(Q37016212)

17 August 2017

Pantothenate kinase-associated neurodegeneration is not a synucleinopathy (English)

1 reference

pantothenate kinase-associated neurodegeneration

17 August 2017

0 references

1 reference

1 reference

5

A J Lees

1 reference

17 August 2017

7

J Hardy

1 reference

17 August 2017

6

J L Holton

1 reference

17 August 2017

A Li

1

1 reference

17 August 2017

R Paudel

2

1 reference

17 August 2017

R Johnson

3

1 reference

17 August 2017

R Courtney

4

1 reference

17 August 2017

T Revesz

8

1 reference

17 August 2017

H Houlden

9

1 reference

17 August 2017

1 February 2013

1 reference

Neuropathology and Applied Neurobiology

17 August 2017

1 reference

17 August 2017

39

1 reference

17 August 2017

2

1 reference

17 August 2017

121-131

1 reference

Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

Transmission and spreading of tauopathy in transgenic mouse brain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

Clinical and genetic delineation of neurodegeneration with brain iron accumulation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

Neurodegeneration associated with genetic defects in phospholipase A(2).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

Principles of bioactive lipid signalling: lessons from sphingolipids

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

Hallervorden spatz disease: MR and pathological findings of a rare case

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

Alpha-synuclein and the Lewy body disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

Hallervorden-Spatz syndrome: clinical and magnetic resonance imaging correlations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

Adult onset Hallervorden-Spatz disease with neurofibrillary pathology. A discrete clinicopathological entity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

Psychiatric disorder in two siblings with hallervorden-spatz disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

Widespread occurrence of alpha-synuclein/NACP-immunoreactive neuronal inclusions in juvenile and adult-onset Hallervorden-Spatz disease with Lewy bodies

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

Hallervorden-Spatz disease and infantile neuroaxonal dystrophy. Ultrastructural observations, anatomical pathology and nosology.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

MR imaging of a group I case of Hallervorden-Spatz disease.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

Neuroaxonal dystrophy caused by group VIA phospholipase A2 deficiency in mice: a model of human neurodegenerative disease.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

Psychotic disorder in a case with Hallervorden–Spatz disease

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

Hallervorden-Spatz disease: MR and pathologic findings.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

Neuroaxonal dystrophy with neuromelanin deposition, neurofibrillary tangles, and neuronal loss. Light- and electron-microscopic changes in a 45-year-old woman with progressive psychomotor deterioration.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

Superficial siderosis of the central nervous system. A report on nine cases with autopsy.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712463

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

4 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01269.X

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=3712463

Superficial Siderosis of the Central Nervous System Presenting with Longstanding Deafness

20 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22416811

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/22416811

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/J.1365-2990.2012.01269.X

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

22416811

1 reference