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Antenatal manifestations of mitochondrial disorders.
Tavares MV, Santos MJ, Domingues AP, Pratas J, Mendes C, Simões M, Moura P, Diogo L, Grazina M. Tavares MV, et al. Among authors: santos mj. J Inherit Metab Dis. 2013 Sep;36(5):805-11. doi: 10.1007/s10545-012-9567-x. Epub 2013 Jan 30. J Inherit Metab Dis. 2013. PMID: 23361304
Mitochondrial-dependent apoptosis in Huntington's disease human cybrids.
Ferreira IL, Nascimento MV, Ribeiro M, Almeida S, Cardoso SM, Grazina M, Pratas J, Santos MJ, Januário C, Oliveira CR, Rego AC. Ferreira IL, et al. Among authors: santos mj. Exp Neurol. 2010 Apr;222(2):243-55. doi: 10.1016/j.expneurol.2010.01.002. Epub 2010 Jan 14. Exp Neurol. 2010. PMID: 20079354
mtDNA copy number associated with age of onset in familial amyloid polyneuropathy.
Santos D, Santos MJ, Alves-Ferreira M, Coelho T, Sequeiros J, Alonso I, Oliveira P, Sousa A, Lemos C, Grazina M. Santos D, et al. Among authors: santos mj. J Neurol Neurosurg Psychiatry. 2018 Mar;89(3):300-304. doi: 10.1136/jnnp-2017-316657. Epub 2017 Oct 10. J Neurol Neurosurg Psychiatry. 2018. PMID: 29018163
Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.
Bacalhau M, Simões M, Rocha MC, Hardy SA, Vincent AE, Durães J, Macário MC, Santos MJ, Rebelo O, Lopes C, Pratas J, Mendes C, Zuzarte M, Rego AC, Girão H, Wong LC, Taylor RW, Grazina M. Bacalhau M, et al. Among authors: santos mj. Neuromuscul Disord. 2018 Apr;28(4):350-360. doi: 10.1016/j.nmd.2017.11.006. Epub 2017 Nov 23. Neuromuscul Disord. 2018. PMID: 29398297 Free PMC article.
MPV17 Mutations Are Associated With a Quiescent Energetic Metabolic Profile.
Jacinto S, Guerreiro P, de Oliveira RM, Cunha-Oliveira T, Santos MJ, Grazina M, Rego AC, Outeiro TF. Jacinto S, et al. Among authors: santos mj. Front Cell Neurosci. 2021 Mar 17;15:641264. doi: 10.3389/fncel.2021.641264. eCollection 2021. Front Cell Neurosci. 2021. PMID: 33815063 Free PMC article.
758 results