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Médecine translationnelle et neurogénétique

  • 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

  • Histone propionylation is a mark of active chromatin.

    Kebede AF(1)(2), Nieborak A(3), Shahidian LZ(3), Le Gras S(1), Richter F(2)(4), Gomez DA(3)(5), Baltissen MP(6), Meszaros G(1)(7)(8), Magliarelli HF(1), Taudt A(9)(10), Margueron R(11), Colome-Tatche M(9)(10)(12), Ricci R(1)(7)(8), Daujat S(1), Vermeulen M(6), Mittler G(2), Schneider R(1)(3)(13).

    Nat Struct Mol Biol Dec 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

  • HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

    Echaniz-Laguna A(1), Lornage X(2), Lannes B(3), Schneider R(4), Bierry G(5), Dondaine N(6), Boland A(7), Deleuze JF(7), Bohm J(2), Thompson J(4), Laporte J(2), Biancalana V(2)(6).

    Acta Neuropathol Jul 2017

  • IFN-beta-induced reactive oxygen species and mitochondrial damage contribute to muscle impairment and inflammation maintenance in dermatomyositis.

    Meyer A(1)(2)(3), Laverny G(4)(5), Allenbach Y(6), Grelet E(4)(5), Ueberschlag V(4)(5), Echaniz-Laguna A(7), Lannes B(8), Alsaleh G(4), Charles AL(9)(4), Singh F(9)(4), Zoll J(9)(4), Lonsdorfer E(9)(4), Maurier F(10), Boyer O(11), Gottenberg JE(12)(4), Nicot AS(4)(5), Laporte J(4)(5), Benveniste O(6), Metzger D(4)(5), Sibilia J(12)(4), Geny B(9)(4).

    Acta Neuropathol Oct 2017

  • Integrated transcriptional analysis unveils the dynamics of cellular differentiation in the developing mouse hippocampus.

    Iacono G(1), Benevento M(2)(3)(4), Dubos A(5), Herault Y(5), van Bokhoven H(2)(3)(4), Nadif Kasri N(2)(3)(4), Stunnenberg HG(6).

    Sci Rep 22 décembre 2017

  • Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

    Quartier A(1,)(2,)(3,)(4), Poquet H(5,)(6), Gilbert-Dussardier B(7), Rossi M(8), Casteleyn AS(9), Portes VD(10), Feger C(11), Nourisson E(11), Kuentz P(5,)(6), Redin C(1,)(2,)(3,)(4), Thevenon J(5,)(6), Mosca-Boidron AL(12), Callier P(12), Muller J(11,)(13), Lesca G(8), Huet F(6), Geoffroy V(13), El Chehadeh S(6,)(14), Jung M(1,)(2,)(3,)(4), Trojak B(15), Le Gras S(1,)(2,)(3,)(4), Lehalle D(5), Jost B(1,)(2,)(3,)(4), Maury S(14), Masurel A(6), Edery P(8), Thauvin-Robinet C(5,)(6), Gerard B(11), Mandel JL(1,)(2,)(3,)(4,)(11,)(16,)(17), Faivre L(5,)(6), Piton A(1,)(11).

    Eur J Hum Genet Apr 2017

  • Introduction to Mammalian Genome Special Issue: Genome Editing.

    Teboul L(1), Herault Y(2)(3)(4)(5)(6), Smith C(7), Whitelaw B(8).

    Mamm Genome Aug 2017

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