M. J. Santos

发表

Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.

L. Diogo, P. Garcia, M. Grazina, 2016, Mitochondrion.

Identi fi cation of a novel deletion in SURF 1 gene : Heterogeneity in Leigh syndrome with COX de fi ciency

L. Diogo, P. Garcia, M. Grazina, 2016 .

In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes.

L. Diogo, M. Grazina, J. Pratas, 2017, European journal of medical genetics.

Genetic Variation of MT-ND Genes in Frontotemporal Lobar Degeneration: Biochemical Phenotype-Genotype Correlation

I. Santana, M. Grazina, D. Duro, 2015, Neurodegenerative Diseases.

mtDNA copy number associated with age of onset in familial amyloid polyneuropathy

P. Oliveira, A. Sousa, C. Lemos, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

MPV17 Mutations Are Associated With a Quiescent Energetic Metabolic Profile

T. Cunha-Oliveira, R. M. de Oliveira, A. Rego, 2021, Frontiers in Cellular Neuroscience.

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

Robert W. Taylor, A. Rego, L. Wong, 2017, Neuromuscular Disorders.

Girao H, Wong LJC, Taylor RW, Grazina M. Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A

Robert W. Taylor, A. Rego, L. Wong, 2018 .

Antenatal manifestations of mitochondrial disorders

L. Diogo, M. Grazina, A. P. Domingues, 2013, Journal of Inherited Metabolic Disease.

Mitochondrial-dependent apoptosis in Huntington's disease human cybrids

C. Januário, C. Oliveira, I. Ferreira, 2010, Experimental Neurology.