Search Results - "GRAZINA, Manuela"

Long term cortical plasticity in visual retinotopic areas in humans with silent retinal ganglion cell loss by d'Almeida, Otília C., Mateus, Catarina, Reis, Aldina, Grazina, Manuela M., Castelo-Branco, Miguel

“…Visual cortical plasticity induced by overt retinal lesions (scotomas) has remained a controversial phenomenon. Here we studied cortical plasticity in a silent…”
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Identification of a novel mutation in MEF2C gene in an atypical patient with frontotemporal lobar degeneration by Adrião, Andreia, Santana, Isabel, Ribeiro, Carolina, Cancela, M. Leonor, Conceição, Natércia, Grazina, Manuela

“…The MEF2C gene encodes a transcription factor known to play a crucial role in molecular pathways affecting neuronal development. MEF2C mutations were described…”
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Mitochondrial metabolism in Parkinson's disease impairs quality control autophagy by hampering microtubule-dependent traffic by ARDUINO, Daniela M, RAQUEL ESTEVES, A, CORTES, Luisa, SILVA, Diana F, PATEL, Bindi, GRAZINA, Manuela, SWERDLOW, Russell H, OLIVEIRA, Catarina R, CARDOSO, Sandra M

“…Abnormal presence of autophagic vacuoles is evident in brains of patients with Parkinson's disease (PD), in contrast to the rare detection of autophagosomes in…”
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MPV17 mutations are associated with a quiescent energetic metabolic profile by Jacinto, Sandra, Guerreiro, Patrícia, de Oliveira, Rita Machado, Cunha-Oliveira, Teresa, Santos, Maria João, Grazina, Manuela, Rego, Ana Cristina, Outeiro, Tiago

“…© 2021 Jacinto, Guerreiro, de Oliveira, Cunha-Oliveira, Santos, Grazina, Rego and Outeiro. This is an open-access article distributed under the terms of the…”
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MYOC Gene Sequencing Analysis in Primary Open-Angle Glaucoma Patients from the Centre Region of Portugal by Silva, Filipe, Ferreira, Filipa, Faria, Pedro, Sobral, Isa, Rodrigues, Mariana, Pratas, João, Silva, João Filipe, Grazina, Manuela, Moura Pereira, José, Girão, Henrique, Pereira, Paulo

“…Primary open-angle glaucoma is the most frequent subtype of glaucoma. Relatives of primary open-angle glaucoma patients have an increased risk of developing…”
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Antenatal manifestations of mitochondrial disorders by Tavares, Mariana Vide, Santos, Maria João, Domingues, Ana Patrícia, Pratas, João, Mendes, Cândida, Simões, Marta, Moura, Paulo, Diogo, Luísa, Grazina, Manuela

“…Mitochondrial respiratory chain diseases are a heterogeneous group of pathologies caused by genetic alterations affecting mitochondrial energy production…”
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Metabolic effects of hypoxia in colorectal cancer by [sup.13]C NMR isotopomer analysis by Abrantes, Ana M, Tavares, Ludgero C, Pires, Salome, Casalta-Lopes, Joao, Mendes, Candida, Simoes, Marta, Grazina, Manuela M, Carvalho, Rui A, Botelho, Maria Filomena

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Metabolic Effects of Hypoxia in Colorectal Cancer by 13C NMR Isotopomer Analysis by Abrantes, Ana M., Tavares, Ludgero C., Pires, Salomé, Casalta-Lopes, João, Mendes, Cândida, Simões, Marta, Grazina, Manuela M., Carvalho, Rui A., Botelho, Maria Filomena

“…13C NMR isotopomer analysis was used to characterize intermediary metabolism in three colorectal cancer cell lines (WiDr, LS1034, and C2BBe1) and determine the…”
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Metabolic Effects of Hypoxia in Colorectal Cancer by 13 C NMR Isotopomer Analysis by Abrantes, Ana M., Tavares, Ludgero C., Pires, Salomé, Casalta-Lopes, João, Mendes, Cândida, Simões, Marta, Grazina, Manuela M., Carvalho, Rui A., Botelho, Maria Filomena

“…13 C NMR isotopomer analysis was used to characterize intermediary metabolism in three colorectal cancer cell lines (WiDr, LS1034, and C2BBe1) and determine…”
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Pediatric Mitochondrial Respiratory Chain Disorders in the Centro Region of Portugal by Diogo, Luísa, MD, Grazina, Manuela, PhD, Garcia, Paula, MD, Rebelo, Olinda, MD, Veiga, Margarida Alte, BSc, Cuevas, Juan, MD, PhD, Vilarinho, Laura, PhD, de Almeida, Isabel Tavares, PhD, Oliveira, Catarina Resende, MD, PhD

