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   COMT Val158Met polymorphism is associated with verbal working memory in neurofibromatosis type 1  
   
نویسنده costa d.s. ,de paula j.j. ,alvim-soares a.m. ,pereira p.a. ,malloy-diniz l.f. ,rodrigues l.o.c. ,romano-silva m.a. ,de miranda d.m.
منبع frontiers in human neuroscience - 2016 - دوره : 10 - شماره : 0
چکیده    Neurofibromatosis type i (nf1) is a neurogenetic disease marked by multiple cognitive and learning problems. genetic variants may account for phenotypic variance in nf1. here,we investigated the association between the catechol-o-methyltransferase (comt) val158met polymorphism and working memory and arithmetic performance in 50 nf1 individuals. a significant association of the comt polymorphism was observed only with verbal working memory,as measured by the backward digit-span task with an advantageous performance for met/met carriers. to study how genetic modifiers influence nf1 cognitive performance might be of importance to decrease the unpredictability of the cognitive profile among nf1 patients. © 2016 costa,de paula,alvim-soares,pereira,malloy-diniz,rodrigues,romano-silva and miranda.
کلیدواژه Arithmetic; COMT Val158Met polymorphism; Executive functions; Genetic modifiers; Neurofibromatosis type I; Neuropsychology; Working memory
آدرس school of medicine,federal university of minas gerais,belo horizonte, Brazil, school of medicine,federal university of minas gerais,belo horizonte,brazil,department of psychology,faculty of medical sciences of minas gerais,belo horizonte, Brazil, jr.,school of medicine,federal university of minas gerais,belo horizonte, Brazil, school of medicine,federal university of minas gerais,belo horizonte, Brazil, department of psychiatry,school of medicine,federal university of minas gerais,belo horizonte,brazil,national institute of science and technology of molecular medicine,belo horizonte, Brazil, neurofibromatosis outpatient reference center,school of medicine,federal university of minas gerais,belo horizonte, Brazil, department of psychiatry,school of medicine,federal university of minas gerais,belo horizonte,brazil,national institute of science and technology of molecular medicine,belo horizonte, Brazil, national institute of science and technology of molecular medicine,belo horizonte,brazil,department of pediatrics,school of medicine,federal university of minas gerais,belo horizonte, Brazil
 
     
   
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