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
2012
Article in a journal
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
Article in a journal
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
Article in a journal
Next generation sequencing for molecular diagnosis of neuromuscular diseases
- Nasim Vasli
- Johann Böhm
- Stéphanie Le Gras
- Jean Muller
- Cécile Pizot
- Bernard Jost
- Andoni Echaniz‐laguna
- Vincent Laugel
- Christine Tranchant
- Rafaelle Bernard
- Frederic Plewniak
- Serge Vicaire
- Nicolas Levy
- Jamel Chelly
- Jean-Louis Mandel
- Valerie Biancalana
- Jocelyn Laporte
Acta Neuropathologica ; Volume: 124 ; Page: 273 - 283
Article in a journal
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
2011
Article in a journal
Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency
- Sebastien Jacquemont
- Stefanie Birnbaum
- Silke Redler
- Peter Steinbach
- Valérie Biancalana
European Journal of Human Genetics ; Volume: 19
Article in a journal
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia
- Mireille Cossée
- Laurence Faivre
- Christophe Philippe
- Heifa Hichri
- Anne de Saint Martin
- Vincent Laugel
- Nadia Bahi-Buisson
- Jean-François Lemaître
- Bruno Leheup
- Bruno Delobel
- Bénédicte Demeer
- Karine Poirier
- Valerie Biancalana
- Jean-Michel Pinoit
- Sophie Julia
- Jamel Chelly
- Didier Devys
- Jean-Louis Mandel
American Journal of Medical Genetics Part A ; Volume: 155 ; Page: 98--105
2010
Article in a journal
Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy
- Verity Mcclelland
- Thomas Cullup
- Istvan Bodi
- Deborah Ruddy
- Anna Buj-Bello
- Valerie Biancalana
- J. Boehm
- Marc Bitoun
- Owen Miller
- Wajanat Jan
- Esse Menson
- Luis Amaya
- John Trounce
- Jocelyn Laporte
- Shehla Mohammed
- Caroline Sewry
- Julian Raiman
- Heinz Jungbluth
American Journal of Medical Genetics Part A ; Volume: 152A ; Page: 741-747
Article in a journal
Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations
- Valérie Tosch
- Nasim Vasli
- Christine Kretz
- Anne-Sophie Nicot
- Claire Gasnier
- Nicolas Dondaine
- Denis Oriot
- Magalie Barth
- Hugues Puissant
- Norma B. Romero
- Carsten G. Bönnemann
- Betty Heller
- Gilles Duval
- Valérie Biancalana
- Jocelyn Laporte
Neuromuscul Disord ; Volume: 20 ; Page: 375-381
2008
Article in a journal
G.P.9.11 Histopathological findings in Vici syndrome
- V.M. Mcclelland
- O. Miller
- W. Jan
- L. Amaya
- A. Buj-Bello
- V. Biancalana
- M. Bitoun
- I. Bodi
- D.M. Ruddy
- S. Mohammed
- H. Jungbluth
Neuromuscular Disorders ; Volume: 18 ; Page: 788-789
2007
Article in a journal
Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.
- Andoni Echaniz-Laguna
- Anne-Sophie Nicot
- Sophie Carré
- Jérôme Franques
- Christine Tranchant
- Nicolas Dondaine
- Valérie Biancalana
- Jean-Louis Mandel
- Jocelyn Laporte
Neuromuscular Disorders ; Volume: 17 ; Page: 955-959