A Case of Deficiency of Adenosine Deaminase 2: 28 years of Diagnostic Challenges

Autor: Clara Pardinhas, Gustavo Santo, Luís Escada, Jorge Rodrigues, Maria Rosário Almeida, Rui Alves, Manuel Salgado

Publikováno v: Case Reports in Nephrology and Dialysis, Vol 11, Iss 3, Pp 340-347 (2021)

Deficiency of adenosine deaminase 2 (DADA2) is a unique monogenic autoinflammatory disease caused by autosomal recessive loss-of-function mutations in the CECR1 gene which presents as childhood-onset small- and medium-vessel vasculitis. Previously, m

Externí odkaz: https://doaj.org/article/29719f8a64fd479cacccc55b73d4e92f

Neuropsychological features of progranulin-associated frontotemporal dementia: a nested case-control study

Autor: Marisa Lima, Miguel Tábuas-Pereira, Diana Duro, João Durães, Daniela Vieira, Inês Baldeiras, Maria Rosário Almeida, Isabel Santana

Publikováno v: Neural Regeneration Research, Vol 16, Iss 5, Pp 910-915 (2021)

The distinction between sporadic and genetic behavioural-variant frontotemporal dementia (bvFTD) regarding some neuropsychological (NP) features remains challenging. Specifically, progranulin (GRN)-associated bvFTD frequently presents with early epis

Externí odkaz: https://doaj.org/article/a3cfa51a59a94c55b3dfcf56020e1a22

Generation and Characterization of Novel iPSC Lines from a Portuguese Family Bearing Heterozygous and Homozygous GRN Mutations

Autor: Ana Rafaela Oliveira, Solange Martins, Giuseppe Cammarata, Mariana Martins, Ana Maria Cardoso, Maria Rosário Almeida, Maria do Carmo Macário, Isabel Santana, João Peça, Ana Luísa Cardoso

Publikováno v: Biomedicines, Vol 10, Iss 8, p 1905 (2022)

Mutations in granulin (GRN) have been associated with neurodegenerative diseases, such as frontotemporal lobar degeneration (FTLD) and neuronal ceroid lipofuscinosis (NCL). In Portugal, GRN mutations account for around half of all FTLD cases with kno

Externí odkaz: https://doaj.org/article/5f2d9407df714eee881000f6bc274925

Addition of the Aβ42/40 ratio to the cerebrospinal fluid biomarker profile increases the predictive value for underlying Alzheimer’s disease dementia in mild cognitive impairment

Autor: Inês Baldeiras, Isabel Santana, Maria João Leitão, Helena Gens, Rui Pascoal, Miguel Tábuas-Pereira, José Beato-Coelho, Diana Duro, Maria Rosário Almeida, Catarina Resende Oliveira

Publikováno v: Alzheimer’s Research & Therapy, Vol 10, Iss 1, Pp 1-15 (2018)

Abstract Background Cerebrospinal fluid (CSF) biomarkers have been used to increase the evidence of underlying Alzheimer’s disease (AD) pathology in mild cognitive impairment (MCI). However, CSF biomarker-based classification often results in confl

Externí odkaz: https://doaj.org/article/913c676b02e34da0895550fc7436f768

A data-driven disease progression model of fluid biomarkers in genetic frontotemporal dementia

