A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation (Q33723799)

28 July 2017

A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation (English)

1 reference

28 July 2017

Katsuya Nishida

1

1 reference

28 July 2017

Holly J Garringer

2

1 reference

28 July 2017

Naonobu Futamura

3

1 reference

28 July 2017

Itaru Funakawa

4

1 reference

28 July 2017

Kenji Jinnai

5

1 reference

28 July 2017

Ruben Vidal

6

1 reference

28 July 2017

Masaki Takao

7

1 reference

28 July 2017

language of work or name

English

0 references

publication date

12 April 2014

1 reference

Journal of the Neurological Sciences

28 July 2017

5

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

28 July 2017

342

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28 July 2017

1-2

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28 July 2017

173-177

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Abnormal iron homeostasis and neurodegeneration

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048789

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048789

Neuroferritinopathy: a new inborn error of iron metabolism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048789

MRI findings in neuroferritinopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048789

The man who could not walk backward: an unusual presentation of neuroferritinopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048789

Unraveling of the E-helices and disruption of 4-fold pores are associated with iron mishandling in a mutant ferritin causing neurodegeneration

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048789

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=4048789

CSF iron, ferritin and transferrin levels in restless legs 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=4048789

Neuroferritinopathy in a French family with late onset dominant dystonia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048789

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=4048789

De novo FTL mutation: a clinical, neuroimaging, and molecular study.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048789

Dramatic response of facial stereotype/tic to tetrabenazine in the first reported cases of neuroferritinopathy in the United States

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048789

Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498-499InsTC).

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048789

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048789

Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL 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=4048789

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048789

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=4048789

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048789

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048789

Palatal tremor and cognitive decline in neuroferritinopathy

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048789

The “eye of the tiger” sign in pure akinesia with gait freezing

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048789

Spectrum of movement disorders in neuroferritinopathy

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048789

Abnormalities in CSF concentrations of ferritin and transferrin in restless legs syndrome

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24825732

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24825732

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.JNS.2014.03.060

1 reference

28 July 2017

1 reference

28 July 2017

1 reference