Maria Clara Barcelos de Morais Barbot


AuthID: R-000-AQR

Confirmed Publications: 58



21
TITLE: Stereotypies in Rett syndrome - Analysis of 83 patients with and without detected MECP2 mutations
AUTHORS: 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; Eusebio, F; Santos, M; Sequeiros, J ; Maciel, P ; ...More
PUBLISHED: 2007, SOURCE: NEUROLOGY, VOLUME: 68, ISSUE: 15
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID
22
23
TITLE: Neuroimaging features in mucopolysaccharidosis: their correlation with mental retardation
AUTHORS: Sa, G; Teixeira, JF; Cruz, R; Barbot, C ; Martins, E ;
PUBLISHED: 2006, SOURCE: REVISTA DE NEUROLOGIA, VOLUME: 43, ISSUE: 12
INDEXED IN: Scopus WOS
IN MY: ResearcherID
24
TITLE: Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier
AUTHORS: Aida Ormazabal; Angels G Garcia Cazorla; Belen P Perez Duenas; Merce Pineda; Angeles Ruiz; Eduardo L Lopez Laso; Maite G Garcia Silva; Ines Carilho; Clara Barbot ; Bru Cormand; Marta Ribases; Lisbeth Moller; Emilio F Fernandez Alvarez; Jaume Campistol; Rafael Artuch;
PUBLISHED: 2006, SOURCE: MEDICINA CLINICA, VOLUME: 127, ISSUE: 3
INDEXED IN: Scopus WOS
IN MY: ORCID | ResearcherID
25
TITLE: A molecular classification of Joubert syndrome
AUTHORS: Valente, EM; Marsh, SE; Louis, CM; Silhavey, J; Castori, M; Dixon Salazar, T; Bertini, E; Al Gazali, L; Messer, J; Barbot, C ; Woods, CG; Boltshauser, E; Al Tawari, AA; Salpietro, CD; Kayserili, H; Sztriha, L; Gribaa, M; Koenig, M; Dallapiccola, B; Gleeson, JG; La Jolla, CA; ...More
PUBLISHED: 2005, SOURCE: 34th Annual Meeting of the Child-Neurology-Society in ANNALS OF NEUROLOGY, VOLUME: 58
INDEXED IN: WOS
IN MY: ORCID | ResearcherID
26
TITLE: Cyclic vomiting/glutaric aciduria type II - Case report [Vómitos cíclicos/acidúria glutárica tipo II - Caso clínico]
AUTHORS: Sarmento, A; Cardoso, ML; Teixeira, F; Barbot, C ; Martins, E ;
PUBLISHED: 2005, SOURCE: Nascer e Crescer, VOLUME: 14, ISSUE: 1
INDEXED IN: Scopus
IN MY: ORCID
27
TITLE: Distinguishing the four genetic causes of Jouberts syndrome - Related disorders. (vol 57, pg 513, 2005)  Full Text
AUTHORS: Valente, EM; Marsh, SE; Castori, M; Dixon Salazar, T; Bertini, E; Al Gazali, L; Messer, J; Barbot, C ; Woods, CG; Boltshauser, E; Al Tawari, AA; Salpietro, CD; Kayserili, H; Sztriha, L; Gribaa, M; Koenig, M; Dallapiccola, B; Gleeson, JG;
PUBLISHED: 2005, SOURCE: ANNALS OF NEUROLOGY, VOLUME: 57, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID
28
TITLE: Distinguishing the four genetic causes of Jouberts syndrome-related disorders  Full Text
AUTHORS: Valente, EM; Marsh, SE; Castori, M; Dixon Salazar, T; Bertini, E; Al Gazali, L; Messer, J; Barbot, C ; Woods, CG; Boltshauser, E; Al Tawari, AA; Salpietro, CD; Kayserili, H; Sztriha, L; Gribaa, M; Koenig, M; Dallapiccola, B; Gleeson, JG;
PUBLISHED: 2005, SOURCE: ANNALS OF NEUROLOGY, VOLUME: 57, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
29
TITLE: Inborn defects in fatty acid β-oxidation - Review [Defeitos da β-oxidação mitocondrial dos ácidos gordos - Artigo de revisão]
AUTHORS: Sarmento, A; Cardoso, ML; Barbot, C ; Martins, E ;
PUBLISHED: 2005, SOURCE: Nascer e Crescer, VOLUME: 14, ISSUE: 1
INDEXED IN: Scopus
IN MY: ORCID
30
TITLE: NOVEL MUTATIONS IN 21 PATIENTS WITH L-2-HYDROXYGLUTARIC ACIDURIA OF PORTUGUESE ORIGIN  Full Text
AUTHORS: Vilarinho, L; Cardoso, ML; Gaspar, P; Barbot, C ; Azevedo, L ; Diogo, L; Santos, M; Carrilho, I; Fineza, I; Kok, F; Chorao, R; Alegria, P; Martins, E ; Teixeira, J; Cabral C Fernandes; Verhoeven, NM; Salomons, GS; Santorelli, FM; Cabral, P; Amorim, Antonio ; Jakobs, C; ...More
PUBLISHED: 2005, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 28, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 26
IN MY: ORCID
Page 3 of 6. Total results: 58.

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