Valérie BIANCALANA

Publications

• 2012

  • 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

    HAL DOI

• 2011

  • 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

    HAL DOI

  • 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

    HAL DOI

• 2010

  • 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

    HAL DOI

  • 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

    HAL DOI

• 2008

  • 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

    HAL DOI

• 2007

  • 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

    HAL DOI

  • 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

    HAL DOI

• 2005

  • 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

    HAL DOI

• 2004

  • 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

    HAL DOI