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
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
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
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
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
2020
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
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
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
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
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
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