Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights

scientific article published in April 2005

Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1093/JNEN/64.4.280
P698PubMed publication ID15835264
P5875ResearchGate publication ID7902463

P2093author name stringEduardo Bonilla
Rabi Tawil
Salvatore Di Mauro
Michelangelo Mancuso
Guido Davidzon
James M Powers
Roger M Kurlan
P2860cites workOxygen toxicity, oxygen radicals, transition metals and diseaseQ29615096
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia diseaseQ34083035
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Familial dystonia and choreoathetosis in three generations associated with bilateral striatal necrosisQ41058061
Neuroferritinopathy: a window on the role of iron in neurodegeneration.Q42436187
Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese familyQ42485956
Palatal tremor and cognitive decline in neuroferritinopathyQ43045073
The striatonigral degenerations. Putaminal pigments and nosologyQ44082200
Abnormal iron deposition associated with lipid peroxidation in transgenic mice expressing interleukin-6 in the brainQ44193172
Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide geneQ44852329
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriersQ46124789
Isoforms of ferritin have a specific cellular distribution in the brainQ48167065
Cytochrome c oxidase deficiency in Leigh syndromeQ48203324
Astrocytic cytoplasmic inclusions within an epileptic focus in an otherwise neurologically intact patientQ48248259
Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsiesQ48255664
A histochemical study of iron, transferrin, and ferritin in Alzheimer's diseased brainsQ48559600
Neurochemical architecture of the human striatumQ48656419
Brain iron and ferritin in Parkinson's and Alzheimer's diseases.Q53184175
P433issue4
P921main subjectpathologyQ7208
P304page(s)280-294
P577publication date2005-04-01
P1433published inJournal of Neuropathology & Experimental NeurologyQ15716771
P1476titleHereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights
P478volume64

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cites work (P2860)
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