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Page 1
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: zanoteli e. 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
Temporomandibular joint involvement in a patient with centronuclear myopathy.
Zanoteli E, Guimarães AS, Martins RJ, Yamashita HK, Toledo CS, Oliveira AS, Gabbai AA. Zanoteli E, et al. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2000 Jul;90(1):118-21. doi: 10.1067/moe.2000.107051. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2000. PMID: 10884647
Nebulin expression in patients with nemaline myopathy.
Gurgel-Giannetti J, Reed U, Bang ML, Pelin K, Donner K, Marie SK, Carvalho M, Fireman MA, Zanoteli E, Oliveira AS, Zatz M, Wallgren-Pettersson C, Labeit S, Vainzof M. Gurgel-Giannetti J, et al. Among authors: zanoteli e. Neuromuscul Disord. 2001 Mar;11(2):154-62. doi: 10.1016/s0960-8966(00)00177-2. Neuromuscul Disord. 2001. PMID: 11257471
Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy.
Zanoteli E, Laporte J, Rocha JC, Kretz C, Oliveira AS, Mandel JL, Perez AB, Gabbai AA, Buj-Bello A. Zanoteli E, et al. Am J Med Genet A. 2005 Apr 30;134(3):338-40. doi: 10.1002/ajmg.a.30574. Am J Med Genet A. 2005. PMID: 15690409 No abstract available.
166 results