LEVY Nicolas : Génétique Médicale et Génomique Fonctionnelle

Unité de Recherche. Génétique médicale et génomique fonctionnelle (GMGF) Mise à jour : janvier 2015

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UNITÉ DE RECHERCHE UMR S 910

Génétique médicale et génomique fonctionnelle (GMGF)

DIRECTEUR : LEVY Nicolas ADRESSE : Faculté de Médecine Site Timone TELEPHONE : 04-91-32-43-86 et 04-91-32-49-01 et 04-91-32-44-03

COURRIEL : [email protected]

[email protected] [email protected] [email protected]

SITE WEB : http://umr910.timone.univ-mrs.fr ECOLE DOCTORALE : Sciences de la Vie et de la Santé (ED 062) RATTACHEMENTS : AMU (DGG AMU) INSERM POLES HOSPITALIERS :

2 – Gynépôle Marseille (Intersites) 6 - Neurosciences Cliniques (Intersites) 13 - Pédiatrie Médico-Chirurgicale (Intersites)

16 - Cardio-Vasculaire-Thoracique (Intersites) 18 - biologie (Intersites) 28 – DACCORD (Intersites)

DISCIPLINES D’APPARTENANCES : DS 5 - Biologie, médecine, santé SPECIALITÉS : Génétique RESPONSABLE ADMISNITRATIF UNITE : MOREAU Rodolphe

GESTIONNAIRES UNITÉ : BES Evelyne – VALENTIN Evelyne – NAUDON Frédéric

mailto:[email protected]





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EFFECTIFS 120

Enseignants-Chercheurs : 30

Chercheurs EPST : 15 Autres chercheurs : 13 BIATSS/ITA : 42

Doctorants : 20

PERSONNELS IMPLIQUÉS DANS LA RECHERCHE

ABIDI Affef 04 91 32 49 24 Equipe 1, L. VILLARD Doctorant - AMU ALAM / CHOUCAIR Nancy Equipe 1, L. VILLARD Doctorant - AMU ALCARAZ / DAHAN Laetitia 04 91 32 49 23 Equipe 8, C. BEROUD MCU-PH - APHM / AMU ALCARAZ Gisèle 04 91 32 49 23 Equipe 1, L. VILLARD CR1 - INSERM ASSOUM Mirna 04 91 32 50 02 Equipe 5, V. DELAGUE Post-Doc - INSERM ATTARIAN Shahram Equipe 3, BARTOLI/KRAHN PU-PH - APHM / AMU ATTARIAN Shahram 04 91 32 49 45 Equipe 5, V. DELAGUE PU-PH - APHM / AMU AUGUSTE Yasmina Equipe 2, N. LEVY Master 2 - AMU AVIERINOS Jean-François 04 91 38 63 77 Equipe 4, S. ZAFFRAN PU-PH - APHM / AMU BACQUERRE Camille Equipe 2, N. LEVY Master 2 - AMU BADENS Catherine 04 91 32 49 25 Equipe 2, N. LEVY PU-PH - APHM / AMU BADJA Cherif 04 91 32 48 99 Equipe 6, F. MAGDINIER Doctorant - AMU BARRE Laura Equipe 8, C. BEROUD TC – AMU BARTHELEMY Florian 04 91 32 50 02 Equipe 3, BARTOLI/KRAHN Doctorant - AMU BARTOLI Catherine 04 91 32 49 30 Equipe 2, N. LEVY AI – AMU BARTOLI Marc 04 91 32 49 06 Equipe 3, BARTOLI/KRAHN CR1 - CNRS

BERNARD Rafaëlle 04 91 38 77 87 Equipe 5, V. DELAGUE MCU-PH - APHM / AMU BEROUD Christophe 04 91 32 44 88 Equipe 8, C. BEROUD PU-PH - APHM / AMU BERTAUX Karine Service Commun IGR - APHM BERTRAND Nicolas 04 91 32 41 55 Equipe 4, S. ZAFFRAN MCU - AMU BES Evelyne 04 91 32 49 01 Service Commun TC - INSERM BINETRUY Bernard 04 91 32 48 86 Equipe 7, B. BINETRUY DR2 - INSERM BINETRUY Bernard 04 91 32 48 86 Service Commun DR2 - INSERM BLANCHARD Arnaud 04 91 32 48 84 Equipe 8, C. BEROUD Post-Doc - AMU BLANCHI Bruno Equipe 9, M. PUCEAT Post-Doc - Privé BLANDIN Gaëlle 04 91 32 48 82 Equipe 8, C. BEROUD IR – PVM BONELLO-PALOT Nathalie 04 91 32 49 25 Equipe 2, N. LEVY PH - APHM BORGES Ana 04 91 32 49 24 Equipe 1, L. VILLARD AI – AMU BOUQUET Christiane Service Commun ADT - AMU BOURGEOIS Patrice 04 91 38 77 55 Equipe 2, N. LEVY IR - APHM BOURGEOIS Patrice 04 91 38 77 55 Service Commun IE - APHM BROUCQSAULT Natacha 04 91 32 48 99 Equipe 6, F. MAGDINIER Doctorant - AMU CACCIAGLI Pierre 04 91 32 49 23 Equipe 1, L. VILLARD TRN - APHM CARLIER Pascal 04 91 32 44 89 Service Commun MCU - AMU CASTRO Christel 04 91 32 50 02 Service Commun TRN - INSERM CAU Pierre 04 91 32 43 85 Equipe 2, N. LEVY PU-PH - APHM / AMU CAU Pierre 04 91 32 43 85 Service Commun PU-PH - APHM / AMU CHABROL Brigitte 04 91 38 68 13 Equipe 3, BARTOLI/KRAHN PU-PH - APHM / AMU CHABROL Brigitte 04 91 38 68 13 Equipe 5, V. DELAGUE PU-PH - APHM / AMU CHAPOTON Marie 04 91 32 49 07 Equipe 3, BARTOLI/KRAHN AI - AMU) CHENU Caroline Equipe 4, S. ZAFFRAN CCA/Doctorant - AMU COLLOD-BERROUD Gwenaëlle 04 91 32 49 14 Equipe 8, C. BEROUD CR1 - INSERM COMPAGNONE Marion Equipe 8, C. BEROUD IE - Privé COURRIER Sébastien 04 91 32 49 07 Equipe 3, BARTOLI/KRAHN AI - AMU DA SILVA Nathalie 04 91 32 49 19 Equipe 2, N. LEVY AI - AMU DE SANDRE-GIOVANNOLI Annachiara 04 91 32 43 19 Equipe 2, N. LEVY PH - APHM DELAGUE Valérie 04 91 32 49 18 Equipe 5, V. DELAGUE CR1 - INSERM DEPETRIS Danielle 04 91 32 49 20 Equipe 5, V. DELAGUE IE1 - INSERM DESVIGNES Jean-Pierre 04 91 32 49 45 Equipe 8, C. BEROUD IGE - CDD AMU (AFM)


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DING Shunli Equipe 9, M. PUCEAT Post-Doc - INSERM

