Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

Mice Knocked Out for the Primary Brain Calcification-Associated Gene Slc20a2 Show Unimpaired Prenatal Survival but Retarded Growth and Nodules in the Brain that Grow and Calcify Over Time.

Jensen, Nina; Schrøder, Henrik D; Hejbøl, Eva K; Thomsen, Jesper S; Brüel, Annemarie; Larsen, Frederik T; Vinding, Mikkel C; Orlowski, Dariusz; Füchtbauer, Ernst-Martin; Oliveira, João R M; Pedersen, Lene.

Am J Pathol ; 188(8): 1865-1881, 2018 08.

Artigo em Inglês | MEDLINE | ID: mdl-29803831

2.

Expansion of the Primrose syndrome phenotype through the comparative analysis of two new case reports with ZBTB20 variants.

Ferreira, Laura D; Borges-Medeiros, Rayssa L; Thies, Jenny; Schnur, Rhonda E; Lam, Christina; de Oliveira, João R M.

Am J Med Genet A ; 179(11): 2228-2232, 2019 11.

Artigo em Inglês | MEDLINE | ID: mdl-31321892

3.

Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.

Lemos, Roberta R; Ramos, Eliana M; Legati, Andrea; Nicolas, Gaël; Jenkinson, Emma M; Livingston, John H; Crow, Yanick J; Campion, Dominique; Coppola, Giovanni; Oliveira, João R M.

Hum Mutat ; 36(5): 489-95, 2015 May.

Artigo em Inglês | MEDLINE | ID: mdl-25726928

4.

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.

Hsu, Sandy Chan; Sears, Renee L; Lemos, Roberta R; Quintáns, Beatriz; Huang, Alden; Spiteri, Elizabeth; Nevarez, Lisette; Mamah, Catherine; Zatz, Mayana; Pierce, Kerrie D; Fullerton, Janice M; Adair, John C; Berner, Jon E; Bower, Matthew; Brodaty, Henry; Carmona, Olga; Dobricic, Valerija; Fogel, Brent L; García-Estevez, Daniel; Goldman, Jill; Goudreau, John L; Hopfer, Suellen; Jankovic, Milena; Jaumà, Serge; Jen, Joanna C; Kirdlarp, Suppachok; Klepper, Joerg; Kostic, Vladimir; Lang, Anthony E; Linglart, Agnès; Maisenbacher, Melissa K; Manyam, Bala V; Mazzoni, Pietro; Miedzybrodzka, Zofia; Mitarnun, Witoon; Mitchell, Philip B; Mueller, Jennifer; Novakovic, Ivana; Paucar, Martin; Paulson, Henry; Simpson, Sheila A; Svenningsson, Per; Tuite, Paul; Vitek, Jerrold; Wetchaphanphesat, Suppachok; Williams, Charles; Yang, Michele; Schofield, Peter R; de Oliveira, João R M; Sobrido, María-Jesús.

Neurogenetics ; 14(1): 11-22, 2013 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-23334463

5.

COVID-19 Unveiling Brain Calcifications.

Sadok, Sara H; de Oliveira, João R M.

J Mol Neurosci ; 72(1): 25-26, 2022 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-34396455

6.

Editorial of Concern.

Sadok, Sara H; Borges-Medeiros, Rayssa L; de Oliveira, João R M.

J Mol Neurosci ; 72(1): 24, 2022 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-34480319

7.

New Data from Pdfgb ^ret/ret Mutant Mice Might Lead to a Paradoxical Association Between Brain Calcification, Pericytes Recruitment and BBB Integrity.

Moura, Denis A P; Lemos, Roberta R; Oliveira, João R M.

J Mol Neurosci ; 63(3-4): 419-421, 2017 12.

Artigo em Inglês | MEDLINE | ID: mdl-29098547

8.

Brain calcifications and PCDH12 variants.

Nicolas, Gaël; Sanchez-Contreras, Monica; Ramos, Eliana Marisa; Lemos, Roberta R; Ferreira, Joana; Moura, Denis; Sobrido, Maria J; Richard, Anne-Claire; Lopez, Alma Rosa; Legati, Andrea; Deleuze, Jean-François; Boland, Anne; Quenez, Olivier; Krystkowiak, Pierre; Favrole, Pascal; Geschwind, Daniel H; Aran, Adi; Segel, Reeval; Levy-Lahad, Ephrat; Dickson, Dennis W; Coppola, Giovanni; Rademakers, Rosa; de Oliveira, João R M.

Neurol Genet ; 3(4): e166, 2017 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-28804758

9.

CJD without borders.

Cunha, José Eriton G; Nascimento, Jessica C F; Oliveira, João R M.

Nat Rev Neurol ; 17(11): 723, 2021 11.

Artigo em Inglês | MEDLINE | ID: mdl-34561624

10.

Monoamine oxidase a polymorphism in Brazilian patients: risk factor for late-onset Alzheimer's disease?

Nishimura, Agnes L; Guindalini, Camila; Oliveira, João R M; Nitrini, Ricardo; Bahia, Valéria S; de Brito-Marques, Paulo R; Otto, Paulo A; Zatz, Mayana.

J Mol Neurosci ; 27(2): 213-7, 2005.

Artigo em Inglês | MEDLINE | ID: mdl-16186632

11.

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.

