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The genetics and pathology of mitochondrial disease

The Journal of pathology, 2017-01, Vol.241 (2), p.236-250

2017

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Early changes of neuromuscular transmission in the SOD1(G93A) mice model of ALS start long before motor symptoms onset

PloS one, 2013-09, Vol.8 (9), p.e73846-e73846

2013

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A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis

Scientific reports, 2015-10, Vol.5 (1), p.15037-15037, Article 15037

2015

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Spectral components of detergent-solubilized bovine cytochrome oxidase

Biochimica et biophysica acta. Bioenergetics, 2018-08, Vol.1859 (8), p.555-566

2018

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Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study

Pulmonary circulation, 2018-04, Vol.8 (2), p.1-5

2018

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Subcellular origin of mitochondrial DNA deletions in human skeletal muscle

Annals of neurology, 2018-08, Vol.84 (2), p.289-301

2018

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Mitochondrial and inflammatory changes in sporadic inclusion body myositis

Neuropathology and applied neurobiology, 2015-04, Vol.41 (3), p.288-303

2015

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Pathological mechanisms underlying single large‐scale mitochondrial DNA deletions

Annals of neurology, 2018-01, Vol.83 (1), p.115-130

2018

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Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level

Nucleic acids research, 2019-08, Vol.47 (14), p.7430-7443

2019

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Mitochondrial dysfunction in myofibrillar myopathy

Neuromuscular disorders : NMD, 2016-10, Vol.26 (10), p.691-701

2016

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Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency

Scientific reports, 2017-11, Vol.7 (1), p.15676-13, Article 15676

2017

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Dysferlin mutations and mitochondrial dysfunction

Neuromuscular disorders : NMD, 2016-11, Vol.26 (11), p.782-788

2016

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Unique quadruple immunofluorescence assay demonstrates mitochondrial respiratory chain dysfunction in osteoblasts of aged and PolgA−/− mice

Scientific reports, 2016-08, Vol.6 (1), p.31907-31907, Article 31907

2016

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Quantitative quadruple-label immunofluorescence of mitochondrial and cytoplasmic proteins in single neurons from human midbrain tissue

Journal of neuroscience methods, 2014-07, Vol.232 (100), p.143-149

2014

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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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Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy

Neurology. Genetics, 2016-08, Vol.2 (4), p.e82-e82

2016

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Understanding Mitochondrial DNA Maintenance Disorders at the Single Muscle Fibre Level (427)

Neurology, 2020-04, Vol.94 (15_supplement)

2020

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Mitochondrial respiratory chain deficiency in older men and its relationship with muscle mass and performance

JCSM clinical reports, 2017-07, Vol.2 (2), p.1-10

2017

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Produção de multimídia e acessibilidade em cursos de aprendizagem a distância

Educação temática digital, 2009-10, Vol.10 (2), p.355

2009

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Produção de multimídia e acessibilidade em cursos de aprendizagem a distância/Multimedia production and accessibility on distance learning courses

Educação temática digital, 2009-06, Vol.10 (2), p.355-372

2009

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Formação continuada de professores de Matemática: o desenvolvimento de comunidades de prática baseadas na tecnologia

Revista iberoamericana de tecnologia en educación y educación en tecnología, 2009-01 (3)

2009

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Formação continuada de professores de Matemática: o desenvolvimento de comunidades de prática baseadas na tecnologia

Revista iberoamericana de tecnologia en educación y educación en tecnología, 2009-01, Vol.no. 3

2009

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Validation of the rabbit pain behaviour scale (RPBS) to assess acute postoperative pain in rabbits (Oryctolagus cuniculus)

PloS one, 2022-01, Vol.17 (5), p.e0268973

2022

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Propedia: a database for protein-peptide identification based on a hybrid clustering algorithm

BMC bioinformatics, 2021-01, Vol.22 (1), p.1-20, Article 1

2021

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The pre-hatching bovine embryo transforms the uterine luminal metabolite composition in vivo

Scientific reports, 2019-06, Vol.9 (1), p.8354-8354, Article 8354

2019

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The genetics and pathology of mitochondrial disease

Early changes of neuromuscular transmission in the SOD1(G93A) mice model of ALS start long before motor symptoms onset

A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis

Spectral components of detergent-solubilized bovine cytochrome oxidase

Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study

Subcellular origin of mitochondrial DNA deletions in human skeletal muscle

Mitochondrial and inflammatory changes in sporadic inclusion body myositis

Pathological mechanisms underlying single large‐scale mitochondrial DNA deletions

Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level

Mitochondrial dysfunction in myofibrillar myopathy

Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency

Dysferlin mutations and mitochondrial dysfunction

Unique quadruple immunofluorescence assay demonstrates mitochondrial respiratory chain dysfunction in osteoblasts of aged and PolgA−/− mice

Quantitative quadruple-label immunofluorescence of mitochondrial and cytoplasmic proteins in single neurons from human midbrain tissue

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

Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy

Understanding Mitochondrial DNA Maintenance Disorders at the Single Muscle Fibre Level (427)

Mitochondrial respiratory chain deficiency in older men and its relationship with muscle mass and performance

Produção de multimídia e acessibilidade em cursos de aprendizagem a distância

Produção de multimídia e acessibilidade em cursos de aprendizagem a distância/Multimedia production and accessibility on distance learning courses

Formação continuada de professores de Matemática: o desenvolvimento de comunidades de prática baseadas na tecnologia

Formação continuada de professores de Matemática: o desenvolvimento de comunidades de prática baseadas na tecnologia

Validation of the rabbit pain behaviour scale (RPBS) to assess acute postoperative pain in rabbits (Oryctolagus cuniculus)

Propedia: a database for protein-peptide identification based on a hybrid clustering algorithm

The pre-hatching bovine embryo transforms the uterine luminal metabolite composition in vivo

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