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Médecine translationnelle et neurogénétique

  • Potential pathogenic mechanisms underlying Fragile X Tremor Ataxia Syndrome: RAN translation and/or RNA gain-of-function?

    Boivin M(1), Willemsen R(2), Hukema RK(2), Sellier C(3).

    Eur J Med Genet 6 décembre 2017

  • Prevalence of sexual dimorphism in mammalian phenotypic traits.

    Karp NA(1)(2), Mason J(3), Beaudet AL(4), Benjamini Y(5), Bower L(6), Braun RE(7), Brown SDM(8), Chesler EJ(7), Dickinson ME(9), Flenniken AM(10), Fuchs H(11), Angelis MH(11)(12)(13), Gao X(14), Guo S(14), Greenaway S(8), Heller R(5), Herault Y(15)(16)(17)(18)(19), Justice MJ(20), Kurbatova N(5), Lelliott CJ(21), Lloyd KCK(6), Mallon AM(8), Mank JE(22), Masuya H(23), McKerlie C(10)(24), Meehan TF(3), Mott RF(25), Murray SA(7), Parkinson H(3), Ramirez-Solis R(21), Santos L(8), Seavitt JR(4), Smedley D(26), Sorg T(15)(16)(17)(18)(19), Speak AO(21), Steel KP(21)(27), Svenson KL(7); International Mouse Phenotyping Consortium, Wakana S(23), West D(28), Wells S(8), Westerberg H(8), Yaacoby S(5), White JK(7)(21).

    Nat Commun 26 juin 2017

  • Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems.

    Walmsley GL(1), Blot S(2), Venner K(3), Sewry C(4), Laporte J(5), Blondelle J(2), Barthelemy I(2), Maurer M(2), Blanchard-Gutton N(2), Pilot-Storck F(2), Tiret L(2), Piercy RJ(6).

    Am J Pathol Feb 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

  • Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse.

    Ung DC(1,)(2), Iacono G(3), Meziane H(4), Blanchard E(1,)(5,)(6), Papon MA(1,)(2), Selten M(7), van Rhijn JR(7), Montjean R(8,)(9,)(10,)(11), Rucci J(8,)(9,)(10,)(11), Martin S(12), Fleet A(13), Birling MC(4), Marouillat S(1,)(2), Roepman R(14,)(15), Selloum M(4), Lux A(4), Thepault RA(1,)(2), Hamel P(13), Mittal K(16), Vincent JB(16), Dorseuil O(8,)(9,)(10,)(11), Stunnenberg HG(3), Billuart P(8,)(9,)(10,)(11), Nadif Kasri N(7,)(14), Herault Y(4,)(17,)(18,)(19,)(20), Laumonnier F(1,)(2,)(6).

    Mol Psychiatry 18 avril 2017

  • Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome.

    Huang AY(1), Yu D(2), Davis LK(3), Sul JH(4), Tsetsos F(5), Ramensky V(6), Zelaya I(1), Ramos EM(4), Osiecki L(7), Chen JA(1), McGrath LM(8), Illmann C(7), Sandor P(9), Barr CL(10), Grados M(11), Singer HS(11), Nothen MM(12), Hebebrand J(13), King RA(14), Dion Y(15), Rouleau G(16), Budman CL(17), Depienne C(18), Worbe Y(19), Hartmann A(19), Muller-Vahl KR(20), Stuhrmann M(21), Aschauer H(22), Stamenkovic M(23), Schloegelhofer M(23), Konstantinidis A(24), Lyon GJ(25), McMahon WM(26), Barta C(27), Tarnok Z(28), Nagy P(28), Batterson JR(29), Rizzo R(30), Cath DC(31), Wolanczyk T(32), Berlin C(33), Malaty IA(34), Okun MS(34), Woods DW(35), Rees E(36), Pato CN(37), Pato MT(37), Knowles JA(38), Posthuma D(39), Pauls DL(7), Cox NJ(3), Neale BM(40), Freimer NB(4), Paschou P(5), Mathews CA(41), Scharf JM(42), Coppola G(43); Tourette Syndrome Association International Consortium for Genetics (TSAICG); Gilles de la Tourette Syndrome GWAS Replication Initiative (GGRI).

    Neuron 21 juin 2017

  • 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

  • Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.

    Vasli N(1,)(2,)(3,)(4), Harris E(5), Karamchandani J(6), Bareke E(7,)(8), Majewski J(7,)(8), Romero NB(9,)(10), Stojkovic T(10), Barresi R(5), Tasfaout H(1,)(2,)(3,)(4), Charlton R(5), Malfatti E(9,)(10), Bohm J(1,)(2,)(3,)(4), Marini-Bettolo C(5), Choquet K(7,)(11), Dicaire MJ(11), Shao YH(11), Topf A(5), O'Ferrall E(6), Eymard B(10), Straub V(5), Blanco G(12), Lochmuller H(5), Brais B(7,)(11), Laporte J(13,)(2,)(3,)(4), Tetreault M(14,)(8).

    Brain Jan 2017

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