(Q36687168)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365052%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

title

DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365052%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

0 references

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365052%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

John B Kwok

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365052%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Nilüfer Ertekin-Taner

3

object named as

Nilufer Ertekin-Taner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365052%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

4

Sarah Lincoln

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365052%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

author name string

Tom Bird

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365052%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Robert Hjorth

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365052%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Yanhong Wu

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365052%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Georges Mer

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365052%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Peter J Dyck

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365052%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Garth A Nicholson

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365052%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

language of work or name

English

0 references

publication date

30 January 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365052%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365052%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

volume

80

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365052%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

issue

9

1 reference

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23 February 2020

page(s)

824-828

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365052%20AND%20SRC:MED&resulttype=core&format=json

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

23 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598458

Regulation of DNA methyltransferase 1 by interactions and modifications

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598458

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598458

Structural insight into maintenance methylation by mouse DNA methyltransferase 1 (Dnmt1)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598458

The replication focus targeting sequence (RFTS) domain is a DNA-competitive inhibitor of Dnmt1

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598458

Common variants in P2RY11 are associated with narcolepsy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598458

The role of DNA methylation in the central nervous system and neuropsychiatric disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598458

SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598458

Evidence for a novel late-onset Alzheimer disease locus on chromosome 19p13.2.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598458

Seizures in elderly patients with dementia: epidemiology and management

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598458

Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598458

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598458

Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598458

Inflammatory glial activation in the brain of a patient with hereditary sensory neuropathy type 1 with deafness and dementia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598458

Hereditary sensory neuropathy with sensorineural deafness and early-onset dementia.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598458

Hereditary sensory neuropathy with deafness and dementia: a clinical and neuroimaging study.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598458

Neuroimaging study in autosomal dominant cerebellar ataxia, deafness, and narcolepsy

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23365052

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0B013E318284076D

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365052%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365052%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

PubMed publication ID

23365052

1 reference