Legati, Andrea; Giovannini, Donatella; Nicolas, Gaël; López-Sánchez, Uriel; Quintáns, Beatriz; Oliveira, João R M; Sears, Renee L; Ramos, Eliana Marisa; Spiteri, Elizabeth; Sobrido, María-Jesús; Carracedo, Ángel; Castro-Fernández, Cristina; Cubizolle, Stéphanie; Fogel, Brent L; Goizet, Cyril; Jen, Joanna C; Kirdlarp, Suppachok; Lang, Anthony E; Miedzybrodzka, Zosia; Mitarnun, Witoon; Paucar, Martin; Paulson, Henry; Pariente, Jérémie; Richard, Anne-Claire; Salins, Naomi S; Simpson, Sheila A; Striano, Pasquale; Svenningsson, Per; Tison, François; Unni, Vivek K; Vanakker, Olivier; Wessels, Marja W; Wetchaphanphesat, Suppachok; Yang, Michele; Boller, Francois; Campion, Dominique; Hannequin, Didier; Sitbon, Marc; Geschwind, Daniel H; Battini, Jean-Luc; Coppola, Giovanni.

Nat Genet ; 47(6): 579-81, 2015 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-25938945

12.

Analysis of IL-1alpha, IL-1beta, and IL-1RA [correction of IL-RA] polymorphisms in dysthymia.

Fertuzinhos, Sofia M M; Oliveira, João R M; Nishimura, Agnes L; Pontual, Deyse; Carvalho, Daniel R; Sougey, Everton B; Otto, Paulo A; Zatz, Mayana.

J Mol Neurosci ; 22(3): 251-6, 2004.

Artigo em Inglês | MEDLINE | ID: mdl-14997019

13.

Lack of association between the brain-derived neurotrophin factor (C-270T) polymorphism and late-onset Alzheimer's disease (LOAD) in Brazilian patients.

Nishimura, Agnes L; Oliveira, João R M; Mitne-Neto, Miguel; Guindalini, Camila; Nitrini, Ricar; Bahia, Valéria S; de Brito-Marques, Paulo R; Otto, Paulo A; Zatz, Mayana.

J Mol Neurosci ; 22(3): 257-60, 2004.

Artigo em Inglês | MEDLINE | ID: mdl-14997020

14.

Psychiatric symptoms are present in most of the patients with idiopathic normal pressure hydrocephalus.

Oliveira, Matheus F; Oliveira, João R M; Rotta, José M; Pinto, Fernando C G.

Arq Neuropsiquiatr ; 72(6): 435-8, 2014 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-24964110

15.

An update on primary familial brain calcification.

Lemos, Roberta R; Ferreira, J B M M; Keasey, Matthew P; Oliveira, Joao R M.

Int Rev Neurobiol ; 110: 349-71, 2013.

Artigo em Inglês | MEDLINE | ID: mdl-24209445

16.

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.

Keller, Annika; Westenberger, Ana; Sobrido, Maria J; García-Murias, Maria; Domingo, Aloysius; Sears, Renee L; Lemos, Roberta R; Ordoñez-Ugalde, Andres; Nicolas, Gael; da Cunha, José E Gomes; Rushing, Elisabeth J; Hugelshofer, Michael; Wurnig, Moritz C; Kaech, Andres; Reimann, Regina; Lohmann, Katja; Dobricic, Valerija; Carracedo, Angel; Petrovic, Igor; Miyasaki, Janis M; Abakumova, Irina; Mäe, Maarja Andaloussi; Raschperger, Elisabeth; Zatz, Mayana; Zschiedrich, Katja; Klepper, Jörg; Spiteri, Elizabeth; Prieto, Jose M; Navas, Inmaculada; Preuss, Michael; Dering, Carmen; Jankovic, Milena; Paucar, Martin; Svenningsson, Per; Saliminejad, Kioomars; Khorshid, Hamid R K; Novakovic, Ivana; Aguzzi, Adriano; Boss, Andreas; Le Ber, Isabelle; Defer, Gilles; Hannequin, Didier; Kostic, Vladimir S; Campion, Dominique; Geschwind, Daniel H; Coppola, Giovanni; Betsholtz, Christer; Klein, Christine; Oliveira, Joao R M.

Nat Genet ; 45(9): 1077-82, 2013 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-23913003

17.

Exaggerated blood pressure response during exercise treadmill testing: functional and hemodynamic features, and risk factors.

de Lima, Sandro G; de Albuquerque, Maria de F P M; de Oliveira, João R M; Ayres, Constância F J; da Cunha, José E G; de Oliveira, Danyllo F; de Lemos, Roberta R; de Souza, Manuela B R; e Silva, Odwaldo B.

Hypertens Res ; 35(7): 733-8, 2012 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-22357524

18.

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.

Wang, Cheng; Li, Yulei; Shi, Lei; Ren, Jie; Patti, Monica; Wang, Tao; de Oliveira, João R M; Sobrido, María-Jesús; Quintáns, Beatriz; Baquero, Miguel; Cui, Xiaoniu; Zhang, Xiang-Yang; Wang, Lianqing; Xu, Haibo; Wang, Junhan; Yao, Jing; Dai, Xiaohua; Liu, Juan; Zhang, Lu; Ma, Hongying; Gao, Yong; Ma, Xixiang; Feng, Shenglei; Liu, Mugen; Wang, Qing K; Forster, Ian C; Zhang, Xue; Liu, Jing-Yu.

Nat Genet ; 44(3): 254-6, 2012 Feb 12.

Artigo em Inglês | MEDLINE | ID: mdl-22327515

19.

Clarifying samples in Zika analyses.

de Oliveira, João R M; Moura, Denis A P.

Science ; 353(6298): 452, 2016 Jul 29.

Artigo em Inglês | MEDLINE | ID: mdl-27471296

20.

Population and computational analysis of the MGEA6 P521A variation as a risk factor for familial idiopathic basal ganglia calcification (Fahr's disease).

Lemos, Roberta R; Oliveira, Danyllo F; Zatz, Mayana; Oliveira, João R M.

J Mol Neurosci ; 43(3): 333-6, 2011 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-20838928

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