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List of works by Clara Barbot

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

scientific article published on 20 August 2009

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

scientific article

Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation.

scientific article published in December 2001

Clinical and molecular studies in three Portuguese mtDNA T8993G families

scientific article published on 01 January 2000

Distinguishing the four genetic causes of Jouberts syndrome-related disorders

scientific article published in April 2005

Expanding CEP290 mutational spectrum in ciliopathies

scientific article published on 01 October 2009

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

scientific article

High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles

scientific article

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

scientific article published on 23 January 2007

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

scientific article

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

scientific article published in February 2003

L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients.

scientific article published in June 1997

LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients

article

Liver transplantation in a case of argininaemia

scientific article published on 01 December 2001

Liver transplantation prevents progressive neurological impairment in argininemia

scientific article published on 05 April 2013

Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type

article

Neurodegeneration associated with genetic defects in phospholipase A(2).

scientific article published on 17 September 2008

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

scientific article published on 28 July 2007

Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes.

scientific article published on 8 February 2010

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

scientific article

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

scientific article

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

scientific article

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

scientific article (publication date: October 2001)

Utilidad del análisis del líquido cefalorraquídeo para el estudio de las deficiencias del metabolismo de neurotransmisores y pterinas y del transporte de glucosa y folato a través de la barrera hematoencefálica

Variant Creutzfeldt-Jakob disease: the first confirmed case from Portugal shows early onset, long duration and unusual pathology

scientific article published in January 2010

[Sturge-Weber syndrome -clinical and neuroimaging variability]

scientific article published on 27 June 2012

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