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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
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
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
INDEXED IN: Scopus WOS CrossRef: 63
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
INDEXED IN: WOS CrossRef
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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
INDEXED IN: Scopus WOS CrossRef
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
INDEXED IN: Scopus WOS CrossRef
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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
INDEXED IN: Scopus WOS CrossRef
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