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Stephane Roche



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SMCHD1 is involved in de novo methylation of theDUX4-encoding D4Z4 macrosatellite

Camille Dion , Stéphane Roche , Camille Laberthonnière , Natacha Broucqsault , Virginie Mariot
iScience, 2022, 25 (2), pp.103757. ⟨10.1093/nar/gkz005⟩
Journal articles hal-02002680v1
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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
International Journal of Molecular Sciences, 2020, 21 (6), pp.2221. ⟨10.3390/ijms21062221⟩
Journal articles hal-02533845v1
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Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy

Karine Nguyen , Stéphane Roche , Erwan Donal , Sylvie Odent , Jean-Christophe Eicher
Circulation: Genomic and Precision Medicine, 2019, 12 (5), pp.e002500. ⟨10.1161/CIRCGEN.119.002500⟩
Journal articles hal-02140150v1
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In Vitro Analysis of the Effects of ITER-Like Tungsten Nanoparticles: Cytotoxicity and Epigenotoxicity in BEAS-2B Cells

Chiara Uboldi , Marcos Sanles Sobrido , Elodie Bernard , Virginie Tassistro , Nathalie Herlin-Boime
Nanomaterials, 2019, From Basic Research to New Tools and Challenges for the Genotoxicity Testing of Nanomaterials, 9 (9), pp.1233. ⟨10.3390/nano9091233⟩
Journal articles hal-02352628v1
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Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy.

Marie-Cécile Gaillard , Natacha Broucqsault , Julia Morere , Camille Laberthonnière , Camille Dion
Scientific Reports, 2019, 1, ⟨10.1038/s41598-019-46861-x⟩
Journal articles hal-01951503v2
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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
Journal of Medical Genetics, In press, ⟨10.1136/jmedgenet-2018-105949⟩
Journal articles hal-02140159v1
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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
Neurology Genetics, 2019, 5 (6), pp.e372. ⟨10.1212/NXG.0000000000000372⟩
Journal articles hal-02406985v1
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Sample Pooling and Inflammation Linked to the False Selection of Biomarkers for Neurodegenerative Diseases in Top–Down Proteomics: A Pilot Study

Nicolas Molinari , Stéphane Roche , Katell Peoc’h , Laurent Tiers , Martial Séveno
Frontiers in Molecular Neuroscience, 2018, 11, pp.477. ⟨10.3389/fnmol.2018.00477⟩
Journal articles hal-02061536v1
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Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy

Karine Nguyen , Francesca Puppo , Stéphane Roche , Marie-Cécile Gaillard , Charlene Chaix
Human Mutation, 2017, 38 (10), pp.1432 - 1441. ⟨10.1002/humu.23304⟩
Journal articles hal-01614514v1
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Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

Marie-Cécile Gaillard , Francesca Puppo , Stéphane Roche , Camille Dion , Emmanuelle Campana Salort
BMC Medical Genetics, 2016, 17, pp.66. ⟨10.1186/s12881-016-0328-9⟩
Journal articles hal-01378417v1
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miRNA Expression in Control and FSHD Fetal Human Muscle Biopsies

Débora Portilho , Marcelo Ribeiro Alves , Gueorgui Kratassiouk , Stéphane Roche , Frédérique Magdinier
PLoS ONE, 2015, 10 (2), pp.e0116853. ⟨10.1371/journal.pone.0116853⟩
Journal articles hal-01219803v1
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Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy

Virginie Mariot , S. Roche , Débora Portilho , Sabrina Sacconi , Francesca Puppo
Annals of Neurology, 2015, 78 (3), pp.387-400. ⟨10.1002/ana.24446⟩
Journal articles hal-01431338v1
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Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

Marie-Cécile Gaillard , Stéphane Roche , Camille Dion , Armand Tasmadjian , Gwenaelle Bouget
Neurology, 2014, 83 (8), pp.733-742. ⟨10.1212/WNL.0000000000000708⟩
Journal articles hal-01610019v1

Proteomic consequences of expression and pathological conversion of the prion protein in inducible neuroblastoma N2a cells

Monique Provansal , Stéphane Roche , Manuela Pastore , Danielle Casanova , Maxime Belondrade
Prion, 2014, 4 (4), pp.292-301. ⟨10.4161/pri.4.4.13435⟩
Journal articles hal-03039041v1
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DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles.

