Publications by authors named "Isabel Fineza"

17Publications

A Bizarre Gait as a Result of Overlapping Functional Disorder With Coffin-Lowry Syndrome.

Mov Disord Clin Pract 2019 Jul 22;6(6):491-493. Epub 2019 May 22.

Neurology Department Centro Hospitalar e Universitário de Coimbra Coimbra Portugal.

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http://dx.doi.org/10.1002/mdc3.12778DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6660236PMC
July 2019

GNAO1 mutation presenting as dyskinetic cerebral palsy.

Neurol Sci 2019 Oct 12;40(10):2213-2216. Epub 2019 Jun 12.

Department of Neurology, Centro Hospitalar do Porto, Largo Professor Abel Salazar, 4099-001, Porto, Portugal.

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http://dx.doi.org/10.1007/s10072-019-03964-7DOI Listing
October 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

Bilateral Thalamic Lesions in Acute Necrotizing Encephalopathy Due to H1N1 Infection.

Pediatr Neurol 2016 Dec 20;65:96-97. Epub 2016 Aug 20.

Department of Pediatric Neurology, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.08.008DOI Listing
December 2016

New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.

J Hum Genet 2015 Jun 5;60(6):305-12. Epub 2015 Mar 5.

1] Departamento de Microscopia, Laboratório de Biologia Celular, Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Porto, Portugal [2] Unidade Multidisciplinar de Investigação Biomédica (UMIB), Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Porto, Portugal [3] Centro de Genética da Reprodução Professor Alberto Barros, Porto, Portugal.

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http://dx.doi.org/10.1038/jhg.2015.20DOI Listing
June 2015

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

A 15-year follow-up of first unprovoked seizures: a prospective study of 200 children.

Epileptic Disord 2014 Mar;16(1):50-5

Centro de Desenvolvimento Luís Borges - Centro Hospitalar Universitário de Coimbra, Portugal.

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http://dx.doi.org/10.1684/epd.2014.0643DOI Listing
March 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

Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome.

Epileptic Disord 2013 Dec;15(4):400-6

Centro de Desenvolvimento Luís Borges, Hospital Pediátrico - Centro Hospitalar Universitário de Coimbra, Portugal, Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center Amsterdam, The Netherlands.

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http://link.springer.com/content/pdf/10.1684/epd.2013.0610.p
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http://dx.doi.org/10.1684/epd.2013.0610DOI Listing
December 2013

Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity.

Pediatr Neurol 2014 Jan 13;50(1):104-7. Epub 2013 Oct 13.

Unidade de Neuropediatria, Centro de Desenvolvimento da Criança Luis Borges, Hospital Pediátrico de Coimbra, Centro Hospitalar Universitário de Coimbra, Portugal.

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.08.028DOI Listing
January 2014

[Cerebral creatine deficiency syndromes].

Acta Med Port 2012 Nov-Dec;25(6):389-98. Epub 2013 Jan 28.

Faculdade de Medicina da Universidade de Coimbra, Coimbra, Portugal.

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March 2014

Value of brain magnetic resonance imaging in mitochondrial respiratory chain disorders.

Pediatr Neurol 2010 Mar;42(3):196-200

Metabolic Diseases Unit, Luís Borges Center for Child Development, Pediatric Hospital of Coimbra-CHC EPE, Coimbra, Portugal.

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http://dx.doi.org/10.1016/j.pediatrneurol.2009.09.010DOI Listing
March 2010

Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.

J Hum Genet 2008 11;53(6):565-572. Epub 2008 Mar 11.

Unidade de Genética Molecular, Centro de Genética Médica Dr. Jacinto Magalhães, INSA, Porto, Portugal.

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http://dx.doi.org/10.1007/s10038-008-0263-5DOI Listing
August 2008

Spinal muscular atrophy--noninvasive ventilatory support in pediatrics.

Rev Port Pneumol 2005 Sep-Oct;11(5):443-55

Sleep and Respiration Laboratory.

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http://dx.doi.org/10.1016/s0873-2159(15)30520-1DOI Listing
February 2006