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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.
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.
One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia.
Abrahao A, Abath Neto O, Kok F, Zanoteli E, Santos B, Pinto WB, Barsottini OG, Oliveira AS, Pedroso JL. Abrahao A, et al. Among authors: abath neto o. J Neurol Sci. 2016 Sep 15;368:352-8. doi: 10.1016/j.jns.2016.07.048. Epub 2016 Jul 21. J Neurol Sci. 2016. PMID: 27538664
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Marini Bettolo C, Barresi R, Charlton R, Bönnemann CG, Abath Neto O, Reed UC, Zanoteli E, Araújo Martins Moreno C, Ertl-Wagner B, Stucka R, De Goede C, Borges da Silva T, Hathazi D, Dell'Aica M, Zahedi RP, Thiele S, Müller J, Kingston H, Müller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmüller H, Senderek J. Wiessner M, et al. Among authors: abath neto o. Am J Hum Genet. 2017 Mar 2;100(3):523-536. doi: 10.1016/j.ajhg.2017.01.024. Epub 2017 Feb 9. Am J Hum Genet. 2017. PMID: 28190456 Free PMC article.
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.
23 results