Jorge António Gonçalves Pinto Basto
AuthID: R-000-7NH
1
TITLE: Genetic analysis of Portuguese patients with Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS)
AUTHORS: Lopes, Ana; Malaquias, Maria Joao; Braz, Luis ; Damasio, Joana; Garcez, Daniela; Marques, Bravo; Caetano, Andre; Sousa, Ana Paula; Aires, Ana; Velon, Ana Graca; Sousa, Ana Luisa; Alves, Cristina; Costa, Cristina; Coelho, Cristina Rosado; Brandao, Eva; Nadais, Goreti; Guimaraes, Joana; Mendes, Michel; Vila Cha, Nuno; Abreu, Pedro; ...More
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Lopes, Ana; Malaquias, Maria Joao; Braz, Luis ; Damasio, Joana; Garcez, Daniela; Marques, Bravo; Caetano, Andre; Sousa, Ana Paula; Aires, Ana; Velon, Ana Graca; Sousa, Ana Luisa; Alves, Cristina; Costa, Cristina; Coelho, Cristina Rosado; Brandao, Eva; Nadais, Goreti; Guimaraes, Joana; Mendes, Michel; Vila Cha, Nuno; Abreu, Pedro; ...More
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
2
TITLE: Hereditary spastic paraplegia type 11 and 22q11 duplication syndrome in a single family Full Text
AUTHORS: Martins, J; Martins, R; Silva, J; Alonso, I; Pinto Basto, JP; Rendeiro, P; Leal Loureiro, JL; Magalhaes, M;
PUBLISHED: 2017, SOURCE: 3rd Congress of the European-Academy-of-Neurology in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 24
AUTHORS: Martins, J; Martins, R; Silva, J; Alonso, I; Pinto Basto, JP; Rendeiro, P; Leal Loureiro, JL; Magalhaes, M;
PUBLISHED: 2017, SOURCE: 3rd Congress of the European-Academy-of-Neurology in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 24
INDEXED IN: WOS
3
TITLE: Probable Person-to-Person Transmission of Legionnaires' Disease
AUTHORS: Ana M Correia; Joana S Ferreira; Vítor Borges; Alexandra Nunes; Bernardo Gomes; Rui Capucho; Jorge Gonçalves; Delfina M Antunes; Sónia Almeida; Ana Mendes; Marta Guerreiro; Daniel A Sampaio; Luís Vieira; Jorge Machado; Maria J Simões; Paulo Gonçalves; João P Gomes;
PUBLISHED: 2016, SOURCE: NEW ENGLAND JOURNAL OF MEDICINE, VOLUME: 374, ISSUE: 5
AUTHORS: Ana M Correia; Joana S Ferreira; Vítor Borges; Alexandra Nunes; Bernardo Gomes; Rui Capucho; Jorge Gonçalves; Delfina M Antunes; Sónia Almeida; Ana Mendes; Marta Guerreiro; Daniel A Sampaio; Luís Vieira; Jorge Machado; Maria J Simões; Paulo Gonçalves; João P Gomes;
PUBLISHED: 2016, SOURCE: NEW ENGLAND JOURNAL OF MEDICINE, VOLUME: 374, ISSUE: 5
4
TITLE: Elevation of gamma-glutamyl transferase in adult: Should we think about progressive familiar intrahepatic cholestasis? Full Text
AUTHORS: Hugo M Oliveira; Claudia Pereira; Ermelinda Santos Silva; Jorge Pinto Basto; Helena Pessegueiro Miranda;
PUBLISHED: 2016, SOURCE: DIGESTIVE AND LIVER DISEASE, VOLUME: 48, ISSUE: 2
AUTHORS: Hugo M Oliveira; Claudia Pereira; Ermelinda Santos Silva; Jorge Pinto Basto; Helena Pessegueiro Miranda;
PUBLISHED: 2016, SOURCE: DIGESTIVE AND LIVER DISEASE, VOLUME: 48, ISSUE: 2
5
TITLE: A Distinct Phenotype in a Novel ATP1A3 Mutation: Connecting the Two Ends of a Spectrum
