Manuela Grazina

Manuela Grazina

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Manuela Grazina

Manuela Grazina

Publications by authors named "Manuela Grazina"

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CYP2D6 Pharmacogenetics Testing and Post-Cesarean Section Pain Scores-a Preliminary Study.

Pain Med 2019 02;20(2):359-368

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

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http://dx.doi.org/10.1093/pm/pny033DOI Listing
February 2019

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

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

J Neurol Neurosurg Psychiatry 2018 03 10;89(3):300-304. Epub 2017 Oct 10.

Centre for Neuroscience and Cell Biology, Laboratory of Biochemical Genetics (LGB), Universidade de Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1136/jnnp-2017-316657DOI Listing
March 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

Glutaminemia prognostic significance in critical surgical patients - An analysis of plasma aminogram profile.

Nutr Hosp 2017 Jul 28;34(4):799-807. Epub 2017 Jul 28.

"A" Surgical Department, Hospitais da Universidade de Coimbra, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal; Faculty of Medicine, University of Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.20960/nh.817DOI Listing
July 2017

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

Intestinal dysfunction in the critical trauma patients - An early and frequent event.

Nutr Hosp 2017 Mar 30;34(2):284-289. Epub 2017 Mar 30.

"A" Surgical Department, Hospitais da Universidade de Coimbra, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal; Faculty of Medicine, University of Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.20960/nh.788DOI 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

Argininemia and plasma arginine bioavailability - predictive factors of mortality in the severe trauma patients?

Nutr Metab (Lond) 2016 31;13(1):60. Epub 2016 Aug 31.

"A" Surgical Department, Hospitais da Universidade de Coimbra, Centro Hospitalar e Universitário de Coimbra, Praceta Prof. Mota Pinto, 3000-075 Coimbra, Portugal ; Faculty of Medicine, University of Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1186/s12986-016-0118-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006376PMC
September 2016

Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features.

JIMD Rep 2017 30;33:61-68. Epub 2016 Aug 30.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

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http://dx.doi.org/10.1007/8904_2016_581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413444PMC
August 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://www.hindawi.com/journals/bmri/2014/759791/
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http://dx.doi.org/10.1155/2014/759791DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4100400PMC
March 2015

Citrullinemia stimulation test in the evaluation of the intestinal function.

Nutr Hosp 2013 Jan-Feb;28(1):202-10

Coimbra University Medical School and IIIrd Surgical, Department of Coimbra University Hospitals, Coimbra, Portugal.

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http://dx.doi.org/10.3305/nh.2013.28.1.6243DOI Listing
March 2014

Long term cortical plasticity in visual retinotopic areas in humans with silent retinal ganglion cell loss.

Neuroimage 2013 Nov 16;81:222-230. Epub 2013 May 16.

Visual Neuroscience Laboratory, IBILI, Faculty of Medicine, University of Coimbra, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.neuroimage.2013.05.032DOI Listing
November 2013

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

Characterization of CYP2D6 genotypes and metabolic profiles in the Portuguese population: pharmacogenetic implications.

Per Med 2013 Sep;10(7):709-718

CNC - Center for Neuroscience & Cell Biology, University of Coimbra, Portugal.

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http://dx.doi.org/10.2217/pme.13.56DOI Listing
September 2013

Coenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromes.

Mitochondrion 2013 Jul 11;13(4):337-41. Epub 2013 Apr 11.

Clinical Chemistry, Pathology and Neurology Departments, Hospital Sant Joan de Déu, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.mito.2013.04.001DOI Listing
July 2013

Nonketotic hyperglycinemia: a cause of encephalopathy in children.

J Child Neurol 2013 Feb 24;28(2):251-4. Epub 2012 Apr 24.

Centro de Neurociências e Biologia Celular, Universidade de Coimbra, Laboratório de Bioquímica Genética, Coimbra, Portugal.

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http://dx.doi.org/10.1177/0883073812441063DOI Listing
February 2013

Mitochondrial metabolism in Parkinson's disease impairs quality control autophagy by hampering microtubule-dependent traffic.

Hum Mol Genet 2012 Nov 27;21(21):4680-702. Epub 2012 Jul 27.

CNC – Center for Neuroscience and Cell Biology, Institute of Biology, University of Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1093/hmg/dds309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3471400PMC
November 2012

Mitochondrial DNA 8993T>G mutation in a child with ornithine transcarbamylase deficiency and leigh syndrome: an unexpected association.

J Child Neurol 2012 Aug 12;27(8):1059-61. Epub 2012 Jan 12.

Centro de Desenvolvimento Dr Luís Borges, Hospital Pediátrico de Coimbra, CHC, Coimbra, Portugal.

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http://dx.doi.org/10.1177/0883073811431015DOI Listing
August 2012

Mitochondrial respiratory chain: biochemical analysis and criterion for deficiency in diagnosis.

Methods Mol Biol 2012 ;837:73-91

Laboratory of Biochemical Genetics (CNC/UC), Faculty of Medicine, University of Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1007/978-1-61779-504-6_6DOI Listing
April 2012

Neonatal liver failure due to deoxyguanosine kinase deficiency.

BMJ Case Rep 2012 Apr 2;2012. Epub 2012 Apr 2.

Serviço de Medicina, Unidade de Gastrenterologia eHepatologia, Hospital Pediátrico de Coimbra, Coimbra, Portugal.

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http://casereports.bmj.com/cgi/doi/10.1136/bcr.12.2011.5317
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http://dx.doi.org/10.1136/bcr.12.2011.5317DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3339167PMC
April 2012

Mitochondrial-dependent apoptosis in Huntington's disease human cybrids.

Exp Neurol 2010 Apr 14;222(2):243-55. Epub 2010 Jan 14.

Center for Neuroscience and Cell Biology, Faculty of Medicine, University of Coimbra, 3004-504 Coimbra, Portugal.

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http://dx.doi.org/10.1016/j.expneurol.2010.01.002DOI Listing
April 2010

Value of brain magnetic resonance imaging in mitochondrial respiratory chain disorders.

Pediatr Neurol 2010 Mar;42(3):196-200

Metabolic Diseases Unit, Luís Borges Center for Child Development, Pediatric Hospital of Coimbra-CHC EPE, Coimbra, Portugal.

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http://dx.doi.org/10.1016/j.pediatrneurol.2009.09.010DOI Listing
March 2010

Pediatric mitochondrial respiratory chain disorders in the Centro region of Portugal.

Pediatr Neurol 2009 May;40(5):351-6

Center for Child Development Luís Borges, Pediatric Hospital of Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1016/j.pediatrneurol.2008.11.012DOI Listing
May 2009

Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation--A case report.

Eur J Paediatr Neurol 2007 Mar 24;11(2):115-8. Epub 2007 Jan 24.

Biochemistry Institute, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1016/j.ejpn.2006.11.015DOI Listing
March 2007

Mitochondrial DNA variants in a portuguese population of patients with Alzheimer's disease.

Eur Neurol 2005 28;53(3):121-4. Epub 2005 Apr 28.

Faculty of Medicine, University of Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1159/000085555DOI Listing
August 2005

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