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; Ignacio P Castroviejo; Mitsutoshi Setou; Clara Barbot ; Eugen Boltshauser; Stanley F Nelson; Friedhelm Hildebrandt; Colin A Johnson; Daniel A Doherty; Enza Maria Valente; Joseph G Gleeson; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
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3
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: ORCID | ResearcherID
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TITLE: Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes  Full Text
AUTHORS: Teresa Temudo; Monica Santos; Elisabete Ramos ; Karin Dias; Jose Pedro Vieira; Ana Moreira; Eulalia Calado; Ines Carrilho; Guiomar Oliveira ; Antonio Levy; Clara Barbot ; Maria Fonseca; Alexandra Cabral; Pedro Cabral; Jose Monteiro; Luis Borges; Roseli Gomes; Graca Mira; Susana Aires Pereira; Manuela Santos; Anabela Fernandes ; Jorg T Epplen; Jorge Sequeiros ; Patricia Maciel ; ...More
PUBLISHED: 2011, SOURCE: BRAIN & DEVELOPMENT, VOLUME: 33, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 17
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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
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6
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
7
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
8
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; Majore, S; Swistun, D; Flori, E; Lalatta, F; Pantaleoni, C; Penzien, J; Grammatico, P; Dallapiccola, B; Gleeson, JG; Attie Bitach, T; Valente, EM; Ali Pacha, L; Tazir, M; Zankl, A; Leventer, R; Grattan Smith, P; Janecke, A; D'Hooghe, M; Sznajer, Y; Van Coster, R; Demerleir, L; Dias, K; Moco, C; Moreira, A; Ae Kim, C; Maegawa, G; Loncarevic, D; Mejaski Bosnjak, V; Petkovic, D; Abdel Salam, GMH; Abdel Aleem, A; Zaki, MS; Marti, I; Quijano Roy, S; Sigaudy, S; De Lonlay, P; Romano, S; Verloes, A; Touraine, R; Koenig, M; Lagier Tourenne, C; Messer, J; Collignon, P; Wolf, N; Philippi, H; Lemke, J; Dacou Voutetakis, C; Kitsiou Tzeli, S; Pons, R; Sztriha, L; Halldorsson, S; Johannsdottir, J; Ludvigsson, P; Phadke, SR; Udani, V; Stuart, B; Magee, A; Lev, D; Michelson, M; Ben Zeev, B; Di Giacomo, M; Gentile, M; Guanti, G; D'Addato, O; Papadia, F; Spano, M; Bernardi, F; Seri, M; Benedicenti, F; Stanzial, F; Borgatti, R; Accorsi, P; Battaglia, S; Fazzi, E; Giordano, L; Izzi, C; Pinelli, L; Boccone, L; Guanciali, P; Romoli, R; Bigoni, S; Ferlini, A; Andreucci, E; Donati, MA; Genuardi, M; Caridi, G; Divizia, MT; Faravelli, F; Ghiggeri, G; Pessagno, A; Amorini, M; Briguglio, M; Briuglia, S; Rigoli, L; Salpietro, C; Tortorella, G; Adami, A; Marra, G; Riva, D; Scelsa, B; Spaccini, L; Uziel, G; Coppola, G; Del Giudice, E; Vitiello, G; Laverda, AM; Ludwig, K; Permunian, A; Suppiej, A; Macaluso, C; Signorini, S; Uggetti, C; Battini, R; Di Giacomo, M; Priolo, M; Cilio, MR; D'Amico, A; Di Sabato, ML; Emma, F; Leuzzi, V; Parisi, P; Stringini, G; Zanni, G; Pollazzon, M; Renieri, A; Vascotto, M; Silengo, M; De Vescovi, R; Greco, D; Romano, C; Cazzagon, M; Simonati, A; Al Tawari, AA; Bastaki, L; Megarbane, A; Matuleviciene, A; Sabolic Avramovska, V; Said, E; De Jong, MM; Prescott, T; Stromme, P; Von Der Lippe, C; Koul, R; Rajab, A; Azam, M; Barbot, C ; Jocic Jakubi, B; Gener Querol, B; Martorell Sampol, L; Rodriguez, B; Pascual Castroviejo, I; Strozzi, S; Fluss, J; Teber M, S; Topcu, ; Anlar, B; Comu, S; Karaca, E; Kayserili, H; Yuksel, A; Akgul, M; Akcakus, M; Al Gazali, L; Nicholl, D; Woods, CG; Bennett, C; Hurst, J; Sheridan, E; Barnicoat, A; Carr, L; Hennekam, R; Lees, M; McKay, F; Yates, L; Blair, E; Bernes, S; Sanchez, H; Clark, AE; DeMarco, E; Donahue, C; Sherr, E; Hahn, J; Sanger, TD; Gallager, TE; Dobyns, WB; Daugherty, C; Krishnamoorthy, KS; Sarco, D; Walsh, CA; McKanna, T; Milisa, J; Chung, WK; De Vivo, DC; Raynes, H; Schubert, R; Seward, A; Brooks, DG; Goldstein, A; Caldwell, J; Finsecke, E; Maria, BL; Holden, K; Cruse, RP; Swoboda, KJ; Viskochil, D; ...More
PUBLISHED: 2010, SOURCE: HUMAN MUTATION, VOLUME: 31, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
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9
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; 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; ...More
PUBLISHED: 2009, SOURCE: BRAIN, VOLUME: 132, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID
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