Proceedings of the Third Joint Symposium on Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation: From Benchside to Bedside
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منابع مشابه
Proceedings of the Third Joint Symposium on Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation: From Benchside to Bedside
Erythrocyte structure and function depend upon interactions between proteins in and associated with the membrane, centered around band 3. This protein harbours physiological removal signals and, as a main component of the links between the cytoskeleton and the lipid bilayer, plays a central role in deformability. Also, as a binding partner of hemoglobin and key glycolysis enzymes, band 3 is the...
متن کاملneurodegeneration with brain iron accumulation: an overview
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...
متن کاملNeurodegeneration with brain iron accumulation.
Neurodegeneration with brain iron accumulation (NBIA) describes a group of progressive extrapyramidal disorders with radiographic evidence of focal iron accumulation in the brain, usually in the basal ganglia. Patients previously diagnosed with Hallervorden-Spatz syndrome fall into this category. Mutations in the PANK2 gene account for the majority of NBIA cases and cause an autosomal recessive...
متن کاملNeurodegeneration with Brain Iron Accumulation: An Overview
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, retinal degeneration, optic atrophy often accompanied by psychiatric manifestations and cognitive decline. 8 of the 10 genetically defined NBIA types are inherited as auto...
متن کاملAn overview of Neurodegeneration with brain iron accumulation (NBIA) syndromes and the disease status in Iranian population: review article
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...
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ژورنال
عنوان ژورنال: Tremor and Other Hyperkinetic Movements
سال: 2014
ISSN: 2160-8288
DOI: 10.5334/tohm.222