Search Results - "Mendes de Oliveira, João Ricardo"

A commentary on band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations by Borges-Medeiros, Rayssa, Mendes de Oliveira, João Ricardo

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A commentary on a case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy by Dos Santos-Junior, Eraldo Fonseca, de Oliveira, João Ricardo Mendes

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Quantification of CSF biomarkers using an electrochemiluminescence-based detection system in the differential diagnosis of AD and sCJD by Llorens, Franc, Kruse, Niels, Schmitz, Matthias, Shafiq, Mohsin, da Cunha, José Eriton Gomes, Gotzman, Nadine, Zafar, Saima, Thune, Katrin, de Oliveira, João Ricardo Mendes, Mollenhauer, Brit, Zerr, Inga

“…The identification of reliable diagnostic tools for the differential diagnosis between sporadic Creutzfeldt–Jakob Disease (sCJD) and Alzheimer’s disease (AD)…”
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PDGF Family Expression in Glioblastoma Multiforme: Data Compilation from Ivy Glioblastoma Atlas Project Database by Cantanhede, Isabella Gomes, de Oliveira, João Ricardo Mendes

“…Glioblastoma Multiforme (GBM) is the most frequent and lethal primary brain cancer. Due to its therapeutic resistance and aggressiveness, its clinical…”
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Reconsidering the Association Between the Major Histocompatibility Complex and Bipolar Disorder by Figueiredo, Thalita Cristina, de Oliveira, João Ricardo Mendes

“…Bipolar disorder (BD) is a cyclical and chronic affective disorder, globally recognized as an important public health problem and characterized by mood changes…”
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Non-lethal Raine Syndrome Report Lacking Characteristic Clinical Features by Ferreira, Laura D., Leal, Gabriela F., de Oliveira, João Ricardo Mendes

“…Raine syndrome is a rare, often lethal autosomal recessive condition marked by congenital malformations that range in severity. Considering that several case…”
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Digenic Variants as Possible Clinical Modifier of Primary Familial Brain Calcification Patients by Borges-Medeiros, Rayssa Leal, de Oliveira, João Ricardo Mendes

“…Primary familial brain calcification (PFBC), widely known as Fahr’s disease, is a rare disorder caused by pathogenic variants in SLC20A2 , PDGFB , PDGFRB ,…”
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Exploring the Genetic Predisposition to Zika Virus Congenital Syndrome by de Barros, Paula Vitória Macêdo, de Oliveira, João Ricardo Mendes

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Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers by Nicolas, Gaël, Charbonnier, Camille, de Lemos, Roberta Rodrigues, Richard, Anne-Claire, Guillin, Olivier, Wallon, David, Legati, Andrea, Geschwind, Daniel, Coppola, Giovanni, Frebourg, Thierry, Campion, Dominique, de Oliveira, João Ricardo Mendes, Hannequin, Didier

“…Primary Familial Brain Calcification (PFBC) is a dominantly inherited cerebral microvascular calcifying disorder with diverse neuropsychiatric expression…”
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Why Is There No PiT1/SLC20A1 Pathogenic Variants Yet Linked to Primary Familial Brain Calcification? by dos Santos‐Junior, Eraldo Fonseca, Oliveira, João Ricardo Mendes

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MiR-9-5p Regulates Genes Linked to Cerebral Calcification in the Osteogenic Differentiation Model and Induces Generalized Alteration in the Ion Channels by Bezerra, Darlene Paiva, de Aguiar, Juliana Pereira, Keasey, Matthew Philip, Rodrigues, Cláudio Gabriel, de Oliveira, João Ricardo Mendes

“…MicroRNA-9 (miR-9) modulates gene expression and demonstrates high structural conservation and wide expression in the central nervous system. Bioinformatics…”
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The Need for Consensus on Primary Familial Brain Calcification Nomenclature by Ferreira, Laura Durão, Mendes de Oliveira, João Ricardo

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Loss of Function of Slc20a2 Associated with Familial Idiopathic Basal Ganglia Calcification in Humans Causes Brain Calcifications in Mice by Jensen, Nina, Schrøder, Henrik Daa, Hejbøl, Eva Kildall, Füchtbauer, Ernst-Martin, de Oliveira, João Ricardo Mendes, Pedersen, Lene

“…Familial idiopathic basal ganglia calcification (FIBGC) is a neurodegenerative disorder with neuropsychiatric and motor symptoms. Deleterious mutations in…”
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The Master of Puppets: Pleiotropy of PDGFRB and its Relationship to Multiple Diseases by Moura, Denis A. P., de Oliveira, João Ricardo Mendes

“…The platelet-derived growth factor receptor beta ( PDGFRB ) gene is involved in proliferative and developmental processes in mammals. Variations in this gene…”
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Familial idiopathic basal ganglia calcification: rediscovering an old challenge in organic psychiatric disorders by Oliveira, João Ricardo Mendes de, Oliveira, Matheus Fernandes de

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Lack of Major Ophthalmic Findings in Patients with Primary Familial Brain Calcification Linked to SLC20A2 and PDGFB by Borges-Medeiros, Rayssa Leal, Ferreira, Laura Durão, de Oliveira, João Ricardo Mendes

“…Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by symmetrical and bilateral brain calcification. It is…”
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Basal ganglia calcification as a putative cause for cognitive decline by de Oliveira, João Ricardo Mendes, de Oliveira, Matheus Fernandes

“…Basal ganglia calcifications (BGC) may be present in various medical conditions, such as infections, metabolic, psychiatric and neurological diseases,…”
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Calcitriol Reverses the Down-Regulation Pattern of Tuberous Sclerosis Complex Genes in an In Vitro Calcification Model by dos Santos Junior, Eraldo Fonseca, de Lemos Gitirana, Roberta Rodrigues, Bezerra, Darlene Paiva, de Oliveira, João Ricardo Mendes

“…Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome with autosomal dominant inheritance, and most of the cases are related to loss of function of the…”
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Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing by David, Stéphanie, Ferreira, Joana, Quenez, Olivier, Rovelet-Lecrux, Anne, Richard, Anne-Claire, Vérin, Marc, Jurici, Snejana, Le Ber, Isabelle, Boland, Anne, Deleuze, Jean-François, Frebourg, Thierry, Mendes de Oliveira, João Ricardo, Hannequin, Didier, Campion, Dominique, Nicolas, Gaël

“…Primary brain calcification (PBC) is a dominantly inherited calcifying disorder of the brain. SLC20A2 loss-of-function variants account for the majority of…”
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Depicting Depersonalization Disorder by Mendes de Oliveira, João Ricardo, Fernandes de Oliveira, Matheus

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