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Page 1
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
Hathazi D, Griffin H, Jennings MJ, Giunta M, Powell C, Pearce SF, Munro B, Wei W, Boczonadi V, Poulton J, Pyle A, Calabrese C, Gomez-Duran A, Schara U, Pitceathly RDS, Hanna MG, Joost K, Cotta A, Paim JF, Navarro MM, Duff J, Mattman A, Chapman K, Servidei S, Della Marina A, Uusimaa J, Roos A, Mootha V, Hirano M, Tulinius M, Giri M, Hoffmann EP, Lochmüller H, DiMauro S, Minczuk M, Chinnery PF, Müller JS, Horvath R. Hathazi D, et al. Among authors: cotta a. EMBO J. 2020 Dec 1;39(23):e105364. doi: 10.15252/embj.2020105364. Epub 2020 Oct 31. EMBO J. 2020. PMID: 33128823 Free PMC article.
Muscle Biopsy Reporting.
Cotta A, Paim JF. Cotta A, et al. Arch Pathol Lab Med. 2016 Sep;140(9):879. doi: 10.5858/arpa.2016-0070-LE. Arch Pathol Lab Med. 2016. PMID: 27575261 Free article. No abstract available.
Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion.
Cotta A, Alston CL, Baptista-Junior S, Paim JF, Carvalho E, Navarro MM, Appleton M, Ng YS, Valicek J, da-Cunha-Junior AL, Lima MI, de la Rocque Ferreira A, Takata RI, Hargreaves IP, Gorman GS, McFarland R, Pierre G, Taylor RW. Cotta A, et al. JIMD Rep. 2020 Jun 2;54(1):45-53. doi: 10.1002/jmd2.12107. eCollection 2020 Jul. JIMD Rep. 2020. PMID: 32685350 Free PMC article.
Muscle phenotypic variability in limb girdle muscular dystrophy 2 G.
Paim JF, Cotta A, Vargas AP, Navarro MM, Valicek J, Carvalho E, da-Cunha AL Jr, Plentz E, Braz SV, Takata RI, Almeida CF, Vainzof M. Paim JF, et al. Among authors: cotta a. J Mol Neurosci. 2013 Jun;50(2):339-44. doi: 10.1007/s12031-013-9987-6. Epub 2013 Mar 12. J Mol Neurosci. 2013. PMID: 23479141
LMNA-Related Muscular Dystrophy with Clinical Intrafamilial Variability.
Cotta A, Paim JF, Carvalho E, Valicek J, da Cunha Junior AL, Navarro MM, Vargas AP, Lima MI, de Almeida CF, Takata RI, Vainzof M. Cotta A, et al. J Mol Neurosci. 2019 Dec;69(4):623-627. doi: 10.1007/s12031-019-01390-0. Epub 2019 Aug 13. J Mol Neurosci. 2019. PMID: 31410651
Phenotypic Variability of Dystrophinopathy Symptomatic Female Carriers.
Cotta A, Paim JF, Carvalho E, Navarro MM, Valicek J, da-Cunha-Junior AL, Menezes MM, Nunes SV, Xavier-Neto R, da Silveira EB, Costa-E-Silva C, Takata RI, Vargas AP. Cotta A, et al. Can J Neurol Sci. 2017 May;44(3):304-310. doi: 10.1017/cjn.2016.448. Epub 2017 Feb 9. Can J Neurol Sci. 2017. PMID: 28181471
Central core myopathy with autophagy.
Cotta A, Paim JF, Pavanello RCM, Nogueira L, Leão LG, Xavier-Neto R, Navarro MM, Carvalho E, Valicek J, Silveira EB, Takata RI, Vainzof M. Cotta A, et al. Muscle Nerve. 2017 Aug;56(2):E8-E9. doi: 10.1002/mus.25594. Epub 2017 Mar 21. Muscle Nerve. 2017. PMID: 28164363 No abstract available.
Limb Length Discrepancy on an 11-Month-Old Boy with Osteoid Osteoma.
Cotta A, de Castro RCR, Paim JF, Fiuza LS, Lyra MHF. Cotta A, et al. Rev Bras Ortop (Sao Paulo). 2019 Apr;54(2):210-213. doi: 10.1016/j.rboe.2017.11.001. Epub 2019 Apr 22. Rev Bras Ortop (Sao Paulo). 2019. PMID: 31363270 Free PMC article.
28 results