DION Camille 04 91 32 Equipe 6, F. MAGDINIER Masters 2 - AMU DIONNET Eugénie Equipe 3, BARTOLI/KRAHN Doctorant - AMU EL BAZZAL Lara Equipe 5, V. DELAGUE Masters 2 - AMU EL KHATIB Razan Equipe 2, N. LEVY Master 2 - AMU EL KHOURY Rita 04 91 32 49 24 Equipe 1, L. VILLARD Doctorant - PVM EL ROBRINI Nicolas 04 91 32 49 37 Equipe 4, S. ZAFFRAN Doctorant - AMU EL YAZIDI/ MARTIN Claire 04 91 32 48 89 Equipe 7, B. BINETRUY TCE - INSERM ESTEVE Clotilde 04 91 32 50 02 Equipe 5, V. DELAGUE Doctorant - AMU ETCHEVERS Heather 04 91 32 49 37 Equipe 4, S. ZAFFRAN CR1 - INSERM EUDES / LEONCE Nathalie 04 91 32 45 64 Equipe 4, S. ZAFFRAN AI - AMU FABRE Aurélie Equipe 8, C. BEROUD IR - APHM FAURE Emilie 04 91 32 49 37 Equipe 4, S. ZAFFRAN Post-Doc - AMU FAYEK Racha 04 91 32 50 02 Equipe 2, N. LEVY Doctorant - INSERM GAILLARD Marie-Cécile 04 91 32 48 99 Equipe 6, F. MAGDINIER Doctorant - AMU GHATA / SPIGA Adeline 04 91 32 49 24 Equipe 1, L. VILLARD AI - INSERM GRANDVAL Philippe Equipe 8, C. BEROUD PH - APHM GUIEN Céline 04 91 32 48 82 Equipe 8, C. BEROUD IE - AMU HIRIART Emilye Equipe 9, M. PUCEAT Doctorant - Université d’Evry JEBENIARI Imen Equipe 9, M. PUCEAT Doctorant - AMU KASPI / PEZZOLI Elise 04 91 32 49 34 Equipe 2, N. LEVY AHU - APHM / AMU KERGOURLAY Virginie 04 91 32 50 02 Equipe 3, BARTOLI/KRAHN Doctorant - AMU KRAHN Martin 04 91 32 49 40 Equipe 3, BARTOLI/KRAHN MCU-PH - APHM / AMU KREITMAN Bernard Equipe 4, S. ZAFFRAN PU-PH - APHM / AMU LABUCHE Stella Equipe 5, V. DELAGUE Masters 2 - AMU LAFOREST Brigitte Equipe 4, S. ZAFFRAN Post-Doc - AMU LAGARDE Arnaud Equipe 8, C. BEROUD IR - APHM LAIBE Sophy Equipe 8, C. BEROUD PH - IPC LASSERRE Manon 04 91 32 Equipe 6, F. MAGDINIER Masters 2 - AMU LEVY Nicolas 04 91 32 49 01 Equipe 2, N. LEVY PU-PH - APHM / AMU LOMBARD / PONTOU Elise Equipe 2, N. LEVY MCU-PH - APHM / AMU LONGEPIED Guy 04 91 32 49 30 Equipe 2, M. MITCHELL AI - INSERM LOUIS Laurence 04 91 32 48 87 Service Commun IGE - AMU MAGDINIER Frédérique 04 91 32 49 08 Equipe 6, F. MAGDINIER DR2 - INSERM MATAGNE Valérie 04 91 32 49 24 Equipe 1, L. VILLARD Post-doc - AMU MATHIEU Yves Equipe 3, BARTOLI/KRAHN Post-Doc - AMU MAUES DE PAULA André Equipe 3, BARTOLI/KRAHN AHU - APHM / AMU MEGARBANE André 04 91 78 68 94 Equipe 5, V. DELAGUE PU-PH - APHM / AMU MERONO Françoise 04 91 32 44 31 Equipe 2, N. LEVY TRN - AMU METZLER-GUILLEMAIN Catherine 04 91 32 49 09 Equipe 2, M. MITCHELL MCU-PH - APHM / AMU MIGNON-RAVIX Cécile 04 91 32 49 23 Equipe 1, L. VILLARD IE – AMU MILH Mathieu 04 91 38 68 13 Equipe 1, L. VILLARD PH - APHM MILTGEN Morgane 04 91 32 48 85 Equipe 8, C. BEROUD Doctorant - AMU MITCHELL Julia Equipe 4, S. ZAFFRAN Masters 2 - AMU MITCHELL Michaël INSERM Equipe 2, M. MITCHELL DR1 - INSERM MONDOLONI Maxime Equipe 2, N. LEVY Master 2 - AMU

MOORE-MORRIS Thomas Equipe 9, M. PUCEAT Post-Doc - INSERM MOREAU Rodolphe 04 91 32 49 31 Service Commun IE – AMU NAUDON Frédéric 04 91 32 43 86 Service Commun TC – AMU NAVARRO Claire 04 91 32 48 97 Equipe 2, N. LEVY Post-Doc - INSERM NGUYEN Karine 04 91 32 48 98 Equipe 6, F. MAGDINIER MCU-PH - APHM ODELIN Gaëlle 04 91 32 49 37 Equipe 4, S. ZAFFRAN Doctorant - INSERM OLSCHWANG Sylviane 04 91 32 48 84 Equipe 8, C. BEROUD DR2 - INSERM PALACIN Camille Equipe 8, C. BEROUD Masters 2 - AMU PAPOUTSI Tania 04 91 32 49 36 Equipe 4, S. ZAFFRAN Post-Doc - AMU PERRIN Sophie 04 91 32 49 34 Equipe 2, N. LEVY Doctorant - AMU PINARD Amélie 04 91 32 49 45 Equipe 4, S. ZAFFRAN Doctorant - AMU PINARD Amélie 04 91 32 48 85 Equipe 8, C. BEROUD Doctorant - AMU POUGET Jean 04 91 38 65 79 Equipe 3, BARTOLI/KRAHN PU-PH - APHM / AMU POUGET Jean 04 91 38 65 79 Equipe 5, V. DELAGUE PU-PH - APHM / AMU PUCEAT Michel Equipe 9, M. PUCEAT DR1 - INSERM PUPPO Francesca 04 91 32 49 07 Equipe 3, BARTOLI/KRAHN Post-Doc - AMU RABARIMERIARIJAONA Sitraka 04 91 32 49 02 Equipe 5, V. DELAGUE Doctorant - AMU RAI Ghadi 04 91 32 49 45 Equipe 8, C. BEROUD Doctorant - PVM ROBAGLIA-SCHLUPP Andrée 04 91 32 49 34 Service Commun MCU-PH - APHM / AMU ROCHE Stéphane 04 91 32 49 16 Equipe 6, F. MAGDINIER Post-Doc - AMU ROECKEL-TREVISIOL Nathalie 04 91 32 49 41 Service Commun TR - INSERM ROLL Patrice 04 91 32 49 39 Equipe 2, N. LEVY MCU-PH - APHM / AMU ROUBERTOUX Pierre 04 91 32 46 56 Equipe 1, L. VILLARD PU – AMU ROUBERTOUX Pierre 04 91 32 45 64 Service Commun PU – AMU ROUX Jean-Christophe 04 91 32 49 04 Equipe 1, L. VILLARD CR1 - INSERM ROUX Jean-Christophe 04 91 32 49 04 Service Commun CR1 - INSERM ROUX Marine 04 91 32 49 37 Equipe 4, S. ZAFFRAN Doctorant - AMU


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SALGADO David 04 91 32 48 84 Equipe 8, C. BEROUD IR – PVM

SALORT-CAMPANA Emmanuelle Equipe 3, BARTOLI/KRAHN PH - APHM SARLES-PHILIP Nicole Equipe 1, L. VILLARD PU-PH - APHM - AMU SCAJOLA Christophe 04 91 32 49 10 Service Commun ADT - AMU SIBERTIN / BLANC Camille Equipe 8, C. BEROUD Masters 2 - APHM SIGAUDY Sabine 04 91 38 66 33 Equipe 2, N. LEVY PH - APHM STREICHEMBERGER Eric 04 91 32 49 09 Equipe 2, M. MITCHELL Doctorant - AMU SUTERA-SARDO Julie 04 91 32 49 24 Equipe 1, L. VILLARD TCH - APHM TASMADJIAN Armand 04 91 32 49 16 Equipe 6, F. MAGDINIER TR - INSERM THOMAS Morgane Equipe 7, B. BINETRUY IGE – AMU TROPEL Philippe 04 91 32 48 89 Equipe 6, F. MAGDINIER IR – AMU VALENTIN Evelyne 04 91 32 44 03 Service Commun ADT1 - AMU VANDEVELDE Amelle Equipe 7, B. BINETRUY Masters 2 - AMU VILLARD Laurent 04 91 32 49 03 Equipe 1, L. VILLARD DR2 - INSERM ZAFFRAN Stéphane 04 91 32 49 36 Equipe 4, S. ZAFFRAN DR2 - INSERM

PERSONNELS AVEC HDR

ATTARIAN Shahram PU-PH AVIERINOS Jean-François PU-PH BADENS Catherine PU-PH

BARTOLI Marc CR CNRS BEROUD Christophe MCU-PH BINETRUY Bernard DR INSERM CAU Pierre PU-PH CHABROL Brigitte PU-PH COLLOD-BEROUD Gwenaelle CR INSERM

