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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 of Neurology, Neurosurgery and Psychiatry, 2018, 89 (10), pp.1071-1081. ⟨10.1136/jnnp-2017-317488⟩
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.
European Heart Journal, 2021, ⟨10.1093/eurheartj/ehab054⟩
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.
Neurology Genetics, 2019, 5 (6), pp.e372. ⟨10.1212/NXG.0000000000000372⟩
Journal articles hal-02406985v1

Efficacy of Rituximab in Refractory Generalized anti-AChR Myasthenia Gravis

Océane Landon-Cardinal , Diane Friedman , Marguerite Guiguet , Pascal Laforet , Nicholas Heming , et al.
Journal of Neuromuscular Diseases, 2018, 5 (2), pp.241-249. ⟨10.3233/JND-180300⟩
Journal articles hal-02377514v1

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.
Magma (New York, N.Y.), 2016, 29 (2), pp.245--257. ⟨10.1007/s10334-016-0535-6⟩
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.
Muscle & Nerve, 2017, 56, pp.993-997. ⟨10.1002/mus.25638⟩
Journal articles hal-01741741v1

[Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases].

M Humbertclaude , D. Hamroun , M. Picot , B Bezzou , C. Bérard , et al.
Revue Neurologique, 2013, 169 (8-9), pp.583 - 594. ⟨10.1016/j.neurol.2013.04.004⟩
Journal articles hal-01681803v1

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.
Brain - A Journal of Neurology , 2016, 139 (8), pp.2131 - 2135. ⟨10.1093/brain/aww054⟩
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.
Human Molecular Genetics, 2013, 22 (20), pp.4206 - 4214. ⟨10.1093/hmg/ddt272⟩
Journal articles hal-01662672v1

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.
Magnetic Resonance Materials in Physics, Biology and Medicine, 2017, 30 (4), pp.407 - 415. ⟨10.1007/s10334-017-0616-1⟩
Journal articles hal-01611586v1

FAM111B Mutation is associated with pancreatic cancer predisposition.

Sandra Mercier , Sébastien Küry , Sophie Nahon , Emmanuelle Salort-Campana , Sébastien Barbarot , et al.
Pancreas, 2019, 48 (5), pp.e41-e42. ⟨10.1097/MPA.0000000000001303⟩
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 of Neurology, Neurosurgery and Psychiatry, 2020, jnnp-2018-319254. ⟨10.1136/jnnp-2018-319254⟩
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.
PLoS ONE, 2017, 12 (8), pp.e0183825. ⟨10.1371/journal.pone.0183825⟩
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.
Neuropathology and Applied Neurobiology, 2020, ⟨10.1111/nan.12624⟩
Journal articles hal-02901906v1

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.
European Journal of Human Genetics, 2019, 27 (3), pp.349-352. ⟨10.1038/s41431-018-0305-1⟩
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.
Orphanet Journal of Rare Diseases, 2015, 10, pp.2. ⟨10.1186/s13023-014-0218-1⟩
Journal articles hal-01610016v1

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing

Amandine Sevy , Mathieu Cerino , Svetlana Gorokhova , Eugénie Dionnet , Yves Mathieu , et al.
Journal of Neurology, Neurosurgery and Psychiatry, 2016, 87 (3), pp.340-U116. ⟨10.1136/jnnp-2014-309663⟩
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.
PLoS ONE, 2016, 11 (2), pp.e0148264. ⟨10.1371/journal.pone.0148264⟩
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.
International Journal of Molecular Sciences, 2020, 21 (6), pp.2221. ⟨10.3390/ijms21062221⟩
Journal articles hal-02533845v1

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.
22nd International Congress of the World Muscle Society, Oct 2017, Saint Malo, France. pp.S153, ⟨10.1016/j.nmd.2017.06.218⟩
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 of Medical Genetics, In press, ⟨10.1136/jmedgenet-2018-105949⟩
Journal articles hal-02140159v1

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.
Arthritis Research and Therapy, 2014, 16 (1), pp.R39. ⟨10.1186/ar4468⟩
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.
Neuromuscular Disorders, 2021, ⟨10.1016/j.nmd.2021.01.009⟩
Journal articles hal-03148942v1

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


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

Towards national homogenization of analyses by NGS in the diagnostic approach for myopathies

Martin Krahn , Mathieu Cerino , Emmanuelle Salort-Campana , Mireille Cossee
Médecine/Sciences, 2017, 33 (SI), pp.30-33. ⟨10.1051/medsci/201733s106⟩
Journal articles hal-01741729v1

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.
Neuromuscular Disorders, 2017, 27 (2), pp.S196. ⟨10.1016/j.nmd.2017.06.370⟩
Journal articles hal-01741737v1

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

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