(Q33722781)

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PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PLA2G6-associated neurodegeneration

1 reference

based on heuristic

inferred from title

neurodegeneration

1 reference

based on heuristic

inferred from title

author name string

M A Illingworth

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

E Meyer

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

W K Chong

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

A Y Manzur

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

L J Carr

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

R Younis

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

C Hardy

7

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

F McDonald

8

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

A M Childs

9

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

B Stewart

10

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

D Warren

11

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

R Kneen

12

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

M D King

13

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

S J Hayflick

14

1 reference

Europe PubMed Central

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28 July 2017

M A Kurian

15

1 reference

Europe PubMed Central

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28 July 2017

publication date

29 March 2014

1 reference

Europe PubMed Central

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28 July 2017

Molecular Genetics and Metabolism

1 reference

Europe PubMed Central

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28 July 2017

112

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

183-189

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Extensive aggregation of α-synuclein and tau in juvenile-onset neuroaxonal dystrophy: an autopsied individual with a novel mutation in the PLA2G6 gene-splicing site

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048546

21 June 2018

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048546

21 June 2018

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048546

21 June 2018

Mitochondria, oxidative stress and neurodegeneration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048546

21 June 2018

Severe disturbance in the Ca2+ signaling in astrocytes from mouse models of human infantile neuroaxonal dystrophy with mutated Pla2g6

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048546

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048546

21 June 2018

Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048546

21 June 2018

Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048546

21 June 2018

Establishment of an improved mouse model for infantile neuroaxonal dystrophy that shows early disease onset and bears a point mutation in Pla2g6.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048546

21 June 2018

Clinical and genetic delineation of neurodegeneration with brain iron accumulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048546

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048546

21 June 2018

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048546

21 June 2018

Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048546

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048546

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048546

21 June 2018

Cellular regulation and proposed biological functions of group VIA calcium-independent phospholipase A2 in activated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048546

21 June 2018

Multiple splice variants of the human calcium-independent phospholipase A2 and their effect on enzyme activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048546

21 June 2018

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048546

30 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4048546

30 October 2018

Neuroaxonal dystrophy in calcium-independent phospholipase A2β deficiency results from insufficient remodeling and degeneration of mitochondrial and presynaptic membranes

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.008

7 January 2021

Identifiers

10.1016/J.YMGME.2014.03.008

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

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