DELAGUE Valérie CR INSERM ETCHEVERS Heather CR INSERM KREITMANN Bernard PU-PH LEVY Nicolas PU-PH AP-HM MAGDINIER Frédérique CR INSERM

MITCHELL Michael DR INSERM OLSCHWANG Sylviane DR INSERM

PHILIP Nicole PU-PH POUGET Jean PU-PH ROLL Patrice MCU-PH ROUBERTOUX Pierre PU ROUX Jean-Christophe CR INSERM VILLARD Laurent DR INSERM ZAFFRAN Stéphane DR INSERM

EQUIPES DE RECHERCHE et THEMATIQUES

EQUIPE : E1 - Neurogénétique humaine

RESPONSABLE : VILLARD Laurent

THEMATIQUE : Génétique Moléculaire. Physiologie cellulaire. Neurobiologie. Thérapie EQUIPE : E2 - Génétique des maladies neuromusculaires et des laminopathies RESPONSABLE : LEVY Nicolas THEMATIQUE : Génétique Moléculaire. Laminopathies. Thérapie. Vieillissement EQUIPE : E3 - Myologie Translationnelle

RESPONSABLE : BARTOLI Marc KRAHN Martin THEMATIQUE : Dystrophies musculaires. Thérapie. Physiopathologie. Identification de gènes/Criblage mutationnel à haut début


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EQUIPE : E4 - Génétique et développement des malformations cardiaques

RESPONSABLE : ZAFFRAN Stéphane THEMATIQUE : Biologie du développement. Génétique moléculaire. Cardiologie

EQUIPE : E5 - Génétique et physiopathologie des maladies neurologiques héréditaires à transmission autosomique récessive RESPONSABLE : DELAGUE Valérie

THEMATIQUE : Maladies de Charcot-Marie-Tooth. Leucodystrophies. Ataxies cérébelleuses. Autres maladies neurologiques à transmission autosomique EQUIPE : E6 - Epigénétique, chromatine et maladies RESPONSABLE : MAGDINIER Frédérique THEMATIQUE : Epigénétique. Chromatine. Télomères

EQUIPE : E7 - Cellules Souches et iPS RESPONSABLE : BINETRUY Bernard THEMATIQUE : Cellules souches. iPS EQUIPE : E8 - Bioinformatique et génétique

RESPONSABLE : BEROUD Christophe THEMATIQUE : Génétique. Bioinformatique. Dystonies de développement. Bases de données

EQUIPE : E9 - Physiopathologie du développement cardiaque RESPONSABLE : PUCEAT Michel THEMATIQUE : Biologie du développement. Génétique moléculaire. Cardiologie

PERSONNELS PAR EQUIPE DE RECHERCHE

ABIDI Affef 04 91 32 49 24 Equipe 1, L. VILLARD Doctorant - AMU ALAM / CHOUCAIR Nancy Equipe 1, L. VILLARD Doctorant - AMU ALCARAZ Gisèle 04 91 32 49 23 Equipe 1, L. VILLARD CR1 - INSERM BORGES Ana 04 91 32 49 24 Equipe 1, L. VILLARD AI – AMU CACCIAGLI Pierre 04 91 32 49 23 Equipe 1, L. VILLARD TRN - APHM EL KHOURY Rita 04 91 32 49 24 Equipe 1, L. VILLARD Doctorant - PVM GHATA / SPIGA Adeline 04 91 32 49 24 Equipe 1, L. VILLARD AI - INSERM MATAGNE Valérie 04 91 32 49 24 Equipe 1, L. VILLARD Post-doc - AMU MIGNON-RAVIX Cécile 04 91 32 49 23 Equipe 1, L. VILLARD IE – AMU MILH Mathieu 04 91 38 68 13 Equipe 1, L. VILLARD PH - APHM ROUBERTOUX Pierre 04 91 32 46 56 Equipe 1, L. VILLARD PU – AMU ROUX Jean-Christophe 04 91 32 49 04 Equipe 1, L. VILLARD CR1 - INSERM SARLES-PHILIP Nicole Equipe 1, L. VILLARD PU-PH - APHM - AMU SUTERA-SARDO Julie 04 91 32 49 24 Equipe 1, L. VILLARD TCH - APHM VILLARD Laurent 04 91 32 49 03 Equipe 1, L. VILLARD DR2 - INSERM

AUGUSTE Yasmina Equipe 2, N. LEVY Master 2 - AMU BACQUERRE Camille Equipe 2, N. LEVY Master 2 - AMU BADENS Catherine 04 91 32 49 25 Equipe 2, N. LEVY PU-PH - APHM / AMU BARTOLI Catherine 04 91 32 49 30 Equipe 2, N. LEVY AI – AMU BONELLO-PALOT Nathalie 04 91 32 49 25 Equipe 2, N. LEVY PH - APHM BOURGEOIS Patrice 04 91 38 77 55 Equipe 2, N. LEVY IR - APHM CAU Pierre 04 91 32 43 85 Equipe 2, N. LEVY PU-PH - APHM / AMU DA SILVA Nathalie 04 91 32 49 19 Equipe 2, N. LEVY AI - AMU DE SANDRE-GIOVANNOLI Annachiara 04 91 32 43 19 Equipe 2, N. LEVY PH - APHM EL KHATIB Razan Equipe 2, N. LEVY Master 2 - AMU FAYEK Racha 04 91 32 50 02 Equipe 2, N. LEVY Doctorant - INSERM KASPI / PEZZOLI Elise 04 91 32 49 34 Equipe 2, N. LEVY AHU - APHM / AMU LEVY Nicolas 04 91 32 49 01 Equipe 2, N. LEVY PU-PH - APHM / AMU LOMBARD / PONTOU Elise Equipe 2, N. LEVY MCU-PH - APHM / AMU LONGEPIED Guy 04 91 32 49 30 Equipe 2, M. MITCHELL AI - INSERM MERONO Françoise 04 91 32 44 31 Equipe 2, N. LEVY TRN - AMU METZLER-GUILLEMAIN Catherine 04 91 32 49 09 Equipe 2, M. MITCHELL MCU-PH - APHM / AMU MITCHELL Michaël INSERM Equipe 2, M. MITCHELL DR1 - INSERM MONDOLONI Maxime Equipe 2, N. LEVY Master 2 - AMU NAVARRO Claire 04 91 32 48 97 Equipe 2, N. LEVY Post-Doc - INSERM

PERRIN Sophie 04 91 32 49 34 Equipe 2, N. LEVY Doctorant - AMU ROLL Patrice 04 91 32 49 39 Equipe 2, N. LEVY MCU-PH - APHM / AMU SIGAUDY Sabine 04 91 38 66 33 Equipe 2, N. LEVY PH - APHM STREICHEMBERGER Eric 04 91 32 49 09 Equipe 2, M. MITCHELL Doctorant - AMU


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ATTARIAN Shahram Equipe 3, BARTOLI/KRAHN PU-PH - APHM / AMU BARTHELEMY Florian 04 91 32 50 02 Equipe 3, BARTOLI/KRAHN Doctorant - AMU BARTOLI Marc 04 91 32 49 06 Equipe 3, BARTOLI/KRAHN CR1 - CNRS CHABROL Brigitte 04 91 38 68 13 Equipe 3, BARTOLI/KRAHN PU-PH - APHM / AMU CHAPOTON Marie 04 91 32 49 07 Equipe 3, BARTOLI/KRAHN AI - AMU) COURRIER Sébastien 04 91 32 49 07 Equipe 3, BARTOLI/KRAHN AI - AMU DIONNET Eugénie Equipe 3, BARTOLI/KRAHN Doctorant - AMU KERGOURLAY Virginie 04 91 32 50 02 Equipe 3, BARTOLI/KRAHN Doctorant - AMU KRAHN Martin 04 91 32 49 40 Equipe 3, BARTOLI/KRAHN MCU-PH - APHM / AMU MATHIEU Yves Equipe 3, BARTOLI/KRAHN Post-Doc - AMU MAUES DE PAULA André Equipe 3, BARTOLI/KRAHN AHU - APHM / AMU POUGET Jean 04 91 38 65 79 Equipe 3, BARTOLI/KRAHN PU-PH - APHM / AMU PUPPO Francesca 04 91 32 49 07 Equipe 3, BARTOLI/KRAHN Post-Doc - AMU SALORT-CAMPANA Emmanuelle Equipe 3, BARTOLI/KRAHN PH - APHM

