(Q47813038)

5 February 2018

title

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

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5 February 2018

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Michelangelo Mancuso

1

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5 February 2018

Guido Davidzon

2

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5 February 2018

Roger M Kurlan

3

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5 February 2018

Rabi Tawil

4

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5 February 2018

Eduardo Bonilla

5

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5 February 2018

Salvatore Di Mauro

6

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5 February 2018

James M Powers

7

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5 February 2018

publication date

1 April 2005

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5 February 2018

Journal of Neuropathology & Experimental Neurology

published in

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5 February 2018

volume

64

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5 February 2018

issue

4

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5 February 2018

page(s)

280-294

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5 February 2018

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

cites work

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.4.280

Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.4.280

Cytochrome c oxidase deficiency in Leigh syndrome.

21 January 2018

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https://api.crossref.org/works/10.1093%2FJNEN%2F64.4.280

Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.4.280

Astrocytic cytoplasmic inclusions within an epileptic focus in an otherwise neurologically intact patient.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.4.280

Brain iron and ferritin in Parkinson's and Alzheimer's diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.4.280

A histochemical study of iron, transferrin, and ferritin in Alzheimer's diseased brains.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.4.280

Late onset familial dystonia: could mitochondrial deficits induce a diffuse lesioning process of the whole basal ganglia system?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.4.280

Palatal tremor and cognitive decline in neuroferritinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.4.280

Neuroferritinopathy in a French family with late onset dominant dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.4.280

Neuroferritinopathy: a window on the role of iron in neurodegeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.4.280

Neurodegeneration caused by proteins with an aberrant carboxyl-terminus

21 January 2018

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https://api.crossref.org/works/10.1093%2FJNEN%2F64.4.280

Neurochemical architecture of the human striatum.

21 January 2018

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https://api.crossref.org/works/10.1093%2FJNEN%2F64.4.280

Familial dystonia and choreoathetosis in three generations associated with bilateral striatal necrosis

21 January 2018

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https://api.crossref.org/works/10.1093%2FJNEN%2F64.4.280

Pathogenesis of primary defects in mitochondrial ATP synthesis.

21 January 2018

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https://api.crossref.org/works/10.1093%2FJNEN%2F64.4.280

The striatonigral degenerations. Putaminal pigments and nosology

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.4.280

Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.4.280

Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.4.280

Carbon monoxide: a putative neural messenger

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.4.280

Isoforms of ferritin have a specific cellular distribution in the brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.4.280

Oxygen toxicity, oxygen radicals, transition metals and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.4.280

Abnormal iron deposition associated with lipid peroxidation in transgenic mice expressing interleukin-6 in the brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.4.280

The metabolism of neuronal iron and its pathogenic role in neurological disease: review

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.4.280

21 January 2018

Identifiers

DOI

10.1093/JNEN/64.4.280

1 reference

5 February 2018

PubMed ID

15835264

1 reference

5 February 2018