Pathophysiology of neuromuscular diseases
Team Leader : Jocelyn LAPORTE
Department : Translational medecine and neurogenetics
Valérie BIANCALANA
Researcher
valerie.biancalana@igbmc.fr
Research team(s)
Research subgroup(s)
Publications
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2024
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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
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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
- Valérie Biancalana
- Johann Böhm
- Jocelyn Laporte
Genome Medicine ; Volume: 16 ; Page: 87
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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
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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
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2022
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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
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2021
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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
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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
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A case of ASAH1-related pure SMA evolving into adult-onset Farber disease
- Angela Puma
- Andra Ezaru
- Michèle Cavalli
- Luisa Villa
- Federico Torre
- Valérie Biancalana
- Thierry Levade
- Nicolae Grecu
- Sabrina Sacconi
Clinical Genetics ; Volume: 100 ; Page: 234-235
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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
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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
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