Search Results - "Guerreiro, Rita"

The role of TREM2 in Alzheimer's disease and other neurodegenerative disorders by Carmona, Susana, Zahs, Kathleen, Wu, Elizabeth, Dakin, Kelly, Bras, Jose, Guerreiro, Rita

“…Alzheimer's disease is a genetically complex disorder; rare variants in the triggering receptor expressed on myeloid cells 2 (TREM2) gene have been shown to as…”
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Reply to: Genome-wide association studies of polygenic risk score-derived phenotypes may lead to inflated false positive rates by Guerreiro, Rita, Bras, Jose

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The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE by Guerreiro, Rita J, Gustafson, Deborah R, Hardy, John

“…Abstract Alzheimer's disease (AD) is a complex disorder with a clear genetic component. Three genes have been identified as the cause of early onset familial…”
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Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis by BRAS, Jose, VERLOES, Alain, SCHNEIDER, Susanne A, MOLE, Sara E, GUERREIRO, Rita J

“…Neuronal ceroid lipofuscinoses (NCLs) comprise a heterogeneous group of metabolic storage diseases that present with the accumulation of autofluorescent…”
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A locked immunometabolic switch underlies TREM2 R47H loss of function in human iPSC‐derived microglia by Piers, Thomas M., Cosker, Katharina, Mallach, Anna, Johnson, Gabriel Thomas, Guerreiro, Rita, Hardy, John, Pocock, Jennifer M.

“…Loss‐of‐function genetic variants of triggering receptor expressed on myeloid cells 2 (TREM2) are linked with an enhanced risk of developing dementias…”
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Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer’s disease: a case series by Ryan, Natalie S, Dr, Nicholas, Jennifer M, PhD, Weston, Philip S J, MRCP, Liang, Yuying, MRCP, Lashley, Tammaryn, PhD, Guerreiro, Rita, PhD, Adamson, Gary, BSc, Kenny, Janna, MRCP, Beck, Jon, FRCPath, Chavez-Gutierrez, Lucia, PhD, de Strooper, Bart, Prof, Revesz, Tamas, Prof, Holton, Janice, Prof, Mead, Simon, Prof, Rossor, Martin N, Prof, Fox, Nick C, Prof

“…Summary Background The causes of phenotypic heterogeneity in familial Alzheimer’s disease with autosomal dominant inheritance are not well understood. We aimed…”
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A Paired RNAi and RabGAP Overexpression Screen Identifies Rab11 as a Regulator of β-Amyloid Production by Udayar, Vinod, Buggia-Prévot, Virginie, Guerreiro, Rita L., Siegel, Gabriele, Rambabu, Naresh, Soohoo, Amanda L., Ponnusamy, Moorthi, Siegenthaler, Barbara, Bali, Jitin, Guerreiro, Rita, Brás, José, Sassi, Celeste, Gibbs, J. Raphael, Hernandez, Dena, Lupton, Michelle K., Brown, Kristelle, Morgan, Kevin, Powell, John, Singleton, Andrew, Hardy, John, Simons, Mikael, Ries, Jonas, Puthenveedu, Manojkumar A., Hardy, John, Thinakaran, Gopal, Rajendran, Lawrence

“…Alzheimer’s disease (AD) is characterized by cerebral deposition of β-amyloid (Aβ) peptides, which are generated from amyloid precursor protein (APP) by β- and…”
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Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease by Khani, Marzieh, Gibbons, Elizabeth, Bras, Jose, Guerreiro, Rita

“…The search for rare variants in Alzheimer's disease (AD) is usually deemed a high-risk - high-reward situation. The challenges associated with this endeavor…”
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Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement by Guerreiro, Rita João, Lohmann, Ebba, Brás, José Miguel, Gibbs, Jesse Raphael, Rohrer, Jonathan D, Gurunlian, Nicole, Dursun, Burcu, Bilgic, Basar, Hanagasi, Hasmet, Gurvit, Hakan, Emre, Murat, Singleton, Andrew, Hardy, John

“…To identify new genes and risk factors associated with frontotemporal dementia (FTD). Several genes and loci have been associated with different forms of FTD,…”
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Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease by Bras, Jose, Guerreiro, Rita, Hardy, John

“…Key Points New sequencing technologies have allowed the examination of genetic variability at unprecedented resolution and scale. From testing millions of…”
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Genome-wide association of polygenic risk extremes for Alzheimer's disease in the UK Biobank by Gouveia, Catarina, Gibbons, Elizabeth, Dehghani, Nadia, Eapen, James, Guerreiro, Rita, Bras, Jose

