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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2015
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EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders
- Valérie Biancalana
- Dieter Glaeser
- Shirley Mcquaid
- Peter Steinbach
European Journal of Human Genetics ; Volume: 23 ; Page: 417-425
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2014
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Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations
- Johann Böhm
- Valerie Biancalana
- Edoardo Malfatti
- Nicolas Dondaine
- Catherine Koch
- Nasim Vasli
- Wolfram Kress
- Matthias Strittmatter
- Ana Lía Taratuto
- Hernan Gonorazky
- Pascal Laforet
- Thierry Maisonobe
- Montse Olivé
- Laura González-Mera
- Michel Fardeau
- Nathalie Carrière
- Pierre Clavelou
- Bruno Eymard
- Marc Bitoun
- John Rendu
- ...
Brain - A Journal of Neurology ; Volume: 137 ; Page: 3160-3170
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Approach to the diagnosis of congenital myopathies
- Kahtyen N. North
- Ching H. Wang
- Nigel Clarke
- Heinz Jungbluth
- Mariz Vainzof
- James J. Dowling
- Kimberly Amburgey
- Susana Quijano-Roy
- Alan H. Beggs
- Caroline Sewry
- Nigel G. Laing
- Cartsen G. Bonnemann
- Valérie Biancalana
Neuromuscul Disord ; Volume: 24 ; Page: 97-116
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Integrative Data Mining Highlights Candidate Genes for Monogenic Myopathies
- Osorio Abath Neto
- Olivier Tassy
- Valerie Biancalana
- Edmar Zanoteli
- Olivier Pourquié
- Jocelyn Laporte
PLoS ONE ; Volume: 9 ; Page: e110888
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2013
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Adult centronuclear myopathies: A hospital-based study, Les myopathies centronucléaires de l’adulte : une étude monocentrique rétrospective
- Andoni Echaniz‐laguna
- Valerie Biancalana
- Johann Böhm
- Christine Tranchant
- Jean-Louis Mandel
- Jocelyn Laporte
Revue Neurologique ; Volume: 169 ; Page: 625-631
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Extensive morphological and immunohistochemical characterization in myotubular myopathy
- Minobu Shichiji
- Valerie Biancalana
- Michel Fardeau
- Jean‐yves Hogrel
- Makiko Osawa
- Jocelyn Laporte
- Norma Beatriz Romero
Brain and Behavior ; Volume: 3 ; Page: 476-486
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An integrated diagnosis strategy for congenital myopathies.
- Johann Böhm
- Nasim Vasli
- Edoardo Malfatti
- Stéphanie Le Gras
- Claire Feger
- Bernard Jost
- Nicole Monnier
- Julie Brocard
- Hatice Karasoy
- Marion Gérard
- Maggie C. Walter
- Peter Reilich
- Valérie Biancalana
- Christine Kretz
- Nadia Messaddeq
- Isabelle Marty
- Joël Lunardi
- Norma B. Romero
- Jocelyn Laporte
PLoS ONE ; Volume: 8 ; Page: e67527
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2012
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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy
- Johann Böhm
- Valérie Biancalana
- Elizabeth T Dechene
- Marc Bitoun
- Christophe Pierson
- Elise Schaefer
- Hatice Karasoy
- Melissa A Dempsey
- Fabrice Klein
- Nicolas Dondaine
- Christine Kretz
- Nicolas Haumesser
- Claire Poirson
- Anne Toussaint
- Rebecca S Greenleaf
- Melissa A Barger
- Lane J Mahoney
- Peter B Kang
- Edmar Zanoteli
- John Vissing
- ...
Human Mutation ; Volume: 33 ; Page: 949 - 959
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Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype
- Nasim Vasli
- Vincent Laugel
- Johann Böhm
- Béatrice Lannes
- Valerie Biancalana
- Jocelyn Laporte
European Journal of Human Genetics ; Volume: 20 ; Page: 701-704
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Clinical utility gene card for: Centronuclear and myotubular myopathies
- Valerie Biancalana
- Alan H. Beggs
- Soma Das
- Heinz Jungbluth
- Wolfram Kress
- Ichizo Nishino
- Kathryn N. North
- Norma Beatriz Romero
- Jocelyn Laporte
European Journal of Human Genetics ; Volume: 20 ; Page: 1101--1101
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