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Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials
Jordi Diaz-Manera
,
Roberto Fernandez-Torron
,
Jaume Llauger
,
Meredith K James
,
Anna Mayhew
,
et al.
Journal articles
hal-01922699v1
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Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy—analysis of registry data
Raphaël Porcher
,
Isabelle Desguerre
,
Helge Amthor
,
Brigitte Chabrol
,
Frédérique Audic
,
et al.
Journal articles
hal-03179750v1
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Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism
Stéphane Roche
,
Camille Dion
,
Natacha Broucqsault
,
Camille Laberthonnière
,
Marie-Cécile Gaillard
,
et al.
Journal articles
hal-02406985v1
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Efficacy of Rituximab in Refractory Generalized anti-AChR Myasthenia Gravis
Océane Landon-Cardinal
,
Diane Friedman
,
Marguerite Guiguet
,
Pascal Laforet
,
Nicholas Heming
,
et al.
Journal articles
hal-02377514v1
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Volume measurements of individual muscles in human quadriceps femoris using atlas-based segmentation approaches
Arnaud Le Troter
,
Alexandre Fouré
,
Maxime Guye
,
Sylviane Confort-Gouny
,
Jean-Pierre Mattei
,
et al.
Journal articles
hal-01425522v1
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Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing
Mathieu Cerino
,
Svetlana Gorokhova
,
Pascal Laforet
,
Rabah Ben Yaou
,
Emmanuelle Salort-Campana
,
et al.
Journal articles
hal-01741741v1
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[Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases].
M Humbertclaude
,
D. Hamroun
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M. Picot
,
B Bezzou
,
C. Bérard
,
et al.
Journal articles
hal-01681803v1
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High risk of cancer in autoimmune necrotizing myopathies: usefulness of myositis specific antibody
Yves Allenbach
,
Jeremy Keraen
,
Anne-Marie Bouvier
,
Valérie Jooste
,
Nicolas Champtiaux
,
et al.
Journal articles
hal-01409979v1
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Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy
Natacha Broucqsault
,
Julia Morere
,
Marie-Cécile Gaillard
,
Julie Dumonceaux
,
Julia Torrents
,
et al.
Journal articles
hal-01662672v1
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Combined quantification of fatty infiltration, T 1-relaxation times and T 2*-relaxation times in normal-appearing skeletal muscle of controls and dystrophic patients
Benjamin Leporq
,
Arnaud Le Troter
,
Yann Le Fur
,
Emmanuelle Salort-Campana
,
Maxime Guye
,
et al.
Journal articles
hal-01611586v1
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FAM111B Mutation is associated with pancreatic cancer predisposition.
Sandra Mercier
,
Sébastien Küry
,
Sophie Nahon
,
Emmanuelle Salort-Campana
,
Sébastien Barbarot
,
et al.
Journal articles
hal-02627713v1
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Refining NGS diagnosis of muscular disorders
Mathieu Cerino
,
Emmanuelle Salort-Campana
,
Svetlana Gorokhova
,
Amandine Sevy
,
Nathalie Bonello-Palot
,
et al.
Journal articles
hal-02959292v1
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Long-term follow-up of MRI changes in thigh muscles of patients with Facioscapulohumeral dystrophy: A quantitative study
Farzad Fatehi
,
Emmanuelle Salort Campana
,
Arnaud Le Troter
,
Emilie Lareau-Trudel
,
Mark Bydder
,
et al.
Journal articles
hal-01657958v1
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Novel CAPN3 variant associated with an autosomal dominant calpainopathy
Mathieu Cerino
,
Emmanuelle Salort-Campana
,
Alexandra Salvi
,
P Cintas
,
D. Renard
,
et al.
Journal articles
hal-02901906v1
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A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing
Martin Krahn
,
Valérie Biancalana
,
Mathieu Cerino
,
Aurélien Perrin
,
Laurence Michel-Calemard
,
et al.
Journal articles
hal-02434896v1
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Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study
Emmanuelle Salort Campana
,
Karine Nguyen
,
Rafaelle Bernard
,
Elisabeth Jouve
,
Guilhem Solé
,
et al.
Journal articles
hal-01610016v1
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Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing
Amandine Sevy
,
Mathieu Cerino
,
Svetlana Gorokhova
,
Eugénie Dionnet
,
Yves Mathieu
,
et al.