“…In just over a decade, advances in genome-wide association studies (GWAS) have offered an approach to stratify individuals based on genetic risk for disease…”
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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD by Renton, Alan E., Majounie, Elisa, Waite, Adrian, Simón-Sánchez, Javier, Rollinson, Sara, Gibbs, J. Raphael, Schymick, Jennifer C., Laaksovirta, Hannu, van Swieten, John C., Myllykangas, Liisa, Kalimo, Hannu, Paetau, Anders, Abramzon, Yevgeniya, Remes, Anne M., Kaganovich, Alice, Scholz, Sonja W., Duckworth, Jamie, Ding, Jinhui, Harmer, Daniel W., Hernandez, Dena G., Johnson, Janel O., Mok, Kin, Ryten, Mina, Trabzuni, Danyah, Guerreiro, Rita J., Orrell, Richard W., Neal, James, Murray, Alex, Pearson, Justin, Jansen, Iris E., Sondervan, David, Seelaar, Harro, Blake, Derek, Young, Kate, Halliwell, Nicola, Callister, Janis Bennion, Toulson, Greg, Richardson, Anna, Gerhard, Alex, Snowden, Julie, Mann, David, Neary, David, Nalls, Michael A., Peuralinna, Terhi, Jansson, Lilja, Isoviita, Veli-Matti, Kaivorinne, Anna-Lotta, Hölttä-Vuori, Maarit, Ikonen, Elina, Sulkava, Raimo, Benatar, Michael, Wuu, Joanne, Chiò, Adriano, Restagno, Gabriella, Borghero, Giuseppe, Sabatelli, Mario, Heckerman, David, Rogaeva, Ekaterina, Zinman, Lorne, Rothstein, Jeffrey D., Sendtner, Michael, Drepper, Carsten, Eichler, Evan E., Alkan, Can, Abdullaev, Ziedulla, Pack, Svetlana D., Dutra, Amalia, Pak, Evgenia, Hardy, John, Singleton, Andrew, Williams, Nigel M., Heutink, Peter, Pickering-Brown, Stuart, Morris, Huw R., Tienari, Pentti J., Traynor, Bryan J.

“…The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes…”
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Genetic architecture of common non-Alzheimer’s disease dementias by Guerreiro, Rita, Gibbons, Elizabeth, Tábuas-Pereira, Miguel, Kun-Rodrigues, Celia, Santo, Gustavo C., Bras, Jose

“…Frontotemporal dementia (FTD), dementia with Lewy bodies (DLB) and vascular dementia (VaD) are the most common forms of dementia after Alzheimer's disease…”
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Correction: Challenge accepted: Uncovering the role of rare genetic variants in Alzheimer’s disease by Khani, Marzieh, Gibbons, Elizabeth, Bras, Jose, Guerreiro, Rita

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Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease by Neumann, Juliane, Bras, Jose, Deas, Emma, O'Sullivan, Sean S., Parkkinen, Laura, Lachmann, Robin H., Li, Abi, Holton, Janice, Guerreiro, Rita, Paudel, Reema, Segarane, Badmavady, Singleton, Andrew, Lees, Andrew, Hardy, John, Houlden, Henry, Revesz, Tamas, Wood, Nicholas W.

“…Mutations in the glucocerebrosidase gene (GBA) are associated with Gaucher's disease, the most common lysosomal storage disorder. Parkinsonism is an…”
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Alzheimer's disease genetics: lessons to improve disease modelling by Guerreiro, Rita J, Hardy, John

“…In the present review, we look back at the recent history of GWAS (genome-wide association studies) in AD (Alzheimer's disease) and integrate the major…”
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H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations? by Erro, Roberto, Hersheson, Joshua, Ganos, Christos, Mencacci, Niccoló E., Stamelou, Maria, Batla, Amit, Thust, Stefanie Catherine, Bras, Jose M., Guerreiro, Rita J., Hardy, John, Quinn, Niall P., Houlden, Henry, Bhatia, Kailash P.

“…Recently, mutations in the TUBB4A gene have been found to underlie hypomyelination with atrophy of the basal ganglia and cerebellum (H‐ABC) syndrome, a rare…”
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Reconsidering the role of blood-brain barrier in Alzheimer's disease: From delivery to target by Sousa, João André, Bernardes, Catarina, Bernardo-Castro, Sara, Lino, Miguel, Albino, Inês, Ferreira, Lino, Brás, José, Guerreiro, Rita, Tábuas-Pereira, Miguel, Baldeiras, Inês, Santana, Isabel, Sargento-Freitas, João

“…The existence of a selective blood-brain barrier (BBB) and neurovascular coupling are two unique central nervous system vasculature features that result in an…”
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Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease by Guerreiro, Rita João, Lohmann, Ebba, Kinsella, Emma, Brás, José Miguel, Luu, Nga, Gurunlian, Nicole, Dursun, Burcu, Bilgic, Basar, Santana, Isabel, Hanagasi, Hasmet, Gurvit, Hakan, Gibbs, Jesse Raphael, Oliveira, Catarina, Emre, Murat, Singleton, Andrew

“…Abstract Alzheimer's disease (AD) is a genetically complex disorder for which the definite diagnosis is only accomplished postmortem. Mutations in 3 genes (…”
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The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease? by Faller, Kiterie M.E., Bras, Jose, Sharpe, Samuel J., Anderson, Glenn W., Darwent, Lee, Kun-Rodrigues, Celia, Alroy, Joseph, Penderis, Jacques, Mole, Sara E., Gutierrez-Quintana, Rodrigo, Guerreiro, Rita J.

“…Neuronal ceroid lipofuscinoses (NCLs) are a group of incurable lysosomal storage disorders characterized by neurodegeneration and accumulation of lipopigments…”
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