(Q36854793)

16 August 2017

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

1 reference

Kailash Phatechand Bhatia

16 August 2017

1 reference

8

object named as

Kailash P Bhatia

1 reference

16 August 2017

9

Andrew J Lees

1 reference

16 August 2017

10

John Hardy

1 reference

16 August 2017

1

Coro Paisán-Ruiz

0 references

Janice Holton

4

object named as

Janice L Holton

1 reference

16 August 2017

Abi Li

2

1 reference

16 August 2017

Susanne A Schneider

3

1 reference

16 August 2017

Robert Johnson

5

1 reference

16 August 2017

Desmond Kidd

6

1 reference

16 August 2017

Jeremy Chataway

7

1 reference

16 August 2017

Tamas Revesz

11

1 reference

16 August 2017

Henry Houlden

12

1 reference

16 August 2017

21 July 2010

1 reference

16 August 2017

Neurobiology of Aging

1 reference

16 August 2017

33

1 reference

16 August 2017

4

1 reference

16 August 2017

814-823

1 reference

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657696

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=3657696

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=3657696

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657696

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=3657696

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=3657696

PLA2G6 mutation underlies infantile neuroaxonal dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657696

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=3657696

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=3657696

Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657696

Colocalization of Tau and Alpha-Synuclein Epitopes in Lewy Bodies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657696

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=3657696

Staging of brain pathology related to sporadic Parkinson's 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=3657696

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=3657696

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=3657696

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657696

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657696

Atypical dopa responsive parkinsonism in a patient with megalencephaly, midbrain Lewy body disease, and some pathological features of 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=3657696

Adult-onset neurodegeneration with brain iron accumulation and cortical alpha-synuclein and tau pathology: a distinct 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=3657696

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=3657696

Neuropathological Conditions Related to Neuroaxonal Dystrophy

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657696

An autopsied case of juvenile parkinsonism and dementia, with a widespread occurrence of Lewy bodies and spheroids

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657696

The progression of pathology in longitudinally followed patients with Parkinson's 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=3657696

Pantothenate kinase 2 mutation without 'eye-of-the-tiger' sign

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657696

MR relaxometry and 1H MR spectroscopy for the determination of iron and metabolite concentrations in PKAN patients

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657696

Novel antibodies to synuclein show abundant striatal pathology in Lewy body diseases

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657696

The eye-of-the-tiger sign.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657696

Diagnosis of Hallervorden-Spatz disease using MRI, (123)I-beta-CIT-SPECT and (123)I-IBZM-SPECT.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657696

Lewy body in neurodegeneration with brain iron accumulation type 1 is immunoreactive for alpha-synuclein

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657696

Neuroaxonal dystrophy combined with diffuse Lewy body disease in a young adult.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657696

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657696

20 October 2018

1 reference

12 December 2020

[Precocious Parkinson's disease associated with "eye-of-the-tiger" type pallidal lesions]

1 reference

PubMed

12 December 2020

Alpha-synuclein immunoreactivity is present in axonal swellings in neuroaxonal dystrophy and acute traumatic brain injury

1 reference

PubMed

12 December 2020

R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family

1 reference

PubMed

12 December 2020

10.1016/J.NEUROBIOLAGING.2010.05.009

Identifiers

DOI

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

20619503

1 reference