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TITLE: Characterization of Progranulin Gene Mutations in Portuguese Patients with Frontotemporal Dementia  Full Text
AUTHORS: Almeida, Maria Rosario; Tabuas Pereira, Miguel; Baldeiras, Ines; Lima, Marisa; Duraes, Joao; João Massano ; Pinto, Madalena; Cruto, Catarina; Santana, Isabel;
PUBLISHED: 2024, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 25, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
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TITLE: Towards a neurocognitive profile in familial cerebral cavernous malformations
AUTHORS: Silva, Cristiana; Duraes, Joao; Lima, Marisa; Pereira, Daniela Jardim; Santana, Isabel; Almeida, Maria Rosario;
PUBLISHED: 2023, SOURCE: ACTA NEUROLOGICA BELGICA
INDEXED IN: Scopus WOS
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TITLE: Rare variants in TP73 in a frontotemporal dementia cohort link this gene with primary progressive aphasia phenotypes  Full Text
AUTHORS: Tabuas Pereira, M; Santana, I; Almeida, MR; Duraes, J; Lima, M; Duro, D; Kun Rodrigues, C; Bras, J; Guerreiro, R;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF NEUROLOGY
INDEXED IN: Scopus WOS
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TITLE: Examining empathy deficits across familial forms of frontotemporal dementia within the GENFI cohort  Full Text
AUTHORS: Phoebe H Foster; Lucy L Russell; Georgia Peakman; Rhian S Convery; Arabella Bouzigues; Caroline V Greaves; Martina Bocchetta; David M Cash; John C van Swieten; Lize C Jiskoot; Fermin Moreno; Raquel Sanchez Valle; Robert Laforce; Caroline Graff; Mario Masellis; Carmela Tartaglia; James B Rowe; Barbara Borroni; Elizabeth Finger; Matthis Synofzik; Daniela Galimberti; Rik Vandenberghe; Alexandre de Mendonça; Chris R Butler; Alex Gerhard; Simon Ducharme; Isabelle Le Ber; Fabrizio Tagliavini; Isabel Santana; Florence Pasquier; Johannes Levin; Adrian Danek; Markus Otto; Sandro Sorbi; Jonathan D Rohrer; Sónia Afonso; Maria Rosario Almeida; Sarah Anderl Straub; Christin Andersson; Anna Antonell; Silvana Archetti; Andrea Arighi; Mircea Balasa; Myriam Barandiaran; Nuria Bargalló; Robart Bartha; Benjamin Bender; Alberto Benussi; Maxime Bertoux; Anne Bertrand; Valentina Bessi; Sandra Black; Sergi Borrego Ecija; Jose Bras; Alexis Brice; Rose Bruffaerts; Agnès Camuzat; Marta Cañada; Valentina Cantoni; Paola Caroppo; David Cash; Miguel Castelo Branco; Olivier Colliot; Thomas Cope; Vincent Deramecourt; María de Arriba; Giuseppe Di Fede; Alina Díez; Diana Duro; Chiara Fenoglio; Camilla Ferrari; Catarina B Ferreira; Nick Fox; Morris Freedman; Giorgio Fumagalli; Aurélie Funkiewiez; Alazne Gabilondo; Roberto Gasparotti; Serge Gauthier; Stefano Gazzina; Giorgio Giaccone; Ana Gorostidi; Caroline Greaves; Rita Guerreiro; Carolin Heller; Tobias Hoegen; Begoña Indakoetxea; Vesna Jelic; Hans Otto Karnath; Ron Keren; Gregory Kuchcinski; Tobias Langheinrich; Thibaud Lebouvier; Maria João Leitão; Albert Lladó; Gemma Lombardi; Sandra Loosli; Carolina Maruta; Simon Mead; Lieke Meeter; ...More
PUBLISHED: 2022, SOURCE: CORTEX, VOLUME: 150
INDEXED IN: Scopus WOS
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TITLE: Exome Sequencing of a Portuguese Cohort of Frontotemporal Dementia Patients: Looking Into the ALS-FTD Continuum  Full Text
AUTHORS: Tabuas Pereira, Miguel; Santana, Isabel; Gibbons, Elizabeth; Paquette, Kimberly; Almeida, Maria Rosario; Baldeiras, Ines; Bras, Jose; Guerreiro, Rita;
PUBLISHED: 2022, SOURCE: FRONTIERS IN NEUROLOGY, VOLUME: 13
INDEXED IN: Scopus WOS
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TITLE: Generation and Characterization of Novel iPSC Lines from a Portuguese Family Bearing Heterozygous and Homozygous GRN Mutations
AUTHORS: Oliveira, Ana Rafaela; Martins, Solange; Cammarata, Giuseppe; Martins, Mariana; Cardoso, Ana Maria; Almeida, Maria Rosario; Macario, Maria do Carmo; Santana, Isabel; Peca, Joao; Cardoso, Ana Luisa;
PUBLISHED: 2022, SOURCE: BIOMEDICINES, VOLUME: 10, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef
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TITLE: Genetic variation in APOE, GRN, and TP53 are phenotype modifiers in frontotemporal dementia  Full Text
AUTHORS: Rosas, I; Martinez, C; Coto, E; Clarimon, J; Lleo, A; Illan Gala, I; Dols Icardo, O; Borroni, B; Almeida, MR; van der Zee, J; Van Broeckhoven, C; Bruni, AC; Anfossi, M; Bernardi, L; Maletta, R; Serpente, M; Galimberti, D; Scarpini, E; Rossi, G; Caroppo, P; Benussi, L; Ghidoni, R; Binetti, G; Nacmias, B; Sorbi, S; Piaceri, I; Bagnoli, S; Antonell, A; Sanchez Valle, R; De la Casa Fages, B; Grandas, F; Diez Fairen, M; Pastor, P; Ferrari, R; Queimalinos Perez, D; Perez Oliveira, S; Alvarez, V; Menendez Gonzalez, M; ...More
PUBLISHED: 2021, SOURCE: NEUROBIOLOGY OF AGING, VOLUME: 99
INDEXED IN: Scopus WOS
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TITLE: Neuropsychological features of progranulin-associated frontotemporal dementia: a nested case-control study
AUTHORS: Marisa Lima; Miguel Tabuas Pereira; Diana Duro; Joao Duraes; Daniela Vieira; Ines Baldeiras; Maria R Almeida; Isabel Santana;
PUBLISHED: 2021, SOURCE: NEURAL REGENERATION RESEARCH, VOLUME: 16, ISSUE: 5
INDEXED IN: Scopus WOS
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TITLE: MOLECULAR CHARACTERIZATION OF A COHORT OF PATIENT'S WITH CADASIL  Full Text
AUTHORS: Elias, I; Santos, A; Santo, G; Almeida, MR;
PUBLISHED: 2021, SOURCE: 24th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 100, ISSUE: 4
INDEXED IN: WOS
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