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Publications de Jocelyn LAPORTE

  • Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.

    Biancalana V(1)(2)(3)(4)(5), Scheidecker S(6), Miguet M(6), Laquerriere A(7), Romero NB(8)(9), Stojkovic T(9), Abath Neto O(10), Mercier S(11)(12)(13), Voermans N(14), Tanner L(15), Rogers C(16), Ollagnon-Roman E(17), Roper H(18), Boutte C(19), Ben-Shachar S(20), Lornage X(21)(22)(23)(24), Vasli N(21)(22)(23)(24), Schaefer E(25), Laforet P(26), Pouget J(27), Moerman A(28), Pasquier L(29), Marcorelle P(30)(31), Magot A(13), Kusters B(32), Streichenberger N(33), Tranchant C(34), Dondaine N(6), Schneider R(21)(22)(23)(24)(35), Gasnier C(6), Calmels N(6), Kremer V(36), Nguyen K(37), Perrier J(13), Kamsteeg EJ(38), Carlier P(39), Carlier RY(40), Thompson J(35), Boland A(41), Deleuze JF(41), Fardeau M(8)(9), Zanoteli E(10), Eymard B(26), Laporte J(21)(22)(23)(24).

    Acta Neuropathol 6 juillet 2017

  • Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice.

    Tasfaout H(1)(2)(3)(4), Buono S(1)(2)(3)(4), Guo S(5), Kretz C(1)(2)(3)(4), Messaddeq N(2)(3)(6), Booten S(5), Greenlee S(5), Monia BP(5), Cowling BS(1)(2)(3)(4), Laporte J(1)(2)(3)(4).

    Nat Commun 7 juin 2017

  • 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 16 octobre 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 30 mai 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

  • Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A.

    Mercier S(1), Lornage X(2), Malfatti E(2), Marcorelles P(2), Letournel F(2), Boscher C(2), Caillaux G(2), Magot A(2), Bohm J(2), Boland A(2), Deleuze JF(2), Romero N(2), Pereon Y(2), Laporte J(2).

    Neurology 24 janvier 2017

  • Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.

    Raess MA(1)(2)(3)(4)(5), Cowling BS(1)(2)(3)(4), Bertazzi DL(5), Kretz C(1)(2)(3)(4), Rinaldi B(5), Xuereb JM(6), Kessler P(1)(2)(3)(4), Romero NB(7)(8)(9), Payrastre B(6)(10), Friant S(5), Laporte J(1)(2)(3)(4).

    Hum Mol Genet 1 octobre 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

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