Mariana C Rocha

Mariana C Rocha

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Mariana C Rocha

Mariana C Rocha

Publications by authors named "Mariana C Rocha"

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16Publications

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Spectral components of detergent-solubilized bovine cytochrome oxidase.

Biochim Biophys Acta Bioenerg 2018 08 25;1859(8):555-566. Epub 2018 Apr 25.

Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus, Wellcome Trust/MRC Building, Hills Road, Cambridge CB2 0XY, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.bbabio.2018.04.009DOI Listing
August 2018

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

The genetics and pathology of mitochondrial disease.

J Pathol 2017 Jan 2;241(2):236-250. Epub 2016 Nov 2.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1002/path.4809DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5215404PMC
January 2017

Dysferlin mutations and mitochondrial dysfunction.

Neuromuscul Disord 2016 11 29;26(11):782-788. Epub 2016 Aug 29.

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

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http://dx.doi.org/10.1016/j.nmd.2016.08.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5091283PMC
November 2016

Mitochondrial dysfunction in myofibrillar myopathy.

Neuromuscul Disord 2016 10 10;26(10):691-701. Epub 2016 Aug 10.

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

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http://dx.doi.org/10.1016/j.nmd.2016.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5066370PMC
October 2016

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

Neurol Genet 2016 Aug 23;2(4):e82. Epub 2016 Jun 23.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience (S.A.H., E.L.B., A.I.P., M.C.R., S.A., G.F., Y.S.N., D.M.T., G.S.G., R.W.T.), The Medical School, Institute of Genetic Medicine (R.H.), Newcastle University; Nuffield Department of Obstetrics and Gynaecology (J.P.), University of Oxford; Department of Neurology (M.R.R.), King's College Hospital NHS Foundation Trust, London; Departments of Neurology and Neuropathology (O.O., N.B.), Cork University Hospital, Ireland; and The Walton Centre for Neurology and Neurosurgery (C.F.D.), Liverpool, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4972142PMC
August 2016

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

Sci Rep 2015 Oct 15;5:15037. Epub 2015 Oct 15.

Newcastle University Centre for Ageing and Vitality, Institute for Neuroscience, Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1038/srep15037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4606788PMC
October 2015

Mitochondrial and inflammatory changes in sporadic inclusion body myositis.

Neuropathol Appl Neurobiol 2015 Apr;41(3):288-303

Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, UK; Newcastle University Centre for Brain Ageing and Vitality, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1111/nan.12149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833191PMC
April 2015

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

PLoS One 2013 5;8(9):e73846. Epub 2013 Sep 5.

Institute of Pharmacology and Neurosciences, Faculty of Medicine, University of Lisbon, Lisbon, Portugal ; Unit of Neurosciences, Institute of Molecular Medicine, University of Lisbon, Lisbon, Portugal.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0073846PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3764017PMC
July 2014

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

J Neurosci Methods 2014 Jul 29;232:143-9. Epub 2014 May 29.

Wellcome Trust Centre for Mitochondrial Research, Institute of Ageing and Health, Newcastle University, Newcastle upon Tyne, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jneumeth.2014.05.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4076514PMC
July 2014