Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature
El Abiad, Jad M., Robbins, Sarah M., Cohen, Bernard, Levin, Adam S., Valle, David L., Morris, Carol D., Macena Sobreira, Nara L.
Published in American journal of medical genetics. Part A (01.05.2020)
Published in American journal of medical genetics. Part A (01.05.2020)
Get full text
Journal Article
Trophic strategy and bleaching resistance in reef-building corals
Conti-Jerpe, Inga E, Thompson, Philip D, Wong, Cheong Wai Martin, Oliveira, Nara L, Duprey, Nicolas N, Moynihan, Molly A, Baker, David M
Published in Science advances (10.04.2020)
Published in Science advances (10.04.2020)
Get full text
Journal Article
Taxane‐induced neurotoxicity: Pathophysiology and therapeutic perspectives
Costa, Robson, Passos, Giselle F., Quintão, Nara L.M., Fernandes, Elizabeth S., Maia, João Raphael L.C.B., Campos, Maria Martha, Calixto, João B.
Published in British journal of pharmacology (01.07.2020)
Published in British journal of pharmacology (01.07.2020)
Get full text
Journal Article
Porphyromonas gingivalis Outer Membrane Vesicles as the Major Driver of and Explanation for Neuropathogenesis, the Cholinergic Hypothesis, Iron Dyshomeostasis, and Salivary Lactoferrin in Alzheimer’s Disease
Nara, Peter L., Sindelar, Daniel, Penn, Marc S., Potempa, Jan, Griffin, W. Sue T.
Published in Journal of Alzheimer's disease (17.08.2021)
Published in Journal of Alzheimer's disease (17.08.2021)
Get full text
Journal Article
Cannabinoid agonists inhibit neuropathic pain induced by brachial plexus avulsion in mice by affecting glial cells and MAP kinases
Paszcuk, Ana F, Dutra, Rafael C, da Silva, Kathryn A B S, Quintão, Nara L M, Campos, Maria M, Calixto, João B
Published in PloS one (13.09.2011)
Published in PloS one (13.09.2011)
Get full text
Journal Article
A conserved electrostatic membrane‐binding surface in synaptotagmin‐like proteins revealed using molecular phylogenetic analysis and homology modeling
Chon, Nara L., Tran, Sherleen, Miller, Christopher S., Lin, Hai, Knight, Jefferson D.
Published in Protein science (01.01.2024)
Published in Protein science (01.01.2024)
Get full text
Journal Article
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
Philippakis, Anthony A., Azzariti, Danielle R., Beltran, Sergi, Brookes, Anthony J., Brownstein, Catherine A., Brudno, Michael, Brunner, Han G., Buske, Orion J., Carey, Knox, Doll, Cassie, Dumitriu, Sergiu, Dyke, Stephanie O.M., den Dunnen, Johan T., Firth, Helen V., Gibbs, Richard A., Girdea, Marta, Gonzalez, Michael, Haendel, Melissa A., Hamosh, Ada, Holm, Ingrid A., Huang, Lijia, Hurles, Matthew E., Hutton, Ben, Krier, Joel B., Misyura, Andriy, Mungall, Christopher J., Paschall, Justin, Paten, Benedict, Robinson, Peter N., Schiettecatte, François, Sobreira, Nara L., Swaminathan, Ganesh J., Taschner, Peter E., Terry, Sharon F., Washington, Nicole L., Züchner, Stephan, Boycott, Kym M., Rehm, Heidi L.
Published in Human mutation (01.10.2015)
Published in Human mutation (01.10.2015)
Get full text
Journal Article
Automated preclinical detection of mechanical pain hypersensitivity and analgesia
Zhang, Zihe, Roberson, David P, Kotoda, Masakazu, Boivin, Bruno, Bohnslav, James P, González-Cano, Rafael, Yarmolinsky, David A, Turnes, Bruna Lenfers, Wimalasena, Nivanthika K, Neufeld, Shay Q, Barrett, Lee B, Quintão, Nara L M, Fattori, Victor, Taub, Daniel G, Wiltschko, Alexander B, Andrews, Nick A, Harvey, Christopher D, Datta, Sandeep Robert, Woolf, Clifford J
Published in Pain (Amsterdam) (01.12.2022)
Published in Pain (Amsterdam) (01.12.2022)
Get full text
Journal Article
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
Rafehi, Haloom, Szmulewicz, David J., Bennett, Mark F., Sobreira, Nara L.M., Pope, Kate, Smith, Katherine R., Gillies, Greta, Diakumis, Peter, Dolzhenko, Egor, Eberle, Michael A., Barcina, María García, Breen, David P., Chancellor, Andrew M., Cremer, Phillip D., Delatycki, Martin B., Fogel, Brent L., Hackett, Anna, Halmagyi, G. Michael, Kapetanovic, Solange, Lang, Anthony, Mossman, Stuart, Mu, Weiyi, Patrikios, Peter, Perlman, Susan L., Rosemergy, Ian, Storey, Elsdon, Watson, Shaun R.D., Wilson, Michael A., Zee, David S., Valle, David, Amor, David J., Bahlo, Melanie, Lockhart, Paul J.
