Neurodegeneration with brain iron accumulation: a diagnostic algorithm (Q34281943)

1 August 2017

Neurodegeneration with brain iron accumulation: a diagnostic algorithm (English)

1 reference

neurodegeneration with brain iron accumulation

1 August 2017

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2

Nathalie Boddaert

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author name string

Michael C Kruer

series ordinal

1

1 reference

PubMed ID

22704259

1 August 2017

language of work or name

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1 June 2012

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Seminars in pediatric neurology

1 August 2017

1 reference

1 August 2017

19

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1 August 2017

2

1 reference

1 August 2017

67-74

1 reference

Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381651

Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381651

Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381651

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381651

Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381651

Visual system involvement in patients with Friedreich's ataxia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381651

Decreased T2 signal in the thalami may be a sign of lysosomal storage disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381651

Neuroferritinopathy in a French family with late onset dominant dystonia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381651

Aceruloplasminemia, an inherited disorder of iron metabolism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381651

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381651

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381651

Ferritinopathy: diagnosis by muscle or nerve biopsy, with a note on other nuclear inclusion body diseases.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381651

Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381651

Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381651

Increased iron in the dentate nucleus of patients with Friedrich's ataxia.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381651

Increased basal ganglia iron levels in Huntington disease

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381651

The eye of the tiger sign in cortical-basal ganglionic degeneration.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381651

Eye of the tiger sign in multiple system atrophy

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22704259

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The measurement of R2, R2* and R2' in HIV-infected patients using the prime sequence as a measure of brain iron deposition

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22704259

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.SPEN.2012.04.001

1 reference

1 August 2017

1 reference

1 August 2017

1 reference

PubMed ID

22704259