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Publications de Jocelyn LAPORTE

  • 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

  • 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

  • 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

  • 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

  • Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.

    Lornage X(1,)(2,)(3,)(4), Malfatti E(5,)(6,)(7), Cheraud C(1,)(2,)(3,)(4), Schneider R(1,)(2,)(3,)(4,)(8), Biancalana V(1,)(2,)(3,)(4,)(9), Cuisset JM(10), Garibaldi M(6,)(11,)(12), Eymard B(5,)(7), Fardeau M(5,)(6,)(7), Boland A(1,)(3), Deleuze JF(13), Thompson J(8), Carlier RY(14,)(15), Bohm J(1,)(2,)(3,)(4), Romero NB(5,)(6,)(7), Laporte J(1,)(2,)(3,)(4).

    Ann Neurol 21 février 2017

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