“…The present study reviewed mitochondrial respiratory chain disorders diagnosed at the sole tertiary pediatric hospital in the Centro region of Portugal and…”
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Mitochondrial respiratory chain: biochemical analysis and criterion for deficiency in diagnosis by Grazina, Manuela M

“…Spectrophotometric evaluation of mitochondrial respiratory chain (MRC) enzymatic complexes is the main approach to the biochemical investigation and diagnosis…”
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Citrullinemia stimulation test in the evaluation of the intestinal function by Pinto Costa, Beatriz, Serôdio, Marco, Simões, Marta, Veríssimo, Carla, Castro Sousa, F, Grazina, Manuela

“…Citrullinemia is been reported as a quantitative parameter of the enterocyte mass and function. The objective of this research is to analyse the value of…”
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Value of Brain Magnetic Resonance Imaging in Mitochondrial Respiratory Chain Disorders by Diogo, Luísa, MD, Cordeiro, Miguel, MD, Garcia, Paula, MD, Fineza, Isabel, MD, Moura, Cristina, MD, Oliveira, Catarina Resende, MD, PhD, Veiga, Margarida, BSc, Garcia, Teresa, MD, Grazina, Manuela, PhD

“…Mitochondrial respiratory chain (MRC) disorders have variable clinical manifestations which are mainly neurologic. Diagnosis in children is more complex than…”
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Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation—A case report by Grazina, Manuela M, Diogo, Luísa M, Garcia, Paula C, Silva, Eduardo D, Garcia, Teresa D, Robalo, Conceição B, Oliveira, Catarina R

“…Abstract Leber's hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder characterized by bilateral loss of central vision, most…”
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Frontotemporal dementia and mitochondrial DNA transitions by Grazina, Manuela, Silva, Filipe, Santana, Isabel, Santiago, Beatriz, Mendes, Cândida, Simões, Marta, Oliveira, Miguel, Cunha, Luı́s, Oliveira, Catarina

“…Frontotemporal dementia (FTD) is the second most common type of primary degenerative dementia. Some patients present an overlap between Alzheimer's disease…”
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Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes by Montero, Raquel, Grazina, Manuela, López-Gallardo, Ester, Montoya, Julio, Briones, Paz, Navarro-Sastre, Aleix, Land, John M., Hargreaves, Iain P., Artuch, Rafael, del Mar O'Callaghan, Maria, Jou, Cristina, Jimenez, Cecilia, Buján, Nuria, Pineda, Mercè, García-Cazorla, Angels, Nascimento, Andrés, Perez-Dueñas, Belen, Ruiz-Pesini, Eduardo, Fratter, Carl, Salviati, Leonardo, Simões, Marta, Mendes, Cândida, Santos, Maria João, Diogo, Luisa, Garcia, Paula, Navas, Plácido

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Homozygosity for a Rare FASTKD2 Variant Resulting in an Adult Onset Autosomal Recessive Mitochondrial Podocytopathy by Gonçalves, Francisco Pereira, Tavares, Isabel, Silva, Roberto, Nunes, Ana Teresa, Pereira, Luciano, Campos, Andreia, Pinto, Joel, Lopes, Ana, Simões, Marta, Grazina, Manuela, Fogo, Agnes B., Oliveira, João Paulo

“…Mitochondrial cytopathies can have kidney involvement in up to half of cases. Their diagnosis is challenging due to phenotypic variability, lack of noninvasive…”
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GenEye24: Novel rapid screening test for the top-3 Leber’s Hereditary Optic Neuropathy pathogenic sequence variants by Martins, Sara, Santos, Maria João, Teixeira, Márcia, Diogo, Luísa, do Carmo Macário, Maria, Marques, João Pedro, Fonseca, Pedro, Grazina, Manuela

“…•Real-time PCR and High-Resolution Melting allow screening of genetic variations fast and accurately.•Screening LHON’s top-3 quickly, may impact treatment…”
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mtDNA copy number associated with age of onset in familial amyloid polyneuropathy by Santos, Diana, Santos, Maria João, Alves-Ferreira, Miguel, Coelho, Teresa, Sequeiros, Jorge, Alonso, Isabel, Oliveira, Pedro, Sousa, Alda, Lemos, Carolina, Grazina, Manuela

“…BackgroundTransthyretin-related familial amyloid polyneuropathy (TTR-FAP Val30Met) shows a wide variation in age-at-onset (AO) between generations and genders,…”
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CYP2D6 Pharmacogenetics Testing and Post–Cesarean Section Pain Scores—a Preliminary Study by Ribeiro, Carolina, Quinta, Rosa, Raposo, Ana, Valentim, Ana, Albuquerque, José, Grazina, Manuela

“…Abstract Objective Prospective observational study to analyze CYP2D6 pharmacogenetics in 55 Portuguese adult parturients undergoing elective cesarean section…”
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