Publications
Information about journal articles, updated at 06-04-2025, from platform CIÊNCIAVITAE.
GenEye24: Novel rapid screening test for the top-3 Leber's Hereditary Optic Neuropathy pathogenic sequence variants
Martins, S.; Santos, M.J.; Teixeira, M.; Diogo, L.; do Carmo Macário, M.; Marques, J.P.; Fonseca, P.; Grazina, M., Mitochondrion. 64 - 70. 69. 2023. http://www.scopus.com/inward/record.url?eid=2-s2.0-85147667721&partnerID=MN8TOARS . 10.1016/j.mito.2023.01.006 . Mitochondrion
MPV17 Mutations Are Associated With a Quiescent Energetic Metabolic Profile
Jacinto, Sandra; Guerreiro, Patrícia; de Oliveira, Rita Machado; Cunha-Oliveira, Teresa; Santos, Maria João; Grazina, Manuela; Rego, Ana Cristina; Outeiro, Tiago F., Frontiers in Cellular Neuroscience. 641264. 15. 2021. http://dx.doi.org/10.3389/fncel.2021.641264 . 10.3389/fncel.2021.641264 . published Frontiers in Cellular Neuroscience
MtDNA copy number associated with age of onset in familial amyloid polyneuropathy
Santos, D.; Santos, M.J.; Alves-Ferreira, M.; Coelho, T.; Sequeiros, J.; Alonso, I.; Oliveira, P.; et al, Journal of Neurology, Neurosurgery and Psychiatry. 300 - 304. 3. 89. 2018. http://www.scopus.com/inward/record.url?eid=2-s2.0-85042883375&partnerID=MN8TOARS . 10.1136/jnnp-2017-316657 . published Journal of Neurology, Neurosurgery and Psychiatry
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, M.C.; Hardy, S.A.; Vincent, A.E.; Durães, J.; Macário, M.C.; et al, Neuromuscular Disorders. 350 - 360. 4. 28. 2018. http://www.scopus.com/inward/record.url?eid=2-s2.0-85041560601&partnerID=MN8TOARS . 10.1016/j.nmd.2017.11.006 . published Neuromuscular Disorders
In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes
Bacalhau, M.; Pratas, J.; Simões, M.; Mendes, C.; Ribeiro, C.; Santos, M.J.; Diogo, L.; Macário, M.C.; Grazina, M., European Journal of Medical Genetics. 172 - 177. 3. 60. 2017. http://www.scopus.com/inward/record.url?eid=2-s2.0-85008450521&partnerID=MN8TOARS . 10.1016/j.ejmg.2016.12.009 . published European Journal of Medical Genetics
Response to "In silico prediction is insufficient to assess pathogenicity of mtDNA variants"
Bacalhau, M.; Pratas, J.; Simões, M.; Mendes, C.; Ribeiro, C.; Santos, M.J.; Diogo, L.; Macário, M.C.; Grazina, M., European Journal of Medical Genetics. 2017. http://www.scopus.com/inward/record.url?eid=2-s2.0-85027531111&partnerID=MN8TOARS . 10.1016/j.ejmg.2017.08.008 . published European Journal of Medical Genetics
Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency
Ribeiro, C.; do Carmo Macário, M.; Viegas, A.T.; Pratas, J.; Santos, M.J.; Simões, M.; Mendes, C.; et al, Mitochondrion. 84 - 88. 31. 2016. http://www.scopus.com/inward/record.url?eid=2-s2.0-84994711178&partnerID=MN8TOARS . 10.1016/j.mito.2016.10.004 . published Mitochondrion
Genetic variation of MT-ND genes in frontotemporal lobar degeneration: Biochemical phenotype-genotype correlation
Gaspar, R.; Santana, I.; Mendes, C.; Fernandes, A.S.; Duro, D.; Simões, M.; Luís, D.; Santos, M.J.; Grazina, M., Neurodegenerative Diseases. 70 - 80. 2. 15. 2015. http://www.scopus.com/inward/record.url?eid=2-s2.0-84928938610&partnerID=MN8TOARS . 10.1159/000380766 . published Neurodegenerative Diseases
Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes
Montero, Raquel; Grazina, Manuela; López-Gallardo, Ester; Montoya, Julio; Briones, Paz; Navarro-Sastre, Aleix; Land, John M.; et al, Mitochondrion. 337 - 341. 4. 13. 2013. http://dx.doi.org/10.1016/j.mito.2013.04.001 . 10.1016/j.mito.2013.04.001 . published Mitochondrion
Antenatal manifestations of mitochondrial disorders
Tavares, M.V.; Santos, M.J.; Domingues, A.P.; Pratas, J.; Mendes, C.; Simões, M.; Moura, P.; Diogo, L.; Grazina, M., Journal of Inherited Metabolic Disease. 805 - 811. 5. 36. 2013. http://www.scopus.com/inward/record.url?eid=2-s2.0-84884350140&partnerID=MN8TOARS . 10.1007/s10545-012-9567-x . published Journal of Inherited Metabolic Disease
Mitochondrial-dependent apoptosis in Huntington's disease human cybrids
Ferreira, I.L.; Nascimento, M.V.; Ribeiro, M.; Almeida, S.; Cardoso, S.M.; Grazina, M.; Pratas, J.; et al, Experimental Neurology. 243 - 255. 2. 222. 2010. http://www.scopus.com/inward/record.url?eid=2-s2.0-77549084450&partnerID=MN8TOARS . 10.1016/j.expneurol.2010.01.002 . published Experimental Neurology
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