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

Imprimer la liste complète

  • DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum and developmental split brain syndrome.

    Marsh AP(1)(2), Edwards TJ(3)(4), Galea C(5), Cooper HM(3), Engle EC(6)(7)(8)(9)(10)(11), Jamuar SS(6)(7)(8)(12)(13), Meneret A(14)(15), Moutard ML(16)(17)(18), Nava C(14)(19), Rastetter A(14), Robinson G(20), Rouleau G(21)(22), Roze E(14)(15), Spencer-Smith M(23)(24), Trouillard O(14), de Villemeur TB(16)(17)(25)(26), Walsh CA(6)(7)(8)(9)(11)(12), Yu TW(6)(11)(12); IRC5 Consortium(1), Heron D(17)(19), Sherr EH(27), Richards LJ(3)(28), Depienne C(14)(19)(29)(30), Leventer RJ(2)(31)(32), Lockhart PJ(1)(2).

    Hum Mutat 25 octobre 2017.

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

    Kannan M(1)(2)(3)(4)(5), Bayam E(1)(2)(3)(4), Wagner C(1)(2)(3)(4), Rinaldi B(6), Kretz PF(1)(2)(3)(4), Tilly P(1)(2)(3)(4), Roos M(7), McGillewie L(8), Bar S(6), Minocha S(5), Chevalier C(1)(2)(3)(4), Po C(9); Sanger Mouse Genetics Project, Chelly J(1)(2)(3)(4), Mandel JL(1)(2)(3)(4), Borgatti R(10), Piton A(1)(2)(3)(4), Kinnear C(8), Loos B(7), Adams DJ(11), Herault Y(1)(2)(3)(4), Collins SC(1)(2)(3)(4)(12), Friant S(6), Godin JD(1)(2)(3)(4), Yalcin B(13)(2)(3)(4).

    Proc Natl Acad Sci U S A 12 octobre 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.

  • GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

    Platzer K(1), Yuan H(2)(3), Schutz H(4), Winschel A(4), Chen W(2), Hu C(2), Kusumoto H(2), Heyne HO(1), Helbig KL(5), Tang S(5), Willing MC(6), Tinkle BT(7), Adams DJ(8), Depienne C(9)(10)(11)(12), Keren B(9)(10), Mignot C(10), Frengen E(13), Strmme P(14), Biskup S(15), Docker D(15), Strom TM(16), Mefford HC(17), Myers CT(17), Muir AM(17), LaCroix A(17), Sadleir L(18), Scheffer IE(19), Brilstra E(20), van Haelst MM(20), van der Smagt JJ(20), Bok LA(21), Mller RS(22)(23), Jensen UB(24), Millichap JJ(25), Berg AT(25), Goldberg EM(26)(27), De Bie I(28), Fox S(28), Major P(29), Jones JR(30), Zackai EH(31), Abou Jamra R(1)(32), Rolfs A(32), Leventer RJ(33)(34), Lawson JA(35), Roscioli T(36), Jansen FE(37), Ranza E(38), Korff CM(39), Lehesjoki AE(40)(41), Courage C(40)(41), Linnankivi T(42), Smith DR(43), Stanley C(43), Mintz M(44), McKnight D(45), Decker A(45), Tan WH(46), Tarnopolsky MA(47), Brady LI(47), Wolff M(48), Dondit L(49), Pedro HF(50), Parisotto SE(50), Jones KL(51), Patel AD(52)(53), Franz DN(54), Vanzo R(55), Marco E(56), Ranells JD(57), Di Donato N(58), Dobyns WB(59)(60)(61), Laube B(4), Traynelis SF(2)(3), Lemke JR(1).

    J Med Genet Jul 2017;54:460-470.

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Université de Strasbourg
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