scholarly article | Q13442814 |
P2093 | author name string | Eduardo Bonilla | |
Rabi Tawil | |||
Salvatore Di Mauro | |||
Michelangelo Mancuso | |||
Guido Davidzon | |||
James M Powers | |||
Roger M Kurlan | |||
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Palatal tremor and cognitive decline in neuroferritinopathy | Q43045073 | ||
The striatonigral degenerations. Putaminal pigments and nosology | Q44082200 | ||
Abnormal iron deposition associated with lipid peroxidation in transgenic mice expressing interleukin-6 in the brain | Q44193172 | ||
Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene | Q44852329 | ||
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers | Q46124789 | ||
Isoforms of ferritin have a specific cellular distribution in the brain | Q48167065 | ||
Cytochrome c oxidase deficiency in Leigh syndrome | Q48203324 | ||
Astrocytic cytoplasmic inclusions within an epileptic focus in an otherwise neurologically intact patient | Q48248259 | ||
Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies | Q48255664 | ||
A histochemical study of iron, transferrin, and ferritin in Alzheimer's diseased brains | Q48559600 | ||
Neurochemical architecture of the human striatum | Q48656419 | ||
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P433 | issue | 4 | |
P921 | main subject | pathology | Q7208 |
P304 | page(s) | 280-294 | |
P577 | publication date | 2005-04-01 | |
P1433 | published in | Journal of Neuropathology & Experimental Neurology | Q15716771 |
P1476 | title | Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights | |
P478 | volume | 64 |
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Q36274219 | A novel neuroferritinopathy mouse model (FTL 498InsTC) shows progressive brain iron dysregulation, morphological signs of early neurodegeneration and motor coordination deficits. |
Q91518831 | A unique mutation in the L ferritin coding sequence associated with low serum ferritin level in the presence of normal values of other iron parameters |
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Q34360807 | Abnormal iron metabolism in fibroblasts from a patient with the neurodegenerative disease hereditary ferritinopathy |
Q34604521 | Abnormalities of the nucleus and nuclear inclusions in neurodegenerative disease: a work in progress |
Q34036671 | Accumulation of oxidative DNA damage in brain mitochondria in mouse model of hereditary ferritinopathy |
Q37673274 | Basic mechanisms of neurodegeneration: a critical update |
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Q45975097 | Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498-499InsTC). |
Q47351811 | Detergent Insoluble Proteins and Inclusion Body-Like Structures Immunoreactive for PRKDC/DNA-PK/DNA-PKcs, FTL, NNT, and AIFM1 in the Amygdala of Cognitively Impaired Elderly Persons. |
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Q41130164 | Expression and hypoxic up-regulation of neuroglobin in human glioblastoma cells. |
Q36670692 | Expression of a mutant form of the ferritin light chain gene induces neurodegeneration and iron overload in transgenic mice |
Q36852442 | FTL mutation in a Chinese pedigree with neuroferritinopathy |
Q41836301 | Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA). |
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Q30371704 | Iron-mediated aggregation and a localized structural change characterize ferritin from a mutant light chain polypeptide that causes neurodegeneration. |
Q30530767 | Late-onset neurodegeneration with brain iron accumulation with diffusion tensor magnetic resonance imaging |
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Q90074921 | Mutant L-chain ferritins that cause neuroferritinopathy alter ferritin functionality and iron permeability |
Q24299541 | Mutant ferritin L-chains that cause neurodegeneration act in a dominant-negative manner to reduce ferritin iron incorporation |
Q64230486 | Neurodegeneration with Brain Iron Accumulation Disorders: Valuable Models Aimed at Understanding the Pathogenesis of Iron Deposition |
Q21129274 | Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms |
Q28085033 | Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism |
Q26749945 | Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management |
Q33685685 | Neuroferritinopathy: a new inborn error of iron metabolism |
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Q41825693 | Nigral iron elevation is an invariable feature of Parkinson's disease and is a sufficient cause of neurodegeneration |
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Q33685614 | Progressive brain iron accumulation in neuroferritinopathy measured by the thalamic T2* relaxation rate. |
Q34999535 | Recent advances in our understanding of neurodegeneration |
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Q36800670 | Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories. |
Q35049047 | Superoxide dismutases and superoxide reductases |
Q37949887 | Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations |
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Q24318488 | Unraveling of the E-helices and disruption of 4-fold pores are associated with iron mishandling in a mutant ferritin causing neurodegeneration |
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