1
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
2
TITLE: Exploring first-degree family history in a cohort of Portuguese Alzheimer's disease patients: population evidence for X-chromosome linked and recessive inheritance of risk factors  Full Text
AUTHORS: Tabuas Pereira, Miguel; Bernardes, Catarina; Duraes, Joao; Lima, Marisa; Nogueira, Ana Rita; Saraiva, Jorge; Tabuas, Teresa; Coelho, Mariana; Paquette, Kimberly; Westra, Kaitlyn; Kun Rodrigues, Celia; Almeida, Maria Rosario; Baldeiras, Ines; Bras, Jose; Guerreiro, Rita; Santana, Isabel;
PUBLISHED: 2024, SOURCE: JOURNAL OF NEUROLOGY
INDEXED IN: Scopus WOS
3
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
4
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
5
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
6
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
7
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
8
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
9
TITLE: Early-onset phenotype of bi-allelic GRN mutations  Full Text
AUTHORS: Neuray, C; Sultan, T; Alvi, JR; Franca, MC; Assmann, B; Wagner, M; Canafoglia, L; Franceschetti, S; Rossi, G; Santana, I; Macario, MC; Almeida, MR; Kamate, M; Parikh, S; Elloumi, HZ; Murphy, D; Efthymiou, S; Maroofian, R; Houlden, H;
PUBLISHED: 2021, SOURCE: BRAIN, VOLUME: 144, ISSUE: 2
INDEXED IN: Scopus WOS
10
TITLE: Serum neurofilament light chain as a surrogate of cognitive decline in sporadic and familial frontotemporal dementia  Full Text
AUTHORS: Silva Spinola, A; Lima, M; Leitao, MJ; Duraes, J; Tabuas Pereira, M; Almeida, MR; Santana, I; Baldeiras, I;
PUBLISHED: 2021, SOURCE: EUROPEAN JOURNAL OF NEUROLOGY
INDEXED IN: WOS
Page 1 of 3. Total results: 22.