Maria Clara Barcelos de Morais Barbot


AuthID: R-000-AQR

Confirmed Publications: 58



11
TITLE: Expanding CEP290 Mutational Spectrum in Ciliopathies  Full Text
AUTHORS: Travaglini, L; Brancati, F; Attie Bitach, T; Audollent, S; Bertini, E; Kaplan, J; Perrault, I; Iannicelli, M; Mancuso, B; Rigoli, L; Rozet, JM; Swistun, D; Tolentino, J; Dallapiccola, B; Gleeson, JG; Valente, EM; 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; Petkovic, D; Abdel Salam, GMH; Abdel Aleem, A; Zaki, MS; Marti, I; Quijano Roy, S; Sigaudy, S; De Lonlay, P; Romano, S; Touraine, R; Koenig, M; Lagier Tourenne, C; Messer, J; Collignon, P; Wolf, N; Philippi, H; Kitsiou Tzeli, S; Halldorsson, S; Johannsdottir, J; Ludvigsson, P; Phadke, SR; Udani, V; Stuart, B; Magee, A; Lev, D; Michelson, M; Ben Zeev, B; Fischetto, R; Benedicenti, F; Stanzial, F; Borgatti, R; Accorsi, P; Battaglia, S; Fazzi, E; Giordano, L; Pinelli, L; Boccone, L; Bigoni, S; Ferlini, A; Donati, MA; Caridi, G; Divizia, MT; Faravelli, F; Ghiggeri, G; Pessagno, A; Briguglio, M; Briuglia, S; Salpietro, CD; Tortorella, G; Adami, A; Castorina, P; Lalatta, F; Marra, G; Riva, D; Scelsa, B; Spaccini, L; Uziel, G; Del Giudice, E; Laverda, AM; Ludwig, K; Permunian, A; Suppiej, A; Signorini, S; Uggetti, C; Battini, R; Di Giacomo, M; Cilio, MR; Di Sabato, ML; Leuzzi, V; Parisi, P; Pollazzon, M; Silengo, M; De Vescovi, R; Greco, D; Romano, C; Cazzagon, M; Simonati, A; Al Tawari, AA; Bastaki, L; Megarbane, A; Sabolic Avramovska, V; De Jong, MM; Stromme, P; Koul, R; Rajab, A; Azam, M; Barbot, C ; Martorell Sampol, L; Rodriguez, B; Pascual Castroviejo, I; Teber, S; Anlar, B; Comu, S; Karaca, E; Kayserili, H; Yuksel, A; Akcakus, M; Al Gazali, L; Sztriha, L; Nicholl, D; Woods, CG; Bennett, C; Hurst, J; Sheridan, E; Barnicoat, A; Hennekam, R; Lees, M; 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: 2009, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 149A, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID
12
TITLE: Infantile neuroaxonal dystrophy: What's most important for the diagnosis?  Full Text
AUTHORS: Ines Carrilho; Manuela Santos; Antonio Guimaraes; Joao Teixeira; Rui Chorao; Marcia Martins; Cristina Dias; Allison Gregory; Shawn Westaway; Thuy Nguyen; Susan Hayflick; Clara Barbot ;
PUBLISHED: 2008, SOURCE: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, VOLUME: 12, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 30
IN MY: ORCID | ResearcherID
13
TITLE: LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients  Full Text
AUTHORS: Oliveira, J; Santos, R; Soares Silva, I ; Jorge, P; Vieira, E; Oliveira, ME; Moreira, A; Coelho, T; Ferreira, JC; Fonseca, MJ; Barbosa, C; Prats, J; Ariztegui, ML; Martins, ML; Moreno, T; Heinimann, K; Barbot, C ; Pascual Pascual, SI; Cabral, A; Fineza, I; Santos, M; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ; ...More
PUBLISHED: 2008, SOURCE: CLINICAL GENETICS, VOLUME: 74, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 41
IN MY: ORCID | ResearcherID
14
TITLE: Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type  Full Text
AUTHORS: Temudo, T; Ramos, E ; Dias, K; Barbot, C ; Vieira, JP; Moreira, A; Calado, E; Carrilho, I; Oliveira, G ; Levy, A; Fonseca, M; Cabral, A; Cabral, P; Monteiro, JP; Borges, L; Gomes, R; Santos, M; Sequeiros, J ; Maciel, P ;
PUBLISHED: 2008, SOURCE: MOVEMENT DISORDERS, VOLUME: 23, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID
15
TITLE: Neurodegeneration associated with genetic defects in phospholipase A(2)
AUTHORS: 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; Levinson, B; Dias, C; Barbot, C ; Carrilho, I; Santos, M; Malik, I; Gitschier, J; Hayflick, SJ; ...More
PUBLISHED: 2008, SOURCE: NEUROLOGY, VOLUME: 71, ISSUE: 18
INDEXED IN: Scopus WOS CrossRef
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16
TITLE: Outcome of three cases of untreated maternal glutaric aciduria type I  Full Text
AUTHORS: Paula Garcia; Esmeralda Martins ; Luisa Diogo; Hugo Rocha; Ana Marcao; Eurico Gaspar; Margarida Almeida; Catarina Vaz; Isabel Soares; Clara Barbot ; Laura Vilarinho;
PUBLISHED: 2008, SOURCE: EUROPEAN JOURNAL OF PEDIATRICS, VOLUME: 167, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
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17
TITLE: RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders  Full Text