Journal articles
hal-01469052v1
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Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study
Celine Dogan
,
Marie de Antonio
,
Dalil Hamroun
,
Hugo Varet
,
Marianne Fabbro
,
et al.
Journal articles
hal-01274908v1
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Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention
Emmanuelle Salort-Campana
,
Farzad Fatehi
,
Sadia Beloribi-Djefaflia
,
Stéphane Roche
,
Karine Nguyen
,
et al.
Journal articles
hal-02533845v1
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Anti-Mi2 dermatomyositis revisited: pure DM phenotype with muscle fiber necrosis and high risk of malignancy
O. Landon-Cardinal
,
G. Monseau
,
Y. Schoindre
,
A. Rigolet
,
N. Champtiaux
,
et al.
Conference papers
hal-01664160v1
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Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy
Karine Nguyen
,
Natacha Broucqsault
,
Charlene Chaix
,
Stéphane Roche
,
Jérôme Robin-Ducellier
,
et al.
Journal articles
hal-02140159v1
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L’apport du peignage moléculaire pour révéler la variabilité génétique et la complexité du diagnostic moléculaire dans la dystrophie Facio-Scapulo Humérale.
Karine Nguyen
,
Francesca Puppo
,
Natacha Broucqsault
,
Stéphane Roche
,
Charlene Chaix
,
et al.
9ème édition des Assises de Génétique Humaine et Médicale, Jan 2018, Nante, France. , 2018
Poster communications
hal-01695264v1
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Exploring necrotizing autoimmune myopathies with a novel immunoassay for anti-3-hydroxy-3-methyl-glutaryl-CoA reductase autoantibodies.
Laurent Drouot
,
Yves Allenbach
,
Fabienne Jouen
,
Jean-Luc Charuel
,
Jérémie Martinet
,
et al.
Journal articles
inserm-00950634v1
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Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease
Ursula Moore
,
Heather Gordish
,
Jordi Diaz-Manera
,
Meredith K James
,
Anna G Mayhew
,
et al.
Journal articles
hal-03148942v1
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Detection of proximal conduction blocks using a triple stimulation technique improves the early diagnosis of Guillain-Barre syndrome
Amandine Sevy
,
Aude-Marie Grapperon
,
Emmanuelle Salort-Campana
,
Emilien Delmont
,
Shahram Attarian
Clinical Neurophysiology, 2018, 129 (1), pp.127-132
Journal articles
hal-02000333v1
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MOTOR UNIT NUMBER INDEX CORRELATES WITH DISABILITY IN CHARCOT-MRI FAT FRACTION OF TIBIALIS ANTERIOR MUSCLE CORRELATES WITH DISABILITY IN CHARCOT-MARIE-TOOTH DISEASE TYPE 1A
J. Bas
,
E. Delmont
,
A. Le Troter
,
F. Fatehi
,
Emmanuelle Salort-Campana
,
et al.
Journal of the Peripheral Nervous System, 2017, 22 (3), pp.241
Journal articles
hal-01741721v1
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Towards national homogenization of analyses by NGS in the diagnostic approach for myopathies
Martin Krahn
,
Mathieu Cerino
,
Emmanuelle Salort-Campana
,
Mireille Cossee
Journal articles
hal-01741729v1
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A national French consensus on gene lists for NGS-based diagnosis of myopathies
Martin Krahn
,
V. Biancalana
,
L. Michel-Calemard
,
J. Nectoux
,
F. Leturcq
,
et al.
Journal articles
hal-01741737v1
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Segregation between a frameshift SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy
Marie-Cécile Gaillard
,
Francesca Puppo
,
Stéphane Roche
,
Camille Dion
,
Emmanuelle Salort-Campana
,
et al.
13e Journée de la Société Française de Myologie, Nov 2015, Lyon, France. , 2015
Poster communications
hal-01688694v1
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An atlas based automatic segmentation of the human thigh muscles: a promising approach for muscle volume quantification in longitudinal studies
Arnaud Le Troter
,
Alexandre Fouré
,
Maxime Guye
,
Sylviane Confort-Gouny
,
Jean-Pierre Mattei
,
et al.
Annual European Congress of Rheumatology, Jun 2016, Londres, United Kingdom
Conference papers
hal-04077122v1
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