Publications by authors named "Teresa Temudo"

23Publications

Two Compound Heterozygous Variants in Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20.

Front Genet 2020 24;11:1038. Epub 2020 Sep 24.

Unidade de Genética Molecular, Centro de Genética Médica Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUP), Porto, Portugal.

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http://dx.doi.org/10.3389/fgene.2020.01038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7543990PMC
September 2020

Christmas nativity scene.

Authors:
Teresa Temudo

Neurology 2020 09 20;95(10):450-451. Epub 2020 Jul 20.

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http://dx.doi.org/10.1212/WNL.0000000000010432DOI Listing
September 2020

Child Neurology: Myoclonus-dystonia in Russell-Silver Syndrome: Two syndromes caused by one genetic defect.

Neurology 2020 08 7;95(7):e936-e938. Epub 2020 Jul 7.

From the Pediatric Neurology Unit (J.M., T.T.) and Pediatric Endocrinology Unit (T.B.), Centro Materno Infantil do Norte; Neurology Department (D.G.); and Medical Genetics Department (G.S.), Centro de Genética Médica Dr. Jacinto Magalhães; Centro Hospitalar Universitário do Porto (J.M., T.B., G.S., T.T.), Porto, Portugal.

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http://dx.doi.org/10.1212/WNL.0000000000010076DOI Listing
August 2020

Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients.

Mov Disord Clin Pract 2019 Nov 25;6(8):704-707. Epub 2019 Oct 25.

Pediatric Neurology Department, Centro Materno Infantil do Norte Centro Hospitalar Universitário do Porto Porto Portugal.

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http://dx.doi.org/10.1002/mdc3.12842DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856458PMC
November 2019

Prevalence and determinants of motor stereotypies in autism spectrum disorder: A systematic review and meta-analysis.

Autism 2020 04 25;24(3):569-590. Epub 2019 Sep 25.

Pediatric Neurology Department, Centro Materno-Infantil, Centro Hospitalar do Porto, Porto, Portugal.

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http://dx.doi.org/10.1177/1362361319869118DOI Listing
April 2020

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

Resective surgery in the treatment of super-refractory partial status epilepticus secondary to NMDAR antibody encephalitis.

Eur J Paediatr Neurol 2014 May 16;18(3):449-52. Epub 2014 Feb 16.

Neuropediatrics Department, Centro Hospitalar do Porto, Portugal.

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http://dx.doi.org/10.1016/j.ejpn.2014.01.013DOI Listing
May 2014

Hand stereotypies distinguish Rett syndrome from autism disorder.

Mov Disord 2012 Jul 18;27(8):1060-2. Epub 2012 Jun 18.

Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA.

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http://dx.doi.org/10.1002/mds.25057DOI Listing
July 2012

Abnormal movements in Rett syndrome are present before the regression period: a case study.

Mov Disord 2007 Nov;22(15):2284-7

Unidade de Neuropediatria, Serviço de Pediatria, Hospital Geral de Santo António, Porto, Portugal.

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http://dx.doi.org/10.1002/mds.21744DOI Listing
November 2007

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

Epilepsia 2007 Sep 11;48(9):1678-1685. Epub 2007 Jun 11.

Epilepsy, Neurophysiology and Neurogenetic Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, ItalyNeurogenetic Laboratory, Pediatric Hospital A. Meyer, Florence, ItalyUnidade de Neuropediatria, Seviço de Pediatria, Hospital Geral de Santo António, Porto, PortugalChild Neurology Unit, Pediatric Hospital A. Meyer, Florence, ItalyPediatric Neurology Unit, Hospital Dona Estefania, Lisbon, PortugalClinical Neurophysiology and Developmental Neuropsychiatry, School of Life and Health Sciences, Aston University, The Birmingham Children's Hospital NHS Trust, Birmingham, United KingdomNeurosciences Unit, Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, United KingdomPediatric Neurology Unit, Clínica Universitaria de Navarra, Pamplona, SpainCambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge, United KingdomDepartment of Neurosciences, Division of Neurology, Bellaria Hospital, Bologna, ItalyChild Neurology and Psychiatry Unit, Ospedale S. Chiara, Trento, ItalyUniversity of Florence, Florence, Italy.

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http://dx.doi.org/10.1111/j.1528-1167.2007.01122.xDOI Listing
September 2007

Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR).

Hum Mutat 2005 May;25(5):505

Department of Molecular Genetics and Molecular Diagnosis, City of Hope National Medical Center, Duarte, California 91010-3000, USA.

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http://dx.doi.org/10.1002/humu.9338DOI Listing
May 2005