AUTHORS: Brancati, F; Travaglini, L; Zablocka, D; Boltshauser, E; Accorsi, P; Montagna, G; Silhavy, JL; Barrano, G; Bertini, E; Emma, F; Rigoli, L; Leventer, R; Grattan Smith, P; Janecke, A; D'Hooghe, M; Van Coster, R; Dias, K; Moco, C; Moreira, A; Kim, CA; Maegawa, G; Abdel Salam, GMH; Abdel Aleem, A; Zaki, MS; Marti, I; Quijano Roy, S; de Lonlay, P; Romano, S; Verloes, A; Touraine, R; Koenig, M; Lagier Tourenne, C; Messer, J; Philippi, H; Tzeli, SK; Halldorsson, S; Johannsdottir, J; Ludvigsson, P; Phadke, SR; Stuart, B; Magee, A; Lev, D; Michelson, M; Ben Zeev, B; Fischetto, R; Gentile, M; Battaglia, S; Giordano, L; Pinelli, L; Boccone, L; Ruggieri, M; Bigoni, S; Ferlini, A; Donati, MA; Procopio, E; Caridi, G; Faravelli, F; Ghiggeri, G; Briuglia, S; Salpietro, CD; Tortorella, G; D'Arrigo, S; Pantaleoni, C; Riva, D; Uziel, G; Laverda, AM; Permunian, A; Bova, S; Battini, R; Cilio, MR; Di Sabato, M; Leuzzi, V; Parisi, P; Simonati, A; Al Tawari, AA; Bastaki, L; Ahmad, ; de Jong, MM; Koul, R; Rajab, A; Azam, M; Barbot, C ; Rodriguez, B; Pascual Castroviejo, I; Kayserili, H; Comu, S; Akcakus, M; Al Gazali, L; Sztriha, L; Nicholl, D; Woods, CG; Bennett, C; Hurst, J; Hennekam, R; Lees, M; Bernes, S; Sanchez, H; Clark, AE; DeMarco, E; DeMarco, E; Donahue, C; Sherr, E; 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; Dallapiccola, B; Gleeson, JG; Valente, EM; ...More
PUBLISHED: 2008, SOURCE: CLINICAL GENETICS, VOLUME: 74, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
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18
TITLE: Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type  Full Text
AUTHORS: Celia Nogueira; Chiara Aiello; Roberto Cerone; Esmeralda Martins ; Ubaldo Caruso; Isabella Moroni; Cristiano Rizzo; Luisa Diogo; Elisa Leao; Fernando Kok; Federica Deodato; Maria Cristina Schiaffino; Sara Boenzi; Olivier Danhaive; Clara Barbot ; Silvia Sequeira; Mattia Locatelli; Filippo M Santorelli; Graziella Uziel; Laura Vilarinho; Carlo Dionisi Vici; ...More
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 93, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
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19
TITLE: CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
AUTHORS: Brancati, F; Barrano, G; Silhavy, JL; Marsh, SE; Travaglini, L; Bielas, SL; Amorini, M; Zablocka, D; Kayserili, H; Al Gazali, L; Bertini, E; Boltshauser, E; D'Hooghe, M; Fazzi, E; Fenerci, EY; Hennekam, RCM; Kiss, A; Lees, MM; Marco, E; Phadke, SR; Rigoli, L; Romano, S; Salpietro, CD; Sherr, EH; Signorini, S; Stromme, P; Stuart, B; Sztriha, L; Viskochil, DH; Yuksel, A; Dallapiccola, B; Valente, EM; Gleeson, JG; Grattan Smith, P; Leventer, R; Janecke, A; Van Coster, R; Dias, K; Moco, C; Moreira, A; Chong, AK; Maegawa, G; Abdel Salam, GMH; Abdel Aleem, A; Zaki, MS; Marti, I; Quijano Roy, S; De Lonlay, P; Verloes, A; Touraine, R; Koenig, M; Lagier Tourenne, C; Messer, J; Philippi, H; Tzeli, SK; Halldorsson, S; Johannsdottir, J; Ludvigsson, P; Magee, A; Lev, D; Michelson, M; Ben Zeev, B; Fischetto, R; Gentile, M; Battaglia, S; Giordano, L; Boccone, L; Ruggieri, M; Bigoni, S; Ferlini, A; Donati, MA; Procopio, E; Caridi, G; Faravelli, F; Ghiggeri, G; Briuglia, S; Tortorella, G; D'Arrigo, S; Pantaleoni, C; Riva, D; Uziel, G; Lavercla, AM; Permunian, A; Bova, S; Battini, R; Cilio, MR; Di Sabato, M; Emma, F; Leuzzi, V; Parisi, P; Simonati, A; Al Tawari, AA; Bastaki, L; Aqeel, A; De Jong, MM; Koul, R; Rajab, A; Azam, M; Barbot, C ; Rodriguez, B; Pascual Castroviejo, I; Comu, S; Akcakus, M; Nicholl, D; Woods, CG; Bennett, C; Hurst, J; Walsh, CA; Bernes, S; Sanchez, H; Clark, AE; Donahue, C; Hahn, J; Sanger, TD; Gallager, TE; Dobyns, WB; Daugherty, C; Krishnamoorthy, KS; Sarco, D; 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; ...More
PUBLISHED: 2007, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 81, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
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20
TITLE: Identification of a new mtDNA mutation (14724G > A) associated with mitochondrial leukoencephalopathy  Full Text
AUTHORS: Cristina Pereira; Celia Nogueira; Clara Barbot ; Alessandra Tessa; Carla Soares; Fabiana Fattori; Antonio Guimaraes; Filippo M Santorelli; Laura Vilarinho;
PUBLISHED: 2007, SOURCE: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, VOLUME: 354, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 9
IN MY: ORCID | ResearcherID
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