Maxime Ferreboeuf , Virginie Mariot , Bettina Bessières , Alexandre Vasiljevic , Tania Attié-Bitach
Human Molecular Genetics, 2013, 23 (1), epub ahead of print. ⟨10.1093/hmg/ddt409⟩
Journal articles hal-00868855v1
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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
Human Molecular Genetics, 2013, 22 (20), pp.4206 - 4214. ⟨10.1093/hmg/ddt272⟩
Journal articles hal-01662672v1
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Comparative analysis of protein expression of three stem cell populations: models of cytokine delivery system in vivo.

Stephane Roche , Gianluca d'Ippolito , Adriana L. Gomez , Thomas Bouckenooghe , Sylvain Lehmann
International Journal of Pharmaceutics, 2013, 440 (1), pp.72-82. ⟨10.1016/j.ijpharm.2011.12.041⟩
Journal articles inserm-00802595v2
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Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy.

Nathalie Caruso , Balàzs Herberth , Marc Bartoli , Francesca Puppo , Julie Dumonceaux
PLoS Genetics, 2013, 9 (6), pp.e1003550. ⟨10.1371/journal.pgen.1003550⟩
Journal articles hal-00862092v1
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Improvement of 2D-PAGE resolution of human, porcine and canine follicular fluid: comparison of two immunodepletion columns

Somayyeh Fahiminiya , S. Roche , Nadine Gérard
Reproduction in Domestic Animals, 2012, 47 (5), pp.e67-e70. ⟨10.1111/j.1439-0531.2011.01939.x⟩
Journal articles hal-01129661v1
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Decreased sAβPPβ, Aβ38, and Aβ40 Cerebrospinal Fluid Levels in Frontotemporal Dementia.

Audrey Gabelle , S. Roche , C. Geny , K. Bennys , Pierre Labauge
Journal of Alzheimer's Disease, 2011, 26 (3), pp.553-563. ⟨10.3233/JAD-2011-110515⟩
Journal articles hal-00635931v1
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Proteomic analysis of mare follicular fluid during late follicle development

Somayyeh Fahiminiya , Valérie Labas , S. Roche , Jean-Louis Dacheux , Nadine Gérard
Proteome Science, 2011, 9:54, pp.1-19. ⟨10.1186/1477-5956-9-54⟩
Journal articles hal-01129526v1
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Correlations between soluble alpha/beta forms of amyloid precursor protein and Abeta38, 40 and 42 in human cerebrospinal fluid

Audrey Gabelle , S. Roche , Christian Geny , Karim Bennys , Pierre Labauge
Brain Research, 2010, 1357, pp.175-183. ⟨10.1016/j.brainres.2010.08.022⟩
Journal articles hal-00527806v1
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Proteomic consequences of expression and pathological conversion of the prion protein in inducible neuroblastoma N2a cells

Monique Provansal , S. Roche , M. Pastore , D. Casanova , M. Belondrade
Prion, 2010, 4 (4), pp.4, 4. ⟨10.4161/pri.4.4.13435⟩
Journal articles hal-00529322v1
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Comparative proteomic analysis of human mesenchymal and embryonic stem cells: towards the definition of a mesenchymal stem cell proteomic signature

Stéphane Roche , B. Delorme , R. Oostendorp , R. Barbet , C. Caton
Proteomics, 2009, 9 (2), pp.223-232. ⟨10.1002/pmic.200800035⟩
Journal articles hal-00357170v1
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Depletion of one, six, twelve or twenty major blood proteins before proteomic analysis: the more the better?

