Formação Académica
Doutoramento em Ciências Médicas, ICBAS, Universidade do Porto, 2008
Licenciatura, Faculdade de Medicina, Universidade do Porto, 1976

Cargos
Directora do Serviço de Neuropediatra, Centro Hospitalar do Porto (1998 – 2010)
Investigadora, IBMC (UnIGENe)

Área de actividade profissional e científica
– Projecto PECS/C/SAU/219/95 (1996-1999) – Survey of Heditary Ataxia in Portugal, Programa Específico para as Ciências da Saúde da JNICT – protocolo com a Comissão de Fomento da Investigação em Cuidados de Saúde do Ministério da Saúde) (PI: Paula Coutinho)
– Comissão de Fomento de Investigação em Cuidados de Saúde (2000-2001) – Ataxia with Oculomotor Apraxia in Portugal: a clinical and molecular study (PI: Clara Barbot)
– Projecto POCTI/ESP/32643/1999 (2000-2003) – Survey of hereditary ataxias and spastic paraplegias in Portugal (PI: Paula Coutinho)
– Projecto POCTI/ESP/34535/99 (2001-2004) – Genetics of Friedreich, AOA and other common recessive ataxias in Portugal (PI: Jorge Sequeiros)
– Projecto POCTI/SAL-ESP/59114/2004 (2005-2008) – After the survey: collecting DNA, helping to find new loci and genes for hereditary ataxias and spastic paraplegias. (PI: Paula Coutinho)

Prémios
– Clara Barbot. 3º Prémio Centro de Genética Clínica (CGC) Professor Doutor Amândio Tavares. Ataxia com apraxia oculomotora (AOA):desenvolvimento de novos testes genéticos – 2009

