6) (2024)
Marcello Scala, Nathalie Drouot, Suzanna C MacLennan, Marja W Wessels, Magdalena Krygier, Lisa Pavinato, Aida Telegrafi, Stella A de Man, Marjon van Slegtenhorst, Michele Iacomino, Francesca Madia, Paolo Scudieri, Paolo Uva, Thea Giacomini, Giulia Nobile, Maria Margherita Mancardi, Ganna Balagura, Giovanni Battista Galloni, Alberto Verrotti, Muhammad Umair, Amjad Khan, Jan Liebelt, Miriam Schmidts, Thorsten Langer, Alfredo Brusco, Beata S Lipska-Ziętkiewicz, Jasper J Saris, Nicolas Charlet-Berguerand, Federico Zara, Pasquale Striano, Amelie Piton
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes. Human mutation 43 (9) (2022)
Manon Boivin, Véronique Pfister, Angeline Gaucherot, Frank Ruffenach, Luc Negroni, Chantal Sellier, Nicolas Charlet-Berguerand
Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders. The EMBO journal 39 (4) (2020)
Chantal Sellier, Maria-Letizia Campanari, Camille Julie Corbier, Angeline Gaucherot, Isabelle Kolb-Cheynel, Mustapha Oulad-Abdelghani, Frank Ruffenach, Adeline Page, Sorana Ciura, Edor Kabashi, Nicolas Charlet-Berguerand
Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death. The EMBO journal 35 (12) (2016)

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Publication Activity (10 Years)

Top Topics

Top Venues

Nicolas Charlet-Berguerand