L'équipe
  • Chercheurs

    Christel DEPIENNE

    Binnaz YALCIN

  • Doctorants

    Perrine KRETZ

  • Ingénieurs & Techniciens

    Marie-Christine FISCHER

Médecine translationnelle et neurogénétique

Base génétique des maladies cognitives

Publications

Imprimer la liste complète

  • HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

    Marini C(1)(2), Porro A(3), Rastetter A(4), Dalle C(4), Rivolta I(5), Bauer D(6), Oegema R(7), Nava C(2)(4)(8), Parrini E(1), Mei D(1), Mercer C(9), Dhamija R(10), Chambers C(11), Coubes C(12), Thevenon J(13), Kuentz P(13)(14), Julia S(15), Pasquier L(16), Dubourg C(17), Carre W(17), Rosati A(1), Melani F(1), Pisano T(1), Giardino M(1), Innes AM(18), Alembik Y(19), Scheidecker S(19), Santos M(20), Figueiroa S(20), Garrido C(20), Fusco C(21), Frattini D(21), Spagnoli C(21), Binda A(5), Granata T(22), Ragona F(22), Freri E(22), Franceschetti S(22), Canafoglia L(22), Castellotti B(22), Gellera C(22), Milanesi R(23), Mancardi MM(24), Clark DR(25), Kok F(26), Helbig KL(27), Ichikawa S(28), Sadler L(29), Neupauerova J(30), Lassuthova P(30), Sterbova K(2)(30), Laridon A(31), Brilstra E(2)(7), Koeleman B(2)(7), Lemke JR(2)(32), Zara F(33), Striano P(2)(34), Soblet J(35)(36)(37), Smits G(35)(36)(37), Deconinck N(38), Barbuti A(23), DiFrancesco D(23), LeGuern E(2)(4)(8), Guerrini R(1)(2), Santoro B(39), Hamacher K(6), Thiel G(40), Moroni A(3), DiFrancesco JC(22)(41), Depienne C(2)(4)(42)(43).

    Brain 1 novembre 2018;141:3160-3178.

  • Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci.

    Lilue J(1)(2), Doran AG(1)(2), Fiddes IT(3), Abrudan M(2), Armstrong J(3), Bennett R(1), Chow W(2), Collins J(2), Collins S(4)(5), Czechanski A(6), Danecek P(2), Diekhans M(3), Dolle DD(2), Dunn M(2), Durbin R(2)(7), Earl D(3), Ferguson-Smith A(7), Flicek P(1)(2), Flint J(8), Frankish A(1)(2), Fu B(2), Gerstein M(9), Gilbert J(2), Goodstadt L(10), Harrow J(2), Howe K(2), Ibarra-Soria X(2), Kolmogorov M(11), Lelliott CJ(2), Logan DW(2), Loveland J(1)(2), Mathews CE(12), Mott R(13), Muir P(9), Nachtweide S(14), Navarro FCP(9), Odom DT(15)(16), Park N(2), Pelan S(2), Pham SK(17), Quail M(2), Reinholdt L(6), Romoth L(14), Shirley L(2), Sisu C(9)(18), Sjoberg-Herrera M(19), Stanke M(14), Steward C(2), Thomas M(2), Threadgold G(2), Thybert D(1)(20), Torrance J(2), Wong K(2), Wood J(2), Yalcin B(4), Yang F(2), Adams DJ(2), Paten B(3), Keane TM(21)(22)(23).

    Nat Genet 1 octobre 2018.

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

    Marsh APL(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), Billette de Villemeur T(16)(17)(25)(26), Walsh CA(6)(7)(8)(9)(11)(12), Yu TW(6)(11)(12); IRC5 Consortium, 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 Jan 2018;39:23-39.

  • 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;114:E9308-E9317.

Imprimer Envoyer

Université de Strasbourg
INSERM
CNRS

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