Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration - Wikidata - awgldk - TriplyDB

Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration

Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration

http://www.wikidata.org/entity/Q35018106

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Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms The genetics and neuropathology of Parkinson's disease Differences in globus pallidus neuronal firing rates and patterns relate to different disease biology in children with dystonia.Neurodegeneration with brain iron accumulation: diagnosis and management The role of iron in brain ageing and neurodegenerative disorders.Neurodegeneration with Brain Iron Accumulation: Clinicoradiological Approach to Diagnosis.A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir - India Large-scale functional RNAi screen in C. elegans identifies genes that regulate the dysfunction of mutant polyglutamine neurons.Brain, blood, and iron: perspectives on the roles of erythrocytes and iron in neurodegeneration.Identification of mineral deposits in the brain on radiological images: a systematic review.The pallidopyramidal syndromes: nosology, aetiology and pathogenesis.Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.Knock-down of pantothenate kinase 2 severely affects the development of the nervous and vascular system in zebrafish, providing new insights into PKAN disease Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus.Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans.New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories.β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.Pantothenate kinase-associated neurodegeneration is not a synucleinopathy Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features.Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.Neuroimaging features of neurodegeneration with brain iron accumulation.Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations.Clinicopathological review of pallidonigroluysian atrophy.Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA).Pathophysiology and treatment of neurodegeneration with brain iron accumulation in the pediatric population.Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes.The neuropathology of neurodegeneration with brain iron accumulation.Defective pantothenate metabolism and neurodegeneration.Alteration of the coenzyme A biosynthetic pathway in neurodegeneration with brain iron accumulation syndromes.iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease Subthalamic Nuclei Stimulation in Patients With Pantothenate Kinase-Associated Neurodegeneration (PKAN).Impaired Coenzyme A metabolism affects histone and tubulin acetylation in Drosophila and human cell models of pantothenate kinase associated neurodegeneration.Deep brain stimulation in the globus pallidus compensates response inhibition deficits: evidence from pantothenate kinase-associated neurodegeneration.Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).Brain iron quantification by MRI in mitochondrial membrane protein-associated neurodegeneration under iron-chelating therapy.Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients.Identification of Novel Compound Mutations in PLA2G6-Associated Neurodegeneration Patient with Characteristic MRI Imaging.Zebrafish as an Animal Model for Drug Discovery in Parkinson's Disease and Other Movement Disorders: A Systematic Review.

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Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration

http://www.wikidata.org/entity/Q35018106

description

2011 nî lūn-bûn

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2011 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2011 թվականի ապրիլին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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Novel histopathologic findings ...... e-associated neurodegeneration

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Novel histopathologic findings ...... e-associated neurodegeneration

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Novel histopathologic findings ...... e-associated neurodegeneration

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Novel histopathologic findings ...... e-associated neurodegeneration

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Novel histopathologic findings ...... e-associated neurodegeneration

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Novel histopathologic findings ...... e-associated neurodegeneration

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Alessandro Malandrini

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Allison Gregory

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David Clark

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Marjorie Grafe

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Mark Hiken

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Michael C Kruer

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Penny Hogarth

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P2860

Iron-export ferroxidase activity of β-amyloid precursor protein is inhibited by zinc in Alzheimer's disease

An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome

Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration

Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2

Clinical and genetic delineation of neurodegeneration with brain iron accumulation

An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria

High-field magnetic resonance imaging of brain iron in Alzheimer disease.

Widespread expression of alpha-synuclein and tau immunoreactivity in Hallervorden-Spatz syndrome with protracted clinical course.

Julius Hallervorden's wartime activities: implications for science under dictatorship.

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947-958

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10.1093/BRAIN/AWR042

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Pt 4

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134

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Randall L Woltjer

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2011-04-01T00:00:00Z

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50988773

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21459825

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pantothenate kinase-associated neurodegeneration

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