Stéphane Roche , Laurent Tiers , Monique Provansal , Martial Séveno , Marie-Thérèse Piva
Journal of Proteomics, 2009, 72 (6), pp.945-951. ⟨10.1016/j.jprot.2009.03.008⟩
Journal articles hal-00410072v1
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Les marqueurs biologiques protéiques du liquide céphalorachidien : caractéristiques et implications cliniques dans les démences

Audrey Gabelle , S. Roche , Sylvain Lehmann
Revue Neurologique, 2009, 165 (3), pp.213-222. ⟨10.1016/j.neurol.2008.05.004⟩
Journal articles hal-00409885v1
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Preanalytical guidelines for clinical proteomics investigation of biological fluids

Sylvain Lehmann , S. Roche , Y. Allory , A. Barthelaix , J.-L. Beaudeux
Annales de Biologie Clinique, 2009, 67 (6), pp.629-639. ⟨10.1684/abc.2009.0374⟩
Journal articles hal-00444355v1
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Clinical proteomics of the cerebrospinal fluid: Towards the discovery of new biomarkers

Stéphane Roche , Audrey Gabelle , Sylvain Lehmann
PROTEOMICS - Clinical Applications, 2008, 2 (3), pp.428 - 436. ⟨10.1002/prca.200780040⟩
Journal articles hal-01662796v1
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Auto-antibody profiling on high-density protein microarrays for biomarker discovery in the cerebrospinal-fluid.

Stéphane Roche , Yves Dauvilliers , Laurent Tiers , Carine Couderc , Marie-Thérèse Piva
Journal of Immunological Methods, 2008, 338 (1-2), pp.75-78. ⟨10.1016/j.jim.2008.07.002⟩
Journal articles hal-00323778v1
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Identification of apolipoprotein C-III as a potential plasmatic biomarker associated with the resolution of hepatitis C virus infection

Sonia Molina , Dorothée Missé , Stéphane Roche , Stéphanie Badiou , Jean-Paul Cristol
PROTEOMICS - Clinical Applications, 2008, 2 (5), pp.751 - 761. ⟨10.1002/prca.200800020⟩
Journal articles hal-01662783v1
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Homologous Recombination is Involved in the Repair Response of Mammalian Cells to Low Doses of Tritium

Yannick Saintigny , Stéphane Roche , Delphine Meynard , Bernard S Lopez
Radiation Research, 2008, 170 (2), pp.172-183. ⟨10.1667/RR1089.1⟩
Journal articles hal-01621200v1
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Cell specific differences between human adipose derived- and mesenchymal- stromal cells despite similar differentiation potentials.

Danièle Noël , David Caton , S. Roche , Claire Bony , Sylvain Lehmann
Experimental Cell Research, 2008, 314 (7), pp.1575-1584. ⟨10.1016/j.yexcr.2007.12.022⟩
Journal articles hal-00275173v1
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Functional, Molecular and Proteomic Characterization of Bone Marrow Mesenchymal Stem Cells in Rheumatoid Arthritis

M. Kastrinaki , P. Sidiropoulos , S. Roche , J. Ringe , Sylvain Lehmann
Annals of the Rheumatic Diseases, 2008, 67 (6), pp.741-749. ⟨10.1136/ard.2007.076174⟩
Journal articles hal-00287919v1
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Comparison between surface and bead based MALDI profiling technologies using a single bioinformatics algorithm

C. Reynes , Stephane Roche , Laurent Tiers , Rodolphe Sabatier , P. Jouin
Clinical Proteomics, 2007, 2, pp.145-152. ⟨10.1007/BF02752497⟩
Journal articles hal-00291842v1
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Oct-4, Rex-1, and Gata-4 expression in human MSC increase the differentiation efficiency but not hTERT expression.

