The Team
  • Researchers

    Valérie BIANCALANA

    Johann BOHM

    Belinda COWLING

    Jocelyn LAPORTE

  • Phd Students

    Valentina Maria LIONELLO

    Xavière LORNAGE

    Georges Arielle PECHE

    Aymen RABAI

    Matthieu RAESS

    Maxime SARTORI

    Vanessa SCHARTNER

    Hichem TASFAOUT

  • Engineers & Technicians

    Elodie BOEUF

    Suzie BUONO

    Sébastien FREISMUTH

    Pascal KESSLER

    Christine KRETZ

  • Collaborateur Occasionnel

    Raphaël SCHNEIDER

  • Master

    Roberto SILVA ROJAS

Translational medicine and neurogenetics

Pathophysiology of neuromuscular diseases

Publications

Print the whole list

  • Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.

    Bauché S(1), O'Regan S(2), Azuma Y(3), Laffargue F(4), McMacken G(3), Sternberg D(5), Brochier G(6), Buon C(1), Bouzidi N(1), Topf A(3), Lacène E(6), Remerand G(7), Beaufrere AM(8), Pebrel-Richard C(9), Thevenon J(10), El Chehadeh-Djebbar S(11), Faivre L(10), Duffourd Y(12), Ricci F(13), Mongini T(13), Fiorillo C(14), Astrea G(15), Burloiu CM(16), Butoianu N(16), Sandu C(16), Servais L(17), Bonne G(17), Nelson I(17), Desguerre I(18), Nougues MC(19), Bœuf B(20), Romero N(21), Laporte J(22), Boland A(23), Lechner D(23), Deleuze JF(23), Fontaine B(5), Strochlic L(1), Lochmuller H(3), Eymard B(24), Mayer M(19), Nicole S(25).

    Am J Hum Genet Sept. 1, 2016;99:753-61.

  • High-throughput discovery of novel developmental phenotypes.

    Dickinson ME(1), Flenniken AM(2,)(3), Ji X(4), Teboul L(5), Wong MD(2,)(6), White JK(7), Meehan TF(8), Weninger WJ(9), Westerberg H(5), Adissu H(2,)(10), Baker CN(11), Bower L(12), Brown JM(5), Caddle LB(11), Chiani F(13), Clary D(12), Cleak J(5), Daly MJ(14,)(15), Denegre JM(11), Doe B(7), Dolan ME(11), Edie SM(11), Fuchs H(16), Gailus-Durner V(16), Galli A(7), Gambadoro A(13), Gallegos J(17), Guo S(18), Horner NR(5), Hsu CW(1), Johnson SJ(5), Kalaga S(1), Keith LC(1), Lanoue L(12), Lawson TN(5), Lek M(14,)(15), Mark M(19), Marschall S(16), Mason J(8), McElwee ML(1), Newbigging S(2,)(10), Nutter LM(2,)(10), Peterson KA(11), Ramirez-Solis R(7), Rowland DJ(12), Ryder E(7), Samocha KE(14,)(15), Seavitt JR(17), Selloum M(19), Szoke-Kovacs Z(5), Tamura M(20), Trainor AG(12), Tudose I(8), Wakana S(20), Warren J(8), Wendling O(19), West DB(21), Wong L(1), Yoshiki A(20); International Mouse Phenotyping Consortium; Jackson Laboratory; Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris (ICS); Charles River Laboratories; MRC Harwell; Toronto Centre for Phenogenomics; Wellcome Trust Sanger Institute; RIKEN BioResource Center, MacArthur DG(14,)(15), Tocchini-Valentini GP(13), Gao X(18), Flicek P(8), Bradley A(7), Skarnes WC(7), Justice MJ(10,)(17), Parkinson HE(8), Moore M(22), Wells S(5), Braun RE(11), Svenson KL(11), de Angelis MH(16,)(23,)(24), Herault Y(19), Mohun T(25), Mallon AM(5), Henkelman RM(2,)(6), Brown SD(5), Adams DJ(7), Lloyd KC(12), McKerlie C(2,)(10), Beaudet AL(17), Bu?an M(26), Murray SA(11).

    Nature Sept. 14, 2016.

Imprimer Envoyer

Université de Strasbourg
INSERM
CNRS

IGBMC - CNRS UMR 7104 - Inserm U 964
1 rue Laurent Fries / BP 10142 / 67404 Illkirch CEDEX / France Tél +33 (0)3 88 65 32 00 / Fax +33 (0)3 88 65 32 01 / directeur.igbmc@igbmc.fr