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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

  • 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

  • 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 13 mai 2017

  • IFN-beta-induced reactive oxygen species and mitochondrial damage contribute to muscle impairment and inflammation maintenance in dermatomyositis.

    Meyer A(1)(2)(3), Laverny G(4)(5), Allenbach Y(6), Grelet E(4)(5), Ueberschlag V(4)(5), Echaniz-Laguna A(7), Lannes B(8), Alsaleh G(4), Charles AL(9)(4), Singh F(9)(4), Zoll J(9)(4), Lonsdorfer E(9)(4), Maurier F(10), Boyer O(11), Gottenberg JE(12)(4), Nicot AS(4)(5), Laporte J(4)(5), Benveniste O(6), Metzger D(4)(5), Sibilia J(12)(4), Geny B(9)(4).

    Acta Neuropathol 16 juin 2017

  • Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation.

    Abath Neto O(1), Heise CO(1), Moreno CA(1), Estephan EP(1), Mesrob L(2), Lechner D(2), Boland A(2), Deleuze JF(2), Oliveira AS(3), Reed UC(1), Biancalana V(4), Laporte J(5), Zanoteli E(6).

    Can J Neurol Sci Jan 2017

  • ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.

    Bohm J(1,)(2,)(3,)(4,)(5), Bulla M(6), Urquhart JE(7,)(8), Malfatti E(9,)(10), Williams SG(7), O'Sullivan J(7,)(8), Szlauer A(6), Koch C(1,)(2,)(3,)(4,)(5), Baranello G(11), Mora M(12), Ripolone M(13), Violano R(13), Moggio M(13), Kingston H(7), Dawson T(14), DeGoede CG(15), Nixon J(16), Boland A(17), Deleuze JF(17), Romero N(9,)(10), Newman WG(7,)(8), Demaurex N(6), Laporte J(1,)(2,)(3,)(4,)(5).

    Hum Mutat Apr 2017

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