Publications by authors named "Jorge Pinto-Basto"

26Publications

The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease.

Acta Myol 2019 Sep 1;38(3):180-183. Epub 2019 Sep 1.

Neuromuscular Disease Unit, Neurology Department, Coimbra University and Hospital Centre, Coimbra, Portugal.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6859411PMC
September 2019

Bethlem myopathy in a Portuguese patient - case report.

Acta Myol 2017 Sep 1;36(3):178-181. Epub 2017 Sep 1.

Neuromuscular Disease Unit, Neurology Department, Coimbra University and Hospital Center, Coimbra, Portugal.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953228PMC
September 2017

Refractory epilepsy in Norrie disease.

Neurol Sci 2018 09 3;39(9):1631-1633. Epub 2018 May 3.

Neurophisiology Departement, Hospital de Santo António, Centro Hospitalar do Porto, Porto, Portugal.

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http://dx.doi.org/10.1007/s10072-018-3428-9DOI Listing
September 2018

Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype.

Neuropediatrics 2018 06 9;49(3):217-221. Epub 2018 Apr 9.

Child Neuropsychiatry Unit, Epilepsy Centre, Head Neck Neuroscience Department, Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1055/s-0038-1639372DOI Listing
June 2018

DOK7 myasthenic syndrome with subacute adult onset during pregnancy and partial response to fluoxetine.

Neuromuscul Disord 2018 03 13;28(3):278-282. Epub 2017 Dec 13.

Department of Neurology, Hospital Prof. Doutor Fernando Fonseca, EPE, IC 19, 2720-276 Amadora, Portugal.

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http://dx.doi.org/10.1016/j.nmd.2017.12.005DOI Listing
March 2018

Whole Gene Deletion of Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease.

Front Genet 2017 9;8:143. Epub 2017 Oct 9.

Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal.

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http://dx.doi.org/10.3389/fgene.2017.00143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5640723PMC
October 2017

A New Mutation Causing Progressive Familiar Intrahepatic Cholestasis Type 3 in Association with Autoimmune Hepatitis.

Eur J Case Rep Intern Med 2017 27;4(2):000537. Epub 2017 Mar 27.

Liver and Pancreatic Transplantation Unit, Centro Hospitalar do Porto - Hospital de Santo António, Porto, Portugal.

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http://dx.doi.org/10.12890/2016_000537DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346900PMC
March 2017

Elevation of gamma-glutamyl transferase in adult: Should we think about progressive familiar intrahepatic cholestasis?

Dig Liver Dis 2016 Feb 1;48(2):203-5. Epub 2015 Dec 1.

Department of Internal Medicine, Centro Hospitalar do Porto - Hospital de Santo António, Porto, Portugal; Liver and Pancreatic Transplantation Unit, Centro Hospitalar do Porto - Hospital de Santo António, Porto, Portugal; Instituto de Ciências Biomédicas Abel Salazar (ICBAS) - Universidade do Porto, Porto, Portugal; Instituto de Saúde Publica da Universidade do Porto (ISPUP) - Universidade do Porto, Porto, Portugal.

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http://dx.doi.org/10.1016/j.dld.2015.11.002DOI Listing
February 2016

A Distinct Phenotype in a Novel ATP1A3 Mutation: Connecting the Two Ends of a Spectrum.

Mov Disord Clin Pract 2016 Jul-Aug;3(4):398-401. Epub 2015 Nov 28.

Center for Child Development Torrado da Silva Hospital Garcia de Orta Almada Portugal.

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http://dx.doi.org/10.1002/mdc3.12263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353589PMC
November 2015

[Osteopathia striata with cranial sclerosis].

Acta Med Port 2010 Nov-Dec;23(6):1147-50. Epub 2010 Dec 28.

Centro de Genética Médica Dr. Jacinto Magalhães, Departamento de Genética, Instituto Nacional de Saúde Dr. Ricardo Jorge, Porto.

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October 2011

Sensory neuronopathy in ataxia with oculomotor apraxia type 2.

J Neurol Sci 2010 Nov 24;298(1-2):118-20. Epub 2010 Sep 24.

Service of Neurology, Hospital Universitario Miguel Servet, Zaragoza, Spain.

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http://dx.doi.org/10.1016/j.jns.2010.09.004DOI Listing
November 2010

Scope of definitions of genetic testing: evidence from a EuroGentest survey.

J Community Genet 2010 Mar 16;1(1):29-35. Epub 2010 Mar 16.

UnIGENe and CGPP, IBMC-Institute for Molecular and Cell Biology, University of Porto, R. Campo Alegre 823, 4150-180, Porto, Portugal.

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http://dx.doi.org/10.1007/s12687-010-0004-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3185974PMC
March 2010

Muenke syndrome with osteochondroma.

Am J Med Genet A 2009 Feb;149A(2):260-1

Centro de Genética Médica Dr Jacinto Magalhães, Instituto Nacional de Saúde Dr Ricardo Jorge, Porto, Portugal.

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http://dx.doi.org/10.1002/ajmg.a.32616DOI Listing
February 2009

Inherited and acquired risk factors and their combined effects in pediatric stroke.

Pediatr Neurol 2003 Feb;28(2):134-8

Serviço de Neuropediatria, Hospital de Crianças Maria Pia, Porto, Portugal.

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http://dx.doi.org/10.1016/s0887-8994(02)00506-4DOI Listing
February 2003