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how to cite this article: tonekaboni sh, mollamohammadi m. neurodegeneration with brain iron accumulation: an overview. iran j child neurol. 2014 autumn;8(4): 1-8. abstract objective neurodegeneration with brain iron accumulation (nbia) is a group of neurodegenerative disorder with deposition of iron in the brain (mainly basal ganglia) leading to a progressive parkinsonism, spasticity, dystonia...
Huntington's disease like phenotype: new data from Brazil and what we know between heaven and earth.
Editorial Huntington's disease like phenotype New data from Brazil and what we know between heaven and earth. Huntington's disease (HD) is an auto-somal dominant neurodegenerative disorder , characterized by involuntary movements , predominantly chorea, associated to behavioral and cognitive impairment 1,2. HD is caused by expansion of a CAG repeat in the coding region of the IT15 gene located ...
Neurodegeneration with brain iron accumulation (NBIA) is a rare set of inherited neurodegenerative disorders with abnormal accumulation of iron in basal ganglia. It is a clinically and genetically heterogeneous disorder that is characterized by movement disorders, dystonia, dysarthria, Parkinsonism, intellectual disability, and spasticity. The age at onset varies from childhood to adulthood and...
‘Neurodegeneration with brain iron accumulation’ (NBIA) is a clinically and genetically heterogeneous group of disorders presenting with progressive extrapyramidal dysfunction, and as a common feature, with brain iron deposition in the basal ganglia, particularly in the globus pallidus and substantia nigra (Gregory and Hayflick, 2013a). Over recent years an increasing number of mutations in nov...
Neuroacanthocytosis syndromes are characterized by the presence of “thorny” red blood cells and neurodegeneration of the basal ganglia, along with peripheral neuromuscular findings, seizures, and a variety of neuropsychiatric features. In recent years significant progress has been made in understanding the molecular pathophysiology of these disorders; cases are now identified as autosomal reces...
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