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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2012
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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
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2011
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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
Eur J Hum Genet ; Volume: 19
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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
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2010
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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
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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
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2008
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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
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2007
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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
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Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.
- Anne-Sophie Nicot
- Anne Toussaint
- Valérie Tosch
- Christine Kretz
- Carina Wallgren-Pettersson
- Erik Iwarsson
- Helen Kingston
- Jean-Marie Garnier
- Valérie Biancalana
- Anders Oldfors
- Jean-Louis Mandel
- Jocelyn Laporte
Nature Genetics ; Volume: 39 ; Page: 1134-9
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2005
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FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy.
- Valérie Biancalana
- Mathias Toft
- Isabelle Le Ber
- François Tison
- Elisabeth Scherrer
- Stephen N. Thibodeau
- Jean-Louis Mandel
- Alexis Brice
- Matthew J Farrer
- Alexandra Dürr
Archives of Neurology -Chigago- ; Volume: 62 ; Page: 962-6
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2004
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Fragile X mental retardation syndrome: from pathogenesis to diagnostic issues
- Jean-Louis Mandel
- Valérie Biancalana
Growth Hormone and IGF Research ; Volume: 14 Suppl A ; Page: S158-165
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