Valérie BIANCALANA

Publications

• 2020

  • Article in a journal

    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

  • Article in a journal

    Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy

    • Claire Lefeuvre
    • Stéphane Schaeffer
    • Robert Yves Carlier
    • Maxime Fournier
    • Françoise Chapon
    • Valérie Biancalana
    • Guillaume Nicolas
    • Eduardo Malfatti
    • Pascal Laforêt

    Molecular Genetics and Metabolism Reports ; Volume: 24

    HAL DOI

  • Article in a journal

    Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation

    • Gilles Morin
    • Valérie Biancalana
    • Andoni Echaniz-Laguna
    • Jean-Baptiste Noury
    • Xavière Lornage
    • Maurizio Moggio
    • Michela Ripolone
    • Raffaella Violano
    • Pascale Marcorelles
    • Denis Maréchal
    • Florence Renaud
    • Claude-Alain Maurage
    • Céline Tard
    • Jean-Marie Cuisset
    • Jocelyn Laporte
    • Johann Böhm

    Human Mutation ; Volume: 41 ; Page: 17-37

    HAL DOI

• 2019

  • Article in a journal

    A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing

    • Martin Krahn
    • Valérie Biancalana
    • Mathieu Cerino
    • Aurélien Perrin
    • Laurence Michel-Calemard
    • Juliette Nectoux
    • France Leturcq
    • Céline Bouchet-Séraphin
    • Cécile Acquaviva-Bourdain
    • Emmanuelle Campana-Salort
    • Annamaria Molon
    • Jon Andoni Urtizberea
    • Frédérique Audic
    • Brigitte Chabrol
    • Jean Pouget
    • Roseline Froissart
    • Judith Melki
    • John Rendu
    • François Petit
    • Corinne Metay
    • ...

    European Journal of Human Genetics ; Volume: 27 ; Page: 349-352

    HAL DOI

  • Article in a journal

    Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study

    • Andoni Echaniz-Laguna
    • Yann Nadjar
    • Anthony Behin
    • Valérie Biancalana
    • Monique Piraud
    • Edoardo Malfatti
    • Pascal Laforet

    Journal of Inherited Metabolic Disease ; Volume: 42 ; Page: 803-808

    HAL DOI

  • Article in a journal

    Clinical, histological, and genetic characterization of PYROXD1-related myopathy

    • Xavière Lornage
    • Vanessa Schartner
    • Inès Balbueno
    • Valérie Biancalana
    • Tracey Willis
    • Andoni Echaniz-Laguna
    • Sophie Scheidecker
    • Ros Quinlivan
    • Michel Fardeau
    • Edoardo Malfatti
    • Béatrice Lannes
    • Caroline Sewry
    • Norma B. Romero
    • Jocelyn Laporte
    • Johann Böhm

    Acta Neuropathologica Communications ; Volume: 7 ; Page: 138

    HAL DOI

• 2018

  • Article in a journal

    Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

    • Valérie Biancalana
    • Norma Romero
    • Inger Johanne Thuestad
    • Jaakko Ignatius
    • Janne Kataja
    • Maria Gardberg
    • Dephine Héron
    • Edoardo Malfatti
    • Anders Oldfors
    • Jocelyn Laporte

    Acta Neuropathologica Communications ; Volume: 6

    HAL DOI

  • Article in a journal

    An integrated modelling methodology for estimating the prevalence of centronuclear myopathy

    • I Vandersmissen
    • Valerie Biancalana
    • L Servais
    • J Dowling
    • G Vander Stichele
    • S van Rooijen
    • L Thielemans

    Neuromuscul Disord ; Volume: 28 ; Page: 766-777

    HAL DOI

  • Article in a journal

    A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

    • Macarena Cabrera-Serrano
    • Fabiola Mavillard
    • Valerie Biancalana
    • Eloy Rivas
    • Bharti Morar
    • Aurelio Hernandez-Lain
    • Montse Olive
    • Nuria Muelas
    • Eduardo Khan
    • Alejandra Carvajal
    • Pablo Quiroga
    • Jordi Diaz-Manera
    • Mark Davis
    • Rainiero Avila
    • Cristina Dominguez
    • Norma Romero
    • Juan Vilchez
    • David Comas
    • Nigel Laing
    • Jocelyn Laporte
    • ...

    Neurology ; Volume: 91 ; Page: 339-348

    HAL DOI

• 2017

  • Article in a journal

    Recessive myopalladin mutations cause congenital cap myopathy with unusual rods

    • E. Malfatti
    • X. Lornage
    • C. Chéraud
    • R. Schneider
    • V. Biancalana
    • J. Cuisset
    • M. Garibaldi
    • B. Eymard
    • M. Fardeau
    • A. Boland
    • J. Deleuze
    • J. Thompson
    • J. Böhm
    • N. Romero
    • J. Laporte

    Neuromuscular Disorders ; Volume: 27 ; Page: S185

    HAL DOI