(Q36473346)

14 August 2017

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability (English)

1 reference

disability affecting intellectual abilities

14 August 2017

0 references

intellectual disability

1 reference

1 reference

1 reference

Maja Tarailo-Graovac

16

0 references

James R. Lupski

20

object named as

James R Lupski

1 reference

14 August 2017

15

Donna M Muzny

1 reference

14 August 2017

Asbjørg Stray-Pedersen

1

object named as

Asbjørg Stray-Pedersen

1 reference

14 August 2017

Baylor-Hopkins Center for Mendelian Genomics

19

object named as

Baylor-Hopkins Center for Mendelian Genomics

1 reference

14 August 2017

3

Trine E Prescott

1 reference

14 August 2017

Jan-Maarten Cobben

2

1 reference

14 August 2017

Sora Lee

4

1 reference

14 August 2017

Chunlei Cang

5

1 reference

14 August 2017

Kimberly Aranda

6

1 reference

14 August 2017

Sohnee Ahmed

7

1 reference

14 August 2017

Marielle Alders

8

1 reference

14 August 2017

Thorsten Gerstner

9

1 reference

14 August 2017

Kathinka Aslaksen

10

1 reference

14 August 2017

Martine Tétreault

11

1 reference

14 August 2017

Wen Qin

12

1 reference

14 August 2017

Taila Hartley

13

1 reference

14 August 2017

Shalini N Jhangiani

14

1 reference

14 August 2017

Clara D M van Karnebeek

17

1 reference

14 August 2017

Care4Rare Canada Consortium

18

1 reference

14 August 2017

Dejian Ren

21

1 reference

14 August 2017

Grace Yoon

22

1 reference

14 August 2017

language of work or name

English

0 references

publication date

16 December 2015

1 reference

American Journal of Human Genetics

14 August 2017

1 reference

14 August 2017

98

1 reference

14 August 2017

1

1 reference

14 August 2017

202-209

1 reference

A Conserved Bicycle Model for Circadian Clock Control of Membrane Excitability

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716670

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716670

Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716670

Clinical whole-exome sequencing for the diagnosis of mendelian 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=4716670

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716670

An integrative variant analysis suite for whole exome next-generation sequencing data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716670

Sodium leak channels in neuronal excitability and rhythmic behaviors

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716670

Whole-genome sequencing for optimized patient 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=4716670

The variant call format and VCFtools

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716670

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716670

Hereditary Channelopathies in Neurology

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716670

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716670

Neurological channelopathies: new insights into disease mechanisms and ion channel function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716670

UNC80 functions as a scaffold for Src kinases in NALCN channel function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716670

Fast and accurate short read alignment with Burrows-Wheeler transform

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716670

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716670

Genetic analysis of crawling and swimming locomotory patterns in C. elegans

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716670

Inherited neuronal ion channelopathies: new windows on complex neurological diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716670

A putative cation channel, NCA-1, and a novel protein, UNC-80, transmit neuronal activity in C. elegans

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716670

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716670

Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716670

Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716670

UNC-80 and the NCA ion channels contribute to endocytosis defects in synaptojanin mutants

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716670

A putative cation channel and its novel regulator: cross-species conservation of effects on general anesthesia

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716670

An unusual cation channel mediates photic control of locomotion in Drosophila

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716670

A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis

21 September 2018

3 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716670

21 October 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716670

4 December 2018

https://pubmed.ncbi.nlm.nih.gov/26708751

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2015.11.004

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

26708751

1 reference