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Page 1
Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms.
Genes (Basel). 2022 Apr 26;13(5):760. doi: 10.3390/genes13050760.
Genes (Basel). 2022.
PMID: 35627144
Free PMC article.
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: navarro mm.
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.
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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. Among authors: navarro mm.
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
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Muscle fat replacement and modified ragged red fibers in two patients with reversible infantile respiratory chain deficiency.
Cotta A, Carvalho E, da-Cunha-Junior A, Navarro MM, Paim JF, Valicek J, Baptista-Junior S, da Silveira EB, Lima MI, Carellos EVM, de-La-Rocque-Ferreira A, Takata RI, Horvath R.
Cotta A, et al. Among authors: navarro mm.
Neuromuscul Disord. 2021 Jun;31(6):551-557. doi: 10.1016/j.nmd.2021.02.017. Epub 2021 Feb 21.
Neuromuscul Disord. 2021.
PMID: 33832841
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