about
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the ciliumThe gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxinInfantile neuroaxonal dystrophy: what's most important for the diagnosis?High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal allelesShort-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study.Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.Liver transplantation prevents progressive neurological impairment in argininemiaNeurodegeneration associated with genetic defects in phospholipase A(2).Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes.Variant Creutzfeldt-Jakob disease: the first confirmed case from Portugal shows early onset, long duration and unusual pathology.Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation.Inherited and acquired risk factors and their combined effects in pediatric stroke.Outcome of three cases of untreated maternal glutaric aciduria type I.L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients.Distinguishing the four genetic causes of Jouberts syndrome-related disorders.Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy.Expanding CEP290 mutational spectrum in ciliopathiesUtilidad 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 hematoencefálicaMovement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation typeLAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patientsClinical and molecular studies in three Portuguese mtDNA T8993G familiesLiver transplantation in a case of argininaemia[Sturge-Weber syndrome -clinical and neuroimaging variability]
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Clara Barbot
@ast
Clara Barbot
@en
Clara Barbot
@es
Clara Barbot
@nl
Clara Barbot
@sl
type
label
Clara Barbot
@ast
Clara Barbot
@en
Clara Barbot
@es
Clara Barbot
@nl
Clara Barbot
@sl
prefLabel
Clara Barbot
@ast
Clara Barbot
@en
Clara Barbot
@es
Clara Barbot
@nl
Clara Barbot
@sl
P1053
K-6378-2013
P106
P1153
36681293600
7003345497
P21
P31
P496
0000-0002-5597-107X