Maria Clara Barcelos de Morais Barbot


AuthID: R-000-AQR

Confirmed Publications: 58



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TITLE: CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium  Full Text
AUTHORS: Ji Eun Lee; Jennifer L Silhavy; Maha S Zaki; Jana Schroth; Stephanie L Bielas; Sarah E Marsh; Jesus Olvera; Francesco Brancati; Miriam Iannicelli; Koji Ikegami; Andrew M Schlossman; Barry Merriman; Tania Attie Bitach; Clare V Logan; Ian A Glass; Andrew Cluckey; Carrie M Louie; Jeong Ho Lee; Hilary R Raynes; Isabelle Rapin; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID
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TITLE: Sturge-Weber syndrome -clinical and neuroimaging variability
AUTHORS: Rios, M; Barbot, C ; Pinto, PS; Salicio, L; Santos, M; Carrilho, I; Temudo, T;
PUBLISHED: 2012, SOURCE: ANALES DE PEDIATRIA, VOLUME: 77, ISSUE: 6
INDEXED IN: Scopus WOS
IN MY: ResearcherID
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TITLE: Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes  Full Text
AUTHORS: 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; Pereira, SA; Santos, M; ...More
PUBLISHED: 2011, SOURCE: BRAIN & DEVELOPMENT, VOLUME: 33, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID
5
TITLE: Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases  Full Text
AUTHORS: Esmeralda Martins ; Luis Cardoso, ML; Esmeralda Rodrigues; Clara Barbot ; Altina Ramos; Michael J Bennett; Elisa Leao Teles; Laura Vilarinho;
PUBLISHED: 2011, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 34, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID
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TITLE: CEREBELLAR HYPOPLASIAS  Full Text
AUTHORS: Marta Maia Safronova; Clara Barbot ; Jorge Resende Pereira;
PUBLISHED: 2010, SOURCE: ACTA MEDICA PORTUGUESA, VOLUME: 23, ISSUE: 5
INDEXED IN: WOS
IN MY: ResearcherID
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TITLE: Cerebellar hypoplasias [Hipoplasias cerebelosas]
AUTHORS: Safronova, MM; Barbot, C ; Resende Pereira, J;
PUBLISHED: 2010, SOURCE: Acta Medica Portuguesa, VOLUME: 23, ISSUE: 5
INDEXED IN: Scopus
IN MY: ORCID
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TITLE: Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies  Full Text
AUTHORS: Iannicelli, M; Brancati, F; Mougou Zerelli, S; Mazzotta, A; Thomas, S; Elkhartoufi, N; Travaglini, L; Gomes, C; Ardissino, GL; Bertini, E; Boltshauser, E; Castorina, P; D'Arrigo, S; Fischetto, R; Leroy, B; Loget, P; Bonniere, M; Starck, L; Tantau, J; Gentilin, B; ...More
PUBLISHED: 2010, SOURCE: HUMAN MUTATION, VOLUME: 31, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID
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TITLE: Variant Creutzfeldt-Jakob disease: the first confirmed case from Portugal shows early onset, long duration and unusual pathology
AUTHORS: Barbot, C ; Castro, L; Oliveira, C; Carpenter, S;
PUBLISHED: 2010, SOURCE: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, VOLUME: 81, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID | ResearcherID
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TITLE: Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients  Full Text
AUTHORS: Anheim, M; Monga, B; Fleury, M; Charles, P; Barbot, C ; Salih, M; Delaunoy, JP; Fritsch, M; Arning, L; Synofzik, M; Schoels, L; Sequeiros, J ; Goizet, C; Marelli, C; Le Ber, I; Koht, J; Gazulla, J; De Bleecker, J; Mukhtar, M; Drouot, N; ...More
PUBLISHED: 2009, SOURCE: BRAIN, VOLUME: 132, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID
Page 1 of 6. Total results: 58.

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