L'équipe
  • Chercheurs

    Stephan COLLINS

    Christel DEPIENNE

    Binnaz YALCIN

  • Doctorants

    Perrine KRETZ

  • Ingénieurs & Techniciens

    Marie-Christine FISCHER

    Christel WAGNER

Médecine translationnelle et neurogénétique

Base génétique des maladies cognitives

Publications

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  • WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy

    Meghna Kannana,b,c,d,e,1, Efil Bayama,b,c,d,1, Christel Wagnera,b,c,d, Bruno Rinaldif, Perrine F. Kretza,b,c,d, Peggy Tillya,b,c,d, Marna Roosg, Lara McGillewieh, Séverine Bärf, Shilpi Minochae, Claire Chevaliera,b,c,d, Chrystelle Poi, Sanger Mouse Genetics Projectj,2, Jamel Chellya,b,c,d, Jean-Louis Mandela,b,c,d, Renato Borgattik, Amélie Pitona,b,c,d, Craig Kinnearh, Ben Loosg, David J. Adamsj, Yann Héraulta,b,c,d, Stephan C. Collinsa,b,c,d,l, Sylvie Friantf, Juliette D. Godina,b,c,d, and Binnaz Yalcina,b,c,d,3

    PNAS 2017;:.

  • Mutations in the netrin-1 gene cause congenital mirror movements.

    Meneret A(1)(2), Franz EA(3), Trouillard O(1), Oliver TC(4), Zagar Y(5), Robertson SP(6), Welniarz Q(1)(7), Gardner RJM(6), Gallea C(1), Srour M(8)(9), Depienne C(1)(10)(11), Jasoni CL(12), Dubacq C(7), Riant F(13)(14), Lamy JC(1), Morel MP(7), Guerois R(15), Andreani J(15), Fouquet C(7), Doulazmi M(16), Vidailhet M(1)(2), Rouleau GA(8)(17)(18), Brice A(1)(19), Chedotal A(5), Dusart I(7), Roze E(1)(2), Markie D(4).

    J Clin Invest 25 septembre 2017.

  • Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome.

    Huang AY(1), Yu D(2), Davis LK(3), Sul JH(4), Tsetsos F(5), Ramensky V(6), Zelaya I(1), Ramos EM(4), Osiecki L(7), Chen JA(1), McGrath LM(8), Illmann C(7), Sandor P(9), Barr CL(10), Grados M(11), Singer HS(11), Nothen MM(12), Hebebrand J(13), King RA(14), Dion Y(15), Rouleau G(16), Budman CL(17), Depienne C(18), Worbe Y(19), Hartmann A(19), Muller-Vahl KR(20), Stuhrmann M(21), Aschauer H(22), Stamenkovic M(23), Schloegelhofer M(23), Konstantinidis A(24), Lyon GJ(25), McMahon WM(26), Barta C(27), Tarnok Z(28), Nagy P(28), Batterson JR(29), Rizzo R(30), Cath DC(31), Wolanczyk T(32), Berlin C(33), Malaty IA(34), Okun MS(34), Woods DW(35), Rees E(36), Pato CN(37), Pato MT(37), Knowles JA(38), Posthuma D(39), Pauls DL(7), Cox NJ(3), Neale BM(40), Freimer NB(4), Paschou P(5), Mathews CA(41), Scharf JM(42), Coppola G(43); Tourette Syndrome Association International Consortium for Genetics (TSAICG); Gilles de la Tourette Syndrome GWAS Replication Initiative (GGRI).

    Neuron 21 juin 2017;94:1101-1111.

  • Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

    Depienne C(1,)(2,)(3,)(4,)(5), Nava C(6,)(7,)(8), Keren B(6,)(7), Heide S(7,)(9), Rastetter A(6), Passemard S(10,)(11,)(12), Chantot-Bastaraud S(13), Moutard ML(14,)(15,)(16), Agrawal PB(17), VanNoy G(17), Stoler JM(17), Amor DJ(18,)(19), Billette de Villemeur T(12,)(14,)(15,)(20), Doummar D(14,)(16), Alby C(21,)(22), Cormier-Daire V(23,)(22), Garel C(24), Marzin P(7), Scheidecker S(25), de Saint-Martin A(26,)(27), Hirsch E(26,)(28), Korff C(29), Bottani A(30), Faivre L(31,)(32), Verloes A(11), Orzechowski C(33), Burglen L(12,)(34,)(35), Leheup B(36), Roume J(37), Andrieux J(38), Sheth F(39), Datar C(40), Parker MJ(41), Pasquier L(42), Odent S(42,)(43,)(44), Naudion S(45), Delrue MA(45,)(46), Le Caignec C(47,)(48), Vincent M(47), Isidor B(47,)(48), Renaldo F(10,)(14), Stewart F(49), Toutain A(50), Koehler U(51), Hackl B(52), von Stulpnagel C(52), Kluger G(52,)(53), Mller RS(54,)(55,)(8), Pal D(56,)(8), Jonson T(57), Soller M(58), Verbeek NE(59), van Haelst MM(59), de Kovel C(59), Koeleman B(59,)(60,)(8), Monroe G(59,)(60), van Haaften G(59,)(60); DDD Study, Attie-Bitach T(21,)(22), Boutaud L(21,)(22), Heron D(7,)(9,)(20), Mignot C(61,)(62,)(63,)(64).

    Hum Genet Apr 2017;136:463-479.

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