(Q48631848)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27395053%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

title

Identification of Novel Compound Mutations in PLA2G6-Associated Neurodegeneration Patient with Characteristic MRI Imaging (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27395053%20AND%20SRC:MED&resulttype=core&format=json

PLA2G6-associated neurodegeneration

18 March 2020

main subject

1 reference

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27395053%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Zhongsheng Sun

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27395053%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Tao Cai

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27395053%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

author name string

Sen Guo

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27395053%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Liu Yang

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27395053%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Huijie Liu

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27395053%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Wei Chen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27395053%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Jinchen Li

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27395053%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Ping Yu

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27395053%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Xiang Chen

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27395053%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Jie Du

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27395053%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

publication date

9 July 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27395053%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

published in

Molecular Neurobiology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27395053%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

volume

54

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27395053%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27395053%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

page(s)

4636-4643

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27395053%20AND%20SRC:MED&resulttype=core&format=json

Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes

18 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS12035-016-9991-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-016-9991-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-016-9991-2

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-016-9991-2

Clinical and genetic delineation of neurodegeneration with brain iron accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-016-9991-2

Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-016-9991-2

Lysosomal storage disease in the brain: mutations of the β-mannosidase gene identified in autosomal dominant nystagmus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-016-9991-2

mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-016-9991-2

Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-016-9991-2

PLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-016-9991-2

The genomic organization, complete mRNA sequence, cloning, and expression of a novel human intracellular membrane-associated calcium-independent phospholipase A(2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-016-9991-2

A novel cytosolic calcium-independent phospholipase A2 contains eight ankyrin motifs

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-016-9991-2

The human calcium-independent phospholipase A2 gene multiple enzymes with distinct properties from a single gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-016-9991-2

Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-016-9991-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-016-9991-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-016-9991-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-016-9991-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-016-9991-2

Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-016-9991-2

Neurodegeneration with brain iron accumulation - clinical syndromes and neuroimaging

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-016-9991-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-016-9991-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-016-9991-2

Neurodegeneration with brain iron accumulation: diagnosis and management

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-016-9991-2

PLA2G6 gene mutation in autosomal recessive early-onset parkinsonism in a Chinese cohort

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-016-9991-2

Four novel rare mutations of PLA2G6 in Chinese population with Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-016-9991-2

Association between PLA2G6 gene polymorphisms and Parkinson's disease in the Chinese Han population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-016-9991-2

Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27395053

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S12035-016-9991-2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27395053%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

1 reference