(Q28277378)

30 September 2017

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis (English)

1 reference

amyotrophic lateral sclerosis

30 September 2017

0 references

author

Russell McLaughlin

20

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30 September 2017

54

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30 September 2017

72

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30 September 2017

21

Caroline Vance

1 reference

30 September 2017

Carsten Drepper

66

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William Sproviero

William Sproviero

12

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Ashley R. Jones

Ashley R Jones

9

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Simon Topp

Simon D Topp

15

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Marka van Blitterswijk

Marka Van Blitterswijk

58

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Bradley N. Smith

Bradley N Smith

13

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Aleksey Shatunov

Aleksey Shatunov

11

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Nicola Ticozzi

Nicola Ticozzi

4

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Claire Troakes

Claire Troakes

22

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Kevin Talbot

Kevin Talbot

55

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Giuseppe Lauria

Giuseppe Lauria

44

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Pamela Shaw

Pamela J Shaw

53

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Patrick A Dion

50

Patrick A Dion

1 reference

30 September 2017

Christopher E Shaw

79

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Ian P Blair

Ian P Blair

48

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Karen E Morrison

Karen E Morrison

42

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Rosa Rademakers

59

Rosa Rademakers

1 reference

30 September 2017

77

Ammar Al-Chalabi

1 reference

30 September 2017

Leonard H van den Berg

80

Leonard H van den Berg

1 reference

30 September 2017

73

Albert C Ludolph

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30 September 2017

24

Gabriele Mora

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30 September 2017

64

Adriano Chio

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30 September 2017

74

Peter M Andersen

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30 September 2017

43

SLAGEN Consortium

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30 September 2017

81

Jan H Veldink

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30 September 2017

46

P Nigel Leigh

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30 September 2017

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49

Claire S Leblond

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30 September 2017

Perry T C van Doormaal

2

Perry T C van Doormaal

1 reference

30 September 2017

19

Cinzia Tiloca

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30 September 2017

27

Safa Al-Sarraj

1 reference

Anneloor L M A Ten Asbroek

30 September 2017

34

Anneloor L M A Ten Asbroek

1 reference

30 September 2017

69

Jonathan D Glass

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30 September 2017

82

John E Landers

1 reference

30 September 2017

75

Jochen H Weishaupt

1 reference

30 September 2017

45

Kelly L Williams

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30 September 2017

57

Kevin B Boylan

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30 September 2017

68

Antonia Ratti

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30 September 2017

29

Daniela Calini

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30 September 2017

6

Frank P Diekstra

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30 September 2017

52

Hardev Pall

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30 September 2017

35

Peter C Sapp

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30 September 2017

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Phillip Van Damme

1 reference

30 September 2017

16

Aoife Kenna

1 reference

30 September 2017

26

Federico Verde

1 reference

30 September 2017

1

Kevin P Kenna

1 reference

30 September 2017

3

Annelot M Dekker

1 reference

30 September 2017

10

Pamela Keagle

1 reference

30 September 2017

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Claudia Fallini

1 reference

30 September 2017

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Claudia Colombrita

1 reference

30 September 2017

25

Andrea Calvo

1 reference

30 September 2017

Anneke J van der Kooi

32

Anneke J van der Kooi

1 reference

30 September 2017

37

Meraida Polak

1 reference

30 September 2017

40

Tim M Strom

1 reference

30 September 2017

71

Nazli A Basak

1 reference

30 September 2017

76

Robert H Brown

1 reference

30 September 2017

Brendan J Kenna

5

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30 September 2017

Kristel R van Eijk

8

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30 September 2017

Michael A van Es

14

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30 September 2017

Jack W Miller

17

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30 September 2017

Andrew King

28

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30 September 2017

Seneshaw Asress

38

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30 September 2017

José Luis Muñoz-Blanco

39

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30 September 2017

Garth A Nicholson

47

1 reference

30 September 2017

Franco Taroni

56

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30 September 2017

Jesús Esteban-Pérez

60

1 reference

30 September 2017

Alberto García-Redondo

61

1 reference

30 September 2017

Cinzia Gellera

65

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30 September 2017

Jesús S Mora

70

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30 September 2017

Vincenzo Silani

78

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30 September 2017

language of work or name

English

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publication date

25 July 2016

1 reference

30 September 2017

1 reference

30 September 2017

48

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30 September 2017

9

1 reference

30 September 2017

1037-1042

1 reference

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

DNA damage in neurodegenerative diseases

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Identification of Genetic Factors that Modify Clinical Onset of Huntington's Disease

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Reducing INDEL calling errors in whole genome and exome sequencing data

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

In silico prediction of splice-altering single nucleotide variants in the human genome

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Functions of FUS/TLS from DNA repair to stress response: implications for ALS.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

DNA damage and its links to neurodegeneration

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

State of play in amyotrophic lateral sclerosis genetics

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

NCBI's Database of Genotypes and Phenotypes: dbGaP.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Riding the wave of ependymal cilia: genetic susceptibility to hydrocephalus in primary ciliary dyskinesia

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Predicting functional effect of human missense mutations using PolyPhen-2.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

An integrated map of genetic variation from 1,092 human genomes

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Extensive genetics of ALS: a population-based study in Italy

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Predicting the functional effect of amino acid substitutions and indels

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Unlocking Mendelian disease using exome sequencing

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Adenylyl cyclase type 3, a marker of primary cilia, is reduced in primary cell culture and in lumbar spinal cord in situ in G93A SOD1 mice

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Predicting the functional impact of protein mutations: application to cancer genomics

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

A framework for variation discovery and genotyping using next-generation DNA sequencing data

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

NEK1 mutations cause short-rib polydactyly syndrome type majewski

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

GCTA: a tool for genome-wide complex trait analysis

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Robust relationship inference in genome-wide association studies

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

MutationTaster evaluates disease-causing potential of sequence alterations

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

METAL: fast and efficient meta-analysis of genomewide association scans

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Nek1 silencing slows down DNA repair and blocks DNA damage-induced cell cycle arrest

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

The role of primary cilia in neuronal function

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Identification of deleterious mutations within three human genomes

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

The NIMA-family kinase Nek3 regulates microtubule acetylation in neurons

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Identifying novel constrained elements by exploiting biased substitution patterns

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

HomozygosityMapper--an interactive approach to homozygosity mapping

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Nek1 regulates cell death and mitochondrial membrane permeability through phosphorylation of VDAC1

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

The NIMA-family kinase, Nek1 affects the stability of centrosomes and ciliogenesis

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

The mammalian Nek1 kinase is involved in primary cilium formation

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

PLINK: a tool set for whole-genome association and population-based linkage analyses

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Distribution and intensity of constraint in mammalian genomic sequence

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

Identification of proteins that interact with the central coiled-coil region of the human protein kinase NEK1

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560030

NEK1 mutations in familial amyotrophic lateral sclerosis.

2 June 2018

1 reference

Nek7 kinase accelerates microtubule dynamic instability.

21 January 2018

1 reference

Mutant dynactin in motor neuron disease.

21 January 2018

1 reference

Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms

21 January 2018

1 reference

A solution to the problem of separation in logistic regression.

21 January 2018

1 reference

Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27455347

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.3626

1 reference

30 September 2017

1 reference

30 September 2017

PubMed publication ID

27455347

1 reference