101
TITLE: Private dysferlin exon skipping mutation (c.5492G > A) with a founder effect reveals further alternative splicing involving exons 49-51  Full Text
AUTHORS: Rosario Santos; Jorge Oliveira; Emilia Vieira; Teresa Coelho; Antonio Leite Carneiro; Teresinha Evangelista; Cristina Dias; Ana Fortuna; Argemiro Geraldo; Luis Negrao; Antonio Guimaraes; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ;
PUBLISHED: 2010, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 55, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 7
102
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
103
TITLE: Congenital myasthenia syndromes - Eight northern Portuguese patients  Full Text
AUTHORS: Santos, MMA; Coelho, TPM; Lima, JML; Mihaylova, V; Muller, J; Lochmuller, H;
PUBLISHED: 2008, SOURCE: 13th International Congress of the World-Muscle-Society in NEUROMUSCULAR DISORDERS, VOLUME: 18, ISSUE: 9-10
INDEXED IN: WOS CrossRef
104
TITLE: Founder effect of a new DYSF exon 48-skipping mutation detected in seven Portuguese dysferlinopathy patients  Full Text
AUTHORS: Santos, R; Oliveira, J; Vieira, E; Coelho, T; Carneiro Leite, A; Evangelista, T; Fortuna, A; Geraldo, A; Luis, N; Guimaraes, A;
PUBLISHED: 2007, SOURCE: 12th International Congress of the World-Muscle-Society in NEUROMUSCULAR DISORDERS, VOLUME: 17, ISSUE: 9-10
INDEXED IN: WOS CrossRef
105
TITLE: Ambulatory electrocardiographic monitoring in type 1 myotonic dystrophy [Monitorização electrocardiográfica ambulatória na distrofia miotónica do tipo 1]
AUTHORS: Sa, MI; Cabral, S; Costa, PD; Coelho, T; Freitas, M; Gomes, JL;
PUBLISHED: 2007, SOURCE: Revista Portuguesa de Cardiologia, VOLUME: 26, ISSUE: 7-8
INDEXED IN: Scopus
106
TITLE: Cardiac involvement in type 1 myotonic dystrophy [Envolvimento cardíaco na distrofia miotónica tipo 1 [56]]
AUTHORS: Sa, MI; Cabral, S; Costa, PD; Coelho, T; Freitas, M; Torres, S; Gomes, JL;
PUBLISHED: 2007, SOURCE: Revista Portuguesa de Cardiologia, VOLUME: 26, ISSUE: 9
INDEXED IN: Scopus
107
TITLE: Genetic epidemiology of familial amyloid polyneuropathy in Portugal  Full Text
AUTHORS: Coelho, T; Silva, AM; Maia, L; Sousa, A;
PUBLISHED: 2006, SOURCE: 11th International Congress of the World-Muscle-Society in NEUROMUSCULAR DISORDERS, VOLUME: 16, ISSUE: 9-10
INDEXED IN: WOS CrossRef
108
TITLE: Three novel mutations of the myelin Po gene (MPZ) in Portuguese families with CMT1B  Full Text
AUTHORS: Coelho, T; Santos, M; Cerqueira, R; Pires, MM; Lameiras, L; Gabriel, H; Fernandes, AR ; Tavares, P; Guimaraes, A;
PUBLISHED: 2006, SOURCE: 11th International Congress of the World-Muscle-Society in NEUROMUSCULAR DISORDERS, VOLUME: 16, ISSUE: 9-10
INDEXED IN: WOS CrossRef
109
TITLE: Hereditary neuropathies in a pediatric clinic  Full Text
AUTHORS: Santos, MA; Coelho, T; Machado, A; Cerqueira, R; Fernandes, A ; Tavares, P;
PUBLISHED: 2006, SOURCE: 11th International Congress of the World-Muscle-Society in NEUROMUSCULAR DISORDERS, VOLUME: 16, ISSUE: 9-10
INDEXED IN: WOS CrossRef
110
TITLE: Simultaneous pancreas-kidney transplantation: Five-year results from a single center  Full Text
AUTHORS: Martins, L; Pedroso, S; Henriques, AC; Dias, L; Sarmento, AM; Seca, R; Oliveira, F; Dores, J; Lhamas, A; Coelho, T; Ribeiro, A; Esteves, S; Pereira, R; Almeida, R; Amil, M; Cabrita, A; Teixeira, M;
PUBLISHED: 2006, SOURCE: 10th International Symposium on Small Bowel Transplantation in TRANSPLANTATION PROCEEDINGS, VOLUME: 38, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
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