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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2011
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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
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2010
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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
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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
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2008
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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
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2007
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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
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Article in a journal
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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Article in a journal
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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Article in a journal
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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Article in a journal
Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromes
- Elisabeth Flori
- Valérie Biancalana
- Françoise Girard-Lemaire
- Romain Favre
- Jean Flori
- Berenice Doray
- Jean-Louis Mandel
European Journal of Human Genetics ; Volume: 12 ; Page: 181-186
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Article in a journal
118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy)
- E. Bertini
- Valérie Biancalana
- A. Bolino
- A. Buj Bello
- M. Clague
- P. Guicheney
- H. Jungbluth
- W. Kress
- A. Musaro
- H. Nandurkar
- L. Pirola
- N. Romero
- J. Senderek
- U. Suter
- C. Sewry
- H. Tronchere
- C. Wallgren-Pettersson
- M.J. Wishart
- Jocelyn Laporte
Neuromuscular Disorders ; Volume: 14 ; Page: 387-396
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