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

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PLA2G6-associated neurodegeneration

18 March 2020

main subject

1 reference

1 reference

7

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18 March 2020

Zhongsheng Sun

8

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18 March 2020

Tao Cai

11

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18 March 2020

author name string

Sen Guo

1

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18 March 2020

Liu Yang

2

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18 March 2020

Huijie Liu

3

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18 March 2020

Wei Chen

4

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18 March 2020

Jinchen Li

5

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18 March 2020

Ping Yu

6

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18 March 2020

Xiang Chen

9

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18 March 2020

Jie Du

10

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18 March 2020

publication date

9 July 2016

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18 March 2020

published in

Molecular Neurobiology

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18 March 2020

volume

54

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18 March 2020

issue

6

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18 March 2020

page(s)

4636-4643

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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

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

21 January 2018

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

21 January 2018

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Characterization of PLA2G6 as a locus for dystonia-parkinsonism

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Clinical and genetic delineation of neurodegeneration with brain iron accumulation

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms

21 January 2018

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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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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Neurodegeneration with brain iron accumulation - clinical syndromes and neuroimaging

21 January 2018

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

21 January 2018

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

21 January 2018

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Neurodegeneration with brain iron accumulation: diagnosis and management

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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