Charles Marques Lourenco

Charles Marques Lourenco

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Charles Marques Lourenco

Charles Marques Lourenco

Publications by authors named "Charles Marques Lourenco"

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SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 Jul 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS.

Parkinsonism Relat Disord 2019 May 23;62:148-155. Epub 2018 Dec 23.

Division of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, Sao Paulo, SP, Brazil.

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http://dx.doi.org/10.1016/j.parkreldis.2018.12.024DOI Listing
May 2019

Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.

Mol Cytogenet 2018 5;11:14. Epub 2018 Feb 5.

1Human Genome and Stem Cell Research Center (HUG-CELL), Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of Sao Paulo, Rua do Matao no 277, Cidade Universitaria-Butanta, Sao Paulo, SP 05508-090 Brazil.

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http://dx.doi.org/10.1186/s13039-018-0363-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5800070PMC
February 2018

Epilepsy in mucopolysaccharidosis disorders.

Mol Genet Metab 2017 12 16;122S:55-61. Epub 2017 Oct 16.

Department of Child Neurology, Hospital Universitario Austral, Buenos Aires, Argentina.

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http://dx.doi.org/10.1016/j.ymgme.2017.10.006DOI Listing
December 2017

GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.

Int J Biochem Cell Biol 2017 11 14;92:90-94. Epub 2017 Sep 14.

BRAIN Laboratory, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Post Graduate Program in Genetics and Molecular Biology of Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Medical Genetics Service of Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.biocel.2017.09.006DOI Listing
November 2017

Biomolecules damage and redox status abnormalities in Fabry patients before and during enzyme replacement therapy.

Clin Chim Acta 2016 Oct 22;461:41-6. Epub 2016 Jul 22.

Programa de Pós-Graduação em Ciências Biológicas:Bioquímica, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Ciências Farmacêuticas, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2016.07.016DOI Listing
October 2016

De novo DNM1 mutations in two cases of epileptic encephalopathy.

Epilepsia 2016 Jan 27;57(1):e18-23. Epub 2015 Nov 27.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1111/epi.13257DOI Listing
January 2016

Psychiatric disorders, spinocerebellar ataxia type 3 and CAG expansion.

J Neurol 2015 Jul 13;262(7):1777-9. Epub 2015 Jun 13.

Department of Neuroscience and Behavior, Ribeirão Preto Medical School, University of São Paulo, Avenida dos Bandeirantes 3900, Ribeirão Preto, São Paulo, CEP 14048-900, Brazil.

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http://dx.doi.org/10.1007/s00415-015-7807-3DOI Listing
July 2015

Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site.

Hum Mol Genet 2015 Jun 18;24(12):3497-505. Epub 2015 Mar 18.

Department of Biochemistry, Children's Hospital, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany,

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http://dx.doi.org/10.1093/hmg/ddv100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498157PMC
June 2015

Erratum to: Respiratory dysfunction in Charcot-Marie-Tooth disease type 1A.

J Neurol 2015 May;262(5):1172

Department of Neurosciences and Behaviour Sciences, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.

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http://dx.doi.org/10.1007/s00415-015-7733-4DOI Listing
May 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Mutational screening of 320 Brazilian patients with autosomal dominant spinocerebellar ataxia.

J Neurol Sci 2014 Dec 31;347(1-2):375-9. Epub 2014 Oct 31.

Ribeirão Preto School of Medicine, University of São Paulo, Department of Neurosciences and Behavior Sciences, Av. Bandeirantes 3900, Campus da USP - Monte Alegre, Ribeirão Preto, SP Zip Code 14049-900, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2014.10.036DOI Listing
December 2014

New insights in mucopolysaccharidosis type VI: neurological perspective.

Brain Dev 2014 Aug 21;36(7):585-92. Epub 2013 Aug 21.

Genetics Unit, Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo (USP), Brazil.

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http://dx.doi.org/10.1016/j.braindev.2013.07.016DOI Listing
August 2014

Mucopolysaccharidosis type IVA: evidence of primary and secondary central nervous system involvement.

Am J Med Genet A 2014 May 29;164A(5):1162-9. Epub 2014 Jan 29.

Genetics Unit, Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo (USP), Sao Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.36424DOI Listing
May 2014

The expanding clinical and genetic spectrum of ATP1A3-related disorders.

Neurology 2014 Mar 12;82(11):945-55. Epub 2014 Feb 12.

From the Department of Pediatrics and Adolescent Medicine (H.R., A.O., P.H., L.S., R.S., J.G., K.B.), Division of Pediatric Neurology, University Medical Center Göttingen, Georg August University; Department of Pediatrics (M.B.), Hospital Dritter Orden, Munich, Germany; Departments of Pediatric Neurology (I.C.), Hospital Maria Pia do Centro Hospitalar do Porto, Portugal; 4IRCCS Stella Maris (S.F.), Calambrone, Pisa; Department of Clinical and Experimental Medicine (S.F.), University of Pisa, Italy; Neurogenetics Unit (C.M.L.), Department of Neurology, School of Medicine of Ribeirao Preto, University of Sao Paulo, Brazil; and Children's Hospital of Eastern Ontario (S.S.), Ottawa, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000000212DOI Listing
March 2014

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Lancet Neurol 2013 Dec 30;12(12):1159-69. Epub 2013 Oct 30.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1016/S1474-4422(13)70258-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349523PMC
December 2013

Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants.

Am J Med Genet A 2013 Mar 7;161A(3):479-86. Epub 2013 Feb 7.

Human Genome and Stem Cell Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.35761DOI Listing
March 2013

X-linked adrenoleukodystrophy in heterozygous female patients: women are not just carriers.

Arq Neuropsiquiatr 2012 07;70(7):487-91

Neurogenetics Division, Clinics Hospital, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, SP, Brazil.

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http://dx.doi.org/10.1590/s0004-282x2012000700003DOI Listing
July 2012

Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2.

Neuromuscul Disord 2011 Jun 29;21(6):428-32. Epub 2011 Apr 29.

Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, USP, Brazil.

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http://dx.doi.org/10.1016/j.nmd.2011.03.008DOI Listing
June 2011

Teratogenic effect of retinoic acid in swiss mice.

Acta Cir Bras 2007 Nov-Dec;22(6):451-6

Experimental Pathology, FMRP, USP, São Paulo, Brazil.

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March 2009