ProfileOfResearchers

TITLE: The identification of multiple thrombophilic risk factors in an infant with cerebrovascular accident
AUTHORS: Neves, J; Costa, E ; Branca, R; Carrilho, I; Barbot, J; Barbot, C ;
PUBLISHED: 2005, SOURCE: REVISTA DE NEUROLOGIA, VOLUME: 40, ISSUE: 8

INDEXED IN:

Scopus

WOS

IN MY:

ORCID |

ResearcherID

TITLE: Galactosemia: The genotype and phenotype of seven patients
AUTHORS: Martins, E ; Teixeira, J; Cardoso, ML; Lima, MR; Briones Godino, P; Barbot, C ;
PUBLISHED: 2004, SOURCE: REVISTA DE NEUROLOGIA, VOLUME: 38, ISSUE: 12

INDEXED IN:

Scopus

WOS

IN MY:

ResearcherID

TITLE: Homozygosity mapping of a third Joubert syndrome locus to 6q23
AUTHORS: Lagier Tourenne, C; Boltshauser, E; Breivik, N; Gribaa, M; Betard, C; Barbot, C ; Koenig, M;
PUBLISHED: 2004, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 41, ISSUE: 4

INDEXED IN:

Scopus

WOS

IN MY:

ORCID |

ResearcherID

TITLE: Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2 Full Text
AUTHORS: Moreira, MC; Klur, S; Watanabe, M; Nemeth, AH; Le Ber, I; Moniz, JC; Tranchant, C; Aubourg, P; Tazir, M; Schols, L; Pandolfo, M; Schulz, JB; Pouget, J; Calvas, P; Shizuka Ikeda, M; Shoji, M; Tanaka, M; Izatt, L; Shaw, CE; M'Zahem, A; Dunne, E; Bomont, P; Benhassine, T; Bouslam, N; Stevanin, G; Brice, A; Guimaraes, J; Mendonca, P; Barbot, C ; Coutinho, P ; Sequeiros, J ; Durr, A; Warter, JM; Koenig, M; ...More
PUBLISHED: 2004, SOURCE: NATURE GENETICS, VOLUME: 36, ISSUE: 3

INDEXED IN:

Scopus

WOS

CrossRef

IN MY:

ORCID |

ResearcherID

TITLE: Cytomegalovirus congenital infection: Retrospective diagnosis in children with neurological disturbances [Infecção congénita por citomegalovirus: Diagnóstico retrospectivo em crianças com quadros neurológicos]
AUTHORS: Sa, C; Ma Do Cu Mota; Barbot, C ; Santos, M; Paixao, P; Reis Lima, M; Carrilho, I;
PUBLISHED: 2003, SOURCE: Nascer e Crescer, VOLUME: 12, ISSUE: 2

INDEXED IN:

Scopus

IN MY:

ORCID

TITLE: Inherited and acquired risk factors and their combined effects in pediatric stroke Full Text
AUTHORS: Barreirinho, S; Ferro, A; Santos, M; Costa, E ; Pinto Basto, J; Sousa, A ; Sequeiros, J ; Maciel, P ; Barbot, C ; Barbot, J;
PUBLISHED: 2003, SOURCE: PEDIATRIC NEUROLOGY, VOLUME: 28, ISSUE: 2

INDEXED IN:

Scopus

WOS

CrossRef: 56

IN MY:

ORCID |

ResearcherID

TITLE: Ocular apraxia in recessive ataxia [1] (multiple letters)
AUTHORS: Koeppen, AH; Coutinho, P ; Barbot, C ;
PUBLISHED: 2002, SOURCE: Archives of Neurology, VOLUME: 59, ISSUE: 5

INDEXED IN:

Scopus

IN MY:

ORCID

TITLE: Trinucleotide repeats in 202 families with ataxia - A small expanded (CAG)(n) allele at the SCA17 locus. A Small Expanded (CAG) n Allele at the SCA17 Locus
AUTHORS: Silveira, I ; Miranda, C; Guimaraes, L ; Moreira, MC; Alonso, I ; Mendonca, P; Ferro, A; Pinto Basto, J; Coelho, J; Ferreirinha, F ; Poirier, J; Parreira, E; Vale, J; Januario, C; Barbot, C ; Tuna, A; Barros, José ; Koide, R; Tsuji, S; Holmes, SE; Margolis, RL; Jardim, L; Pandolfo, M; Coutinho, P ; Sequeiros, J ; ...More
PUBLISHED: 2002, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 59, ISSUE: 4

INDEXED IN:

Scopus

WOS

CrossRef: 126

IN MY:

ORCID |

ResearcherID

TITLE: Clinical and molecular findings in four new patients harbouring the mtDNA 8993T > C mutation Full Text
AUTHORS: Vilarinho, L; Barbot, C ; Carrozzo, R; Calado, E; Tessa, A; Dionisi Vici, C; Guimaraes, A; Santorelli, FM;
PUBLISHED: 2001, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 24, ISSUE: 8

INDEXED IN:

Scopus

WOS

CrossRef: 7

IN MY:

ORCID |

ResearcherID