Valérie BIANCALANA

Publications

• 2024

  • Article in a journal

    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

  • Article in a journal

    Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations

    • Yvan de Feraudy
    • Marie Vandroux
    • Norma Beatriz Romero
    • Raphaël Schneider
    • Safaa Saker
    • Anne Boland
    • Jean-François Deleuze
    • Jean‐françois Deleuze
    • Valérie Biancalana
    • Johann Böhm
    • Jocelyn Laporte

    Genome Medicine ; Volume: 16 ; Page: 87

    HAL DOI

  • Article in a journal

    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

  • Article in a journal

    Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

    • Ana Töpf
    • Dan Cox
    • Irina T. Zaharieva
    • Valeria Di Leo
    • Jaakko Sarparanta
    • Per Harald Jonson
    • Ian M. Sealy
    • Andrei Smolnikov
    • Richard J. White
    • Anna Vihola
    • Marco Savarese
    • Munise Merteroglu
    • Neha Wali
    • Kristen M. Laricchia
    • Cristina Venturini
    • Bas Vroling
    • Sarah L. Stenton
    • Beryl B. Cummings
    • Elizabeth Harris
    • Chiara Marini-Bettolo
    • ...

    Nature Genetics ; Volume: 56 ; Page: 395-407

    HAL DOI

• 2022

  • Article in a journal

    Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies

    • Clémence Labasse
    • Guy Brochier
    • Ana-Lia Taratuto
    • Bruno Cadot
    • John Rendu
    • Soledad Monges
    • Valérie Biancalana
    • Susana Quijano-Roy
    • Mai Thao Bui
    • Anaïs Chanut
    • Angéline Madelaine
    • Emmanuelle Lacène
    • Maud Beuvin
    • Helge Amthor
    • Laurent Servais
    • Yvan de Feraudy
    • Marcela Erro
    • Maria Saccoliti
    • Osorio Abath Neto
    • Julien Fauré
    • ...

    Acta Neuropathologica Communications ; Volume: 10 ; Page: 101

    HAL DOI

• 2021

  • Article in a journal

    A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

    • Valérie Biancalana
    • John Rendu
    • Annabelle Chaussenot
    • Helen Mecili
    • Eric Bieth
    • Mélanie Fradin
    • Sandra Mercier
    • Maud Michaud
    • Marie-Christine Nougues
    • Laurent Pasquier
    • Sabrina Sacconi
    • Norma Romero
    • Pascale Marcorelles
    • François Jérôme Authier
    • Antoinette Gelot Bernabe
    • Emmanuelle Uro-Coste
    • Claude Cances
    • Bertrand Isidor
    • Armelle Magot
    • Marie-Christine Minot-Myhie
    • ...

    Acta Neuropathologica Communications ; Volume: 9 ; Page: 155

    HAL DOI

  • Article in a journal

    An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families

    • Raul Juntas Morales
    • Aurélien Perrin
    • Guilhem Solé
    • Delphine Lacourt
    • Henri Pegeot
    • Ulrike Walther-Louvier
    • Pascal Cintas
    • Claude Cances
    • Caroline Espil
    • Corinne Theze
    • Reda Zenagui
    • Kevin Yauy
    • Elodie Cosset
    • Dimitri Renard
    • Valerie Rigau
    • Andre Maues de Paula
    • Emmanuelle Uro-Coste
    • Marie-Christine Arne-Bes
    • Marie-Laure Martin Négrier
    • Nicolas Leboucq
    • ...

    Genes ; Volume: 12 ; Page: 1199

    HAL DOI

  • Article in a journal

    A case of <i>ASAH1</i>‐related pure SMA evolving into adult‐onset Farber disease

    • Angela Puma
    • Andra Ezaru
    • Michele Cavalli
    • Luisa Villa
    • Federico Torre
    • Valérie Biancalana
    • Thierry Levade
    • Nicolae Grecu
    • Sabrina Sacconi

    Clinical Genetics ; Volume: 100 ; Page: 234 - 235

    HAL DOI

  • Article in a journal

    Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

    • Annie Laquerriere
    • Dana Jaber
    • Emanuela Abiusi
    • Jérome Maluenda
    • Dan Mejlachowicz
    • Alexandre Vivanti
    • Klaus Dieterich
    • Radka Stoeva
    • Loic Quevarec
    • Flora Nolent
    • Valérie Biancalana
    • Philippe Latour
    • Damien Sternberg
    • Yline Capri
    • Alain Verloes
    • Bettina Bessieres
    • Laurence Loeuillet
    • Tania Attie-Bitach
    • Jelena Martinovic
    • Sophie Blesson
    • ...

    Journal of Medical Genetics ; Volume: 59

    HAL DOI

  • Article in a journal

    Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy

    • Xavière Lornage
    • Martial Mallaret
    • Roberto Silva-Rojas
    • Valérie Biancalana
    • Diane Giovannini
    • Klaus Dieterich
    • Safaa Saker
    • Jean-François Deleuze
    • Bernard Wuyam
    • Jocelyn Laporte
    • Johann Böhm

    neurogenetics ; Volume: 22 ; Page: 33-41

    HAL DOI