Publications by authors named "Marcia E Oliveira"

14Publications

Short-term complications after renal transplantation in AFibE526V (p.Glu545Val) amyloidosis.

Amyloid 2019;26(sup1):162-163

f Unit for Multidisciplinary Research in Biomedicine (UMIB), Instituto de Ciências Biomédicas Abel Salazar, University of Porto , Porto , Portugal.

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January 2020

Haplotype analysis of newly diagnosed Portuguese and Brazilian families with fibrinogen amyloidosis caused by the p.Glu545Val variant.

Amyloid 2019;26(sup1):144-145

d Unit for Multidisciplinary Research in Biomedicine (UMIB), Instituto de Ciências Biomédicas Abel Salazar, University of Porto , Porto , Portugal.

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January 2020

New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.

J Hum Genet 2016 Jun 4;61(6):497-505. Epub 2016 Feb 4.

Unidade Multidisciplinar de Investigação Biomédica (UMIB), Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Porto, Portugal.

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June 2016

Atypical phenotype in two patients with LAMA2 mutations.

Neuromuscul Disord 2014 May 25;24(5):419-24. Epub 2014 Jan 25.

Instituto de Medicina Molecular, Faculdade de Medicina da Universidade de Lisboa, Av. Professor Egas Moniz, 1649-028 Lisboa, Portugal; Laboratório de Neuropatologia, Serviço de Neurologia, Hospital de Santa Maria, CHLN, Av. Professor Egas Moniz, 1649-035 Lisboa, Portugal.

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May 2014

Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients.

J Neuromuscul Dis 2014;1(2):169-179

Departamento de Microscopia, Laboratório de Biologia Celular, Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Porto, Portugal.

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January 2014

Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.

Eur J Hum Genet 2013 May 12;21(5):540-9. Epub 2012 Sep 12.

Unidade de Investigação e Desenvolvimento, Departamento de Genética, Centro de Genética Médica Dr Jacinto Magalhães, Instituto Nacional de Saúde Dr Ricardo Jorge, IP, Porto, Portugal.

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May 2013

The import competence of a peroxisomal membrane protein is determined by Pex19p before the docking step.

J Biol Chem 2006 Nov 15;281(45):34492-502. Epub 2006 Sep 15.

Instituto de Biologia Molecular e Celular, Rua do Campo Alegre, 823, 4150-180 Porto, Portugal.

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November 2006

Protein translocation across the peroxisomal membrane.

Cell Biochem Biophys 2004 ;41(3):451-68

Instituto de Biologia Molecular e Celular, Rua do Campo Alegre 823, 4150-180 Porto, Portugal.

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January 2009

Characterization of the peroxisomal cycling receptor Pex5p import pathway.

Adv Exp Med Biol 2003 ;544:219-20

Instituto de Biologia Molecular e Celular, Rua do Campo Alegre, 823, 4150-180 Porto, Portugal.

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July 2004

The energetics of Pex5p-mediated peroxisomal protein import.

J Biol Chem 2003 Oct 28;278(41):39483-8. Epub 2003 Jul 28.

Instituto de Biologia Molecular e Celular, 4150-180 Porto, Portugal.

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October 2003

Insertion of Pex5p into the peroxisomal membrane is cargo protein-dependent.

J Biol Chem 2003 Feb 26;278(7):4389-92. Epub 2002 Dec 26.

Instituto de Biologia Molecular e Celular, Rua do Campo Alegre, 823, 4150-180 Porto, Portugal.

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February 2003

Characterization of the peroxisomal cycling receptor, Pex5p, using a cell-free in vitro import system.

J Biol Chem 2003 Jan 30;278(1):226-32. Epub 2002 Oct 30.

Instituto de Biologia Molecular e Celular, Rua do Campo Alegre, 823, 4150-180 Porto, Portugal.

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January 2003