Autor: Ione O.C. Woollacott, Cristina Polito, Philip Van Damme, Mathieu Vandenbulcke, Rose Bruffaerts, Diana Duro, Chiara Fenoglio, David M. Cash, Maria Rosário Almeida, Sonja Schönecker, C. Ferreira, Sónia Afonso, Matthis Synofzik, Sara Prioni, Marta Cañada, Mikel Tainta, Miguel Tábuas-Pereira, Christin Andersson, Caroline Graff, Miguel Castelo-Branco, Enrico Premi, Håkan Thonberg, Fabrizio Tagliavini, Rachelle Shafei, Benjamin Bender, Ana Gorostidi, Maria João Leitão, Jennifer M. Nicholas, Elise G.P. Dopper, Silvana Archetti, Esther E. Bron, Ana Verdelho, Ron Keren, Isabel Santana, Christen Shoesmith, Pietro Tiraboschi, Sergi Borrego-Écija, Michela Pievani, Sandro Sorbi, Rick van Minkelen, Hans-Otto Karnath, Albert Lladó, Caroline V. Greaves, Jaume Olives, Alessandro Padovani, Miren Zulaica, Giuliano Binetti, Martin Rosser, Pedro Rosa-Neto, Vesna Jelic, Alexander Gerhard, Rosa Rademakers, Sandra E. Black, Wiro J. Niessen, Tobias Hoegen, Rhian S Convery, Janne M. Papma, Maria Carmela Tartaglia, Emily Todd, Adrian Danek, Rita Guerreiro, Robart Bartha, Linn Öijerstedt, Giuseppe Di Fede, Sebastien Ourselin, Núria Bargalló, James B. Rowe, Christopher C Butler, Giorgio G. Fumagalli, Valentina Bessi, Alberto Benussi, Nick C. Fox, Beatriz Santiago, Ekaterina Rogaeva, Alazne Gabilondo, Giacomina Rossi, Mircea Balasa, David L. Thomas, Benedetta Nacmias, Veronica Redaelli, Anna Antonell, Vikram Venkatraghavan, Jonathan D. Rohrer, Jackie M. Poos, Yolande A.L. Pijnenburg, Lieke H.H. Meeter, Carlo Wilke, Sandra V. Loosli, Elio Scarpini, Tobias Langheinrich, Alina Díez, Elisa Semler, Elizabeth Finger, Begoña Indakoetxea, Jessica L. Panman, Carolyn Timberlake, Gemma Lombardi, Luisa Benussi, Morris Freedman, Barbara Borroni, Ricardo Taipa, Johannes Levin, Thomas E. Cope, Paul M. Thompson, Giorgio Giaccone, Valentina Cantoni, Arabella Bouzigues, Jose Bras, Serge Gauthier, Andrea Arighi, Stefan Klein, Fermin Moreno, Markus Otto, Georgia Peakman, Emma L. van der Ende, David F. Tang-Wai, Sarah Anderl-Straub, Jason D. Warren, Alexandre de Mendonça, Camilla Ferrari, Elisabeth Wlasich, Catharina Prix, Michele Veldsman, Raquel Sánchez-Valle, Sara Mitchell, Carolina Maruta, Robert Laforce, Paola Caroppo, Jorge Villanua, Imogen J Swift, Harro Seelaar, Henrik Zetterberg, Simon Mead, Simon Ducharme, Myriam Barandiaran, Katrina M. Moore, John C. van Swieten, Gabriel Miltenberger, Mario Masellis, Timothy Rittman, Lize C. Jiskoot, Daniela Galimberti, Rik Vandenberghe, Carolin Heller, Stefano Gazzina, Aitana Sogorb-Esteve, Roberto Gasparotti, Martina Bocchetta

Publikováno v: Brain 145(5), 1805-1817 (2022). doi:10.1093/brain/awab382
Brain, 145(5), 1805-1817. Oxford University Press
Neuroscience Institute Publications
Brain : a journal of neurology, 145(5), 1805-1817. Oxford University Press
GENFI consortium 2022, ' A data-driven disease progression model of fluid biomarkers in genetic frontotemporal dementia ', Brain, vol. 145, no. 5, pp. 1805-1817 . https://doi.org/10.1093/brain/awab382

© The Author(s) (2021). Published by Oxford University Press on behalf of the Guarantors of Brain. This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (https://creativecommons.org/lice

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68ddeb1316dd4ccd4a2887a091c8443a
https://doi.org/10.1093/brain/awab382