Nicolas CHARLET BERGUERAND

Publications

• 2021

  • Article in a journal

    Neuropathology of FMR1 -premutation carriers presenting with dementia and neuropsychiatric symptoms

    • Anke Dijkstra
    • Saif Haify
    • Niek Verwey
    • Niels Prins
    • Esmay van Der Toorn
    • Annemieke Rozemuller
    • Marianna Bugiani
    • Wilfred den Dunnen
    • Peter Todd
    • Nicolas Charlet-Berguerand
    • Rob Willemsen
    • Renate Hukema
    • Jeroen Hoozemans

    Brain Communications ; Volume: 3 ; Page: fcab007

    HAL DOI

• 2020

  • Article in a journal

    De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

    • Francesca Mattioli
    • Gaelle Hayot
    • Nathalie Drouot
    • Bertrand Isidor
    • Jérémie Courraud
    • Maria-Victoria Hinckelmann
    • Frederic Tran Mau-Them
    • Chantal Sellier
    • Alica Goldman
    • Aida Telegrafi
    • Alicia Boughton
    • Candace Gamble
    • Sebastien Moutton
    • Angélique Quartier
    • Nolwenn Jean
    • Paul van Ness
    • Sarah Grotto
    • Sophie Nambot
    • Ganka Douglas
    • Yue Cindy Si
    • ...

    American Journal of Human Genetics ; Volume: 106 ; Page: 438-452

    HAL DOI

  • Article in a journal

    Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders

    • Manon Boivin
    • Véronique Pfister
    • Angeline Gaucherot
    • Frank Ruffenach
    • Luc Negroni
    • Chantal Sellier
    • Nicolas Charlet‐berguerand

    EMBO Journal ; Volume: 39 ; Page: e100574

    HAL DOI

  • Article in a journal

    Distribution of Parkinson's disease associated RAB39B in mouse brain tissue

    • Yujing Gao
    • Gabrielle Wilson
    • Sarah Stephenson
    • Mustapha Oulad-Abdelghani
    • Nicolas Charlet-Berguerand
    • Kiymet Bozaoglu
    • Catriona Mclean
    • Paul Thomas
    • David Finkelstein
    • Paul Lockhart

    Molecular Brain ; Volume: 13

    HAL DOI

• 2019

  • Article in a journal

    FMRpolyG alters mitochondrial transcripts level and respiratory chain complex assembly in Fragile X associated tremor/ataxia syndrome [FXTAS]

    • Dhruv Gohel
    • Lakshmi Sripada
    • Paresh Prajapati
    • Kritarth Singh
    • Milton Roy
    • Darshan Kotadia
    • Flora Tassone
    • Nicolas Charlet-Berguerand
    • Rajesh Singh

    Biochimica et Biophysica Acta - Molecular Basis of Disease ; Volume: 1865 ; Page: 1379-1388

    HAL DOI

• 2018

  • Article in a journal

    Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers

    • Petra Frick
    • Chantal Sellier
    • Ian Mackenzie
    • Chieh-Yu Cheng
    • Julie Tahraoui-Bories
    • Cecile Martinat
    • R. Jeroen Pasterkamp
    • Johannes Prudlo
    • Dieter Edbauer
    • Mustapha Oulad-Abdelghani
    • Regina Feederle
    • Nicolas Charlet-Berguerand
    • Manuela Neumann

    Acta Neuropathologica Communications ; Volume: 6

    HAL DOI

  • Article in a journal

    rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences

    • Chantal Sellier
    • Estefanía Cerro-Herreros
    • Markus Blatter
    • Fernande Freyermuth
    • Angeline Gaucherot
    • Frank Ruffenach
    • Partha Sarkar
    • Jack Puymirat
    • Bjarne Udd
    • John Day
    • Giovanni Meola
    • Guillaume Bassez
    • Harutoshi Fujimura
    • Masanori Takahashi
    • Benedikt Schoser
    • Denis Furling
    • Ruben Artero
    • Frédéric Allain
    • Beatriz Llamusi
    • Nicolas Charlet-Berguerand

    Nature Communications ; Volume: 9

    HAL DOI

  • Article in a journal

    Repeat-associated non-AUG (RAN) translation and other molecular mechanisms in Fragile X Tremor Ataxia Syndrome

    • M. Rebecca Glineburg
    • Peter Todd
    • Nicolas Charlet-Berguerand
    • Chantal Sellier

    Brain Research ; Volume: 1693 ; Page: 43-54

    HAL DOI

  • Article in a journal

    Daunorubicin reduces MBNL1 titration by expanded CUG repeat RNA and rescues cardiac dysfunctions in a Drosophila model of myotonic dystrophy

    • M. Chakraborty
    • Chantal Sellier
    • Michel Ney
    • Pascal Villa
    • Nicolas Charlet-Berguerand
    • R. Artero
    • B. Llamusi

    Disease Models & Mechanisms

    HAL DOI

• 2017

  • Article in a journal

    A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family

    • Ozlem Okutman
    • Jean Muller
    • Valerie Skory
    • Jean Marie Garnier
    • Angeline Gaucherot
    • Yoni Baert
    • Valérie Lamour
    • Munevver Serdarogullari
    • Meral Gultomruk
    • Albrecht Röpke
    • Sabine Kliesch
    • Viviana Herbepin
    • Isabelle Aknin
    • Moncef Ben Khalifa
    • Marius Teletin
    • Emre Bakircioglu
    • Ellen Goossens
    • Nicolas Charlet-Berguerand
    • Mustafa Bahceci
    • Frank Tüttelmann
    • ...

    Journal of Assisted Reproduction and Genetics ; Volume: 34 ; Page: 683-694

    HAL DOI