L'équipe
  • Chercheurs

    Jamel CHELLY

    Anne DE SAINT-MARTIN

    Edouard Franck HIRSCH

    Béatrice LANNES

    Jean-Louis MANDEL

    Hervé MOINE

    Amélie PITON

  • Post-Doctorants

    Florent COLIN

    Maria Victoria HINCKELMANN RIVAS

  • Doctorants

    Jérémie COURRAUD

    Johan GILET

    Karima HABBAS

    Ekaterina IVANOVA

    Francesca MATTIOLI

  • Ingénieurs & Techniciens

    Nathalie DROUOT

    Eric FLATTER

    Timothée MAZZUCOTELLI

    Gabrielle RUDOLF

  • Stagiaire

    Marie-Thérèse ABI WARDE

    Meriam HADJ AMOR

Médecine translationnelle et neurogénétique

Génétique et physiopathologie de maladies neurodéveloppementales et épileptogènes

Publications

Imprimer la liste complète

  • Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.

    Niturad CE(1), Lev D(2)(3)(4), Kalscheuer VM(5)(6), Charzewska A(7), Schubert J(1)(8), Lerman-Sagie T(3)(4)(9), Kroes HY(10), Oegema R(10), Traverso M(11), Specchio N(12), Lassota M(13), Chelly J(14), Bennett-Back O(15), Carmi N(3)(4)(10), Koffler-Brill T(16), Iacomino M(11), Trivisano M(12), Capovilla G(17), Striano P(18), Nawara M(7), Rzonca S(7), Fischer U(5)(6), Bienek M(5), Jensen C(5), Hu H(5), Thiele H(19), Altmuller J(19)(20), Krause R(8), May P(8), Becker F(1); EuroEPINOMICS Consortium, Balling R(8), Biskup S(21), Haas SA(22), Nurnberg P(19), van Gassen KLI(10), Lerche H(1), Zara F(11), Maljevic S(1), Leshinsky-Silver E(2)(3)(16).

    Brain 1 novembre 2017;140:2879-2894.

  • De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

    Kury S(1), van Woerden GM(2), Besnard T(3), Proietti Onori M(2), Latypova X(3), Towne MC(4), Cho MT(5), Prescott TE(6), Ploeg MA(2), Sanders S(7), Stessman HAF(8), Pujol A(9), Distel B(10), Robak LA(11), Bernstein JA(12), Denomme-Pichon AS(13), Lesca G(14), Sellars EA(15), Berg J(16), Carre W(17), Busk L(6), van Bon BWM(18), Waugh JL(19), Deardorff M(20), Hoganson GE(21), Bosanko KB(15), Johnson DS(22), Dabir T(23), Holla L(6), Sarkar A(24), Tveten K(6), de Bellescize J(25), Braathen GJ(6), Terhal PA(26), Grange DK(27), van Haeringen A(28), Lam C(29), Mirzaa G(30), Burton J(21), Bhoj EJ(31), Douglas J(32), Santani AB(33), Nesbitt AI(34), Helbig KL(35), Andrews MV(27), Begtrup A(5), Tang S(36), van Gassen KLI(26), Juusola J(5), Foss K(37), Enns GM(12), Moog U(38), Hinderhofer K(38), Paramasivam N(39), Lincoln S(32), Kusako BH(32), Lindenbaum P(40), Charpentier E(40), Nowak CB(32), Cherot E(17), Simonet T(25), Ruivenkamp CAL(28), Hahn S(29), Brownstein CA(4), Xia F(41), Schmitt S(3), Deb W(3), Bonneau D(13), Nizon M(3), Quinquis D(3), Chelly J(42), Rudolf G(43), Sanlaville D(14), Parent P(44), Gilbert-Dussardier B(45), Toutain A(46), Sutton VR(47), Thies J(48), Peart-Vissers LELM(18), Boisseau P(3), Vincent M(3), Grabrucker AM(49), Dubourg C(17); Undiagnosed Diseases Network, Tan WH(32), Verbeek NE(26), Granzow M(38), Santen GWE(28), Shendure J(50), Isidor B(3), Pasquier L(51), Redon R(40), Yang Y(41), State MW(7), Kleefstra T(18), Cogne B(3); GEM HUGO(52); Deciphering Developmental Disorders Study(53), Petrovski S(54), Retterer K(5), Eichler EE(50), Rosenfeld JA(11), Agrawal PB(55), Bezieau S(56), Odent S(51), Elgersma Y(57), Mercier S(3).

    Am J Hum Genet 2 novembre 2017;101:768-788.

  • Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development.

    Broix L(1)(2)(3)(4)(5), Asselin L(1)(2)(3)(4), Silva CG(6), Ivanova EL(1)(2)(3)(4), Tilly P(1)(2)(3)(4), Gilet JG(1)(2)(3)(4), Lebrun N(5), Jagline H(1)(2)(3)(4), Muraca G(5), Saillour Y(5), Drouot N(1)(2)(3)(4), Reilly ML(7)(8)(9), Francis F(10)(11)(12), Benmerah A(8)(9), Bahi-Buisson N(7)(8), Belvindrah R(10)(11)(12), Nguyen L(6), Godin JD(1)(2)(3)(4), Chelly J(1)(2)(3)(4)(13), Hinckelmann MV(1)(2)(3)(4).

    Hum Mol Genet 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;114:E9308-E9317.

  • WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.

    Cavallin M(1)(2)(3), Rujano MA(1)(2)(4), Bednarek N(5), Medina-Cano D(2)(6), Bernabe Gelot A(7)(8), Drunat S(9), Maillard C(1)(2), Garfa-Traore M(10), Bole C(11), Nitschke P(12), Beneteau C(13), Besnard T(13), Cogne B(13), Eveillard M(14), Kuster A(15), Poirier K(16)(17), Verloes A(9)(18), Martinovic J(19), Bidat L(20), Rio M(21), Lyonnet S(1)(2), Reilly ML(2)(22)(23), Boddaert N(24)(25), Jenneson-Liver M(5), Motte J(5), Doco-Fenzy M(26), Chelly J(27)(28), Attie-Bitach T(1)(2)(21), Simons M(2)(4), Cantagrel V(2)(6), Passemard S(9)(18), Baffet A(29), Thomas S(1)(2), Bahi-Buisson N(1)(2)(3).

    Brain 1 octobre 2017;140:2597-2609.

Imprimer Envoyer

Université de Strasbourg
INSERM
CNRS

IGBMC - CNRS UMR 7104 - Inserm U 964
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