Candida Mendes

Candida Mendes

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Candida Mendes

Candida Mendes

Publications by authors named "Candida Mendes"

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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.

Neuromuscul Disord 2018 04 23;28(4):350-360. Epub 2017 Nov 23.

FMUC - Faculty of Medicine, University of Coimbra, Coimbra, Portugal; CNC - Center for Neuroscience and Cell Biology, Laboratory of Biochemical Genetics, University of Coimbra, Coimbra, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.11.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5952895PMC
April 2018

Response to "In silico prediction is insufficient to assess pathogenicity of mtDNA variants".

Eur J Med Genet 2018 01 12;61(1):46-47. Epub 2017 Aug 12.

Faculty of Medicine, University of Coimbra, PA 3000-354, Portugal; Center for Neuroscience and Cell Biology, University of Coimbra - Laboratory of Biochemical Genetics, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.08.008DOI Listing
January 2018

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

Eur J Med Genet 2017 Mar 24;60(3):172-177. Epub 2016 Dec 24.

Faculty of Medicine, University of Coimbra, PA 3000-354, Portugal; Center for Neuroscience and Cell Biology, University of Coimbra - Laboratory of Biochemical Genetics, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.12.009DOI Listing
March 2017

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

Mitochondrion 2016 Nov 15;31:84-88. Epub 2016 Oct 15.

CNC - Center for Neuroscience and Cell Biology, Biochemical Genetics Laboratory, University of Coimbra, Portugal; Faculty of Medicine, University of Coimbra, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2016.10.004DOI Listing
November 2016

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

Neurodegener Dis 2015 3;15(2):70-80. Epub 2015 Apr 3.

CNC - Center for Neuroscience and Cell Biology, Laboratory of Biochemical Genetics, University of Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1159/000380766DOI Listing
January 2016

Metabolic effects of hypoxia in colorectal cancer by 13C NMR isotopomer analysis.

Biomed Res Int 2014 1;2014:759791. Epub 2014 Jul 1.

Biophysics Unit, IBILI, Faculty of Medicine, University of Coimbra, 3000-548 Coimbra, Portugal ; Centre of Investigation on Environment, Genetics and Oncobiology (CIMAGO), Faculty of Medicine, University of Coimbra, 3001-301 Coimbra, Portugal.

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http://downloads.hindawi.com/journals/bmri/2014/759791.pdf
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http://dx.doi.org/10.1155/2014/759791DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4100400PMC
March 2015

Antenatal manifestations of mitochondrial disorders.

J Inherit Metab Dis 2013 Sep 30;36(5):805-11. Epub 2013 Jan 30.

Obstetric Unit, University Hospital of Coimbra, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1007/s10545-012-9567-xDOI Listing
September 2013

Frontotemporal dementia and mitochondrial DNA transitions.

Neurobiol Dis 2004 Mar;15(2):306-11

Neurology Unit, University Hospital of Coimbra, 3000-075 Coimbra, Portugal.

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http://dx.doi.org/10.1016/j.nbd.2003.11.004DOI Listing
March 2004