(Q43123118)

14 November 2017

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

1 reference

14 November 2017

1

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14 November 2017

6

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14 November 2017

7

Patrick F Chinnery

1 reference

14 November 2017

P Jissendi Tchofo

2

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14 November 2017

Isabelle Vuillaume

series ordinal

3

1 reference

14 November 2017

Alain Destée

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4

1 reference

14 November 2017

Stephanie Batey

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5

1 reference

14 November 2017

language of work or name

English

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publication date

14 October 2008

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14 November 2017

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14 November 2017

132

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14 November 2017

Pt 6

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14 November 2017

e109

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

14 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685918

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685918

Neuroferritinopathy in a French family with late onset dominant dystonia

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685918

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685918

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685918

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685918

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685918

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685918

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2685918

15 August 2018

Identifiers

DOI

10.1093/BRAIN/AWN274

1 reference

14 November 2017

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14 November 2017

PubMed publication ID

18854324

1 reference