(Q28118169)

26 June 2017

title

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor (English)

1 reference

Teneurin transmembrane protein 4

26 June 2017

main subject

1 reference

GOA release 2020-03-11

neuron development

1 reference

Xavier Estivill i Pallejà

GOA release 2020-03-11

1 reference

1 reference

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Roman Chrast

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Oswaldo Lorenzo Betancor

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Alexandre Gironell

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Oliver Drechsel

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

José Agundez

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Elena García-Martín

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Stephan Ossowski

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Pau Pastor

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Hortensia Alonso-Navarro

17

object named as

Hortensia Alonso-Navarro

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

4

Sara Ortega-Cubero

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

author name string

Hyun Hor

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Ludmila Francescatto

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Maria Kousi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Jordi Clarimón

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Daniela Kenzelmann Broz

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Ruth Chiquet-Ehrismann

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Alberto Lleó

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Francisco Coria

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Jaume Kulisevsky

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Nicholas Katsanis

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Felix J Jiménez-Jiménez

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Maria J Martí

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Charlotte N Hor

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Luca Bartesaghi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

language of work or name

1 reference

17 July 2015

1 reference

26 June 2017

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

volume

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

issue

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

page(s)

5677-5686

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources

14 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

AceView: a comprehensive cDNA-supported gene and transcripts annotation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

A map of human genome variation from population-scale sequencing

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Accurate whole human genome sequencing using reversible terminator chemistry

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Fast and accurate short read alignment with Burrows-Wheeler transform

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

A method and server for predicting damaging missense mutations

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

The Sequence Alignment/Map format and SAMtools

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Teneurins: a conserved family of transmembrane proteins involved in intercellular signaling during development

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Mapping of a familial essential tremor gene, FET1, to chromosome 3q13

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Teneurin-4 is a novel regulator of oligodendrocyte differentiation and myelination of small-diameter axons in the CNS

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Cytokine-like 1 (Cytl1) regulates the chondrogenesis of mesenchymal cells

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Variant in the sequence of the LINGO1 gene confers risk of essential tremor

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

A general framework for estimating the relative pathogenicity of human genetic variants

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

FLASH: fast length adjustment of short reads to improve genome assemblies

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson 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=4692992

Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Teneurin-4 promotes cellular protrusion formation and neurite outgrowth through focal adhesion kinase signaling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

In vivo modeling of the morbid human genome using Danio rerio

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Identification of FUS p.R377W in essential tremor

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Deciphering teneurin domains that facilitate cellular recognition, cell-cell adhesion, and neurite outgrowth using atomic force microscopy-based single-cell force spectroscopy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Update on genetics of essential tremor.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Key issues in essential tremor genetics research: Where are we now and how can we move forward?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Neuroimaging of Essential Tremor: What is the Evidence for Cerebellar Involvement?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Predicting the functional effect of amino acid substitutions and indels

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Exome sequencing identifies FUS mutations as a cause of essential tremor

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Copy number variation detection and genotyping from exome sequence data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Trans-synaptic Teneurin signalling in neuromuscular synapse organization and target choice.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Involvement of REST corepressor 3 in prognosis of human hepatitis B.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

The curious case of phenocopies in families with genetic Parkinson's disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

How common is the most common adult movement disorder? Update on the worldwide prevalence of essential tremor

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

E2F8 contributes to human hepatocellular carcinoma via regulating cell proliferation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Focal adhesion kinase regulates laminin-induced oligodendroglial process outgrowth

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Genetics of restless legs syndrome (RLS): State-of-the-art and future directions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

The murine Ten-m/Odz genes show distinct but overlapping expression patterns during development and in adult brain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

A gene (ETM) for essential tremor maps to chromosome 2p22-p25.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Sequencing of natural strains of Arabidopsis thaliana with short reads

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

How common is the most common adult movement disorder? Update on the worldwide prevalence of essential tremor

2 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV281

The role of spectroscopy in parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV281

LINGO1 and risk for essential tremor: results of a meta-analysis of rs9652490 and rs11856808.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV281

Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV281

Familial essential tremor with apparent autosomal dominant inheritance: should we also consider other inheritance modes?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV281

Phenocopies in families with essential tremor and restless legs syndrome challenge Mendelian laws. Epigenetics might provide answers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV281

Low macular pigment optical density is associated with lower cognitive performance in a large, population-based sample of older adults.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV281

Genetic analysis of the fused in sarcoma gene in Chinese Han patients with essential tremor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV281

The Glass scale: a simple tool to determine severity in essential tremor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV281

Alu retrotransposition-mediated deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV281

Fused in Sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in Europeans

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

Consensus statement of the Movement Disorder Society on Tremor. Ad Hoc Scientific Committee.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4692992

27 November 2018

Identifiers

DOI

10.1093/HMG/DDV281

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

release_pzf7qe267vba5n2bzcdq6xwy3e

14 June 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/pzf7qe267vba5n2bzcdq6xwy3e

mapped directly with Wikidata item

24 November 2022

based on heuristic

OpenCitations bibliographic resource ID

4600887

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4600887

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26188006%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

1 reference