AUTHORS: Pedro Pereira; Andreia Guerreiro; Maria Fonseca; Cristina Halpern; Jorge Pinto Basto; Jose P Monteiro;
PUBLISHED: 2016, SOURCE: MOVEMENT DISORDERS CLINICAL PRACTICE, VOLUME: 3, ISSUE: 4
AUTHORS: Pedro Pereira; Andreia Guerreiro; Maria Fonseca; Cristina Halpern; Jorge Pinto Basto; Jose P Monteiro;
PUBLISHED: 2016, SOURCE: MOVEMENT DISORDERS CLINICAL PRACTICE, VOLUME: 3, ISSUE: 4
INDEXED IN: WOS CrossRef
6
TITLE: PARK2 presenting as a disabling peripheral axonal neuropathy Full Text
AUTHORS: Joana Domingos; Teresa Coelho; Ricardo Taipa; Jorge P Basto; Manuel Melo Pires; Marina J Magalhes;
PUBLISHED: 2015, SOURCE: NEUROLOGICAL SCIENCES, VOLUME: 36, ISSUE: 2
AUTHORS: Joana Domingos; Teresa Coelho; Ricardo Taipa; Jorge P Basto; Manuel Melo Pires; Marina J Magalhes;
PUBLISHED: 2015, SOURCE: NEUROLOGICAL SCIENCES, VOLUME: 36, ISSUE: 2
7
TITLE: Intergenerational instability in Huntington disease: Extreme repeat changes among 134 transmissions. Letters: New Observation Full Text
AUTHORS: Eliana Marisa Ramos; Joana Cerqueira; Carolina Lemos ; Jorge Pinto Basto; Isabel Alonso ; Jorge Sequeiros ;
PUBLISHED: 2012, SOURCE: MOVEMENT DISORDERS, VOLUME: 27, ISSUE: 4
AUTHORS: Eliana Marisa Ramos; Joana Cerqueira; Carolina Lemos ; Jorge Pinto Basto; Isabel Alonso ; Jorge Sequeiros ;
PUBLISHED: 2012, SOURCE: MOVEMENT DISORDERS, VOLUME: 27, ISSUE: 4
8
TITLE: Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations
AUTHORS: Maria Conceicao Pereira; Jose Leal Loureiro ; Jorge Pinto Basto; Eva Brandao; Ana Margarida Lopes; Georgina Neves; Pureza Dias; Ruth Geraldes; Isabel Pavao Martins ; Vitor Tedim Cruz ; Erik Jan Kamsteeg; Han G Brunner; Paula Coutinho ; Jorge Sequeiros ; Isabel Alonso ;
PUBLISHED: 2012, SOURCE: GENETICS IN MEDICINE, VOLUME: 14, ISSUE: 1
AUTHORS: Maria Conceicao Pereira; Jose Leal Loureiro ; Jorge Pinto Basto; Eva Brandao; Ana Margarida Lopes; Georgina Neves; Pureza Dias; Ruth Geraldes; Isabel Pavao Martins ; Vitor Tedim Cruz ; Erik Jan Kamsteeg; Han G Brunner; Paula Coutinho ; Jorge Sequeiros ; Isabel Alonso ;
PUBLISHED: 2012, SOURCE: GENETICS IN MEDICINE, VOLUME: 14, ISSUE: 1
9
TITLE: Prostate cancer in Cowden syndrome: somatic loss and germline mutation of the PTEN gene Full Text
AUTHORS: Mafalda Barbosa; Martinha Henrique; Jorge Pinto Basto; Kathleen Claes; Gabriela Soares;
PUBLISHED: 2011, SOURCE: CANCER GENETICS, VOLUME: 204, ISSUE: 4
AUTHORS: Mafalda Barbosa; Martinha Henrique; Jorge Pinto Basto; Kathleen Claes; Gabriela Soares;
PUBLISHED: 2011, SOURCE: CANCER GENETICS, VOLUME: 204, ISSUE: 4
10
TITLE: Sensory neuronopathy in ataxia with oculomotor apraxia type 2 Full Text
AUTHORS: Jose Gazulla; Isabel Benavente; Isabel P Perez Lopez Fraile; Carlos Tordesillas; Pedro Modrego; Isabel Alonso ; Jorge Pinto Basto;
PUBLISHED: 2010, SOURCE: JOURNAL OF THE NEUROLOGICAL SCIENCES, VOLUME: 298, ISSUE: 1-2
AUTHORS: Jose Gazulla; Isabel Benavente; Isabel P Perez Lopez Fraile; Carlos Tordesillas; Pedro Modrego; Isabel Alonso ; Jorge Pinto Basto;
PUBLISHED: 2010, SOURCE: JOURNAL OF THE NEUROLOGICAL SCIENCES, VOLUME: 298, ISSUE: 1-2