(Q37217068)

19 August 2017

Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay (English)

1 reference

19 August 2017

1 reference

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24075186%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

author name string

Moeenaldeen D Al-Sayed

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24075186%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Hamad Al-Zaidan

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24075186%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Albandary Albakheet

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24075186%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Hana Hakami

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24075186%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Rosan Kenana

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24075186%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Yusra Al-Yafee

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24075186%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Mazhor Al-Dosary

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24075186%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Alya Qari

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24075186%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Tarfa Al-Sheddi

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24075186%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Muhammed Al-Muheiza

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24075186%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Wafa Al-Qubbaj

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24075186%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Yamina Lakmache

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24075186%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Hindi Al-Hindi

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24075186%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Muhammad Ghaziuddin

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24075186%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Namik Kaya

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24075186%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

language of work or name

English

0 references

publication date

26 September 2013

1 reference

American Journal of Human Genetics

19 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24075186%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

93

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24075186%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24075186%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

page(s)

721-726

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24075186%20AND%20SRC:MED&resulttype=core&format=json

Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes

31 May 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791267

NGS catalog: A database of next generation sequencing studies in humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791267

Involvement of Na(+)-leak channel in substance P-induced depolarization of pacemaking activity in interstitial cells of Cajal

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791267

The NALCN ion channel is a new actor in pancreatic β-cell physiology.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791267

Extracellular calcium controls background current and neuronal excitability via an UNC79-UNC80-NALCN cation channel complex

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791267

A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791267

The NALCN ion channel is activated by M3 muscarinic receptors in a pancreatic beta-cell line

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791267

The neuronal channel NALCN contributes resting sodium permeability and is required for normal respiratory rhythm

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791267

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791267

The International HapMap Project

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791267

Overview of the voltage-gated sodium channel family

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791267

From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791267

Peptide neurotransmitters activate a cation channel complex of NALCN and UNC-80.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791267

Cloning of a novel four repeat protein related to voltage-gated sodium and calcium channels

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791267

Analysis of treatment-resistant schizophrenia and 384 markers from candidate genes.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791267

Congenital heart defect and mental retardation in a patient with a 13q33.1-34 deletion.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791267

Lack of association of NALCN genetic variants with schizophrenia.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791267

Human Gene Mutation Database: towards a comprehensive central mutation database

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791267

4 December 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/24075186

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2013.08.001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24075186%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24075186%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

PubMed publication ID

24075186

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24075186%20AND%20SRC:MED&resulttype=core&format=json