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Mariana Ferreira

Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1
2011 · Mariana Ferreira, Alessandra Torraco, et al. · Neurogenetics · 49
SANDO: Two novel mutations in POLG1 gene
2006 · Miguel Fernandes Gago, M.J. Rosas, et al. · Neuromuscular Disorders · 44
Relative frequency of known causes of multiple mtDNA deletions: Two novel POLG mutations
2011 · Mariana Ferreira, Teresinha Evangelista, et al. · Neuromuscular Disorders · 18
Cardiomyopathy and Kidney Disease in a Patient with Maternally Inherited Diabetes and Deafness Caused by the 3243A>G Mutation of Mitochondrial DNA
2009 · Olga Azevedo, Laura Vilarinho, et al. · Cardiology · 12
Atypical Presentation of a Medullary Thyroid Carcinoma Producing Acth and Serotonin
2019 · Mariana Ferreira, Christianne Toledo de Souza Leal, et al. · Case Reports in Oncology · 10
A case of behavioral changes in a castrated male cat due to a functional adrenocortical adenoma producing testosterone and androstenedione
2021 · Archivaldo Reche Junior, Daniela Ramos, et al. · Journal of Feline Medicine and Surgery Open Reports · 8
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Identification of novel L2HGDH gene mutations and update of the pathological spectrum
2009 · Laura Vilarinho, Sandra Tafulo, et al. · Journal of Human Genetics · 8
RNU4-2 monoallelic variants as a leading cause of syndromic neurodevelopmental disorder, including in patients with parental consanguinity
2025 · Aida M Bertoli-Avella, Christian A Ganoza, et al. · Journal of Medical Genetics · 6
Expanding the Genetic and Phenotypic Spectrum of DYT ‐ VPS16 : The Importance of Splice‐Site Variants
2025 · Ana Westenberger, Edgard Verdura, et al. · Movement Disorders · 5
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Severe osteoporosis in a young man with bilateral Cushing’s syndrome: a case report
2023 · Bárbara Oliveira Reis, Christianne Toledo Sousa Leal, et al. · Journal of Medical Case Reports · 4
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Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing
2023 · Emir Zonic, Mariana Ferreira, et al. · Genetics in Medicine Open · 4
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Cadeia Respiratória Mitocondrial Aspectos Clínicos, Bioquímicos, Enzimáticos e Moleculares Associados ao Défice do Complexo I
2008 · Mariana Ferreira, Tatiana Quinta Aguiar, et al. · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) · 4
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Serological evidence of antibodies to Flaviviridae in wild birds in Portugal
2024 · Filipa Loureiro, Luís Cardoso, et al. · Animal Diseases · 2
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Impact of interaction between chronic variable stress and moderate intensity physical exercise on antibody production in Wistar rats
2021 · Eduardo Vignoto Fernandes, Lucas Franco Carmona, et al. · Indian Journal of Experimental Biology · 2
Assessment of the quality of life of patients with type 2 diabetes mellitus and associated variables
2025 · Mariana Caroliny Ferreira, André Oliveira Baldoni, et al. · Brazilian Journal of Health and Pharmacy
P740: Impact of gene-disease relationship curation on patient diagnostics and panel design
2025 · Eleni Perraki, Mariana Ferreira, et al. · Genetics in Medicine Open
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An integrative review of analytical techniques used in food authentication: a detailed description for milk and dairy products
2024 · Mariana Ferreira
“Double-trouble” or digenic disorder in complex I deficiency
2012 · Lígia S. Almeida, Mariana Ferreira, et al. · Mitochondrion
Works count: 18
Citation count: 176
H-index: 7
I10-index: 5
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