Scientific publications

Publications

• 2016

  • Article in a journal

    Impact of sialic acids on the molecular dynamic of bi-antennary and tri-antennary glycans

    • Alexandre Guillot
    • Manuel Dauchez
    • Nicolas Belloy
    • Jessica Jonquet
    • Laurent Duca
    • Béatrice Romier
    • Pascal Maurice
    • Laurent Debelle
    • Laurent Martiny
    • Vincent Durlach
    • Stéphanie Baud
    • Sébastien Blaise

    Scientific Reports ; Volume: 6

    HAL DOI

  • Article in a journal

    Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

    • Gabrielle Rudolf
    • Gaetan Lesca
    • Mana M. Mehrjouy
    • Audrey Labalme
    • Manal Salmi
    • Iben Bache
    • Nadine Bruneau
    • Manuela Pendziwiat
    • Joel Fluss
    • Julitta de Bellescize
    • Julia Scholly
    • Rikke S. Møller
    • Dana Craiu
    • Niels Tommerup
    • Maria Paola Valenti-Hirsch
    • Caroline Schluth-Bolard
    • Frédérique Sloan-Béna
    • Katherine L. Helbig
    • Sarah Weckhuysen
    • Patrick Edery
    • ...

    European Journal of Human Genetics ; Volume: 24 ; Page: 1761-1770

    HAL DOI

  • Article in a journal

    Solution structure of the 5'-terminal hairpin of the 7SK small nuclear RNA

    • Sarah Bourbigot
    • Anne-Catherine Dock-Bregeon
    • Pascal Eberling
    • Jérôme Coutant
    • Bruno Kieffer
    • Isabelle Lebars

    RNA ; Volume: 22 ; Page: 1844-1858

    HAL DOI

  • Article in a journal

    A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

    • Corinne Stoetzel
    • Séverine Bär
    • Johan-Owen de Craene
    • Sophie Scheidecker
    • Christelle Etard
    • Johana Chicher
    • Jennifer R Reck
    • Isabelle Perrault
    • Véronique Geoffroy
    • Kirsley Chennen
    • Uwe Strähle
    • Philippe Hammann
    • Sylvie Friant
    • Hélène Dollfus

    Nature Communications ; Volume: 7

    HAL DOI

  • Article in a journal

    A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3

    • Mathilde Renaud
    • Christophe Marcel
    • Gabrielle Rudolf
    • Mickaël Schaeffer
    • Ouhaid Lagha-Boukbiza
    • Jean-Baptiste Chanson
    • Jamel Chelly
    • Mathieu Anheim
    • Christine Tranchant

    BMC Neurology ; Volume: 16 ; Page: 238

    HAL DOI

  • Article in a journal

    De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

    • Iris de Lange
    • Katherine Helbig
    • Sarah Weckhuysen
    • Rikke Møller
    • Milen Velinov
    • Natalia Dolzhanskaya
    • Eric Marsh
    • Ingo Helbig
    • Orrin Devinsky
    • Sha Tang
    • Heather Mefford
    • Candace Myers
    • Wim van Paesschen
    • Pasquale Striano
    • Koen van Gassen
    • Marjan van Kempen
    • Carolien de Kovel
    • Juliette Piard
    • Berge Minassian
    • Marjan Nezarati
    • ...

    Journal of Medical Genetics ; Volume: 53 ; Page: 850-858

    HAL DOI

  • Article in a journal

    Schizosaccharomyces pombe kinesin-5 switches direction using a steric blocking mechanism

    • Adeline Goulet
    • Mishan Britto
    • Syeda Rizvi
    • Ottilie von Loeffelholz
    • Carolyn Moores
    • Robert Cross

    Proceedings of the National Academy of Sciences of the United States of America ; Volume: 113 ; Page: E7483-E7489

    HAL DOI

  • Article in a journal

    Eukaryotic Ribosome as a Target for Cardiovascular Disease

    • Simone P Pellegrino
    • Gulnara Yusupova

    Cell Chemical Biology ; Volume: 17 ; Page: 1319-1321

    HAL DOI

  • Article in a journal

    Comments on: fold change rank ordering statistics: a new method for detecting differentially expressed genes

    • Doulaye Dembele
    • Philippe Kastner

    BMC Bioinformatics ; Volume: 17

    HAL DOI

  • Article in a journal

    SUV4-20 activity in the preimplantation mouse embryo controls timely replication

    • André Eid
    • Diego Rodriguez-Terrones
    • Adam Burton
    • Maria-Elena Torres-Padilla

    Genes and Development ; Volume: 30 ; Page: 2513-2526

    HAL DOI