4 départements de recherche
750 employés
45 nationalités
55 équipes de recherche
16 lauréats ERC
260 publications par an
24000 m² de laboratoires

Soutenez-nous via

Fondation universite de Strasbourg

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

  • Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation.

    Cowling BS(1)(2)(3)(4), Prokic I(1)(2)(3)(4), Tasfaout H(1)(2)(3)(4), Rabai A(1)(2)(3)(4), Humbert F(5), Rinaldi B(6), Nicot AS(1)(2)(3)(4), Kretz C(1)(2)(3)(4), Friant S(6), Roux A(5)(7), Laporte J(1)(2)(3)(4).

    J Clin Invest 13 novembre 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

  • Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1.

    Kouwenberg C(1), Bohm J(2), Erasmus C(3), van Balken I(1), Vos S(4), Kusters B(5), Kamsteeg EJ(6), Biancalana V(2)(7), Koch C(2), Dondaine N(7), Laporte J(2), Voermans N(1).

    J Neuromuscul Dis 30 octobre 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

Imprimer Envoyer

Université de Strasbourg
INSERM
CNRS

IGBMC - CNRS UMR 7104 - Inserm U 964
1 rue Laurent Fries / BP 10142 / 67404 Illkirch CEDEX / France Tél +33 (0)3 88 65 32 00 / Fax +33 (0)3 88 65 32 01 / directeur.igbmc@igbmc.fr