Scientific publications

Publications

• 2020

  • Deficiency of the SMOC2 matricellular protein impairs bone healing and produces age-dependent bone loss

    • Supawich Morkmued
    • François Clauss
    • Brigitte Schuhbaur
    • Valerie Fraulob
    • Eric Mathieu
    • Joseph Hemmerlé
    • Hans Clevers
    • Bon-Kyoung Koo
    • Pascal Dollé
    • Agnès Bloch-Zupan
    • Karen Niederreither

    Scientific Reports ; Volume: 10 ; Page: 14817

    HAL DOI

  • Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations

    • Megan Spencer-Smith
    • Jacquelyn Knight
    • Emmanuelle Lacaze
    • Christel Depienne
    • Paul J Lockhart
    • Linda J. Richards
    • Delphine Heron
    • Richard J. Leventer
    • Gail A. Robinson

    developmental medecine and child neurology ; Volume: 62 ; Page: 758-762

    HAL DOI

  • Benign hereditary chorea: From benign to serious

    • Anaide Lamiral
    • Salima El Chehadeh
    • Jameleddine Chelly
    • Mathieu Anheim
    • Vincent Laugel
    • Christine Tranchant

    Revue Neurologique ; Volume: 176 ; Page: 295-296

    HAL DOI

  • A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers

    • Teresinha Evangelista
    • Xavière Lornage
    • Pierre Carlier
    • Guillaume Bassez
    • Guy Brochier
    • Anaïs Chanut
    • Emmanuelle Lacène
    • Mai-Thao Bui
    • Corinne Metay
    • Ursula Oppermann
    • Johann Böhm
    • Jocelyn Laporte
    • Norma Romero

    Journal of Neurology, Neurosurgery and Psychiatry ; Volume: 79 ; Page: 908-914

    HAL DOI

  • Mutations in genes encoding regulators of mRNA decapping and translation initiation: links to intellectual disability

    • Dominique Weil
    • Amélie Piton
    • Davor Lessel
    • Nancy Standart

    Biochemical Society Transactions ; Volume: 48 ; Page: 1199-1211

    HAL DOI

  • Breaking Bad and Breaking Good: beta-Cell Autophagy Pathways in Diabetes

    • Kevin Vivot
    • Adrien Pasquier
    • Alexander Goginashvili
    • Romeo Ricci

    Journal of Molecular Biology ; Volume: 432 ; Page: 1494-1513

    HAL DOI

  • Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES)

    • Claudia Bonardi
    • Cyril Mignot
    • José Serratosa
    • Beatriz Giraldez
    • Raffaella Moretti
    • Gabrielle Rudolf
    • Chiara Reale
    • Pia Gellert
    • Katrine Johannesen
    • Gaëtan Lesca
    • Carlo Tassinari
    • Elena Gardella
    • Rikke Møller
    • Guido Rubboli

    Clinical Neurophysiology ; Volume: 131 ; Page: 1030-1039

    HAL DOI

  • Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome

    • Georges Peche
    • Coralie Spiegelhalter
    • Roberto Silva Rojas
    • Jocelyn Laporte
    • Johann Böhm

    Neuropathology ; Volume: 40 ; Page: 559-569

    HAL DOI

  • Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome

    • Andoni Echaniz-Laguna
    • Valérie Biancalana
    • Aleksandra Nadaj-Pakleza
    • Emmanuel Fournier
    • Emma Matthews
    • Michael Hanna
    • Roope Männikkö

    Journal of Neurology, Neurosurgery and Psychiatry ; Volume: 91 ; Page: 898-900

    HAL DOI

  • Reproduction Function in Male Patients With Bardet Biedl Syndrome

    • Isabelle Koscinski
    • Manuel Mark
    • Nadia Messaddeq
    • Jean Jacques Braun
    • Catherine Celebi
    • Jean Muller
    • Anna Zinetti-Bertschy
    • Nathalie Goetz
    • Hélène Dollfus
    • Sylvie Rossignol

    Journal of Clinical Endocrinology and Metabolism ; Volume: 105 ; Page: e4417-e4429

    HAL DOI