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HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.
Echaniz-Laguna A, Lornage X, Lannes B, Schneider R, Bierry G, Dondaine N, Boland A, Deleuze JF, Böhm J, Thompson J, Laporte J, Biancalana V. Echaniz-Laguna A, et al. Among authors: lornage x. Acta Neuropathol. 2017 Jul;134(1):163-165. doi: 10.1007/s00401-017-1724-8. Epub 2017 May 13. Acta Neuropathol. 2017. PMID: 28501893 No abstract available.
Asymmetric muscle weakness due to ACTA1 mosaic mutations.
Lornage X, Quijano-Roy S, Amthor H, Carlier RY, Monnier N, Deleuze JF, Romero NB, Laporte J, Böhm J. Lornage X, et al. Neurology. 2020 Dec 15;95(24):e3406-e3411. doi: 10.1212/WNL.0000000000010947. Epub 2020 Sep 28. Neurology. 2020. PMID: 32989108
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.
Lornage X, Malfatti E, Chéraud C, Schneider R, Biancalana V, Cuisset JM, Garibaldi M, Eymard B, Fardeau M, Boland A, Deleuze JF, Thompson J, Carlier RY, Böhm J, Romero NB, Laporte J. Lornage X, et al. Ann Neurol. 2017 Mar;81(3):467-473. doi: 10.1002/ana.24900. Epub 2017 Mar 20. Ann Neurol. 2017. PMID: 28220527
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Biancalana V, Scheidecker S, Miguet M, Laquerrière A, Romero NB, Stojkovic T, Abath Neto O, Mercier S, Voermans N, Tanner L, Rogers C, Ollagnon-Roman E, Roper H, Boutte C, Ben-Shachar S, Lornage X, Vasli N, Schaefer E, Laforet P, Pouget J, Moerman A, Pasquier L, Marcorelle P, Magot A, Küsters B, Streichenberger N, Tranchant C, Dondaine N, Schneider R, Gasnier C, Calmels N, Kremer V, Nguyen K, Perrier J, Kamsteeg EJ, Carlier P, Carlier RY, Thompson J, Boland A, Deleuze JF, Fardeau M, Zanoteli E, Eymard B, Laporte J. Biancalana V, et al. Among authors: lornage x. Acta Neuropathol. 2017 Dec;134(6):889-904. doi: 10.1007/s00401-017-1748-0. Epub 2017 Jul 6. Acta Neuropathol. 2017. PMID: 28685322
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.
Abath Neto O, Moreno CAM, Malfatti E, Donkervoort S, Böhm J, Guimarães JB, Foley AR, Mohassel P, Dastgir J, Bharucha-Goebel DX, Monges S, Lubieniecki F, Collins J, Medne L, Santi M, Yum S, Banwell B, Salort-Campana E, Rendu J, Fauré J, Yis U, Eymard B, Cheraud C, Schneider R, Thompson J, Lornage X, Mesrob L, Lechner D, Boland A, Deleuze JF, Reed UC, Oliveira ASB, Biancalana V, Romero NB, Bönnemann CG, Laporte J, Zanoteli E. Abath Neto O, et al. Among authors: lornage x. Neuromuscul Disord. 2017 Nov;27(11):975-985. doi: 10.1016/j.nmd.2017.05.016. Epub 2017 May 30. Neuromuscul Disord. 2017. PMID: 28818389
ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).
Lornage X, Romero NB, Grosgogeat CA, Malfatti E, Donkervoort S, Marchetti MM, Neuhaus SB, Foley AR, Labasse C, Schneider R, Carlier RY, Chao KR, Medne L, Deleuze JF, Orlikowski D, Bönnemann CG, Gupta VA, Fardeau M, Böhm J, Laporte J. Lornage X, et al. Acta Neuropathol. 2019 Mar;137(3):501-519. doi: 10.1007/s00401-019-01963-8. Epub 2019 Jan 30. Acta Neuropathol. 2019. PMID: 30701273 Free PMC article.
Clinical, histological, and genetic characterization of PYROXD1-related myopathy.
Lornage X, Schartner V, Balbueno I, Biancalana V, Willis T, Echaniz-Laguna A, Scheidecker S, Quinlivan R, Fardeau M, Malfatti E, Lannes B, Sewry C, Romero NB, Laporte J, Böhm J. Lornage X, et al. Acta Neuropathol Commun. 2019 Aug 27;7(1):138. doi: 10.1186/s40478-019-0781-8. Acta Neuropathol Commun. 2019. PMID: 31455395 Free PMC article.
25 results