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Joubert syndrome: large clinical variability and a unique neuroimaging aspect
(Academia Brasileira de Neurologia - ABNEURO, 2010)
Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g, pigmentary retinopathy, oculomotor apraxia and nystagmus), renal cysts ...
Language, behavior and neurodevelopment in Joubert syndrome: A case report
(2016-01-01)
The Joubert syndrome (JS) is a rare, heterogeneous genetic condition among the ciliopathies. More than 20 genes have been identified associated with this phenotype. The main manifestations include hypotonia, ataxia, ...
Síndrome de joubert asociado a apnea central del sueño en un adulto de colombia
(Fundacion para la difusion neurologica en Ecuador - FUNDINERevista Ecuatoriana de Neurologia, 2021)
Introducción: El síndrome de Joubert es una ciliopatía de transmisión autosómica recesiva. Las cilias primarias cumplen
funciones en la proliferación neuronal, migración axonal en cerebelo y tallo cerebral. Marie Joubert ...
Manifestações renais na síndrome de Joubert
(Sociedade de Pediatria de São Paulo, 2009-06-01)
OBJECTIVE:To describe the case of a patient with Joubert syndrome associated with renal impairments. CASE DESCRIPTION: A 2 month-old patient was admitted with hypotonia and hyperpneia. At the physical exam, besides irregular ...
The molar tooth sign and the bat wing appearance in Joubert syndrome
(HCPA/FAMED/UFRGS, 2018)
The Molecular Motor Myosin Va Interacts With The Cilia-centrosomal Protein Rpgrip1l
(Nature Publishing GroupLondon, 2017)
Effects of Salvia hispanica L. (chia) seed on blood coagulation, endothelial dysfunction and liver fibrosis in an experimental model of Metabolic Syndrome
(Royal Society of Chemistry, 2021-12)
The aim of this study was to analyze blood coagulation, endothelial dysfunction and liver fibrosis in an experimental model of Metabolic Syndrome (MS) induced by chronic administration of a sucrose-rich diet (SRD) and to ...
Barreiras e facilitadores para adesão de adultos e idosos brasileiros às medidas de prevenção e controle da covid-19 e outras doenças respiratórias agudas: um estudo qualitativo
(Universidade Federal do Rio Grande do NorteBrasilUFRNFisioterapiaCentro de Ciências da Saúde, 2022-07-07)
Objective: To identify, synthesize and classify the main barriers and facilitators reported by the Brazilian population using theoretical bases of human behavior in relation to health. Methods: This is a qualitative ...
Autism associated to a deficiency of complexes III and IV of the mitochondrial respiratory chain.
(Universidad del Zulia, 2013)