Publications by authors named "Clara Barbot"

16Publications

Novel Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype.

J Clin Med 2020 Apr 23;9(4). Epub 2020 Apr 23.

Center for Neurodegenerative Science, Van Andel Institute, Grand Rapids, Michigan, MI 49503, USA.

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http://dx.doi.org/10.3390/jcm9041212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7230264PMC
April 2020

Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.

Am J Hum Genet 2015 Mar 26;96(3):474-9. Epub 2015 Feb 26.

Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.01.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375449PMC
March 2015

Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study.

JAMA Neurol 2013 Jun;70(6):746-55

UnIGENe and Centro de Genetica Preditiva e Preventiva, Institute for Molecular and Cell Biology, Centro Hospitalar do Porto, Porto, Hospital de Sao Sebastiao, Centro Hospitalar de entre Douro e Vouga, Santa Maria da Feira, Portugal.

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http://dx.doi.org/10.1001/jamaneurol.2013.1707DOI Listing
June 2013

Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.

J Inherit Metab Dis 2011 Jun 24;34(3):835-42. Epub 2011 Feb 24.

Unidade de Doenças Metabólicas, Hospital de Crianças Maria Pia, Rua da Boavista, 827, 4050-111 Porto, Portugal.

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http://dx.doi.org/10.1007/s10545-011-9287-7DOI Listing
June 2011

[Cerebellar hypoplasias].

Acta Med Port 2010 Sep-Oct;23(5):841-52. Epub 2010 Oct 22.

Serviço de Neurorradiologia, Hospital Pedro Hispano, Matosinhos.

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March 2011

Infantile neuroaxonal dystrophy: what's most important for the diagnosis?

Eur J Paediatr Neurol 2008 Nov 21;12(6):491-500. Epub 2008 Mar 21.

Department of Child Neurology, Hospital de Crianças Maria Pia, Rua da Boavista, 827, 4050-111 Porto, Portugal.

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http://dx.doi.org/10.1016/j.ejpn.2008.01.005DOI Listing
November 2008

Outcome of three cases of untreated maternal glutaric aciduria type I.

Eur J Pediatr 2008 May 28;167(5):569-73. Epub 2007 Jul 28.

Hospital Pediátrico de Coimbra, Av. Bissaya Barreto, 3000 Coimbra, Portugal.

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http://dx.doi.org/10.1007/s00431-007-0556-2DOI Listing
May 2008

Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy.

Biochem Biophys Res Commun 2007 Mar 23;354(4):937-41. Epub 2007 Jan 23.

Instituto de Genética Médica Jacinto de Magalhães, Praça Pedro Nunes, 88, 4099-028 Porto, Portugal.

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http://dx.doi.org/10.1016/j.bbrc.2007.01.068DOI Listing
March 2007

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