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Editorial: Photodynamic Therapy as an Important Tool for Biological Breakthroughs-Photoactive Photosensitizers Applied from Cancer to Microbial TargetsLourenço, Leandro M O ; Tomé, Augusto C ; Tomé, João P CInternational journal of molecular sciences, 2023-12, Vol.25 (1), p.330 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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Material Type: Artigo
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The neurosphere assay: an effective in vitro technique to study neural stem cellsSoares, Rita ; Ribeiro, Filipa ; Lourenço, Diogo ; Rodrigues, Rui ; Moreira, João ; Sebastião, Ana ; Morais, Vanessa ; Xapelli, SaraNeural regeneration research, 2021-11, Vol.16 (11), p.2229-2231 [Periódico revisado por pares]India: Wolters Kluwer India Pvt. LtdTexto completo disponível |
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Material Type: Artigo
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Long-term weight loss after diet and exercise: a systematic reviewCURIONI, C. C ; LOURENCO, P. MInternational Journal of Obesity, 2005-10, Vol.29 (10), p.1168-1174 [Periódico revisado por pares]Basingstoke: Nature PublishingTexto completo disponível |
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Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signalingRice, Gillian I ; Del Toro Duany, Yoandris ; Jenkinson, Emma M ; Forte, Gabriella Ma ; Anderson, Beverley H ; Ariaudo, Giada ; Bader-Meunier, Brigitte ; Baildam, Eileen M ; Battini, Roberta ; Beresford, Michael W ; Casarano, Manuela ; Chouchane, Mondher ; Cimaz, Rolando ; Collins, Abigail E ; Cordeiro, Nuno Jv ; Dale, Russell C ; Davidson, Joyce E ; De Waele, Liesbeth ; Desguerre, Isabelle ; Faivre, Laurence ; Fazzi, Elisa ; Isidor, Bertrand ; Lagae, Lieven ; Latchman, Andrew R ; Lebon, Pierre ; Li, Chumei ; Livingston, John H ; Lourenço, Charles M ; Mancardi, Maria Margherita ; Masurel-Paulet, Alice ; McInnes, Iain B ; Menezes, Manoj P ; Mignot, Cyril ; O'Sullivan, James ; Orcesi, Simona ; Picco, Paolo P ; Riva, Enrica ; Robinson, Robert A ; Rodriguez, Diana ; Salvatici, Elisabetta ; Scott, Christiaan ; Szybowska, Marta ; Tolmie, John L ; Vanderver, Adeline ; Vanhulle, Catherine ; Vieira, Jose Pedro ; Webb, Kate ; Whitney, Robyn N ; Williams, Simon G ; Wolfe, Lynne A ; Zuberi, Sameer M ; Hur, Sun ; Crow, Yanick JNature genetics, 2014-05, Vol.46 (5), p.503-509 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humansBayat, Vafa ; Thiffault, Isabelle ; Jaiswal, Manish ; Tétreault, Martine ; Donti, Taraka ; Sasarman, Florin ; Bernard, Geneviève ; Demers-Lamarche, Julie ; Dicaire, Marie-Josée ; Mathieu, Jean ; Vanasse, Michel ; Bouchard, Jean-Pierre ; Rioux, Marie-France ; Lourenco, Charles M ; Li, Zhihong ; Haueter, Claire ; Shoubridge, Eric A ; Graham, Brett H ; Brais, Bernard ; Bellen, Hugo J Green, Douglas R.PLoS biology, 2012-03, Vol.10 (3), p.e1001288-e1001288 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)Pineda, Mercedes ; Mengel, Eugen ; Jahnová, Helena ; Héron, Bénédicte ; Imrie, Jackie ; Lourenço, Charles M ; van der Linden, Vanessa ; Karimzadeh, Parvaneh ; Valayannopoulos, Vassili ; Jesina, Pavel ; Torres, Juan V ; Kolb, Stefan ABMC pediatrics, 2016-07, Vol.16 (1), p.107-107, Article 107 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case reportAndrade, Isadora ; Ribeiro, River ; Carneiro, Zumira A ; Giugliani, Roberto ; Pereira, Catarina ; Cozma, Claudia ; Grinberg, Daniel ; Vilageliu, Lluïsa ; Lourenco, Charles MJournal of medical case reports, 2022-01, Vol.16 (1), p.46-46, Article 46 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense MutationsFagundes, Gustavo F C ; Petenuci, Janaina ; Lourenco, Jr, Delmar M ; Trarbach, Ericka B ; Pereira, Maria Adelaide A ; Correa D'Eur, Joya Emilie ; Hoff, Ana O ; Lerario, Antonio M ; Zerbini, Maria Claudia N ; Siqueira, Sheila ; Yamauchi, Fernando ; Srougi, Victor ; Tanno, Fabio Y ; Chambo, Jose Luis ; Latronico, Ana Claudia ; Mendonca, Berenice B ; Fragoso, Maria Candida B V ; Almeida, Madson QJournal of the Endocrine Society, 2019-09, Vol.3 (9), p.1682-1692 [Periódico revisado por pares]United States: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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An immunohistochemical study on the expression of sex steroid receptors, Ki-67 and cytokeratins 7 and 20 in feline endometrial adenocarcinomasSaraiva, Ana Laura ; Payan-Carreira, Rita ; Gärtner, Fátima ; Fortuna da Cunha, Marta R ; Rêma, Alexandra ; Faria, Fátima ; Lourenço, Lígia M ; Pires, Maria Dos AnjosBMC veterinary research, 2015-08, Vol.11 (1), p.204-204, Article 204 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signatureRICE, Gillian I ; KASHER, Paul R ; JENKINSON, Emma M ; BACINO, Carlos A ; BATTINI, Roberta ; BERTINI, Enrico ; BROGAN, Paul A ; BRUETON, Louise A ; CARPANELLI, Marialuisa ; DE LAET, Corinne ; DE LONLAY, Pascale ; DEL TORO, Mireia ; FORTE, Gabriella M. A ; DESGUERRE, Isabelle ; FAZZI, Elisa ; GARCIA-CAZORLA, Angels ; HEIBERG, Arvid ; KAWAGUCHI, Masakazu ; KUMAR, Ram ; S-M LIN, Jean-Pierre ; LOURENCO, Charles M ; MALE, Alison M ; MARQUES, Wilson ; MANNION, Niamh M ; MIGNOT, Cyril ; OLIVIERI, Ivana ; ORCESI, Simona ; PRABHAKAR, Prab ; RASMUSSEN, Magnhild ; ROBINSON, Robert A ; ROZENBERG, Flore ; SCHMIDT, Johanna L ; STEINDL, Katharina ; TAN, Tiong Y ; GREENWOOD, Sam M ; DER MERWE, William G.van ; VANDERVER, Adeline ; VASSALLO, Grace ; WAKELING, Emma L ; WASSMER, Evangeline ; WHITTAKER, Elizabeth ; LIVINGSTON, John H ; LEBON, Pierre ; SUZUKI, Tamio ; MCLAUGHLIN, Paul J ; SZYNKIEWICZ, Marcin ; KEEGAN, Liam P ; O'CONNELL, Mary A ; LOVELL, Simon C ; CROW, Yanick J ; DICKERSON, Jonathan E ; BHASKAR, Sanjeev S ; ZAMPINI, Massimiliano ; BRIGGS, Tracy ANature genetics, 2012-11, Vol.44 (11), p.1243-1248 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |