(Q34244090)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213678%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

PLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease (English)

1 reference

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19 January 2020

1 reference

parkinsonian syndrome

1 reference

3

1 reference

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19 January 2020

author name string

Chin-Song Lu

1

1 reference

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19 January 2020

Szu-Chia Lai

2

1 reference

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19 January 2020

Yi-Hsin Weng

4

1 reference

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19 January 2020

Chia-Ling Huang

5

1 reference

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19 January 2020

Rou-Shayn Chen

6

1 reference

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19 January 2020

Hsiu-Chen Chang

7

1 reference

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19 January 2020

Yah-Huei Wu-Chou

8

1 reference

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19 January 2020

Tu-Hsueh Yeh

9

1 reference

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19 January 2020

publication date

27 December 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213678%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

19 January 2020

published in

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19 January 2020

volume

159B

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19 January 2020

issue

2

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19 January 2020

page(s)

183-191

1 reference

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Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study

19 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32012

Prediction of human mRNA donor and acceptor sites from the DNA sequence.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32012

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32012

Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32012

Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32012

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32012

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32012

Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32012

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32012

The parkinsonian phenotype of spinocerebellar ataxia type 3 in a Taiwanese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32012

The parkinsonian phenotype of spinocerebellar ataxia type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32012

Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32012

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32012

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32012

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32012

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/10.1002%2FAJMG.B.32012

Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32012

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32012

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32012

PLA2G6 mutations and Parkinson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32012

PINK1 mutation in Taiwanese early-onset parkinsonism : clinical, genetic, and dopamine transporter studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32012

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32012

Statistical features of human exons and their flanking regions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32012

21 January 2018

Identifiers

DOI

10.1002/AJMG.B.32012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213678%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference