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
Published in Nature genetics (01.03.2012)
Published in Nature genetics (01.03.2012)
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CJD without borders
Cunha, José Eriton G., Nascimento, Jessica C. F., Oliveira, João R. M.
Published in Nature reviews. Neurology (01.11.2021)
Published in Nature reviews. Neurology (01.11.2021)
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Editorial of Concern
Sadok, Sara H., Borges-Medeiros, Rayssa L., de Oliveira, João R. M.
Published in Journal of molecular neuroscience (01.01.2022)
Published in Journal of molecular neuroscience (01.01.2022)
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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.
Published in Human mutation (01.05.2015)
Published in Human mutation (01.05.2015)
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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, Oliveira, João R. M.
Published in American journal of medical genetics. Part A (01.11.2019)
Published in American journal of medical genetics. Part A (01.11.2019)
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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
Published in Hypertension research (01.07.2012)
Published in Hypertension research (01.07.2012)
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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
Published in Journal of molecular neuroscience (01.01.2005)
Published in Journal of molecular neuroscience (01.01.2005)
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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
Published in Journal of molecular neuroscience (01.01.2004)
Published in Journal of molecular neuroscience (01.01.2004)
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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.
Published in Journal of molecular neuroscience (01.03.2011)
Published in Journal of molecular neuroscience (01.03.2011)
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A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis
Nishimura, Agnes L., Mitne-Neto, Miguel, Silva, Helga C.A., Richieri-Costa, Antônio, Middleton, Susan, Cascio, Duilio, Kok, Fernando, Oliveira, João R.M., Gillingwater, Tom, Webb, Jeanette, Skehel, Paul, Zatz, Mayana
Published in American journal of human genetics (01.11.2004)
Published in American journal of human genetics (01.11.2004)
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Clarifying samples in Zika analyses
de Oliveira, João R. M., Moura, Denis A. P.
Published in Science (American Association for the Advancement of Science) (29.07.2016)
Published in Science (American Association for the Advancement of Science) (29.07.2016)
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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
Published in Neurology. Genetics (01.08.2017)
Published in Neurology. Genetics (01.08.2017)
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Erratum to: 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.
Published in Journal of molecular neuroscience (01.03.2011)
Published in Journal of molecular neuroscience (01.03.2011)
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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
Published in The American journal of pathology (01.08.2018)
Published in The American journal of pathology (01.08.2018)
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Chikungunya virus-associated encephalitis: A cohort study on La Réunion Island, 2005-2009
Oliveira, João R M, Gérardin, Patrick, Couderc, Thérèse, Randrianaivo, Hanitra, Fritel, Xavier, Lecuit, Marc
Published in Neurology (24.05.2016)
Published in Neurology (24.05.2016)
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