Stéphane Roche , Marie-Jeanne Richard , Marie-Christine Favrot
Journal of Cellular Biochemistry, 2007, 101 (2), pp.271-80. ⟨10.1002/jcb.21185⟩
Journal articles inserm-00312819v1
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Présent et futur de la Protéomique clinique

Sylvain Lehmann , A. Dupuy , K. Peoc'H , Stephane Roche , B. Baudin
Annales de Biologie Clinique, 2007, 65 (5), pp.463-471. ⟨10.1684/abc.2007.0149⟩
Journal articles hal-00179241v1
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Interest of major serum protein removal for Surface-Enhanced Laser Desorption/Ionization - Time Of Flight (SELDI-TOF) proteomic blood profiling.

S. Roche , Laurent Tiers , Monique Provansal , Marie-Thérèse Piva , Sylvain Lehmann
Proteome Science, 2006, 4 (1), pp.20. ⟨10.1186/1477-5956-4-20⟩
Journal articles hal-00113437v1
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Proteomics of primary mesenchymal stem cells

Stéphane Roche , M. Provansal , L. Tiers , C. Jorgensen , S. Lehmann
Regenerative Medicine, 2006, 1 (4), pp.511 - 517. ⟨10.2217/17460751.1.4.511⟩
Journal articles hal-01919376v1
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Ascorbate modulation of bovine chondrocyte growth, matrix protein gene expression and synthesis in three-dimensional collagen sponges.

Marie-Claire Ronzière , Stéphane Roche , Jérome Gouttenoire , Olivier Demarteau , Daniel Herbage
Biomaterials, 2003, 24, pp.851-861. ⟨10.1016/S0142-9612(02)00418-0⟩
Journal articles hal-00313309v1
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Native and DPPA cross-linked collagen sponges seeded with fetal bovine epiphyseal chondrocytes used for cartilage tissue engineering.

Stéphane Roche , Marie-Claire Ronzière , Daniel Herbage , Anne-Marie Freyria
Biomaterials, 2001, 22, pp.9-18. ⟨10.1016/S0142-9612(00)00084-3⟩
Journal articles hal-00313313v1
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Regulation of growth, protein synthesis, and maturation of fetal bovine epiphyseal chondrocytes grown in high-density culture in the presence of ascorbic acid, retinoic acid, and dihydrocytochalasin B.

Anne-Marie Freyria , Marie-Claire Ronzière , S. Roche , Cécile F. Rousseau , Daniel Herbage
Journal of Cellular Biochemistry, 1999, 76 (1), pp.84-98. ⟨10.1002/(SICI)1097-4644(20000101)76:1<84::AID-JCB9>3.0.CO;2-Z⟩
Journal articles hal-00313321v1

Automated brain QSM computation pipeline deployed in the European Open Science Cloud

Miguel Guevara , Davy Cam , Jacques Badagbon , Stéphane Roche , Michel Bottlaender
ISMRM & ISMRT Annual Meeting & Exhibition, Jun 2023, Toronto, Canada
Conference papers hal-04127197v1

Common Workflow Language & European Open Science Cloud pour l’implémentation de l’imagerie Quantitative de Susceptibilité Magnétique (QSM) du cerveau.

Miguel Guevara , Davy Cam , Jacques Badagbon , Stéphane Roche , Michel Bottlaender
6e congrès de la Société Française de Résonance Magnétique en Biologie et Médecine, Mar 2023, Paris, France
Conference papers hal-04143916v1

Définition de la normalité du fer intracérébral par IRM/QSM pour le diagnostic des maladies neurodégénératives

Miguel Guevara , Stéphane Roche , Davy Cam , Jacques Badagbon , Michel Bottlaender
Journées Francophones de Radiologie 2023, Marc ZINS, Oct 2023, Paris, France
Conference papers hal-04271807v1
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Modification of 4q35 and muscular gene expression in fetuses carrying a shortened D4Z4 array linked to FSHD

