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
-
2003
-
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
-
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
-
-
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
-
-
2000
-
Article in a journal
MTM1 mutations in X-linked myotubular myopathy
- Jocelyn Laporte
- Valérie Biancalana
- Stephan Tanner
- Wolfram Kress
- Vreni Schneider
- Carina Wallgren-Pettersson
- Franziska Herger
- Anna Buj-Bello
- François Blondeau
- Sabina Liechti-Gallati
- Jean-Louis Mandel
Human Mutation ; Volume: 15 ; Page: 393-409
-
-
1999
-
Article in a journal
Identification of novel mutations in theMTM1 gene causing severe and mild forms of X-linked myotubular myopathy
- Anna Buj-Bello
- Valérie Biancalana
- Céline Moutou
- Jocelyn Laporte
- Jean-Louis Mandel
Human Mutation ; Volume: 14 ; Page: 320-325
-
Article in a journal
Expression of FMR1, FXR1, and FXR2 genes in human prenatal tissues
- Cendra Agulhon
- Patricia Blanchet
- Alexandra Kobetz
- Dominique Marchant
- Nicole Faucon
- Pierre Sarda
- Claude Moraine
- Annie Sittler
- Valérie Biancalana
- Alain Malafosse
- Marc Abitbol
Journal of Neuropathology and Experimental Neurology ; Volume: 58 ; Page: 867-880
-
-
1996
-
Article in a journal
Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats.
- D Rubinsztein
- J Leggo
- R Coles
- E Almqvist
- V Biancalana
- J Cassiman
- K Chotai
- M Connarty
- D Crauford
- A Curtis
- D Curtis
- M Davidson
- A Differ
- C Dode
- A Dodge
- M Frontali
- N Ranen
- O Stine
- M Sherr
- M Abbott
- ...
American Journal of Human Genetics ; Volume: 59 ; Page: 16-22
-
Article in a journal
Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males
- Valérie Biancalana
- L Taine
- J Bouix
- S Finck
- A Chauvin
- H de Verneuil
- S Knight
- C Stoll
- D Lacombe
- Jean-Louis Mandel
American Journal of Human Genetics ; Volume: 59 ; Page: 847-854
-