Publications by authors named "Jose Pedro Vieira"

25Publications

Leigh Syndrome with atypical cerebellum imaging features.

eNeurologicalSci 2020 Mar 23;18:100214. Epub 2019 Nov 23.

Department of Neuroradiology, Centro Hospitalar de Lisboa Central, 1150-199 Lisboa, Portugal.

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http://dx.doi.org/10.1016/j.ensci.2019.100214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7037537PMC
March 2020

Leigh syndrome with atypical cerebellar lesions.

eNeurologicalSci 2019 Sep 28;16:100197. Epub 2019 Jun 28.

Department of Neuroradiology, Centro Hospitalar de Lisboa Central, R. José António Serrano, 1150-199 Lisboa, Portugal.

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http://dx.doi.org/10.1016/j.ensci.2019.100197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6614543PMC
September 2019

Infection Mimicking Headache, Neurologic Deficits, and Cerebrospinal Fluid Lymphocytosis.

J Child Neurol 2019 10 28;34(12):748-750. Epub 2019 Jun 28.

3 Infectious Diseases Department, National Institute of Health, Lisbon, Portugal.

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http://dx.doi.org/10.1177/0883073819858263DOI Listing
October 2019

Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction.

Mitochondrion 2019 07 1;47:309-317. Epub 2019 Mar 1.

Research & Development Unit, Human Genetics Department, National Institute of Health Doutor Ricardo Jorge, Porto, Portugal; Newborn Screening, Metabolism & Genetics Unit, Human Genetics Department, National Institute of Health Doutor Ricardo Jorge, Porto, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2019.02.006DOI Listing
July 2019

Fatal Central Nervous System Lymphocytic Vasculitis after Treatment for Burkitt Lymphoma in a Patient with a SH2D1A Mutation.

Pediatr Infect Dis J 2019 02;38(2):e29-e31

Centre for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institute, Karolinska University Hospital Huddinge.

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http://dx.doi.org/10.1097/INF.0000000000002154DOI Listing
February 2019

Screening for Pompe disease in a Portuguese high risk population.

Neuromuscul Disord 2017 Aug 29;27(8):777-781. Epub 2017 Mar 29.

Serviço de Neurologia, Hospital de Santa Maria (Centro Hospitalar de Lisboa Norte, EPE), Av. Professor Egas Moniz, 1649-035 Lisboa, Portugal.

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http://dx.doi.org/10.1016/j.nmd.2017.03.010DOI Listing
August 2017

Identification of novel genetic causes of Rett syndrome-like phenotypes.

J Med Genet 2016 Mar 6;53(3):190-9. Epub 2016 Jan 6.

Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal ICVS/3B's-PT Government Associate Laboratory, Braga/Guimarães, Portugal.

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http://dx.doi.org/10.1136/jmedgenet-2015-103568DOI Listing
March 2016

Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene.

Int J Dev Neurosci 2015 Nov 10;46:82-7. Epub 2015 Aug 10.

Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal; ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.ijdevneu.2015.07.010DOI Listing
November 2015

Importance of cutaneous changes in the diagnosis of neurological diseases.

Einstein (Sao Paulo) 2014 Oct-Dec;12(4):529-30. Epub 2014 Aug 29.

Serviço de Neurologia, Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisboa, Portugal.

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http://dx.doi.org/10.1590/S1679-45082014AI2931DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4879927PMC
May 2015

Anti-N-methyl-D-aspartate receptor encephalitis with positive serum antithyroid antibodies, IgM antibodies against mycoplasma pneumoniae and human herpesvirus 7 PCR in the CSF.

Pediatr Infect Dis J 2014 Aug;33(8):882-3

From the *Hospital Dona Estefânia, Centro Hospitalar Central (CHLC), Infectious Diseases Unit; and †Hospital Dona Estefânia, Centro Hospitalar Central (CHLC), Pediatric Intensive Care Unit, Lisbon, Portugal.

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http://dx.doi.org/10.1097/INF.0000000000000408DOI Listing
August 2014

New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.

J Hum Genet 2014 Aug 10;59(8):454-64. Epub 2014 Jul 10.

1] Departamento de Ciências Biológicas, Laboratório de Bioquímica, Faculdade de Farmácia, Universidade do Porto, Porto, Portugal [2] Instituto de Biologia Molecular e Celular, Universidade do Porto, Porto, Portugal.

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http://dx.doi.org/10.1038/jhg.2014.54DOI Listing
August 2014

GM1 gangliosidosis, late infantile onset dystonia, and T2 Hypointensity in the globus pallidus and substantia Nigra.

Pediatr Neurol 2013 Sep 4;49(3):195-7. Epub 2013 Jul 4.

Neurology Department, Hospital Dona Estefânia, Centro Hospitalar de, Lisboa Central, Portugal.

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.02.003DOI Listing
September 2013

Sulfite oxidase deficiency--an unusual late and mild presentation.

Brain Dev 2014 Feb 27;36(2):176-9. Epub 2013 Feb 27.

Metabolic Diseases Unit, Hospital de Dona Estefânia, Centro Hospitalar Lisboa Central EPE, Lisbon, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2013.01.013DOI Listing
February 2014

Caucasian familial moyamoya syndrome with rare multisystemic malformations.

Pediatr Neurol 2013 Mar;48(3):240-3

Neurology Department, Faro Hospital EPE, Faro, Portugal.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.11.009DOI Listing
March 2013

Bilateral facial palsy: a form of neuroborreliosis presentation in paediatric age.

BMJ Case Rep 2013 Feb 8;2013. Epub 2013 Feb 8.

Department of Pediatrics, Hospital Dona Estefânia, CHLC, Lisboa, Portugal.

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http://dx.doi.org/10.1136/bcr-2012-008060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3603661PMC
February 2013

[Spinal muscular atrophy: descriptive analysis of a case series].

Acta Med Port 2011 Dec 31;24 Suppl 2:95-102. Epub 2011 Dec 31.

Serviço de Medicina Física e de Reabilitação, Hospital Dona Estefânia, Lisboa, Portugal.

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December 2011

Primary ciliary dyskinesia and hydrocephalus with aqueductal stenosis.

J Child Neurol 2012 Jul 30;27(7):938-41. Epub 2012 Jan 30.

Department of Neurology, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisbon, Portugal.

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http://dx.doi.org/10.1177/0883073811429856DOI Listing
July 2012

Methadone intoxication in a child: toxic encephalopathy?

J Child Neurol 2006 Jul;21(7):618-20

Intensive Care Unit, Hospital de Dona Estefânia, Lisbon, Portugal.

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http://dx.doi.org/10.1177/08830738060210071101DOI Listing
July 2006

Lupus myelopathy in a child.

Pediatr Neurol 2002 Oct;27(4):303-6

Neurology Department, Hospital de Dona Estefânia, Lisbon, Portugal.

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http://dx.doi.org/10.1016/s0887-8994(02)00439-3DOI Listing
October 2002