Published in American journal of human genetics (03.07.2019)
Published in American journal of human genetics (03.07.2019)
Get full text
Journal Article
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene
Sobreira, Nara L M, Cirulli, Elizabeth T, Avramopoulos, Dimitrios, Wohler, Elizabeth, Oswald, Gretchen L, Stevens, Eric L, Ge, Dongliang, Shianna, Kevin V, Smith, Jason P, Maia, Jessica M, Gumbs, Curtis E, Pevsner, Jonathan, Thomas, George, Valle, David, Hoover-Fong, Julie E, Goldstein, David B
Published in PLoS genetics (01.05.2010)
Published in PLoS genetics (01.05.2010)
Get full text
Journal Article
Microdeletions of 3q29 Confer High Risk for Schizophrenia
Mulle, Jennifer Gladys, Dodd, Anne F., McGrath, John A., Wolyniec, Paula S., Mitchell, Adele A., Shetty, Amol C., Sobreira, Nara L., Valle, David, Rudd, M. Katharine, Satten, Glen, Cutler, David J., Pulver, Ann E., Warren, Stephen T.
Published in American journal of human genetics (13.08.2010)
Published in American journal of human genetics (13.08.2010)
Get full text
Journal Article
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome
Poll, Sarah R, Martin, Renan, Wohler, Elizabeth, Partan, Elizabeth S, Walek, Elizabeth, Salman, Shaima, Groepper, Daniel, Kratz, Lisa, Cernach, Mirlene, Jesus-Garcia, Reynaldo, Haldeman-Englert, Chad, Choi, Yoon Jae, Morris, Carol D, Cohen, Bernard, Hoover-Fong, Julie, Valle, David, Semenza, Gregg L, Sobreira, Nara L M
Published in PLoS genetics (08.12.2022)
Published in PLoS genetics (08.12.2022)
Get full text
Journal Article
Dynamics of coral reef benthic assemblages of the Abrolhos Bank, eastern Brazil: inferences on natural and anthropogenic drivers
Francini-Filho, Ronaldo B, Coni, Ericka O C, Meirelles, Pedro M, Amado-Filho, Gilberto M, Thompson, Fabiano L, Pereira-Filho, Guilherme H, Bastos, Alex C, Abrantes, Douglas P, Ferreira, Camilo M, Gibran, Fernando Z, Güth, Arthur Z, Sumida, Paulo Y G, Oliveira, Nara L, Kaufman, Les, Minte-Vera, Carolina V, Moura, Rodrigo L
Published in PloS one (24.01.2013)
Published in PloS one (24.01.2013)
Get full text
Journal Article
Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis
Te Riele, Anneline S J M, Agullo-Pascual, Esperanza, James, Cynthia A, Leo-Macias, Alejandra, Cerrone, Marina, Zhang, Mingliang, Lin, Xianming, Lin, Bin, Sobreira, Nara L, Amat-Alarcon, Nuria, Marsman, Roos F, Murray, Brittney, Tichnell, Crystal, van der Heijden, Jeroen F, Dooijes, Dennis, van Veen, Toon A B, Tandri, Harikrishna, Fowler, Steven J, Hauer, Richard N W, Tomaselli, Gordon, van den Berg, Maarten P, Taylor, Matthew R G, Brun, Francesca, Sinagra, Gianfranco, Wilde, Arthur A M, Mestroni, Luisa, Bezzina, Connie R, Calkins, Hugh, Peter van Tintelen, J, Bu, Lei, Delmar, Mario, Judge, Daniel P
Published in Cardiovascular research (01.01.2017)
Published in Cardiovascular research (01.01.2017)
Get full text
Journal Article
A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex
You, Jing, Sobreira, Nara L., Gable, Dustin L., Jurgens, Julie, Grange, Dorothy K., Belnap, Newell, Siniard, Ashley, Szelinger, Szabolcs, Schrauwen, Isabelle, Richholt, Ryan F., Vallee, Stephanie E., Dinulos, Mary Beth P., Valle, David, Armanios, Mary, Hoover-Fong, Julie
Published in American journal of human genetics (05.05.2016)
Published in American journal of human genetics (05.05.2016)
Get full text
Journal Article
Analysis of the Effect of the TRPC4/TRPC5 Blocker, ML204, in Sucrose-Induced Metabolic Imbalance
Araújo, Mizael C, Soczek, Suzany H. S, Pontes, Jaqueline P, Pinto, Bruno A. S, França, Lucas M, Soley, Bruna da Silva, Santos, Gabriela S, Saminez, Warlison F. de Silva, Fernandes, Fernanda K. M, Lima, João L. do Carmo, Maria-Ferreira, Daniele, Rodrigues, João F. S, Quintão, Nara L. M, Monteiro-Neto, Valério, Paes, Antônio M. A, Fernandes, Elizabeth S
Published in Pharmaceuticals (Basel, Switzerland) (01.08.2023)
Published in Pharmaceuticals (Basel, Switzerland) (01.08.2023)
Get full text
Journal Article