Neuroferritinopathy: a new inborn error of iron metabolism (Q33685685)

28 July 2017

Neuroferritinopathy: a new inborn error of iron metabolism (English)

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28 July 2017

5

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28 July 2017

Alan Coulthard

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Patrick F. Chinnery

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4

object named as

Patrick F Chinnery

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28 July 2017

Michael J Keogh

1

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PubMed ID

22278127

28 July 2017

Patricia Jonas

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2

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28 July 2017

26 January 2012

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28 July 2017

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28 July 2017

13

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28 July 2017

1

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28 July 2017

93-96

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https://scigraph.springernature.com/pub.10.1007/s10048-011-0310-9

28 July 2017

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cites work

Genetics of neurodegeneration with brain iron accumulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038507

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038507

Abnormal iron metabolism and oxidative stress in mice expressing a mutant form of the ferritin light polypeptide gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038507

Clinical and genetic delineation of neurodegeneration with brain iron accumulation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038507

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038507

T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038507

Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038507

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038507

Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038507

Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038507

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038507

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038507

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

21 June 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0310-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0310-9

Neuroferritinopathy in a Japanese family with a duplication in the ferritin light chain gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0310-9

Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0310-9

A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: description of clinical features and implications for genotype-phenotype correlations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0310-9

Iron accumulation in syndromes of neurodegeneration with brain iron accumulation 1 and 2: causative or consequential?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0310-9

The effect of age on the non-haemin iron in the human brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0310-9

MR imaging of human brain at 3.0 T: preliminary report on transverse relaxation rates and relation to estimated iron content.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0310-9

Idebenone in Friedreich's ataxia

21 January 2018

2 references

https://api.crossref.org/works/10.1007%2FS10048-011-0310-9

21 January 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038507

Long-term improvement under deferiprone in a case of neurodegeneration with brain iron accumulation.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038507

Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038507

10.1007/S10048-011-0310-9

30 October 2018

Identifiers

DOI

1 reference

28 July 2017

1 reference

28 July 2017

1 reference

PubMed ID

22278127