Publications by authors named "Brigitte Estournet"

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The clinical, histologic, and genotypic spectrum of -related myopathy: A case series.
Rocio N Villar-Quiles, Maja von der Hagen, Corinne Métay, Victoria Gonzalez, Sandra Donkervoort, Brigitte Estournet

Neurology· September 2020

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Diaphragmatic dysfunction in SEPN1-related myopathy.
Serena Caggiano, Sonia Khirani, Ivana Dabaj, Eliana Cavassa, Alessandro Amaddeo, Brigitte Estournet

Neuromuscul Disord· August 2017

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Effect of Salbutamol on Respiratory Muscle Strength in Spinal Muscular Atrophy.
Sonia Khirani, Ivana Dabaj, Alessandro Amaddeo, Jorge Olmo Arroyo, Jacques Ropers, Brigitte Estournet

Pediatr Neurol· August 2017

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Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy.
David Gómez-Andrés, Ivana Dabaj, Dominique Mompoint, Karolina Hankiewicz, Viviane Azzi, Brigitte Estournet

Muscle Nerve· August 2016

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Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern.
Karolina Hankiewicz, Robert Y Carlier, Leila Lazaro, Javier Linzoain, Christine Barnerias, Brigitte Estournet

Muscle Nerve· November 2015

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Orthopedic Management of Scoliosis by Garches Brace and Spinal Fusion in SMA Type 2 Children.
Michela Catteruccia, Carole Vuillerot, Isabelle Vaugier, Danielle Leclair, Viviane Azzi, Brigitte Estournet

J Neuromuscul Dis· November 2015

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Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.
Anamaria Bolocan, Susana Quijano-Roy, Andreea M Seferian, Clarisse Baumann, Valérie Allamand, Brigitte Estournet

Neuromuscul Disord· November 2014

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Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Annie Laquérriere, Jérome Maluenda, Adrien Camus, Laura Fontenas, Klaus Dieterich, Brigitte Estournet

Hum Mol Genet· May 2014

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Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
Edoardo Malfatti, Vilma-Lotta Lehtokari, Johann Böhm, Josine M De Winter, Ursula Schäffer, Brigitte Estournet

Acta Neuropathol Commun· April 2014

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Congenital myasthenic syndromes.
Bruno Eymard, Daniel Hantaï, Brigitte Estournet

Handb Clin Neurol· March 2014

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[What a tracheostomy changes in a child with a neuromuscular disease].
Brigitte Rul, Susana Quijano-Roy, Anne Golse, Dominique Beynier, Brigitte Estournet

Rech Soins Infirm· September 2013

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The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
Klaus Dieterich, Susana Quijano-Roy, Nicole Monnier, Jie Zhou, Julien Fauré, Brigitte Estournet

Hum Mol Genet· April 2013

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Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.
Geneviève Baujat, Céline Huber, Joyce El Hokayem, Roseline Caumes, Claire Do Ngoc Thanh, Brigitte Estournet

J Med Genet· February 2013

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Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations.
Mohamed Jarraya, Susana Quijano-Roy, Nicole Monnier, Anthony Béhin, Daniela Avila-Smirnov, Brigitte Estournet

Neuromuscul Disord· October 2012

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Tracheotomy and children with spinal muscular atrophy type 1: ethical considerations in the French context.
Brigitte Rul, Franco Carnevale, Brigitte Estournet, Michèle Rudler, Christian Hervé

Nurs Ethics· May 2012

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Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.
Rabah Ben Yaou, Claire Navarro, Susana Quijano-Roy, Anne T Bertrand, Catherine Massart, Brigitte Estournet

Eur J Hum Genet· June 2011

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Riluzole pharmacokinetics in young patients with spinal muscular atrophy.
Chadi Abbara, Brigitte Estournet, Lucette Lacomblez, Benedicte Lelièvre, Amal Ouslimani

Br J Clin Pharmacol· March 2011

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Early onset collagen VI myopathies: Genetic and clinical correlations.
Laura Briñas, Pascale Richard, Susana Quijano-Roy, Corine Gartioux, Céline Ledeuil, Brigitte Estournet

Ann Neurol· October 2010

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Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.
Fatma Daoud, Nathalie Angeard, Bénédicte Demerre, Itxaso Martie, Rabah Benyaou, Brigitte Estournet

Hum Mol Genet· October 2009

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De novo LMNA mutations cause a new form of congenital muscular dystrophy.
Susana Quijano-Roy, Blaise Mbieleu, Carsten G Bönnemann, Pierre-Yves Jeannet, Jaume Colomer, Brigitte Estournet

Ann Neurol· August 2008

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Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
Nicole Monnier, Isabelle Marty, Julien Faure, Claudia Castiglioni, Claude Desnuelle, Brigitte Estournet

Hum Mutat· May 2008

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Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.
Hiroshi Manya, Céline Bouchet, Akiko Yanagisawa, Sandrine Vuillaumier-Barrot, Susana Quijano-Roy, Brigitte Estournet

Neuromuscul Disord· January 2008

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C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
Virginie Carmignac, Mustafa A M Salih, Susana Quijano-Roy, Sylvie Marchand, Molham M Al Rayess, Brigitte Estournet

Ann Neurol· April 2007

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Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.
Susana Quijano-Roy, Itxaso Martí-Carrera, Samira Makri, Michèle Mayer, Svetlana Maugenre, Brigitte Estournet

Brain Dev· May 2006

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SEPN1: associated with congenital fiber-type disproportion and insulin resistance.
Nigel F Clarke, Warren Kidson, Susana Quijano-Roy, Brigitte Estournet, Ana Ferreiro

Ann Neurol· March 2006

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