Publicações selecionadas
– Temudo T, Santos M, Ramos E, Dias K, Vieira JP, Moreira A, Calado E, Carrilho I, Oliveira G, Levy A, Barbot C, Fonseca M, Cabral A, Cabral P, Monteiro J, Borges L, Gomes R, Mira G, Aires Pereira S, Santos M, Fernandes A, Epplen JT, Sequeiros J, Maciel P. Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes. Brain Dev. 2011; 33:6-76
– Ataxia with Oculomotor Apraxia Type 1. Coutinho P, Barbot C. In: Pagon RA, Bird Tc, Dolan CR, Stephens K, editors. GeneReviews (Internet).Seattle (WA): University of Washington. Last Update: June 2010
– Barbot C, Castro L, Oliveira C, Carpenter S. Variant Creutzfeldt-Jakob disease :the first confirmed case from Portugal shows early onset, long duration and unusual pathology. J Neurol, Neurosurg Psychiatry 2010; 81:112-4
– Anheim M, Monga B, Fleury M, Charles P, Barbot C, Salih M, Delaunoy JP, Fritsch M, Arning L, Synofzik M, Schols L, Sequeiros J, Goizet C, Marelli C, Le Ber I, Koht J, Gazulla J, De Bleecker J, Mukhtar M, Drouot N, Ali-Pacha L, Benhassine T, Chbicheb M, M’Zahem A, Hamri A, Chabrol B, Pouget J, Murphy R, Watanabe M, Coutinho P, Tazir M, Durr A, Brice A, Tranchant C, Koenig M. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain 2009; 132:2688-98
– Oliveira J, Santos R, Soares-Silva I, Jorge P, Vieira E, Oliveira ME, Moreira A, Coeho T, Ferreira JC, Fonseca MJ, Barbosa C, Prats J, Aríztegui ML, Martins Ml, Moreno T, Heiniman K, Barbot C, Pascual.Pascual SI, Cabral A, Fineza I, Santos M, Bronze-da-Rocha E. LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.Clin Genet 2008; 74(6):502-12
– Gregory A, Westaway SK, Holm IE, Kotzbauer PT, Hogarth P, Sonek S, Coryell JC, Nguyen TM, Nardocci N, Zorzi G, Rodriguez D, Desguerre I, Bertini E, Simonati A, Levison B, Dias C, Barbot C, Carrilho I, Santos M, Malik I, Gitschier J, Hayfick SJ. Neurodegeneration associated with genetic defects in phospholipase A2. Neurology 2008; 71 (18):1402-9
– Carrilho I, Santos M, Guimarães A, Teixeira J, Chorão R, Dias C, Gregory A, Westaway S, Nguyen T, Hayflick S, Barbot C. Infantile Neuroaxonal Dystrophy: what’s more important for the diagnosis? Eur J Paediatr Neurol 2008; 12:491-500
Nogueira C, Aiello C, Cerone R, Martins E, Caruso U, Moroni I, Rizzo C, Diogo L, Leão E, Kok — F, Deodato F, Schiaffino MC, Boenzi S, Danhaive O, Barbot C, Sequeira S, Locatelli M, Santorelli FM, Uziel G, Vilarinho L, Dionisi-Vici C. Spectrum of MMCHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cbICtype. Mol Genet Metab 2008; 93:475-80
– Garcia P, Martins E, Diogo L, Rocha H, Marcão A, Gaspar E, Almeida M, Vaz C, Soares I, Barbot C, Vilarinho L. Outcome of three cases of untreated maternal glutaric aciduria. Eur J Pediatr 2008; 167:569-73
– Temudo T, Ramos E, Dias K, Barbot C, Vieira JP, Moreira A, Calado E, Carrilho I, Oliveira G, Levy Miroverve A Fonseca M, Cabral A, Cabral P, Monteiro JP, Borges L, Gomes R, Santos M, Sequeiros J, Maciel P. Movement disorders in Rett Syndrome: analysis of 60 patients with detected MECP2 mutation and correlation with mutation type. Mov Disord 2008; 23:1384-90
– Pereira C, Nogueira C, Barbot C, Tessa A, Soares C, Fattori F, Guimarães A, Santorelli F, Vilarinho L. Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy. Biochem Biophys Res Commun 2007; 354:937-41
-Temudo T,Oliveira P, Santos M, Dias K, Vieira J, Moreira A, Calado E, Carrilho I, Oliveira G, Levy A, Barbot C, Fonseca M, Cabral A,Dias A, Cabral P, Monteiro J, Borges L, Gomes R, Barbosa C, Mira G, Eusébio F, Santos M, Sequeiros J, Maciel P. Stereotypies in Rett syndrome: analysis of 83 patients with detected MECP2 mutations. Neurology 2007; 68:1183-7
– Valente EM, Marsh ME, Castor M, Dixon-Salazar T, Bertini E, Al-Gazali L, Messer J, Barbot C, Woods CG, Boltshauser E, Al-Tawar AA, Salpietro CD, Kayserilli H, Sztriha L, Gribaa M, Koenig M, Dallapiccola B, Gleeson J. Distinguishing the Four Genetic Causes of Joubert Syndrome-Related Disorders. Ann Neurol 2005; 57: 513-19
– Vilarinho L, Cardoso ML, Gaspar P, Barbot C, Azevedo L, Diogo L, Santos M, Carrilho I, Fine­za I, Kok F, Chorão R, Alegria P, Martins E, Teixeira J, Cabral Fernandes H, Verhoeven NM, Salomons GS, Santorelli FM, Cabral P, Amorim A, Jakobs C. Novel mutations in 21 patients with L-2-Hydroxyglutaric Aciduria of Portuguese origin. Human Mutation 2005; 26: 395-6- Lagier-Tourenne C, Boltshauser E, Breivik N, Gribaa M, Bétard C, Barbot C, Koenig M. Homozygosity mapping of Joubert syndrome to 6q23. J Med Genet 2004; 41:273-7
– Moreira MC, Klur S, Watanabe M, Németh AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schöls L, Pandolfo M, Schulz JB, Pouget J, Calvas P, Shizuka-Ikeda M, Shoji M, Tanaka M, Izatt L, Shaw CE, Dunne E, Bomont P, Benhassine T, Bouslam N, Brice A, Guimarães J, Mendonça P, Barbot C, Coutinho P, Sequeiros J, Durr A, Warter JM, Koenig M. Senataxin, the orthologue of a yeast RNA helicase, is mutated in ataxia-ocular apraxia 2 (AOA2). Nat Genet 2004; 36:225-7
– Barreirinho S, Teixeira J, Moreira N, Bastos C, Gonçalves S, Barbot C. Síndrome de Joubert: revision de 12 casos. Rev Neurol 2001; 32:812-17
Barbot C., Coutinho P, Chorão R, Ferreira C, Barros J, Fineza I, Dias K, Monteiro JP, Guimarães A, Mendonça P, Moreira MC, Sequeiros J. Recessive ataxia with ocular apraxia: review of 22 Portuguese patients. Arch Neurol 2001; 8:201-5
– Moreira MC, Barbot C., Tachi N, Kozuka N, Mendonça P, Barros J, Coutinho P, Sequeiros J, Koenig M. Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia (AOA1) to 9p13 and evidence for genetic heterogeneity. Am J Hum Genet 2001; 68:501-8
– Moreira MC, Barbot C., Tachi N, Kozuka N, Uchida E, Gibson T, Mendonça P, Costa M, Barros J, Yanagisawa T, Watanabe M, Ikeda Y, Aoki M, Nagata T, Coutinho P, Sequeiros J, Koenig M. The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nat Genet 2001; 29:189-93
– Vilarinho L, Leão E, Barbot C, Santos M, Rocha H, Santorelli FM. Clinical and molecular studies in three portuguese families harboring the mitochondrial t8993g mutation. Pediatr Neurol 2000; 22:29-32
– Silveira I, Alonso I, Guimarães L, Mendonça P, Santos C, Maciel P, Fidalgo de Matos JM, Costa M, Barbot C, Tuna A, Barros J, Jardim L, Coutinho P, Sequeiros J. High germinal instability of the (ctg)n repeat at the sca8 locus with expansions of normal alleles. Am. J. Hum. Genet 2000;66:830-40
– Barbot C, Fineza I, Diogo L, Melo J, Guimarães A, Melo Pires M, Cardoso ML, Vilarinho L. L-2-Hydroxyglutaric Aciduria: Clinical, Biochemical and Magnetic Resonance Imaging in 6 Portuguese Pediatric Patients. Brain Dev 1997; 19: 268-73
– Barbot C, Carneiro G, Melo. Pontocerebellar Hypoplasia with Microcephaly and Dyskinesia (Pontocerebellar Hypoplasia type 2) – report of two cases. J. Dev Med Child Neurol 1997; 39:554-7
– Barbot C, Martins E, Dorche C, Vilarinho L, Cardoso ML. A Mild Form of Infantile Isolated Sulphite Oxidase Deficiency. Neuropediatrics 1995; 26: 322-24