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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2017
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Article in a journal
HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy
- Yon Andoni Echaniz-Laguna
- Xavière Lornage
- Beatrice Lannes
- Raphael Schneider
- Guillaume Bierry
- Nicolas Dondaine
- Anne Boland
- J Deleuze
- Johann Bohm
- Julie D. Thompson
- Jocelyn Laporte
- Valerie Biancalana
Acta Neuropathologica ; Volume: 134 ; Page: 163-165
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Article in a journal
Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1
- Carlyn Kouwenberg
- Johann Bohm
- Corrie Erasmus
- Irene van Balken
- Sandra Vos
- Benno Kusters
- Erik Kamsteeg
- Valerie Biancalana
- Catherine Koch
- Nicolas Dondaine
- Jocelyn Laporte
- Nicol Voermans
Journal of Neuromuscular Diseases ; Volume: 4 ; Page: 349-355
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Article in a journal
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods
- Xavière Lornage
- Edoardo Malfatti
- Raphael Schneider
- Valerie Biancalana
- Jean Cuisset
- Matteo Garibaldi
- Bruno Eymard
- Michel Fardeau
- Anne Boland
- Jean Deleuze
- Julie D. Thompson
- Robert Carlier
- Johann Bohm
- Norma Romero
- Jocelyn Laporte
Ann Neurol ; Volume: 81 ; Page: 467-473
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Article in a journal
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
- Vanessa Schartner
- Norma Romero
- Sandra Donkervoort
- Susan Treves
- Pinki Munot
- Tyler Pierson
- Ivana Dabaj
- Edoardo Malfatti
- Irina Zaharieva
- Francesco Zorzato
- Osario Abath Neto
- Guy Brochier
- Xavière Lornage
- Bruno Eymard
- Ana Taratuto
- Johann Böhm
- Hernan Gonorazky
- Leigh Ramos-Platt
- Lucy Feng
- Rahul Phadke
- ...
Acta Neuropathologica ; Volume: 133 ; Page: 517-533
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Article in a journal
Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation
- Osorio Abath Neto
- Carlos Heise
- Cristiane de Araújo Martins Moreno
- Eduardo de Paula Estephan
- Lilia Mesrob
- Doris Lechner
- Anne Boland
- Jean-François Deleuze
- Acary Souza Bulle Oliveira
- Umbertina Reed
- Valerie Biancalana
- Jocelyn Laporte
- Edmar Zanoteli
Canadian Journal of Neurological Sciences ; Volume: 44 ; Page: 125-127
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2016
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Article in a journal
A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels
- O. Abath Neto
- M. R. Silva
- A. Martins Cde
- S. Oliveira Ade
- U. C. Reed
- Valérie Biancalana
- J. B. Pesquero
- Jocelyn Laporte
- E. Zanoteli
Pediatric neurology ; Volume: 58 ; Page: 107-12
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2015
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Article in a journal
Clinical massively parallel sequencing for the diagnosis of myopathies
- Svetlana Gorokhova
- Valerie Biancalana
- Nicolas Lévy
- Jocelyn Laporte
- Marc Bartoli
- Martin Krahn
Revue Neurologique ; Volume: 171 ; Page: 558-571
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Article in a journal
Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis
- Valérie Biancalana
- Jocelyn Laporte
Journal of Neuromuscular Diseases ; Volume: 2 ; Page: 193-203
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Article in a journal
EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders
- Valérie Biancalana
- Dieter Glaeser
- Shirley Mcquaid
- Peter Steinbach
European Journal of Human Genetics ; Volume: 23 ; Page: 417-425
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2014
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Article in a journal
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations
- Johann Böhm
- Valerie Biancalana
- Edoardo Malfatti
- Nicolas Dondaine
- Catherine Koch
- Nasim Vasli
- Wolfram Kress
- Matthias Strittmatter
- Ana Lía Taratuto
- Hernan Gonorazky
- Pascal Laforet
- Thierry Maisonobe
- Montse Olivé
- Laura González-Mera
- Michel Fardeau
- Nathalie Carrière
- Pierre Clavelou
- Bruno Eymard
- Marc Bitoun
- John Rendu
- ...
Brain - A Journal of Neurology ; Volume: 137 ; Page: 3160-3170
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