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Médecine translationnelle et neurogénétique

  • CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.

    Bohm J(1), Lornage X(2), Chevessier F(3), Birck C(2), Zanotti S(4), Cudia P(5), Bulla M(6), Granger F(2), Bui MT(7), Sartori M(2), Schneider-Gold C(8), Malfatti E(7), Romero NB(7), Mora M(4), Laporte J(9).

    Acta Neuropathol Jan 2018

  • DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

    Marsh APL(1)(2), Edwards TJ(3)(4), Galea C(5), Cooper HM(3), Engle EC(6)(7)(8)(9)(10)(11), Jamuar SS(6)(7)(8)(12)(13), Meneret A(14)(15), Moutard ML(16)(17)(18), Nava C(14)(19), Rastetter A(14), Robinson G(20), Rouleau G(21)(22), Roze E(14)(15), Spencer-Smith M(23)(24), Trouillard O(14), Billette de Villemeur T(16)(17)(25)(26), Walsh CA(6)(7)(8)(9)(11)(12), Yu TW(6)(11)(12); IRC5 Consortium, Heron D(17)(19), Sherr EH(27), Richards LJ(3)(28), Depienne C(14)(19)(29)(30), Leventer RJ(2)(31)(32), Lockhart PJ(1)(2).

    Hum Mutat Jan 2018

  • Defining the phenotypic spectrum of SLC6A1 mutations.

    Johannesen KM(1)(2), Gardella E(1)(2), Linnankivi T(3), Courage C(4)(5), de Saint Martin A(6)(7), Lehesjoki AE(4)(5), Mignot C(8), Afenjar A(9), Lesca G(10)(11)(12), Abi-Warde MT(6)(7), Chelly J(13)(14), Piton A(13)(14), Merritt JL 2nd(15), Rodan LH(16)(17), Tan WH(16)(17), Bird LM(18), Nespeca M(19), Gleeson JG(20), Yoo Y(21), Choi M(21), Chae JH(22), Czapansky-Beilman D(23), Reichert SC(24), Pendziwiat M(25), Verhoeven JS(26), Schelhaas HJ(26), Devinsky O(27), Christensen J(28), Specchio N(29), Trivisano M(29), Weber YG(30), Nava C(31)(32), Keren B(31)(32), Doummar D(33), Schaefer E(34), Hopkins S(35), Dubbs H(36), Shaw JE(36), Pisani L(36), Myers CT(15), Tang S(37), Tang S(38), Pal DK(38), Millichap JJ(39)(40), Carvill GL(40), Helbig KL(37), Mecarelli O(41), Striano P(42), Helbig I(25)(35), Rubboli G(1)(43), Mefford HC(15), Mller RS(1)(2).

    Epilepsia 8 janvier 2018

  • KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.

    Gueneau L(1), Fish RJ(2), Shamseldin HE(3), Voisin N(1), Tran Mau-Them F(4), Preiksaitiene E(5), Monroe GR(6), Lai A(7), Putoux A(8), Allias F(9), Ambusaidi Q(10), Ambrozaityte L(5), Cimbalistiene L(5), Delafontaine J(11), Guex N(11), Hashem M(3), Kurdi W(10), Jamuar SS(12), Ying LJ(13), Bonnard C(14), Pippucci T(15), Pradervand S(16), Roechert B(11), van Hasselt PM(6), Wiederkehr M(1), Wright CF(17); DDD Study, Xenarios I(16), van Haaften G(6), Shaw-Smith C(18), Schindewolf EM(19), Neerman-Arbez M(2), Sanlaville D(8), Lesca G(8), Guibaud L(20), Reversade B(21), Chelly J(4), Kucinskas V(5), Alkuraya FS(22), Reymond A(23).

    Am J Hum Genet 4 janvier 2018

  • A Fast, Easy, and Customizable Eight-Color Flow Cytometric Method for Analysis of the Cellular Content of Bronchoalveolar Lavage Fluid in the Mouse.

    Daubeuf F(1)(2), Becker J(3), Aguilar-Pimentel JA(4), Ebel C(5), Hrabe de Angelis M(4), Herault Y(3)(5)(6)(7)(8), Frossard N(1)(2).

    Curr Protoc Mouse Biol 19 juin 2017

  • A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.

    Bowl MR(1), Simon MM(1), Ingham NJ(2)(3), Greenaway S(1), Santos L(1), Cater H(1), Taylor S(1), Mason J(4), Kurbatova N(4), Pearson S(3), Bower LR(5), Clary DA(5), Meziane H(6), Reilly P(6), Minowa O(7), Kelsey L(8)(9)(10); International Mouse Phenotyping Consortium, Tocchini-Valentini GP(11), Gao X(12), Bradley A(3), Skarnes WC(3), Moore M(13), Beaudet AL(14), Justice MJ(8)(9)(10)(14), Seavitt J(14), Dickinson ME(15), Wurst W(16), de Angelis MH(17), Herault Y(6)(18)(19)(20), Wakana S(7), Nutter LMJ(8)(9)(10), Flenniken AM(8)(9)(10), McKerlie C(8)(9)(10), Murray SA(21), Svenson KL(21), Braun RE(21), West DB(22), Lloyd KCK(5), Adams DJ(3), White J(3), Karp N(3), Flicek P(4), Smedley D(23), Meehan TF(4), Parkinson HE(4), Teboul LM(1), Wells S(1), Steel KP(2)(3), Mallon AM(1), Brown SDM(24).

    Nat Commun 12 octobre 2017

  • A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family.

    Okutman O(1)(2)(3), Muller J(4)(5), Skory V(1), Garnier JM(6), Gaucherot A(7), Baert Y(8), Lamour V(9), Serdarogullari M(10), Gultomruk M(10), Ropke A(11), Kliesch S(12), Herbepin V(13), Aknin I(14), Benkhalifa M(15), Teletin M(1), Bakircioglu E(16), Goossens E(8), Charlet-Berguerand N(7), Bahceci M(10), Tuttelmann F(11), Viville S(17)(18)(19)(20).

    J Assist Reprod Genet May 2017

  • A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT).

    Giorgio E(1), Vaula G(2), Benna P(3)(4), Lo Buono N(5)(6), Eandi CM(7), Dino D(8), Mancini C(1), Cavalieri S(9), Di Gregorio E(9), Pozzi E(1), Ferrero M(1), Giordana MT(2)(3), Depienne C(10)(11), Brusco A(1)(9).

    J Neurol Neurosurg Psychiatry Oct 2017

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