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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: oliveira asb. 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. Neuromuscul Disord. 2001 Mar;11(2):154-62. doi: 10.1016/s0960-8966(00)00177-2. Neuromuscul Disord. 2001. PMID: 11257471
DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy.
Abath Neto O, Martins Cde A, Carvalho M, Chadi G, Seitz KW, Oliveira AS, Reed UC, Laporte J, Zanoteli E. Abath Neto O, et al. Genet Mol Biol. 2015 May;38(2):147-51. doi: 10.1590/S1415-4757382220140238. Epub 2015 May 1. Genet Mol Biol. 2015. PMID: 26273216 Free PMC article.
235 results