Natacha Broucqsault , Stéphane Roche , Julia Morere , Marie-Cécile Gaillard , Nicolas Levy
18th International Congress of The World Muscle Society, Oct 2013, Pacific Grove, CA, United States. pp.824, ⟨10.1016/j.nmd.2013.06.643⟩
Conference papers hal-01907599v1
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DUX 4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

M Ferreboeuf , V. Mariot , B. Bessières , A Vasiljevic , Tania Attié-Bitach
18th International Congress of The World Muscle Society, Oct 2013, Pacific Grove, CA, United States. pp.823, ⟨10.1016/j.nmd.2013.06.640⟩
Conference papers hal-01907613v1
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Apport de la tomographie par émission monophotonique de perfusion dans le diagnostic étiologique des démences : Confrontations cliniques, tomographiques et neuropathologiques

S Lehmann , A Gabelle , Stéphane Roche , E Thouvenot , K Peoc'H
10e Réunion Francophone sur la Maladie d'Alzheimer et les syndromes apparentés, Oct 2009, Nantes, France. pp.70-71
Conference papers hal-01908628v1
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les corrélats neuronaux de l'acquisition et de la consolidation dans la maladie d'alzheimer et l'altération cognitive légère

A. Gabelle , Stéphane Roche , C. Gény , J. Touchon , S. Lehmann
10e Réunion francophone sur la maladie d’Alzheimer et les syndromes apparentés, Oct 2009, Nantes, France. pp.65 - 75
Conference papers hal-01908635v1


Audrey Gabelle , Stéphane Roche , C. Gény , F. Portet , J. Touchon
1st Conference Clinical Trials on Alzheimer’s Disease, Sep 2008, Montpellier, France. pp.531
Conference papers hal-01907406v1

Genetic spectrum of hypertrophic cardiomyopathy revisited. Whole Exome Sequencing reveals extreme genetic heterogeneity and new gene mutations in a multicenter series of 200 patients

Karine Nguyen , Stéphane Roche , C L Lavoute , P R Reant , E D Donal
ESC Congress 2018, Aug 2018, Munich, Germany. Oxford University Press, 39 (suppl_1), 2018, European Heart Journal
Conference poster hal-01908612v1

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
9ème édition des Assises de Génétique Humaine et Médicale, Jan 2018, Nante, France. , 2018
Conference poster hal-01695264v1

DNA Methylation-based diagnosis of Facio Scapulo Humeral Dystrophy

Marie-Cécile Gaillard , Camille Dion , Francesca Puppo , Marc Bartoli , Karine N'Guyen
EMBO Conference - Chromatine and Epigenetics, May 2015, Heidelberg, Germany
Conference poster hal-01676426v1

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
13e Journée de la Société Française de Myologie, Nov 2015, Lyon, France. , 2015
Conference poster hal-01688694v1


Cherif Badja , Marie-Cécile Gaillard , Claire El-Yazidi , Marc Bartoli , Stéphane Roche
International Society For Stem Cell Research - Annual Meeting, Jun 2015, Stockholm, Sweden.
Conference poster hal-01676453v1

3D nuclear topology dynamics of the 4q35 subtelomeric region linked to Facio-Scapulo-Humeral Dystrophy in skeletal muscle cells and hiPSC

Camille Dion , Marie-Cécile Gaillard , Arnaud Lagarde , Cherif Badja , Armand Tasmadjian
EMBO Conference - Chromatin and Epigenetics, May 2015, Heidelberg, Germany
Conference poster hal-01675614v1

Analyses de profils épigénétiques dans la dystrophie facio-scapulo-humérale : de la méthylation de l’ADN vers des corrélations génotype-phénotype

Marie-Cécile Gaillard , Natacha Broucqsault , C Chaix , C Vovan , Stéphane Roche
Xeme Journées Annuelles de la Société Francaise de Myologie & Colloque de Myogenèse, Nov 2012, Grenoble, France. , 2012
Conference poster hal-01688662v1