4 départements de recherche
750 employés
45 nationalités
55 équipes de recherche
16 lauréats ERC
260 publications par an
24000 m² de laboratoires

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Publications de Jamel CHELLY

  • A novel recurrent LIS1 splice site mutation in classic lissencephaly.

    Philbert M(1,)(2), Maillard C(1,)(2), Cavallin M(1,)(2), Goldenberg A(3), Masson C(4), Boddaert N(5,)(6), El Morjani A(1,)(7), Steffann J(1,)(7), Chelly J(8,)(9,)(10,)(11,)(12), Gerard X(1,)(13), Bahi-Buisson N(1,)(2,)(14).

    Am J Med Genet A Feb 2017

  • 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

  • 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

  • Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

    Ivanova EL(1), Mau-Them FT(2), Riazuddin S(3), Kahrizi K(4), Laugel V(5), Schaefer E(6), de Saint Martin A(7), Runge K(1), Iqbal Z(8), Spitz MA(5), Laura M(9), Drouot N(1), Gerard B(9), Deleuze JF(10), de Brouwer APM(11), Razzaq A(12), Dollfus H(6), Assir MZ(13), Nitchke P(14), Hinckelmann MV(1), Ropers H(15), Riazuddin S(13), Najmabadi H(4), van Bokhoven H(11), Chelly J(16).

    Am J Hum Genet 7 septembre 2017

  • Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.

    Laquerriere A(1), Maillard C(1), Cavallin M(1), Chapon F(1), Marguet F(1), Molin A(1), Sigaudy S(1), Blouet M(1), Benoist G(1), Fernandez C(1), Poirier K(1), Chelly J(1), Thomas S(1), Bahi-Buisson N(1).

    J Neuropathol Exp Neurol 1 mars 2017

  • Protein Kinase A deregulation in the medial prefrontal cortex impairs working memory in murine Oligophrenin1 deficiency.

    Zhang CL(1), Aime M(2), Laheranne E(2), Houbaert X(2), El Oussini H(2), Martin C(2), Lepleux M(2), Normand E(3), Chelly J(4)(5), Herzog E(2), Billuart P(4), Humeau Y(6).

    J Neurosci 13 octobre 2017

  • Severe early-onset impulsive compulsive behavior and psychosis in PLA2G6-related juvenile Parkinson's disease.

    Wirth T(1), Weibel S(2), Montaut S(3), Bigaut K(1), Rudolf G(1), Chelly J(4), Tranchant C(5), Anheim M(6).

    Parkinsonism Relat Disord Aug 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

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