(Q28114901)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study (English)

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

Coiled-coil-helix-coiled-coil-helix domain containing 2

1 reference

GOA release 2020-03-11

author

Manabu Funayama

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Kaoru Mogushi

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Kinji Ohno

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

author name string

Kenji Ohe

2

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Taku Amo

3

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Norihiko Furuya

4

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Junji Yamaguchi

5

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Shinji Saiki

6

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Yuanzhe Li

7

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Kotaro Ogaki

8

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Maya Ando

9

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Hiroyo Yoshino

10

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Hiroyuki Tomiyama

11

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Kenya Nishioka

12

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Kazuko Hasegawa

13

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Hidemoto Saiki

14

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Wataru Satake

15

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Ryogen Sasaki

17

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Yasumasa Kokubo

18

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Shigeki Kuzuhara

19

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Tatsushi Toda

20

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Yasuo Uchiyama

22

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Yoshikuni Mizuno

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Nobutaka Hattori

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

publication date

4 February 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

volume

14

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

page(s)

274-282

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

issue

3

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

Familial aggregation of Parkinson's disease in a multiethnic community-based case-control study

29 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970266-2

7 January 2021

The genetics of Parkinson's disease: progress and therapeutic implications

1 reference

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7 January 2021

Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970266-2

7 January 2021

DNAJC13 mutations in Parkinson disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970266-2

7 January 2021

Slowing of neurodegeneration in Parkinson's disease and Huntington's disease: future therapeutic perspectives

1 reference

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7 January 2021

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

1 reference

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7 January 2021

SNP HiTLink: a high-throughput linkage analysis system employing dense SNP data

1 reference

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7 January 2021

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

1 reference

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7 January 2021

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

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7 January 2021

The Sequence Alignment/Map format and SAMtools

1 reference

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7 January 2021

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970266-2

7 January 2021

hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970266-2

7 January 2021

HMGA1a trapping of U1 snRNP at an authentic 5' splice site induces aberrant exon skipping in sporadic Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970266-2

7 January 2021

Statistical power and significance testing in large-scale genetic studies

1 reference

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7 January 2021

Large-scale East-Asian eQTL mapping reveals novel candidate genes for LD mapping and the genomic landscape of transcriptional effects of sequence variants

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970266-2

7 January 2021

A method and server for predicting damaging missense mutations

1 reference

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7 January 2021

MutationTaster evaluates disease-causing potential of sequence alterations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970266-2

7 January 2021

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970266-2

7 January 2021

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970266-2

7 January 2021

In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970266-2

7 January 2021

Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970266-2

7 January 2021

MNRR1 (formerly CHCHD2) is a bi-organellar regulator of mitochondrial metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970266-2

7 January 2021

A computational screen for regulators of oxidative phosphorylation implicates SLIRP in mitochondrial RNA homeostasis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970266-2

7 January 2021

Systematic analysis of the twin cx(9)c protein family.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970266-2

7 January 2021

Revisiting the relationship between essential tremor and Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970266-2

7 January 2021

A family with Parkinsonism, essential tremor, restless legs syndrome, and depression.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970266-2

7 January 2021

Early transcriptional changes linked to naturally occurring Huntington's disease mutations in neural derivatives of human embryonic stem cells.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970266-2

7 January 2021

Oxygen-dependent expression of cytochrome c oxidase subunit 4-2 gene expression is mediated by transcription factors RBPJ, CXXC5 and CHCHD2

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970266-2

7 January 2021

PINK1 is activated by mitochondrial membrane potential depolarization and stimulates Parkin E3 ligase activity by phosphorylating Serine 65

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970266-2

7 January 2021

Ubiquitin is phosphorylated by PINK1 to activate parkin

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970266-2

7 January 2021

The ubiquitin-proteasome system regulates mitochondrial intermembrane space proteins

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970266-2

7 January 2021

10.1016/S1474-4422(14)70266-2

Identifiers

DOI

2 references

Consolidated OpenCitations Corpus – April 2017

5474

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25662902%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

5474

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

5474