New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations (Q27304506)

9

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Richard J Rodenburg

object named as

Richard J Rodenburg

14

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Mustafa A. Salih

object named as

Mustafa A Salih

1

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Giovanni Stevanin

object named as

Giovanni Stevanin

18

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author name string

Emeline Mundwiller

2

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Arif O Khan

3

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Abdulmajeed AlDrees

4

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Salah A Elmalik

5

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Hamdy H Hassan

6

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Mohammed Al-Owain

7

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Hisham M S Alkhalidi

8

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Mohammad M Kabiraj

10

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Amal Y Kentab

12

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Hamad Alzaidan

13

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Thomas M Bosley

15

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Joachim Weis

16

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Michel Koenig

17

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Hamid Azzedine

Creative Commons Attribution 4.0 International

19

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language of work or name

English

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publication date

2013

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published in

PLOS One

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volume

8

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issue

10

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page(s)

e76831

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copyright license

start time

9 October 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Functional neuroanatomy of the noradrenergic locus coeruleus: its roles in the regulation of arousal and autonomic function part II: physiological and pharmacological manipulations and pathological alterations of locus coeruleus activity in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792983

Autism, fever, epigenetics and the locus coeruleus

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792983

Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792983

Genetic ablation of PLA2G6 in mice leads to cerebellar atrophy characterized by Purkinje cell loss and glial cell activation

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792983

Clinical and genetic delineation of neurodegeneration with brain iron accumulation

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792983

Allegro, a new computer program for multipoint linkage analysis

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792983

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792983

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792983

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792983

Protection of pancreatic beta-cells by group VIA phospholipase A(2)-mediated repair of mitochondrial membrane peroxidation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792983

The brainstem noradrenergic systems in stress, anxiety and depression

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792983

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792983

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792983

Infantile neuroaxonal dystrophy: what's most important for the diagnosis?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792983

PLA2G6 mutation underlies infantile neuroaxonal dystrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792983

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792983

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792983

Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792983

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792983

Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy.

31 May 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0076831

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/10.1371%2FJOURNAL.PONE.0076831

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0076831

Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0076831

Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0076831

The Salih ataxia mutation impairs Rubicon endosomal localization.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792983

Reduced mitochondrial density in the vastus lateralis muscle of patients with COPD

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3792983

Friedreich's ataxia in 13 children: presentation and evolution with neurophysiologic, electrocardiographic, and echocardiographic features

28 November 2018

1 reference

12 December 2020

Novel mutations in siblings with later-onset PLA2G6-associated neurodegeneration (PLAN)

1 reference

12 December 2020

Peripheral motor and sensory nerve conduction studies in normal infants and children

1 reference

12 December 2020

Metabolism of glycerolipids. 2. The enzymatic acylation of lysolecithin

1 reference

12 December 2020

Nerve conduction changes and fine structural alterations of extra- and intrafusal muscle and nerve fibers in streptozotocin diabetic rats

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0076831

Identifiers

DOI

1 reference

ADS bibcode

2013PLoSO...876831S

0 references

1 reference

1 reference

PubMed publication ID

24130795

1 reference