Valérie BIANCALANA

Publications

• 2024

  • Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era

    • Mai Thao Bui
    • Gorka Fernández-Eulate
    • Teresinha Evangelista
    • Emmanuelle Lacène
    • Guy Brochier
    • Clémence Labasse
    • Angéline Madelaine
    • Anaïs Chanut
    • Maud Beuvin
    • Favienne Borsato-Levy
    • Valerie Biancalana
    • Giulia Barcia
    • Pascale de Lonlay
    • Jocelyn Laporte
    • Johann Böhm
    • Norma Beatriz Romero

    Acta Neuropathologica Communications ; Volume: 12 ; Page: 191

    HAL DOI

  • Phenotype variability and natural history of X-linked myopathy with excessive autophagy

    • Gorka Fernández-Eulate
    • Girolamo Alfieri
    • Marco Spinazzi
    • Isabelle Ackermann-Bonan
    • Fanny Duval
    • Guilhem Solé
    • Florence Caillon
    • Sandra Mercier
    • Yann Pereon
    • Armelle Magot
    • Antoine Pegat
    • Emmanuelle Salort-Campana
    • Brigitte Chabrol
    • Svetlana Gorokhova
    • Martin Krahn
    • Valerie Biancalana
    • Teresinha Evangelista
    • Anthony Behin
    • Corinne Metay
    • Tanya Stojkovic

    Journal of Neurology

    HAL DOI

• 2019

  • Myocapture: a large-scale sequencing project to identify novel genes for myopathies

    • Xavière Lornage
    • Raphaël Schneider
    • Chrystel Chéraud
    • Edoardo Malfatti
    • Vanessa Schartner
    • Kirsley Chennen
    • Gisèle Bonne
    • Isabelle Nelson
    • Valérie Allamand
    • Juliette Nectoux
    • France Leturcq
    • Marc Bartoli
    • Martin Krahn
    • Safaa Saker
    • Clinicians And Filnemus
    • Anne Boland
    • Jean-François Deleuze
    • Biancalana Valérie
    • N.B Romero
    • Johann Böhm
    • ...

    HAL

• 2018

  • 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

  • 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

• 2017

  • 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

  • HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy

    • Yon Andoni Echaniz-Laguna
    • Xavière Lornage
    • Beatrice Lannes
    • Raphael Schneider
    • Guillaume Bierry
    • Nicolas Dondaine
    • Anne Boland
    • J Deleuze
    • Johann Bohm
    • Julie D. Thompson
    • Jocelyn Laporte
    • Valerie Biancalana

    Acta Neuropathologica ; Volume: 134 ; Page: 163-165

    HAL DOI

  • Recessive MYPN mutations cause cap myopathy with occasional nemaline rods

    • Xavière Lornage
    • Edoardo Malfatti
    • Raphael Schneider
    • Valerie Biancalana
    • Jean Cuisset
    • Matteo Garibaldi
    • Bruno Eymard
    • Michel Fardeau
    • Anne Boland
    • Jean Deleuze
    • Julie D. Thompson
    • Robert Carlier
    • Johann Bohm
    • Norma Romero
    • Jocelyn Laporte

    Ann Neurol ; Volume: 81 ; Page: 467-473

    HAL DOI

  • Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation

    • Osorio Abath Neto
    • Carlos Heise
    • Cristiane de Araújo Martins Moreno
    • Eduardo de Paula Estephan
    • Lilia Mesrob
    • Doris Lechner
    • Anne Boland
    • Jean-François Deleuze
    • Acary Souza Bulle Oliveira
    • Umbertina Reed
    • Valerie Biancalana
    • Jocelyn Laporte
    • Edmar Zanoteli

    Canadian Journal of Neurological Sciences ; Volume: 44 ; Page: 125-127

    HAL DOI

  • Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1

    • Carlyn Kouwenberg
    • Johann Bohm
    • Corrie Erasmus
    • Irene van Balken
    • Sandra Vos
    • Benno Kusters
    • Erik Kamsteeg
    • Valerie Biancalana
    • Catherine Koch
    • Nicolas Dondaine
    • Jocelyn Laporte
    • Nicol Voermans

    Journal of Neuromuscular Diseases ; Volume: 4 ; Page: 349-355

    HAL DOI