AVIERINOS Jean-François 04 91 38 63 77 Equipe 4, S. ZAFFRAN PU-PH - APHM / AMU BERTRAND Nicolas 04 91 32 41 55 Equipe 4, S. ZAFFRAN MCU - AMU CHENU Caroline Equipe 4, S. ZAFFRAN CCA/Doctorant - AMU EL ROBRINI Nicolas 04 91 32 49 37 Equipe 4, S. ZAFFRAN Doctorant - AMU ETCHEVERS Heather 04 91 32 49 37 Equipe 4, S. ZAFFRAN CR1 - INSERM EUDES / LEONCE Nathalie 04 91 32 45 64 Equipe 4, S. ZAFFRAN AI - AMU

FAURE Emilie 04 91 32 49 37 Equipe 4, S. ZAFFRAN Post-Doc - AMU KREITMAN Bernard Equipe 4, S. ZAFFRAN PU-PH - APHM / AMU LAFOREST Brigitte Equipe 4, S. ZAFFRAN Post-Doc - AMU MITCHELL Julia Equipe 4, S. ZAFFRAN Masters 2 - AMU ODELIN Gaëlle 04 91 32 49 37 Equipe 4, S. ZAFFRAN Doctorant - INSERM PAPOUTSI Tania 04 91 32 49 36 Equipe 4, S. ZAFFRAN Post-Doc - AMU PINARD Amélie 04 91 32 49 45 Equipe 4, S. ZAFFRAN Doctorant - AMU ROUX Marine 04 91 32 49 37 Equipe 4, S. ZAFFRAN Doctorant - AMU ZAFFRAN Stéphane 04 91 32 49 36 Equipe 4, S. ZAFFRAN DR2 - INSERM

ASSOUM Mirna 04 91 32 50 02 Equipe 5, V. DELAGUE Post-Doc - INSERM ATTARIAN Shahram 04 91 32 49 45 Equipe 5, V. DELAGUE PU-PH - APHM / AMU BERNARD Rafaëlle 04 91 38 77 87 Equipe 5, V. DELAGUE MCU-PH - APHM / AMU CHABROL Brigitte 04 91 38 68 13 Equipe 5, V. DELAGUE PU-PH - APHM / AMU DELAGUE Valérie 04 91 32 49 18 Equipe 5, V. DELAGUE CR1 - INSERM DEPETRIS Danielle 04 91 32 49 20 Equipe 5, V. DELAGUE IE1 - INSERM EL BAZZAL Lara Equipe 5, V. DELAGUE Masters 2 - AMU ESTEVE Clotilde 04 91 32 50 02 Equipe 5, V. DELAGUE Doctorant - AMU LABUCHE Stella Equipe 5, V. DELAGUE Masters 2 - AMU MEGARBANE André 04 91 78 68 94 Equipe 5, V. DELAGUE PU-PH - APHM / AMU POUGET Jean 04 91 38 65 79 Equipe 5, V. DELAGUE PU-PH - APHM / AMU

RABARIMERIARIJAONA Sitraka 04 91 32 49 02 Equipe 5, V. DELAGUE Doctorant - AMU

BADJA Cherif 04 91 32 48 99 Equipe 6, F. MAGDINIER Doctorant - AMU BROUCQSAULT Natacha 04 91 32 48 99 Equipe 6, F. MAGDINIER Doctorant - AMU DION Camille 04 91 32 Equipe 6, F. MAGDINIER Masters 2 - AMU GAILLARD Marie-Cécile 04 91 32 48 99 Equipe 6, F. MAGDINIER Doctorant - AMU LASSERRE Manon 04 91 32 Equipe 6, F. MAGDINIER Masters 2 - AMU MAGDINIER Frédérique 04 91 32 49 08 Equipe 6, F. MAGDINIER DR2 - INSERM NGUYEN Karine 04 91 32 48 98 Equipe 6, F. MAGDINIER MCU-PH - APHM ROCHE Stéphane 04 91 32 49 16 Equipe 6, F. MAGDINIER Post-Doc - AMU TASMADJIAN Armand 04 91 32 49 16 Equipe 6, F. MAGDINIER TR - INSERM TROPEL Philippe 04 91 32 48 89 Equipe 6, F. MAGDINIER IR – AMU

BINETRUY Bernard 04 91 32 48 86 Equipe 7, B. BINETRUY DR2 - INSERM

EL YAZIDI/ MARTIN Claire 04 91 32 48 89 Equipe 7, B. BINETRUY TCE - INSERM THOMAS Morgane Equipe 7, B. BINETRUY IGE – AMU VANDEVELDE Amelle Equipe 7, B. BINETRUY Masters 2 - AMU

ABIDI Affef 04 91 32 49 24 Equipe 1, L. VILLARD Doctorant - AMU BINETRUY Bernard 04 91 32 48 86 Equipe 7, B. BINETRUY DR2 - INSERM EL YAZIDI/ MARTIN Claire 04 91 32 48 89 Equipe 7, B. BINETRUY TCE - INSERM THOMAS Morgane Equipe 7, B. BINETRUY IGE – AMU VANDEVELDE Amelle Equipe 7, B. BINETRUY Masters 2 - AMU


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ALCARAZ / DAHAN Laetitia 04 91 32 49 23 Equipe 8, C. BEROUD MCU-PH - APHM / AMU BARRE Laura Equipe 8, C. BEROUD TC – AMU BEROUD Christophe 04 91 32 44 88 Equipe 8, C. BEROUD PU-PH - APHM / AMU BLANCHARD Arnaud 04 91 32 48 84 Equipe 8, C. BEROUD Post-Doc - AMU BLANDIN Gaëlle 04 91 32 48 82 Equipe 8, C. BEROUD IR – PVM COLLOD-BERROUD Gwenaëlle 04 91 32 49 14 Equipe 8, C. BEROUD CR1 - INSERM COMPAGNONE Marion Equipe 8, C. BEROUD IE - Privé DESVIGNES Jean-Pierre 04 91 32 49 45 Equipe 8, C. BEROUD IGE - CDD AMU (AFM) FABRE Aurélie Equipe 8, C. BEROUD IR - APHM GRANDVAL Philippe Equipe 8, C. BEROUD PH - APHM GUIEN Céline 04 91 32 48 82 Equipe 8, C. BEROUD IE - AMU LAGARDE Arnaud Equipe 8, C. BEROUD IR - APHM LAIBE Sophy Equipe 8, C. BEROUD PH - IPC MILTGEN Morgane 04 91 32 48 85 Equipe 8, C. BEROUD Doctorant - AMU OLSCHWANG Sylviane 04 91 32 48 84 Equipe 8, C. BEROUD DR2 - INSERM PALACIN Camille Equipe 8, C. BEROUD Masters 2 - AMU PINARD Amélie 04 91 32 48 85 Equipe 8, C. BEROUD Doctorant - AMU RAI Ghadi 04 91 32 49 45 Equipe 8, C. BEROUD Doctorant - PVM SALGADO David 04 91 32 48 84 Equipe 8, C. BEROUD IR – PVM SIBERTIN / BLANC Camille Equipe 8, C. BEROUD Masters 2 - APHM

BLANCHI Bruno Equipe 9, M. PUCEAT Post-Doc - Privé DING Shunli Equipe 9, M. PUCEAT Post-Doc - INSERM HIRIART Emilye Equipe 9, M. PUCEAT Doctorant - Université d’Evry JEBENIARI Imen Equipe 9, M. PUCEAT Doctorant - AMU MOORE-MORRIS Thomas Equipe 9, M. PUCEAT Post-Doc - INSERM PUCEAT Michel Equipe 9, M. PUCEAT DR1 - INSERM

