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

NeuroImage (Orlando, Fla.), 2013-11, Vol.81, p.222-230

2013

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Identification of a novel mutation in MEF2C gene in an atypical patient with frontotemporal lobar degeneration

Neurological sciences, 2022, Vol.43 (1), p.319-326

2022

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

Human molecular genetics, 2012-11, Vol.21 (21), p.4680-4702

2012

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MPV17 Mutations Are Associated With a Quiescent Energetic Metabolic Profile

Frontiers in cellular neuroscience, 2021-03, Vol.15, p.641264-641264

2021

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MYOC Gene Sequencing Analysis in Primary Open-Angle Glaucoma Patients from the Centre Region of Portugal

Acta medica portuguesa, 2021-08, Vol.34 (9), p.586-591

2021

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Antenatal manifestations of mitochondrial disorders

Journal of inherited metabolic disease, 2013-09, Vol.36 (5), p.805-811

2013

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Metabolic Effects of Hypoxia in Colorectal Cancer by 13C NMR Isotopomer Analysis

BioMed research international, 2014-01, Vol.2014, p.759791-759791

2014

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Metabolic Effects of Hypoxia in Colorectal Cancer by 13 C NMR Isotopomer Analysis

BioMed research international, 2014-01, Vol.2014, p.1-10

2014

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Pediatric Mitochondrial Respiratory Chain Disorders in the Centro Region of Portugal

Pediatric neurology, 2009-05, Vol.40 (5), p.351-356

2009

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

Methods in molecular biology (Clifton, N.J.), 2012, Vol.837, p.73

Grazina, Manuela M

2012

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Citrullinemia stimulation test in the evaluation of the intestinal function

Nutrición hospitalaria : organo oficial de la Sociedad Española de Nutrición Parenteral y Enteral, 2013-01, Vol.28 (1), p.202-210

2013

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Value of Brain Magnetic Resonance Imaging in Mitochondrial Respiratory Chain Disorders

Pediatric neurology, 2010-03, Vol.42 (3), p.196-200

2010

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GenEye24: Novel rapid screening test for the top-3 Leber’s Hereditary Optic Neuropathy pathogenic sequence variants

Mitochondrion, 2023-03, Vol.69, p.64-70

2023

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

European journal of paediatric neurology, 2007-03, Vol.11 (2), p.115-118

2007

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

Pain medicine (Malden, Mass.), 2019-02, Vol.20 (2), p.359-368

2019

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Genomic Ancestry, CYP 2D6 , CYP 2C9 , and CYP 2C19 Among Latin Americans

Clinical pharmacology and therapeutics, 2020-01, Vol.107 (1), p.257-268

2020

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Frontotemporal dementia and mitochondrial DNA transitions

Neurobiology of disease, 2004-03, Vol.15 (2), p.306-311

2004

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High prevalence of CYP2D6 ultrarapid metabolizers in a mestizo Colombian population in relation to Hispanic mestizo populations

Pharmacogenomics, 2020-11, Vol.21 (17), p.1227-1236

2020

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

Orphanet journal of rare diseases, 2015-11, Vol.10 (73), p.O4-O4

2015

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The hidden story behind gender differences in familial amyloid polyneuropathy

Orphanet journal of rare diseases, 2015-11, Vol.10 (73)

2015

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Glutaminemia prognostic significance in critical surgical patients – An analysis of plasma aminogram profile; Significado pronóstico de la glutaminemia en pacientes quirúrgicos críticos - Análisis del perfil del aminograma plasmático

Nutrición hospitalaria : organo oficial de la Sociedad Española de Nutrición Parenteral y Enteral, 2017-07, Vol.34 (4)

2017

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

Mitochondrion, 2016-11, Vol.31, p.84-88

2016

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Mitochondrial-dependent apoptosis in Huntington's disease human cybrids

Experimental neurology, 2010-04, Vol.222 (2), p.243-255

2010

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

European journal of medical genetics, 2017-03, Vol.60 (3), p.172-177

2017

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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

Neuromuscular disorders : NMD, 2018-04, Vol.28 (4), p.350-360

2018

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

Identification of a novel mutation in MEF2C gene in an atypical patient with frontotemporal lobar degeneration

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

MPV17 Mutations Are Associated With a Quiescent Energetic Metabolic Profile

MYOC Gene Sequencing Analysis in Primary Open-Angle Glaucoma Patients from the Centre Region of Portugal

Antenatal manifestations of mitochondrial disorders

Metabolic Effects of Hypoxia in Colorectal Cancer by 13C NMR Isotopomer Analysis

Metabolic Effects of Hypoxia in Colorectal Cancer by 13 C NMR Isotopomer Analysis

Pediatric Mitochondrial Respiratory Chain Disorders in the Centro Region of Portugal

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

Citrullinemia stimulation test in the evaluation of the intestinal function

Value of Brain Magnetic Resonance Imaging in Mitochondrial Respiratory Chain Disorders

GenEye24: Novel rapid screening test for the top-3 Leber’s Hereditary Optic Neuropathy pathogenic sequence variants

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

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

Genomic Ancestry, CYP 2D6 , CYP 2C9 , and CYP 2C19 Among Latin Americans

Frontotemporal dementia and mitochondrial DNA transitions

High prevalence of CYP2D6 ultrarapid metabolizers in a mestizo Colombian population in relation to Hispanic mestizo populations

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

The hidden story behind gender differences in familial amyloid polyneuropathy

Glutaminemia prognostic significance in critical surgical patients – An analysis of plasma aminogram profile; Significado pronóstico de la glutaminemia en pacientes quirúrgicos críticos - Análisis del perfil del aminograma plasmático

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

Mitochondrial-dependent apoptosis in Huntington's disease human cybrids

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

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

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