(Q35018106)

5 August 2017

title

Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration (English)

1 reference

pantothenate kinase-associated neurodegeneration

5 August 2017

main subject

0 references

1 reference

9

Randall L Woltjer

1 reference

5 August 2017

Michael C Kruer

1

1 reference

5 August 2017

Mark Hiken

2

1 reference

5 August 2017

Allison Gregory

3

1 reference

5 August 2017

Alessandro Malandrini

4

1 reference

5 August 2017

David Clark

5

1 reference

5 August 2017

Penny Hogarth

6

1 reference

5 August 2017

Marjorie Grafe

7

1 reference

5 August 2017

Susan J Hayflick

8

1 reference

5 August 2017

language of work or name

English

0 references

publication date

1 April 2011

1 reference

5 August 2017

1 reference

5 August 2017

volume

134

1 reference

5 August 2017

issue

Pt 4

1 reference

5 August 2017

page(s)

947-958

1 reference

Iron-export ferroxidase activity of β-amyloid precursor protein is inhibited by zinc in Alzheimer's disease

5 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3105492

Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3105492

Pantothenate kinase-2 (Pank2) silencing causes cell growth reduction, cell-specific ferroportin upregulation and iron deregulation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3105492

The genetics of Parkinson's syndromes: a critical review

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3105492

Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3105492

Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3105492

Clinical and genetic delineation of neurodegeneration with brain iron accumulation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3105492

Nonheme-iron histochemistry for light and electron microscopy: a historical, theoretical and technical review

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3105492

Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3105492

Activation of human mitochondrial pantothenate kinase 2 by palmitoylcarnitine

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3105492

High-field magnetic resonance imaging of brain iron in Alzheimer disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3105492

Tau-predominant-associated pathology in a sporadic late-onset Hallervorden-Spatz syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3105492

Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome)

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3105492

Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3105492

Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration

8 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3105492

8 July 2018

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR042

An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3105492

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3105492

Julius Hallervorden's wartime activities: implications for science under dictatorship

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3105492

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3105492

Widespread expression of alpha-synuclein and tau immunoreactivity in Hallervorden-Spatz syndrome with protracted clinical course

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3105492

Neurodegeneration with brain iron accumulation, type 1 is characterized by alpha-, beta-, and gamma-synuclein neuropathology

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3105492

Juvenile-onset generalized neuroaxonal dystrophy (Hallervorden-Spatz disease) with diffuse neurofibrillary and lewy body pathology

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3105492

The nosology of Hallervorden-spatz disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3105492

De novo CoA biosynthesis is required to maintain DNA integrity during development of the Drosophila nervous system.

8 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR042

An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR042

Identification of axonal involvement in Hallervorden-Spatz disease with magnetic resonance spectroscopy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR042

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR042

Clinicopathological study of familial late infantile Hallervorden-Spatz disease: a particular form of neuroacanthocytosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR042

T2*-weighted MRI in diagnosis of multiple system atrophy. A practical approach for clinicians

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR042

MRI assessment of basal ganglia iron deposition in Parkinson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR042

Alpha-synuclein accumulation in a case of neurodegeneration with brain iron accumulation type 1 (NBIA-1, formerly Hallervorden-Spatz syndrome) with widespread cortical and brainstem-type Lewy bodies

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3105492

Hallervorden-Spatz syndrome

25 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21459825

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Ultrastructure and immunoreactivity of dystrophic axons indicate a different pathogenesis of Hallervorden-Spatz disease and infantile neuroaxonal dystrophy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21459825

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BRAIN/AWR042

1 reference

5 August 2017

1 reference

5 August 2017

1 reference