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List of works by Manuela Grazina

A study of the electrochemical oxidation of Navelbine

scientific article published on 01 March 1993

Antenatal manifestations of mitochondrial disorders.

scientific article published on 30 January 2013

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

scientific article published on 31 August 2016

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

scientific article published on 24 January 2007

Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene

scientific article published in November 2006

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

scientific article published on 01 February 2019

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

article

Citrullinemia stimulation test in the evaluation of the intestinal function

scientific article published in January 2013

Coenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromes.

scientific article

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.

scientific article published on 23 November 2017

Frontotemporal dementia and mitochondrial DNA transitions

scientific article published in March 2004

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

scientific article published on 3 April 2015

Genetic basis of Alzheimer's dementia: role of mtDNA mutations.

scientific article

Genomic Ancestry, CYP2D6, CYP2C9, and CYP2C19 Among Latin Americans

scientific article published on 02 August 2019

Genotyping CYP2D6 by three different methods: advantages and disadvantages

scientific article published on 7 February 2017

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

scientific article published on 28 July 2017

High frequency and founder effect of the CYP3A4*20 loss-of-function allele in the Spanish population classifies CYP3A4 as a polymorphic enzyme

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

scientific article published on 15 October 2016

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

scientific article published on 24 December 2016

Influence of apolipoprotein E genotype on blood redox status of Alzheimer's disease patients

scientific article published in August 1999

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

article

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

scientific article

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

scientific article published on 16 May 2013

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

scientific article

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

scientific article published on 12 January 2012

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

scientific article

Mitochondrial Respiratory Chain: Biochemical Analysis and Criterion for Deficiency in Diagnosis

scientific article published on 01 January 2012

Mitochondrial dysfunction in autism spectrum disorders: a population-based study.

scientific article published in March 2005

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

scientific article

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

scientific article

Neonatal liver failure due to deoxyguanosine kinase deficiency

scientific article published on 2 April 2012

Nonketotic hyperglycinemia: a cause of encephalopathy in children

scientific article published on 24 April 2012

Parkinson's disease and mitochondrial DNA NADH dehydrogenase subunit 1 nucleotides 3337-3340: study in a population from the central region of Portugal (Coimbra).

scientific article published in January 2003

Pediatric mitochondrial respiratory chain disorders in the Centro region of Portugal

scientific article published in May 2009

Response to “In silico prediction is insufficient to assess pathogenicity of mtDNA variants”

scientific article published on 12 August 2017

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

scientific article published on 30 June 2016

The brain-heart connection in mitochondrial respiratory chain diseases

scientific article published on 14 December 2009

The hidden story behind gender differences in familial amyloid polyneuropathy (FAP) ATTRV30M.

scientific article published on 2 November 2015

Value of brain magnetic resonance imaging in mitochondrial respiratory chain disorders

scientific article

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

scientific article published on 10 October 2017

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