BERTAUX Karine Service Commun IGR - APHM BES Evelyne 04 91 32 49 01 Service Commun TC - INSERM BINETRUY Bernard 04 91 32 48 86 Service Commun DR2 - INSERM BOUQUET Christiane Service Commun ADT - AMU BOURGEOIS Patrice 04 91 38 77 55 Service Commun IE - APHM CARLIER Pascal 04 91 32 44 89 Service Commun MCU - AMU CASTRO Christel 04 91 32 50 02 Service Commun TRN - INSERM CAU Pierre 04 91 32 43 85 Service Commun PU-PH - APHM / AMU LOUIS Laurence 04 91 32 48 87 Service Commun IGE - AMU MOREAU Rodolphe 04 91 32 49 31 Service Commun IE – AMU NAUDON Frédéric 04 91 32 43 86 Service Commun TC – AMU ROBAGLIA-SCHLUPP Andrée 04 91 32 49 34 Service Commun MCU-PH - APHM / AMU ROECKEL-TREVISIOL Nathalie 04 91 32 49 41 Service Commun TR - INSERM ROUBERTOUX Pierre 04 91 32 45 64 Service Commun PU – AMU ROUX Jean-Christophe 04 91 32 49 04 Service Commun CR1 - INSERM SCAJOLA Christophe 04 91 32 49 10 Service Commun ADT - AMU VALENTIN Evelyne 04 91 32 44 03 Service Commun ADT1 - AMU

ACCUEIL MASTERS

Reproduction - Endocrinologie - Développement - ENSA Montpellier Génétique humaine - Université Paris VII

Développement et Immunologie - Aix-Marseille Pathologie Humaine : Génomique et Santé - Aix-Marseille


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EQUIPEMENTS MAJEURS

1/ Microscope à fluorescence (Apotome - Zeiss) 2/ Loupe binoculaire fluorescente (Apotome - Zeiss) 3/ Videotrack (évaluation fonctionnelle - View Piont) 4/ Microscope à fluorescence (LEICA)

5/ 2 Cryostat (LEICA) 6/ Microscope digital (Axiocam - Zeiss) 7/ Scanner ADN Array Resolution 2 Micron (Roche) 8/ Séquenceur 4-5-4 Junior (Roche) 9/ Séquenceur Ion Torrent (LifeTech) 10/ Supercalculateur (SGI Silicon grafic) 2012

THESES de DOCTORAT ANNÉE 2013 Vendredi 15/02, 14h. thèse Chokri Boubaker. «Etude Génétique des Familles Consanguines Atteintes de diverses Formes de la Maladie de Charcot-Marie-Tooth» Vendredi 14/06, 14h. (Salle de thèses n° 2) thèse Yasmine Hadjal. - Equipe B. Binetruy

"Rôle de la cascade p38MAPK-p53 dans la différenciation des cellules souches embryonnaires de souris" Jeudi 11/07, 14h. (Salle de thèses n° 2) thèse Florian Barthelemy. “La modularité de la dysferline permet-elle le développement d'approches thérapeutiques?" Vendredi 13/09, 13h.30 (Salle de thèses Faculté de Pharmacie) thèse Nathalie Bonello.

“Etude de la sénescence induite par un défaut de maturation de la lamine A dans l’endothélium vasculaire"

Mardi 10/12, 14h, salle de - Thèse Nancy Choucair (co-tutelle Laurent Villard/André Megarbané) Mercredi 11/12, 14h, Institut des Neurosciences de la Timone -Thèse Rita El Khoury (Direction JC Roux)

Lundi 16/12, 14h, - Thèse Marine Roux, (Direction S. Zaffran) Mardi 17/12, 14h - Thèse Sophy Laibe, (Equipe Béroud, Groupe S. Olschwang) Vendredi 20/12, 13h - Thèse Natacha Broucqsault, (direction F. Magdinier)

CONTRATS ANNÉE 2013

Titre projet Financeur Période Responsable scientifique

ANTARES ANR-12-BSV1-0003-01 ANR (public) 01.11.2012 31.10.2015 VILLARD

Fondat°MaladRares HTS-RD-U201309021 FMR (fondation) 25.02.2014 24.02.2015 VILLARD

CONVENTION 1U01MH101722-01 NIH (USA) 26.09.2013 31.07.2017 VILLARD

AFM Team 5 >> équipe 1 GMGF AFM (association) 18.06.2010 30.06.2015 VILLARD

AFSR CVT N°2013-25 Association maladie RETT 13.02.2013 12.02.2015 VILLARD

Prix Robert Debray Eq Levy Association 20.09.2013

LEVY


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AFM Team 1 >> équipe 2 GMGF AFM (association) 18.06.2010 30.06.2015 LEVY

Ag biomedecine diagnostic prenatal &génétique Agence Biomedecine (public) 07.10.2013 31.12.2015 LEVY

AFM Team 8 >> équipe Plateforme IPS GMGF AFM (association) 01.07.2012 30.06.2014 BINETRUY

AFM Team 7 >> équipe 4 GMGF AFM (association) 18.06.2010 30.06.2015 BEROUD

CVT DE RECHERCHE NO 2012-195 SYNDROME DE AFM (association) 01.10.2012 30.09.2015 BEROUD

AFM DU 15/07/11 FSHD-Registry AFM (association) 15.07.2012 14.03.2016 BEROUD

ANR-2010-BLAN-1129-93 ANR (public) 01.03.2012 31.12.2014 BEROUD

Convention NEVUS OUTREACH Association 01.01.2012 31.12.2014 ZAFFRAN

CONVENTION DPC20111123002 ANR (public) 01.02.2012 31.01.2015 ZAFFRAN

Fondation Lefoulon Delalande_CDD Odelin Fondation institut de France 01.01.2013 31.12.2013 ZAFFRAN

Lettre 5/11/13 AsoNevus_MEP biobanque... Association 01.01.2014 31.01.2015 ZAFFRAN

Institut de France recrutement STEFANOVI Fondation institut de France 01.09.2014 30.06.2015 ZAFFRAN

AFM Team 6 >> équipe 5 GMGF AFM (association) 18.06.2010 30.06.2015 ZAFFRAN

ANR-13-BSV2-0003-01 TRANSCARDIAC ZAFFRAN ANR (public) 01.01.2014 30.06.2017 ZAFFRAN

Naevus 2000 France Europe Association 01.01.2012 28.02.2015 ZAFFRAN

AFM Team 4 >> équipe 6 GMGF AFM (association) 18.06.2010 30.06.2015 MAGDINIER

CVT LEJEUNE DU 21.02.2012 Association 21.02.2012 19.02.2015 MAGDINIER

ANR-13-BSV1-0004-01 DECIPHER MAGDINIER ANR (public) 01.11.2013 30.04.2017 MAGDINIER

CVT 6313PS003 Fondation 12.04.2010 30.09.2014 BARTOLI

AFM Team 2 >> équipe 8 GMGF AFM (association) 18.06.2010 30.06.2015 DELAGUE

AFM Team 3 >> équipe 9 GMGF AFM (association) 18.06.2010 30.06.2015 BARTOLI

JAIN FOUDATION DE 09/2012 Fondation (USA) 01.10.2012 31.03.2014 BARTOLI

ANR 09 GENO 038 03 ANR (public) 23.03.2010 10.01.2014 BARTOLI

ANR-13-BSV1-0004-01 DECIPHER BARTOLI ANR (public) 01.11.2013 30.04.2017 BARTOLI

Conv reversement CNRS/FSHD Global Fondation (USA) 01.01.2012 30.09.2014 BARTOLI

ANR-13-BSV2-0003-03 TRANSCARDIAC PUCEAT ANR (public) 01.01.2014 30.06.2014 PUCEAT

CE NEUROMICS Contrat Européen

LEVY

CE RD CONNECT Contrat Européen

BEROUD

LNCC_U891_Olschwang Fondation

BEROUD

Fondation Leducque (R13092AA/RAK13007AAA) PUCEAT Fondation 01.01.2014 31.12.2016 PUCEAT

CE STEMBANCC Contrat Européen 01.10.2012 30.09.2017 PUCEAT

Contrat Prenyl Bio Entreprise (privé) 01.01.2012 28.02.2017 LEVY

Univercell Biosolution B Binetruy Entreprise (privé) 10.06.2013 30.06.2014 BINETRUY

Physiostim - BC du 14/02/14 - optimisati Entreprise (privé) 14.02.2014 31.12.2014 PUCEAT

BREVETS ANNÉE 2013

- In vitro genetic diagnostic of Inherited Peripheral Neuropathies. Demande de brevet européen n°

13306084.8 déposée le 26 juillet 2013 pour l’INSERM (INSERM Transfer, siège de Paris).


