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Médecine translationnelle et neurogénétique

  • 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

  • Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work.

    Gebus O(1), Montaut S(1), Monga B(2), Wirth T(1), Cheraud C(1), Alves Do Rego C(1), Zinchenko I(1), Carre G(1), Hamdaoui M(1), Hautecloque G(1), Nguyen-Them L(3), Lannes B(4), Chanson JB(1)(5), Lagha-Boukbiza O(1)(5), Fleury MC(1)(5), Devys D(6), Nicolas G(7)(8)(9), Rudolf G(1)(5)(10), Bereau M(11), Mallaret M(12), Renaud M(1)(5), Acquaviva C(13), Koenig M(14), Koob M(15), Kremer S(15), Namer IJ(16), Cazeneuve C(17), Echaniz-Laguna A(1)(5), Tranchant C(1)(5)(10), Anheim M(18)(19)(20).

    J Neurol Jun 2017

  • Deciphering the Role of Oncogenic MITFE318K in Senescence Delay and Melanoma Progression.

    Bonet C(1)(2), Luciani F(3)(4), Ottavi JF(1)(2), Leclerc J(1)(2), Jouenne FM(5), Boncompagni M(1)(2), Bille K(1)(2), Hofman V(2)(6), Bossis G(7), Marco de Donatis G(8), Strub T(9), Cheli Y(1)(2), Ohanna M(1)(2), Luciano F(10), Marchetti S(10), Rocchi S(1)(2), Birling MC(1)(11), Avril MF(12), Poulalhon N(13), Luc T(13), Bertolotto C(1)(2).

    J Natl Cancer Inst 1 août 2017

  • Differential behavioral and molecular alterations upon protracted abstinence from cocaine versus morphine, nicotine, THC and alcohol.

    Becker JAJ(1)(2), Kieffer BL(1)(3), Le Merrer J(1)(2).

    Addict Biol Sep 2017

  • Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.

    Schartner V(1,)(2,)(3,)(4), Romero NB(5,)(6), Donkervoort S(7), Treves S(8,)(9), Munot P(10), Pierson TM(11,)(12), Dabaj I(13,)(14,)(15), Malfatti E(5,)(6), Zaharieva IT(10), Zorzato F(8,)(9), Abath Neto O(1,)(7), Brochier G(5,)(6), Lornage X(1,)(2,)(3,)(4), Eymard B(16), Taratuto AL(17), Bohm J(1,)(2,)(3,)(4), Gonorazky H(18), Ramos-Platt L(19), Feng L(10), Phadke R(10), Bharucha-Goebel DX(7,)(20), Sumner CJ(21,)(22), Bui MT(5,)(6), Lacene E(5,)(6), Beuvin M(5,)(6), Labasse C(5,)(6), Dondaine N(23), Schneider R(1,)(2,)(3,)(4,)(24), Thompson J(24), Boland A(25), Deleuze JF(25), Matthews E(10), Pakleza AN(26), Sewry CA(10), Biancalana V(1,)(2,)(3,)(4,)(23), Quijano-Roy S(13,)(14,)(15,)(27), Muntoni F(10), Fardeau M(5,)(6), Bonnemann CG(7), Laporte J(28,)(29,)(30,)(31).

    Acta Neuropathol Apr 2017

  • Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium.

    Meehan TF(1), Conte N(1), West DB(2), Jacobsen JO(3), Mason J(1), Warren J(1), Chen CK(1), Tudose I(1), Relac M(1), Matthews P(1), Karp N(4), Santos L(5), Fiegel T(5), Ring N(5), Westerberg H(5), Greenaway S(5), Sneddon D(5), Morgan H(5), Codner GF(5), Stewart ME(5), Brown J(5), Horner N(5); International Mouse Phenotyping Consortium, Haendel M(6), Washington N(7), Mungall CJ(7), Reynolds CL(8), Gallegos J(8), Gailus-Durner V(9), Sorg T(10)(11)(12)(13), Pavlovic G(10)(11)(12)(13), Bower LR(14), Moore M(15), Morse I(16), Gao X(17), Tocchini-Valentini GP(18), Obata Y(19), Cho SY(20)(21), Seong JK(20)(22), Seavitt J(8), Beaudet AL(8), Dickinson ME(8), Herault Y(10)(11)(12)(13), Wurst W(9), de Angelis MH(9), Lloyd KCK(14), Flenniken AM(23), Nutter LMJ(23), Newbigging S(23), McKerlie C(23), Justice MJ(24), Murray SA(25), Svenson KL(25), Braun RE(25), White JK(4), Bradley A(4), Flicek P(1), Wells S(5), Skarnes WC(4), Adams DJ(4), Parkinson H(1), Mallon AM(5), Brown SDM(5), Smedley D(3).

    Nat Genet Aug 2017

  • Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1.

    Kouwenberg C(1), Bohm J(2), Erasmus C(3), van Balken I(1), Vos S(4), Kusters B(5), Kamsteeg EJ(6), Biancalana V(2)(7), Koch C(2), Dondaine N(7), Laporte J(2), Voermans N(1).

    J Neuromuscul Dis 30 octobre 2017

  • Dry ice is a reliable substrate for the distribution of frozen mouse spermatozoa: A multi-centric study.

    Raspa M(1), Guan M(2), Paoletti R(3), Montoliu L(4), Ayadi A(5), Marschall S(6); EMMA/Infrafrontier Technical Working Group, Fray M(2), Scavizzi F(7).

    Theriogenology 1 juillet 2017

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