81
TITLE: Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis
AUTHORS: Laia Masvidal; Susana Igreja; Maria D Ramos; Antoni Alvarez; Javier De Gracia; Anabela Ramalho; Margarida D Amaral; Sara Larriba; Teresa Casals;
PUBLISHED: 2014, SOURCE: European Journal of Human Genetics, VOLUME: 22, ISSUE: 6
INDEXED IN: Scopus
IN MY: ORCID
82
TITLE: Rapidly progressive frontotemporal dementia and bulbar amyotrophic lateral sclerosis in Portuguese patients with C9orf72 mutation
AUTHORS: Catarina Chester; Mamede de Carvalho ; Gabriel Miltenberger; Sonia Pereira; Lubina Dillen; Julie van der Zee; Christine van Broeckhoven; Alexandre de Mendonca ;
PUBLISHED: 2013, SOURCE: AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, VOLUME: 14, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
83
TITLE: Changes in transcriptome of native nasal epithelium expressing F508del-CFTR and intersecting data from comparable studies  Full Text
AUTHORS: Clarke, LA ; Sousa, L ; Barreto, C; Amaral, MD;
PUBLISHED: 2013, SOURCE: RESPIRATORY RESEARCH, VOLUME: 14, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
84
TITLE: Simultaneous detection of West Nile and Japanese encephalitis virus RNA by duplex TaqMan RT-PCR  Full Text
AUTHORS: Silvia C Barros; Fernanda Ramos; Libia Ze Ze ; Maria J Alves; Teresa Fagulha; Margarida Duarte; Margarida Henriques ; Tiago Luis; Miguel Fevereiro ;
PUBLISHED: 2013, SOURCE: JOURNAL OF VIROLOGICAL METHODS, VOLUME: 193, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
85
TITLE: Osteomyelitis: an overview of antimicrobial therapy  Full Text
AUTHORS: Diana Gomes; Margarida Pereira; Ana Francisca Bettencourt ;
PUBLISHED: 2013, SOURCE: BRAZILIAN JOURNAL OF PHARMACEUTICAL SCIENCES, VOLUME: 49, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
86
TITLE: A 72-year-old woman with an uncorrected tetralogy of Fallot presenting with possible pulmonary endocarditis: A case report  Full Text
AUTHORS: Sousa, P; Santos, W; Marques, N; Cordeiro, P; Ferrinha, R; Pereira, S; Almeida, A ; Jesus, I;
PUBLISHED: 2013, SOURCE: Journal of Medical Case Reports, VOLUME: 7, ISSUE: 1
INDEXED IN: Scopus CrossRef: 8
88
TITLE: High-Content siRNA Screen Reveals Global ENaC Regulators and Potential Cystic Fibrosis Therapy Targets
AUTHORS: Joana Almaça; Diana Faria; Marisa Sousa; Inna Uliyakina; Christian Conrad; Lalida Sirianant; Luka A Clarke; José Paulo Martins; Miguel Santos; Jean-Karim Heriché; Wolfgang Huber; Rainer Schreiber; Rainer Pepperkok; Karl Kunzelmann; Margarida D Amaral;
PUBLISHED: 2013, SOURCE: Cell, VOLUME: 154, ISSUE: 6
INDEXED IN: CrossRef
IN MY: ORCID
89
TITLE: Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
AUTHORS: Patrick R Sosnay; Karen R Siklosi; Fredrick Van Goor; Kyle Kaniecki; Haihui Yu; Neeraj Sharma; Anabela S Ramalho; Margarida D Amaral; Ruslan Dorfman; Julian Zielenski; David L Masica; Rachel Karchin; Linda Millen; Philip J Thomas; George P Patrinos; Mary Corey; Michelle H Lewis; Johanna M Rommens; Carlo Castellani; Christopher M Penland; Garry R Cutting; ...More
PUBLISHED: 2013, SOURCE: Nature Genetics, VOLUME: 45(10)
INDEXED IN: Handle
90
TITLE: PHOSPHORYLATION OF CFTR SER-737 RESIDUE BY LMTK2 REGULATES CFTR ENDOCYTOSIS  Full Text
AUTHORS: Luz, SF; Cihil, K; Thibodeau, PH; Brautigan, DL; Amaral, MD; Farinha, CM ; Swiatecka Urban, A;
PUBLISHED: 2012, SOURCE: PEDIATRIC PULMONOLOGY, VOLUME: 47
INDEXED IN: WOS
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