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PUBLICATIONS ANNÉE 2013

2013 Eq VILLARD

Sanchez-Mut, J.V., Aso, E., Panayotis, N., Lott, I., Dierssen, M., Rabano, A., Urdinguio,

R.G., Fernandez, A.F., Astudillo, A., Martin-Subero, J.I., et al. (2013). DNA methylation map of mouse and human brain identifies target genes in Alzheimer\'s disease. Brain 136, 3018–3027.

Cacciagli, P., Sutera-Sardo, J., Borges-Correia, A., Roux, J.C., Dorboz, I., Desvignes, J.P.,

Badens, C., Delepine, M., Lathrop, M., Cau, P., et al. (2013). Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus. American Journal of Human Genetics 93, 579–586.

Van Maldergem, L., Hou, Q., Kalscheuer, V.M., Rio, M., Doco-Fenzy, M., Medeira, A., de

Brouwer, A.P., Cabrol, C., Haas, S.A., Cacciagli, P., et al. (2013). Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth. Hum Mol Genet 22, 3306–3314.

Milh, M., Falace, A., Villeneuve, N., Vanni, N., Cacciagli, P., Assereto, S., Nabbout, R.,

Benfenati, F., Zara, F., Chabrol, B., et al. (2013). Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. Hum. Mutat. 34, 869–872.

Kaddoum, L., Panayotis, N., Mazarguil, H., Giglia-Mari, G., Roux, J.C., and Joly, E. (2013).

Isoform-specific anti-MeCP2 antibodies confirm that expression of the e1 isoform strongly predominates in the brain. F1000Res 2, 204.

Tanyalçin, I., Verhelst, H., Halley, D.J., Vanderhasselt, T., Villard, L., Goizet, C., Lissens,

W., Mancini, G.M., and Jansen, A.C. (2013). Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: Case study and literature review. European Journal of Paediatric Neurology 17, 666–670.

Milh, M., Boutry-Kryza, N., Sutera-Sardo, J., Mignot, C., Auvin, S., Lacoste, C., Villeneuve,

N., Roubertie, A., Heron, B., Carneiro, M., et al. (2013). Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2. Orphanet J Rare Dis 8, 80.

2013 Eq LEVY

Navarro, C.L., Esteves-Vieira, V., Courrier, S., Boyer, A., Duong Nguyen, T., Huong, L.T.T.,

Meinke, P., Schröder, W., Cormier-Daire, V., Sznajer, Y., et al. (2013). New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update. Eur J Hum Genet, in press

Cacciagli, P., Sutera-Sardo, J., Borges-Correia, A., Roux, J.C., Dorboz, I., Desvignes, J.P.,

Badens, C., Delepine, M., Lathrop, M., Cau, P., et al. (2013). Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus. American Journal of Human Genetics 93, 579–586.

Salort-Campana, E., Nguyen, K., Levy, N., Pouget, J., and Attarian, S. (2013). Diagnostic

clinique et moléculaire de la myopathie facioscapulo-humérale de type 1 (FSHD1) en 2012. Revue Neurologique 169, 573–582.

Thauvin-Robinet, C., Thomas, S., Sinico, M., Aral, B., Burglen, L., Gigot, N., Dollfus, H.,

Rossignol, S., Raynaud, M., Philippe, C., et al. (2013). OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment. Clin. Genet. 84, 86–90.

Zufferey, F., Hadj-Rabia, S., De Sandre-Giovannoli, A., Dufier, J.L., Leheup, B., Schweitze, C., Bodemer, C., Cormier-Daire, V., and Le Merrer, M. (2013). Acro-osteolysis, keloid like-

lesions, distinctive facial features, and overgrowth: two newly recognized patients with premature aging syndrome, Penttinen type. Am J Med Genet A 161A, 1786–1791.

Linssen, W.H.J.P., de Voogt, W.G., Krahn, M., Bernard, R., Levy, N., Wokke, J.H.J., Ginjaar, H.B., and de Visser, M. (2013). Long-term follow-up study on patients with Miyoshi

phenotype of distal muscular dystrophy. Eur. J. Neurol. 20, 968–974.

Agouti, I., Merono, F., Bonello-Palot, N., and Badens, C. (2013). Analytical evaluation of the Capillarys 2 Flex piercing for routine haemoglobinopathies diagnosis. Int J Lab Hematol

35, 217–221.

Kaspi, E., Guillet, B., Piercecchi-Marti, M.-D., Alfaidy, N., Bretelle, F., Bertaud-Foucault, A., Stalin, J., Rambeloson, L., Lacroix, O., Blot-Chabaud, M., et al. (2013). Identification of


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soluble CD146 as a regulator of trophoblast migration: potential role in placental vascular

development. Angiogenesis 16, 329–342.

Böhm, J., Chevessier, F., Maues De Paula, A., Koch, C., Attarian, S., Feger, C., Hantaï, D.,

Laforêt, P., Ghorab, K., Vallat, J.-M., et al. (2013). Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. American Journal of Human Genetics

92, 271–278.

Boubaker, C., Hsairi-Guidara, I., Castro, C., Ayadi, I., Boyer, A., Kerkeni, E., Courageot, J., Abid, I., Bernard, R., and Bonello-Palot, N. (2013). A Novel Mutation in FGD4/FRABIN Causes Charcot Marie Tooth Disease Type 4H in Patients from a Consanguineous Tunisian

Family. Annals of Human Genetics 77, 336–343.

Broucqsault, N., Morere, J., Gaillard, M.C., Dumonceaux, J., Torrents, J., Salort-Campana, E., Maues De Paula, A., Bartoli, M., Fernandez, C., Chesnais, A.L., et al. (2013). Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked

to facio-scapulo-humeral dystrophy. Human Molecular Genetics 22, 4206–4214.

Caruso, N., Herberth, B., Bartoli, M., Puppo, F., Dumonceaux, J., Zimmermann, A., Denadai, S., Lebossé, M., Roche, S., and Geng, L. (2013). Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of

facioscapulohumeral dystrophy. PLoS Genet 9, e1003550.

Fabre, A., Martinez-Vinson, C., Goulet, O., and Badens, C. (2013). Syndromic

diarrhea/Tricho-hepato-enteric syndrome. Orphanet J Rare Dis 8, 5.

Galambrun, C., Pondarré, C., Bertrand, Y., Loundou, A., Bordigoni, P., Frange, P., Lutz, P.,

Mialou, V., Rubie, H., and Socié, G. (2013). French Multicenter 22-Year Experience in Stem Cell Transplantation for Beta-Thalassemia Major: Lessons and Future Directions. Biology of Blood and Marrow Transplantation 19, 62–68.

Meregalli, M., Navarro, C., Sitzia, C., Farini, A., Montani, E., Wein, N., Razini, P., Beley, C., Cassinelli, L., and Parolini, D. (2013). Full‐length dysferlin expression driven by engineered

human dystrophic blood derived CD133+ stem cells. Febs J 280, 6045–6060.

Milh, M., Boutry-Kryza, N., Sutera-Sardo, J., Auvin, S., Mignot, C., Lacoste, C., Villeneuve,

N., Roubertie, A., Heron, B., Carneiro, M., et al. (2013). Variable outcomes of early-onset epileptic encephalopathy associated with de novo mutations in KCNQ2. Orphanet Journal of Rare Diseases 8, 80.

Milh, M., Boutry-Kryza, N., Sutera-Sardo, J., Mignot, C., Auvin, S., Lacoste, C., Villeneuve,

N., Roubertie, A., Heron, B., Carneiro, M., et al. (2013). Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2. Orphanet J RareDis8,80.

Thibault, G., Fertil, B., Navarro, C., Pereira, S., Cau, P., Lévy, N., Sequeira, J., and Mari, J.-

L. (2013). SHAPE AND TEXTURE INDEXES APPLICATION TO CELL NUCLEI CLASSIFICATION. International Journal of Pattern Recognition and Artificial Intelligence 27.

2013 EQ BARTOLI / KRAHN

Blandin G, Marchand S, Charton K, Daniele N, Gicquel E, Boucheteil JB, Bentaib A, Barrault

L, Stockholm D, Bartoli M, Richard I. 2013. A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome. Skelet Muscle 3(1):3. PMID: 23414517

Bohm J, Chevessier F, Maues De Paula A, Koch C, Attarian S, Feger C, Hantai D, Laforet P,

Ghorab K, Vallat JM, Fardeau M, Figarella-Branger D, Pouget J, Romero NB, Koch M, Ebel C, Levy N, Krahn M, Eymard B, Bartoli M, Laporte J. 2013. Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. Am J Hum Genet 92(2):271-8. PMID: 23332920

Broucqsault N, Morere J, Gaillard MC, Dumonceaux J, Torrents J, Salort-Campana E, Maues

De Paula A, Bartoli M, Fernandez C, Chesnais AL, Ferreboeuf M, Sarda L, Dufour H,

Desnuelle C, Attarian S, Levy N, Nguyen K, Magdinier F, Roche S. 2013. Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy. Hum Mol Genet 22(20):4206-14. PMID: 23777630

Caruso N, Herberth B, Bartoli M, Puppo F, Dumonceaux J, Zimmermann A, Denadai S,

Lebosse M, Roche S, Geng L, Magdinier F, Attarian S, Bernard R, Maina F, Levy N, Helmbacher F. 2013. Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy. PLoS Genet 9(6):e1003550. PMID: 23785297

Linssen WH, de Voogt WG, Krahn M, Bernard R, Levy N, Wokke JH, Ginjaar HB, de Visser

M. 2013. Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy. Eur J Neurol 20(6):968-74. PMID: 23530687


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Roudaut C, Le Roy F, Suel L, Poupiot J, Charton K, Bartoli M, Richard I. 2013. Restriction

of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy. Circulation 128(10):1094-104. PMID: 23908349

2013 Eq ZAFFRAN

Hubert, S., Thuny, F., Resseguier, N., Giorgi, R., Tribouilloy, C., Le Dolley, Y., Casalta, J.P., Riberi, A., Chevalier, F., Rusinaru, D., et al. (2013). Prediction of Symptomatic Embolism in Infective Endocarditis: Construction and Validation of a Risk Calculator in a Multicenter Cohort. Journal of the American College of Cardiology 62, 1384–1392.

Avierinos, J.F., Tribouilloy, C., Grigioni, F., Suri, R., Barbieri, A., Michelena, H.I., Ionico, T., Rusinaru, D., Ansaldi, S., Habib, G., et al. (2013). Impact of ageing on presentation and outcome of mitral regurgitation due to flail leaflet: a multicentre international study. Eur Heart J 34, 2600–2609.

Suri, R.M., Vanoverschelde, J.L., Grigioni, F., Schaff, H.V., Tribouilloy, C., Avierinos, J.F., Barbieri, A., Pasquet, A., Huebner, M., Rusinaru, D., et al. (2013). Association between early surgical intervention vs watchful waiting and outcomes for mitral regurgitation due to flail mitral valve leaflets. JAMA - Journal of the American Medical Association 310, 609–

616.

Theron, A., Gariboldi, V., Grisoli, D., Maysou, L.A., Jaussaud, N., Morera, P., Cuisset, T., Quilici, J., Thuny, F., Riberi, A., et al. (2013). Three-dimensional transesophageal

echocardiography assessment of a successful transcatheter mitral valve in valve

implantation for degenerated bioprosthesis. Echocardiography 30, E152–E155.

Saby, L., Laas, O., Habib, G., Cammilleri, S., Mancini, J., Tessonnier, L., Casalta, J.P.,

Gouriet, F., Riberi, A., Avierinos, J.F., et al. (2013). Positron emission tomography/computed tomography for diagnosis of prosthetic valve endocarditis: increased valvular 18F-fluorodeoxyglucose uptake as a novel major criterion. Journal of the American College of Cardiology 61, 2374–2382.

Yajima, I., Colombo, S., Puig, I., Champeval, D., Kumasaka, M., Belloir, E., Bonaventure,

J., Mark, M., Yamamoto, H., Taketo, M.M., et al. (2013). A subpopulation of smooth muscle cells, derived from melanocyte-competent precursors, prevents patent ductus arteriosus. PLoS ONE 8, e53183.

2013 Eq DELAGUE

Boubaker C, Hsairi-Guidara I, Castro C, Ayadi I, Boyer A, Kerkeni E, Courageot J, Abid I,

Bernard R, Bonello-Palot N, Kamoun F, Cheikh HB, Levy N, Triki C, Delague V. 2013. A Novel Mutation in FGD4/FRABIN Causes Charcot Marie Tooth Disease Type 4H in Patients from a Consanguineous Tunisian Family. Ann Hum Genet. PMID: 23550889

Chouery E, Guissart C, Megarbane H, Aral B, Nassif C, Thauvin-Robinet C, Faivre L,

Megarbane A. 2013. Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): Case report and literature review. Eur J Med Genet. PMID: 24095818

Delague V. 2013. Charcot-Marie-Tooth Neuropathy Type 4H. Available from http://www.ncbi.nlm.nih.gov/books/NBK153601/. PMID: 23926620

2013 Eq MAGDINIER

Boussouar A, Barette C, Nadon R, Saint-Leger A, Broucqsault N, Ottaviani A, Firozhoussen

A, Lu Y, Lafanechere L, Gilson E, Magdinier F, Ye J. 2013. Acacetin and chrysin, two polyphenolic compounds, alleviate telomeric position effect in human cells. Mol Ther Nucleic Acids 2:e116. PMID: 23962900

Broucqsault N, Morere J, Gaillard MC, Dumonceaux J, Torrents J, Salort-Campana E, Maues

De Paula A, Bartoli M, Fernandez C, Chesnais AL, Ferreboeuf M, Sarda L, Dufour H, Desnuelle C, Attarian S, Levy N, Nguyen K, Magdinier F, Roche S. 2013. Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy. Hum Mol Genet 22(20):4206-14. PMID: 23777630

Caruso N, Herberth B, Bartoli M, Puppo F, Dumonceaux J, Zimmermann A, Denadai S,

Lebosse M, Roche S, Geng L, Magdinier F, Attarian S, Bernard R, Maina F, Levy N, Helmbacher F. 2013. Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy. PLoS Genet 9(6):e1003550. PMID: 23785297

Diala I, Wagner N, Magdinier F, Shkreli M, Sirakov M, Bauwens S, Schluth-Bolard C,

Simonet T, Renault VM, Ye J, Djerbi A, Pineau P, Choi J, Artandi S, Dejean A, Plateroti M,

http://umr910.timone.univ-mrs.fr/%22http:/www.ncbi.nlm.nih.gov/books/NBK153601/%22


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Gilson E. 2013. Telomere protection and TRF2 expression are enhanced by the canonical

Wnt signalling pathway. EMBO Rep 14(4):356-63. PMID: 23429341

Ferreboeuf M, Mariot V, Bessieres B, Vasiljevic A, Attie-Bitach T, Collardeau S, Morere J,

Roche S, Magdinier F, Robin-Ducellier J, Rameau P, Whalen S, Desnuelle C, Sacconi S, Mouly V, Butler-Browne G, Dumonceaux J. 2013. DUX4 and DUX4 downstream target

genes are expressed in fetal FSHD muscles. Hum Mol Genet. PMID: 23966205

Salort-Campana E, Nguyen K, Levy N, Pouget J, Attarian S. 2013. [Clinical and molecular diagnosis of facioscapulohumeral dystrophy type 1 (FSHD1) in 2012]. Rev Neurol (Paris) 169(8-9):573-82. PMID: 24011979

2013 Eq BINETRUY

Hadjal Y, Hadadeh O, Yazidi CE, Barruet E, Binetruy B. 2013. A p38MAPK-p53 cascade regulates mesodermal differentiation and neurogenesis of embryonic stem cells. Cell Death Dis 4:e737. PMID: 23887628

2013 Eq BEROUD

Beau-Faller M, Blons H, Domerg C, Gajda D, Richard N, Escande F, Solassol J, Denis MG, Cayre A, Nanni-Metellus I, Olschwang S, Lizard S, Piard F, Pretet JL, de Fraipont F, Bieche

I, de Cremoux P, Rouquette I, Bringuier PP, Mosser J, Legrain M, Voegeli AC, Saulnier P,

Morin F, Pignon JP, Zalcman G, Cadranel J. 2013. A Multicenter Blinded Study Evaluating EGFR and KRAS Mutation Testing Methods in the Clinical Non-Small Cell Lung Cancer Setting-IFCT/ERMETIC2 Project Part 1: Comparison of Testing Methods in 20 French Molecular Genetic National Cancer Institute Platforms. J Mol Diagn. PMID: 24183959

