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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. 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
A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.
Estephan EP, Sobreira CFDR, Dos Santos ACJ, Tomaselli PJ, Marques W Jr, Ortega RPM, Costa MCM, da Silva AMS, Mendonça RH, Caldas VM, Zambon AA, Abath Neto O, Marchiori PE, Heise CO, Reed UC, Azuma Y, Töpf A, Lochmüller H, Zanoteli E. Estephan EP, et al. Among authors: abath neto o. J Neurol. 2018 Mar;265(3):708-713. doi: 10.1007/s00415-018-8736-8. Epub 2018 Jan 30. J Neurol. 2018. PMID: 29383513 Free PMC article.
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.
Limb-girdle muscular dystrophy type 2A in Brazilian children.
Albuquerque MA, Abath Neto O, Silva FM, Zanoteli E, Reed UC. Albuquerque MA, et al. Among authors: abath neto o. Arq Neuropsiquiatr. 2015 Dec;73(12):993-7. doi: 10.1590/0004-282X20150168. Arq Neuropsiquiatr. 2015. PMID: 26677118 Free article.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Schartner V, Romero NB, Donkervoort S, Treves S, Munot P, Pierson TM, Dabaj I, Malfatti E, Zaharieva IT, Zorzato F, Abath Neto O, Brochier G, Lornage X, Eymard B, Taratuto AL, Böhm J, Gonorazky H, Ramos-Platt L, Feng L, Phadke R, Bharucha-Goebel DX, Sumner CJ, Bui MT, Lacene E, Beuvin M, Labasse C, Dondaine N, Schneider R, Thompson J, Boland A, Deleuze JF, Matthews E, Pakleza AN, Sewry CA, Biancalana V, Quijano-Roy S, Muntoni F, Fardeau M, Bönnemann CG, Laporte J. Schartner V, et al. Among authors: abath neto o. Acta Neuropathol. 2017 Apr;133(4):517-533. doi: 10.1007/s00401-016-1656-8. Epub 2016 Dec 23. Acta Neuropathol. 2017. PMID: 28012042
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: abath neto o. Acta Neuropathol. 2017 Dec;134(6):889-904. doi: 10.1007/s00401-017-1748-0. Epub 2017 Jul 6. Acta Neuropathol. 2017. PMID: 28685322
23 results