Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia (Q24297970)

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English	Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia	scientific article

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instance of

scholarly article

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title

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia (English)

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main subject

Proline rich transmembrane protein 2

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stated in

GOA release 2020-03-11

neuromuscular process controlling posture

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stated in

GOA release 2020-03-11

Proline-rich transmembrane protein 2

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stated in

GOA release 2020-03-11

dyskinesia

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based on heuristic

inferred from title

author name string

Wan-Jin Chen

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1

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Yu Lin

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2

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Zhi-Qi Xiong

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3

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Wei Wei

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4

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Wang Ni

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5

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Guo-He Tan

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6

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Shun-Ling Guo

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7

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Jin He

series ordinal

8

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Ya-Fang Chen

series ordinal

9

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Qi-Jie Zhang

series ordinal

10

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Hong-Fu Li

series ordinal

11

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Yi Lin

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12

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Shen-Xing Murong

series ordinal

13

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Jianfeng Xu

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14

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Ning Wang

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15

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Zhi-Ying Wu

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16

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language of work or name

English

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publication date

December 2011

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published in

Nature Genetics

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volume

43

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issue

12

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page(s)

1252-5

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cites work

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

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20 April 2017

SIFT: Predicting amino acid changes that affect protein function

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20 April 2017

Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria

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21 January 2018

Familial and acquired paroxysmal dyskinesias. A proposed classification with delineation of clinical features

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reference URL

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21 January 2018

Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.

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21 January 2018

Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies

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21 January 2018

A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16.

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21 January 2018

Disorders of membrane channels or channelopathies

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21 January 2018

SNP detection for massively parallel whole-genome resequencing

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21 January 2018

Parametric and nonparametric linkage analysis: a unified multipoint approach

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/22101681

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paroxysmal kinesigenic choreoathetosis: An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/22101681

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/22101681

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/22101681

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Conditional Deletion of NRSF in Forebrain Neurons Accelerates Epileptogenesis in the Kindling Model

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/22101681

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Episodic movement disorders as channelopathies

2 references

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/22101681

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG.1008

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation and copy number analysis in paroxysmal kinesigenic dyskinesia families

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/22101681

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/NG.1008

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1657251

Dimensions Publication ID

1024201921

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OpenCitations bibliographic resource ID

1657251

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1657251

PubMed publication ID

22101681

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1657251

ResearchGate publication ID

51815896

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