The Team
  • Researchers

    Christel DEPIENNE

    Jean-Louis MANDEL

    Hervé MOINE

    Amélie PITON

  • Post-Doctoral Fellows

    Florent COLIN

    Andréa GEOFFROY

  • Phd Students

    Francesca MATTIOLI

    Angélique QUARTIER

  • Engineers & Technicians

    Eric FLATTER

  • Ingenieur Informaticien

    Timothée MAZZUCOTELLI

Translational medicine and neurogenetics

Genetic mechanisms of neurodevelopmental disorders

Publications

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  • A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.

    Masurel-Paulet A(1,)(2), Piton A(3,)(4), Chancenotte S(5), Redin C(3,)(4), Thauvin-Robinet C(1,)(2), Henrenger Y(4), Minot D(1), Creppy A(3,)(4), Ruffier-Bourdet M(5), Thevenon J(1,)(2), Kuentz P(2), Lehalle D(1), Curie A(6), Blanchard G(6), Ghosn E(7), Bonnet M(5), Archimbaud-Devilliers M(5), Huet F(1,)(2), Perret O(8), Philip N(8), Mandel JL(3,)(4), Faivre L(1,)(2).

    Am J Med Genet A June 3, 2016;170:2103-2110.

  • Expanding the Phenotype Associated with NAA10 Related N-terminal Acetylation Deficiency.

    Saunier C(1,)(2), Støve SI(3,)(4), Popp B(5), Gérard B(6), Blenski M(3), AhMew N(7), de Bie C(8), Goldenberg P(9), Isidor B(10,)(11), Keren B(12,)(13), Leheup B(14), Lampert L(14), Mignot C(15), Tezcan K(16), Mancini GM(17), Nava C(12,)(13), Wasserstein M(18), Bruel AL(19,)(20), Thevenon J(1,)(19,)(20), Masurel A(1,)(19), Duffourd Y(19,)(20), Kuentz P(19,)(20), Huet F(2,)(19,)(20), Rivière JB(19,)(20,)(21), van Slegtenhorst M(17), Faivre L(1,)(19,)(20), Piton A(6), Reis A(5), Arnesen T(3,)(4), Thauvin-Robinet C(1,)(19,)(20), Zweier C(5).

    Hum Mutat April 20, 2016;37:755-64.

  • Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

    Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sá J, Mendonça C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S.

    Neurology May 6, 2016;86:2171-8.

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