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
2007
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
2005
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
2004
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
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
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
2003
Article in a journal
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype
- Valérie Biancalana
- Olivier Caron
- Sabina Gallati
- Frank Baas
- Wolfram Kress
- Giuseppe Novelli
- Maria Rosaria d'Apice
- Clotilde Lagier-Tourenne
- Anna Buj-Bello
- Norma B. Romero
- Jean-Louis Mandel
Human Genetics ; Volume: 112 ; Page: 135-142
Article in a journal
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles
- Sarah L. Nolin
- W. Ted Brown
- Anne Glicksman
- George E. Houck
- Alice D. Gargano
- Amy Sullivan
- Valérie Biancalana
- Karen Bröndum-Nielsen
- Helle Hjalgrim
- Elke Holinski-Feder
- Frank Kooy
- John Longshore
- James Macpherson
- Jean-Louis Mandel
- Gert Matthijs
- François Rousseau
- Peter Steinbach
- Marja-Leena Väisänen
- Harriet von Koskull
- Stephanie L. Sherman
American Journal of Human Genetics ; Volume: 72 ; Page: 454-464
2002
Article in a journal
Genotype–phenotype correlations in X-linked myotubular myopathy
- Meriel Mcentagart
- Gretchen Parsons
- Anna Buj-Bello
- Valérie Biancalana
- Iain Fenton
- Mark Little
- Michael Krawczak
- Nick Thomas
- Gail Herman
- Angus Clarke
- Carina Wallgren-Pettersson
Neuromuscular Disorders ; Volume: 12 ; Page: 939-946
2001
Article in a journal
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia
- Marie C. Vincent
- Valérie Biancalana
- Danièle Ginisty
- Jean-Louis Mandel
- Patrick Calvas
European Journal of Human Genetics ; Volume: 9 ; Page: 355-363
Article in a journal
Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation.
- F Giraudeau
- L Taine
- V Biancalana
- B Delobel
- H Journel
- C Missirian
- D Lacombe
- D Bonneau
- P Parent
- D Aubert
- Y Hauck
- M F Croquette
- A Toutain
- M G Mattei
- H A Loiseau
- A David
- Gilles Vergnaud
Journal of Medical Genetics ; Volume: 38 ; Page: 121-5