Search Results - "Bras, Jose"

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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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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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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Bordetella hinzii Pneumonia in Patient with SARS-CoV-2 Infection by Ben Lakhal, Hend, Cachinho, José Bras, Kalfon, Pierre, Naas, Thierry, Benseddik, Zehaira

“…Patients infected with severe acute respiratory syndrome coronavirus 2 might have bacterial and fungal superinfections develop. We describe a clinical case of…”
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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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Microdeletion in a FAAH pseudogene identified in a patient with high anandamide concentrations and pain insensitivity by Habib, Abdella M, Okorokov, Andrei L, Hill, Matthew N, Bras, Jose T, Lee, Man-Cheung, Li, Shengnan, Gossage, Samuel J, van Drimmelen, Marie, Morena, Maria, Houlden, Henry, Ramirez, Juan D, Bennett, David L H, Srivastava, Devjit, Cox, James J

“…The study of rare families with inherited pain insensitivity can identify new human-validated analgesic drug targets. Here, a 66-yr-old female presented with…”
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For an epistemic decolonisation of education from the ubuntu philosophy by Brás, José Gregório Viegas

“…Drawing on ubuntu philosophy and notions of otherness, this paper and refers to, but is not limited to, the South African experience. In a relatively…”
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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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Genome-wide association study reveals genetic risk underlying Parkinson's disease by Singleton, Andrew B, Gasser, Thomas, Simón-Sánchez, Javier, Schulte, Claudia, Bras, Jose M, Sharma, Manu, Gibbs, J Raphael, Berg, Daniela, Paisan-Ruiz, Coro, Lichtner, Peter, Scholz, Sonja W, Hernandez, Dena G, Krüger, Rejko, Federoff, Monica, Klein, Christine, Goate, Alison, Perlmutter, Joel, Bonin, Michael, Nalls, Michael A, Illig, Thomas, Gieger, Christian, Houlden, Henry, Steffens, Michael, Okun, Michael S, Racette, Brad A, Cookson, Mark R, Foote, Kelly D, Fernandez, Hubert H, Traynor, Bryan J, Schreiber, Stefan, Arepalli, Sampath, Zonozi, Ryan, Gwinn, Katrina, van der Brug, Marcel, Lopez, Grisel, Chanock, Stephen J, Schatzkin, Arthur, Park, Yikyung, Hollenbeck, Albert, Gao, Jianjun, Huang, Xuemei, Wood, Nick W, Lorenz, Delia, Deuschl, Günther, Chen, Honglei, Riess, Olaf, Hardy, John A

“…We performed a genome-wide association study (GWAS) in 1,713 individuals of European ancestry with Parkinson's disease (PD) and 3,978 controls. After…”
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Homozygous TREM2 mutation in a family with atypical frontotemporal dementia by Le Ber, Isabelle, De Septenville, Anne, Guerreiro, Rita, Bras, José, Camuzat, Agnès, Caroppo, Paola, Lattante, Serena, Couarch, Philippe, Kabashi, Edor, Bouya-Ahmed, Kawtar, Dubois, Bruno, Brice, Alexis

“…Abstract TREM2 mutations were first identified in Nasu-Hakola disease, a rare autosomal recessive disease characterized by recurrent fractures because of bone…”
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Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis by Charlesworth, Gavin, Plagnol, Vincent, Holmström, Kira M., Bras, Jose, Sheerin, Una-Marie, Preza, Elisavet, Rubio-Agusti, Ignacio, Ryten, Mina, Schneider, Susanne A., Stamelou, Maria, Trabzuni, Daniah, Abramov, Andrey Y., Bhatia, Kailash P., Wood, Nicholas W.

“…In this study, we combined linkage analysis with whole-exome sequencing of two individuals to identify candidate causal variants in a moderately-sized UK…”
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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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Coding variation in GBA explains the majority of the SYT11‐GBA Parkinson's disease GWAS locus by Blauwendraat, Cornelis, Bras, Jose M., Nalls, Mike A., Lewis, Patrick A., Hernandez, Dena G., Singleton, Andrew B.

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Understanding How Intelligent Process Automation Impacts Business Continuity: Mapping IEEE/2755:2020 and ISO/22301:2019 by Cascais Bras, Jose, Pereira, Ruben Filipe, Moro, Sergio, Bianchi, Isaias Scalabrin, Ribeiro, Rui

“…Organizations have been responding to possible disruptions in the organization and, at the same time, trying to increase customer satisfaction through…”
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Genotype, haplotype and copy-number variation in worldwide human populations by Rosenberg, Noah A, Singleton, Andrew B, Jakobsson, Mattias, Scholz, Sonja W, Scheet, Paul, Gibbs, J. Raphael, VanLiere, Jenna M, Fung, Hon-Chung, Szpiech, Zachary A, Degnan, James H, Wang, Kai, Guerreiro, Rita, Bras, Jose M, Schymick, Jennifer C, Hernandez, Dena G, Traynor, Bryan J, Simon-Sanchez, Javier, Matarin, Mar, Britton, Angela, van de Leemput, Joyce, Rafferty, Ian, Bucan, Maja, Cann, Howard M, Hardy, John A

“…Genome-wide patterns of variation across individuals provide a powerful source of data for uncovering the history of migration, range expansion, and adaptation…”
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TYROBP genetic variants in early-onset Alzheimer's disease by Pottier, Cyril, Ravenscroft, Thomas A, Brown, Patricia H, Finch, NiCole A, Baker, Matt, Parsons, Meeia, Asmann, Yan W, Ren, Yingxue, Christopher, Elizabeth, Levitch, Denise, van Blitterswijk, Marka, Cruchaga, Carlos, Campion, Dominique, Nicolas, Gaël, Richard, Anne-Claire, Guerreiro, Rita, Bras, Jose T, Zuchner, Stephan, Gonzalez, Michael A, Bu, Guojun, Younkin, Steven, Knopman, David S, Josephs, Keith A, Parisi, Joseph E, Petersen, Ronald C, Ertekin-Taner, Nilüfer, Graff-Radford, Neill R, Boeve, Bradley F, Dickson, Dennis W, Rademakers, Rosa

“…Abstract We aimed to identify new candidate genes potentially involved in early-onset Alzheimer's disease (EOAD). Exome sequencing was conducted on 45 EOAD…”
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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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