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Médecine translationnelle et neurogénétique

  • Clinical Gene Therapy for Neurodegenerative Diseases: Past, Present, and Future.

    Piguet F(1)(2)(3), Alves S(4), Cartier N(5)(6).

    Hum Gene Ther Nov 2017

  • Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.

    Abath Neto O(1), Moreno CAM(2), Malfatti E(3), Donkervoort S(4), Bohm J(5), Guimaraes JB(6), Foley AR(4), Mohassel P(4), Dastgir J(4), Bharucha-Goebel DX(4), Monges S(7), Lubieniecki F(7), Collins J(8), Medne L(9), Santi M(10), Yum S(11), Banwell B(11), Salort-Campana E(12), Rendu J(13), Faure J(13), Yis U(14), Eymard B(15), Cheraud C(5), Schneider R(16), Thompson J(17), Lornage X(5), Mesrob L(18), Lechner D(18), Boland A(18), Deleuze JF(18), Reed UC(2), Oliveira ASB(19), Biancalana V(20), Romero NB(3), Bonnemann CG(4), Laporte J(5), Zanoteli E(21).

    Neuromuscul Disord Nov 2017

  • Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein.

    Mariani LL(1)(2), Rivaud-Pechoux S(3), Charles P(1), Ewenczyk C(1), Meneret A(2)(3), Monga BB(4), Fleury MC(5)(6)(7), Hainque E(8)(9)(10), Maisonobe T(11), Degos B(2), Echaniz-Laguna A(5)(12), Renaud M(5)(6)(7), Wirth T(5), Grabli D(2)(9), Brice A(1)(9)(10), Vidailhet M(2)(9)(10), Stoppa-Lyonnet D(13)(14), Dubois-d'Enghien C(13), Le Ber I(2)(9), Koenig M(15), Roze E(2)(9)(10), Tranchant C(5)(6)(7), Durr A(1)(9)(10), Gaymard B(16), Anheim M(17)(18)(19)(20).

    Sci Rep 10 novembre 2017

  • Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.

    Heide S(1), Keren B(2), Billette de Villemeur T(3), Chantot-Bastaraud S(4), Depienne C(5), Nava C(6), Mignot C(7), Jacquette A(7), Fonteneau E(2), Lejeune E(2), Mach C(2), Marey I(7), Whalen S(8), Lacombe D(9), Naudion S(9), Rooryck C(9), Toutain A(10), Caignec CL(11), Haye D(12), Olivier-Faivre L(13), Masurel-Paulet A(13), Thauvin-Robinet C(13), Lesne F(7), Faudet A(7), Ville D(14), des Portes V(14), Sanlaville D(15), Siffroi JP(4), Moutard ML(3), Heron D(16).

    J Pediatr 8 mars 2017

  • Corrigendum to "Fragile X syndrome: Are signaling lipids the missing culprits?" [Biochimie 130C (2016) 188-194].

    Tabet R(1), Vitale N(2), Moine H(3).

    Biochimie Apr 2017

  • De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

    Kury S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Craigen WJ, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho MT, Roeder E, Denomme-Pichon AS, Monaghan KG, Yuan B, Xia F, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Pasquier L, Barbouth D, Shaw CA, Patel A, Smith JL, Bi W, Schmitt S, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Malan V, Briceno I, Gomez A, Nugent KM, Gibson JB, Cogne B, Lupski JR, Stessman HA, Eichler EE, Retterer K, Yang Y, Redon R, Katsanis N, Rosenfeld JA, Kloetzel PM, Golzio C, Bezieau S, Stankiewicz P, Isidor B.

    Am J Hum Genet 6 avril 2017

  • 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

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