Bladen CL, Rafferty K, Straub V, Monges S, Moresco A, Dawkins H, Roy A, Chamova T,

Guergueltcheva V, Korngut L, Campbell C, Dai Y, Barisic N, Kos T, Brabec P, Rahbek J, Lahdetie J, Tuffery-Giraud S, Claustres M, Leturcq F, Ben Yaou R, Walter MC, Schreiber O, Karcagi V, Herczegfalvi A, Viswanathan V, Bayat F, de la Caridad Guerrero Sarmiento I, Ambrosini A, Ceradini F, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Oliveira J, Santos R, Neagu E, Butoianu N, Artemieva S, Rasic VM, Posada

M, Palau F, Lindvall B, Bloetzer C, Karaduman A, Topaloglu H, Inal S, Oflazer P, Stringer A, Shatillo AV, Martin AS, Peay H, Flanigan KM, Salgado D, von Rekowski B, Lynn S, Heslop E, Gainotti S, Taruscio D, Kirschner J, Verschuuren J, Bushby K, Beroud C, Lochmuller H. 2013. The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia. Hum Mutat. PMID: 23913485

Blandin G, Marchand S, Charton K, Daniele N, Gicquel E, Boucheteil JB, Bentaib A, Barrault

L, Stockholm D, Bartoli M, Richard I. 2013. A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome. Skelet Muscle 3(1):3. PMID: 23414517

Cacciagli P, Desvignes JP, Girard N, Delepine M, Zelenika D, Lathrop M, Levy N, Ledbetter

DH, Dobyns WB, Villard L. 2013a. AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). Eur J Hum Genet. PMID: 23756445

Cacciagli P, Sutera-Sardo J, Borges-Correia A, Roux JC, Dorboz I, Desvignes JP, Badens C,

Delepine M, Lathrop M, Cau P, Levy N, Girard N, Sarda P, Boespflug-Tanguy O, Villard L. 2013b. Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus. Am J Hum Genet 93(3):579-86. PMID: 24011989

Callier P, Aral B, Hanna N, Lambert S, Dindy H, Ragon C, Payet M, Collod-Beroud G,

Carmignac V, Delrue M, Goizet C, Philip N, Busa T, Dulac Y, Missotte I, Sznajer Y, Toutain A, Francannet C, Megarbane A, Julia S, Edouard T, Sarda P, Amiel J, Lyonnet S, Cormier-Daire V, Gilbert B, Jacquette A, Heron D, Collignon P, Lacombe D, Morice-Picard F, Jouk P,

Cusin V, Willems M, Sarrazin E, Amarof K, Coubes C, Addor M, Journel H, Colin E, Khau Van Kien P, Baumann C, Leheup B, Martin-Coignard D, Doco-Fenzy M, Goldenberg A, Plessis G,

Thevenon J, Pasquier L, Odent S, Vabres P, Huet F, Marle N, Mosca-Boidron A, Mugneret F, Gauthier S, Binquet C, Thauvin-Robinet C, Jondeau G, Boileau C, Faivre L. 2013. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability. Clin Genet. PMID: 23506379

Gabaldon T, Martin T, Marcet-Houben M, Durrens P, Bolotin-Fukuhara M, Lespinet O,

Arnaise S, Boisnard S, Aguileta G, Atanasova R, Bouchier C, Couloux A, Creno S, Almeida Cruz J, Devillers H, Enache-Angoulvant A, Guitard J, Jaouen L, Ma L, Marck C, Neuveglise C, Pelletier E, Pinard A, Poulain J, Recoquillay J, Westhof E, Wincker P, Dujon B, Hennequin C, Fairhead C. 2013. Comparative genomics of emerging pathogens in the Candida glabrata clade. BMC Genomics 14(1):623. PMID: 24034898


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Grandval P, Fabre AJ, Gaildrat P, Baert-Desurmont S, Buisine MP, Ferrari A, Wang Q,

Beroud C, Olschwang S. 2013a. UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families. Database (Oxford)

2013:bat036. PMID: 23729658

Grandval P, Fabre AJ, Olschwang S. 2013b. Design of a core classification process for DNA

mismatch repair variations of a priori unknown functional significance. Hum Mutat 34(6):920-2. PMID: 23554159

Humbertclaude V, Hamroun D, Picot MC, Bezzou K, Berard C, Boespflug-Tanguy O,

Bommelaer C, Campana-Salort E, Cances C, Chabrol B, Commare MC, Cuisset JM, de Lattre C, Desnuelle C, Echenne B, Halbert C, Jonquet O, Labarre-Vila A, N\'Guyen-Morel MA, Pages M, Pepin JL, Petitjean T, Pouget J, Ollagnon-Roman E, Richelme C, Rivier F, Sacconi S, Tiffreau V, Vuillerot C, Beroud C, Tuffery-Giraud S, Claustres M. 2013. [Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of

genetic and clinical databases]. Rev Neurol (Paris) 169(8-9):583-94. PMID: 23954141

Marisa L, de Reynies A, Duval A, Selves J, Gaub MP, Vescovo L, Etienne-Grimaldi MC, Schiappa R, Guenot D, Ayadi M, Kirzin S, Chazal M, Flejou JF, Benchimol D, Berger A, Lagarde A, Pencreach E, Piard F, Elias D, Parc Y, Olschwang S, Milano G, Laurent-Puig P,

Boige V. 2013. Gene expression classification of colon cancer into molecular subtypes: characterization, validation, and prognostic value. PLoS Med 10(5):e1001453. PMID:

23700391

McDonnell CM, Alaux C, Parrinello H, Desvignes JP, Crauser D, Durbesson E, Beslay D, Le

Conte Y. 2013. Ecto- and endoparasite induce similar chemical and brain neurogenomic responses in the honey bee (Apis mellifera). BMC Ecol 13(1):25. PMID: 23866001

Oudot C, Defachelles AS, Minard-Colin V, Olschwang S, Fourcade L, Helfre S, Orbach D. 2013. [Desmoid tumors in children: current strategy]. Bull Cancer 100(5):518-28. PMID:

23695183

Pujol P, Lyonnet DS, Frebourg T, Blin J, Picot MC, Lasset C, Dugast C, Berthet P, de Paillerets BB, Sobol H, Grandjouan S, Soubrier F, Buecher B, Guimbaud R, Lidereau R, Jonveaux P, Houdayer C, Giraud S, Olschwang S, Nogue E, Galibert V, Bara C, Nowak F, Khayat D, Nogues C. 2013. Lack of referral for genetic counseling and testing in BRCA1/2

and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests. Breast Cancer Res Treat 141(1):135-44. PMID: 23974829

Rahner N, Steinke V, Schlegelberger B, Eisinger F, Hutter P, Olschwang S. 2013. Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012.

Eur J Hum Genet 21(1). PMID: 22892529

Ravoire A, Faivre L, Degrolard-Courcet E, Bedenne L, Olschwang S, Rat P, Ortega-Deballon P. 2013. Gastric Adenocarcinoma in Familial Adenomatous Polyposis Can Occur Without Previous Lesions. J Gastrointest Cancer. PMID: 23677534

Zhang H, Zeng D, Olschwang S, Yu K. 2013. Semiparametric inference on the penetrances of rare genetic mutations based on a case-family design. J Stat Plan Inference 143(2):368-377. PMID: 23329866

2013 Eq PUCEAT

Catelain C, Riveron S, Papadopoulos A, Mougenot N, Jacquet A, Vauchez K, Yada E, Puceat M, Fiszman M, Butler-Browne G, Bonne G, Vilquin JT. 2013. Myoblasts and embryonic stem cells differentially engraft in a mouse model of genetic dilated cardiomyopathy. Mol Ther 21(5):1064-75. PMID: 23439500

Puceat M. 2013a. Could a pluripotent stem cell give rise to a high yield of a single cell lineage: a myocardial cell? Curr Opin Genet Dev 23(4):498-9. PMID: 23850377

Puceat M. 2013b. Embryological origin of the endocardium and derived valve progenitor

cells: from developmental biology to stem cell-based valve repair. Biochim Biophys Acta 1833(4):917-22. PMID: 23078978

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