(Q36809438)

16 August 2017

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia (English)

1 reference

amyotrophic lateral sclerosis and frontotemporal dementia

16 August 2017

0 references

amyotrophic lateral sclerosis

0 references

frontotemporal dementia

1 reference

19

1 reference

16 August 2017

25

1 reference

16 August 2017

47

1 reference

16 August 2017

62

Guy A Rouleau

0 references

Marka van Blitterswijk

18

Marka van Blitterswijk

0 references

Athina Soragia Gkazi

38

Athina Soragia Gkazi

0 references

Jacqueline de Belleroche

51

Jacqueline de Belleroche

0 references

Emily P McCann

Emily P McCann

27

0 references

Simon Topp

Simon Topp

2

0 references

Kelly L Williams

Kelly L Williams

1

0 references

Jennifer A. Fifita

Jennifer A Fifita

5

0 references

William S Brooks

William S Brooks

41

0 references

Albert Lee

Albert Lee

13

0 references

Nicholas J. Cole

Nicholas J Cole

63

0 references

Nicola Ticozzi

Nicola Ticozzi

49

0 references

Caroline Vance

Caroline Vance

9

0 references

Cinzia Gellera

Cinzia Gellera

37

0 references

Roger Chung

Roger S Chung

55

0 references

Gilles J. Guillemin

Gilles J Guillemin

54

0 references

Patrick A Dion

31

Patrick A Dion

1 reference

16 August 2017

Christopher E Shaw

66

0 references

Melissa E. Murray

Melissa E Murray

23

0 references

Mark P Molloy

Mark P Molloy

17

0 references

Alison Hogan

Alison Hogan

28

0 references

Julie D Atkin

Julie D Atkin

65

0 references

Ian P Blair

Ian P Blair

68

0 references

Karen E Morrison

Karen E Morrison

48

0 references

Shu Yang

Shu Yang

3

0 references

Rosa Rademakers

59

Rosa Rademakers

1 reference

16 August 2017

20

Ronald C Petersen

1 reference

16 August 2017

22

Bradley F Boeve

1 reference

16 August 2017

12

Claire S Leblond

1 reference

16 August 2017

Neill R Graff-Radford

21

Neill R Graff-Radford

1 reference

16 August 2017

4

Bradley Smith

1 reference

16 August 2017

14

Stephanie L Rayner

1 reference

16 August 2017

53

John B J Kwok

1 reference

16 August 2017

64

Justin J Yerbury

1 reference

16 August 2017

6

Sadaf T Warraich

1 reference

16 August 2017

11

Alessandra Chesi

1 reference

16 August 2017

15

Vinod Sundaramoorthy

1 reference

16 August 2017

16

Carol Dobson-Stone

1 reference

16 August 2017

26

Claire Winnick

1 reference

16 August 2017

32

Jun Mitsui

1 reference

16 August 2017

33

Hiroyuki Ishiura

1 reference

16 August 2017

35

Jun Goto

1 reference

16 August 2017

36

Jason Kost

1 reference

16 August 2017

43

Meraida Polak

1 reference

16 August 2017

José Luis Muñoz-Blanco

44

José Luis Muñoz-Blanco

1 reference

16 August 2017

45

Jesús Esteban-Pérez

1 reference

16 August 2017

Alberto Garcia Redondo

58

Alberto García-Redondo

1 reference

16 August 2017

24

Cyril Pottier

1 reference

16 August 2017

52

Jonathan D Glass

1 reference

16 August 2017

60

John E Landers

1 reference

16 August 2017

29

Hussein Daoud

1 reference

16 August 2017

40

Joanne Stockton

1 reference

16 August 2017

61

Aaron D Gitler

1 reference

16 August 2017

30

Annie Levert

1 reference

16 August 2017

46

Alberto Rábano

1 reference

16 August 2017

57

Robert H Brown

1 reference

16 August 2017

Katharine Y Zhang

7

1 reference

16 August 2017

Natalie Farrawell

8

1 reference

16 August 2017

Xun Hu

10

1 reference

16 August 2017

Yuji Takahashi

34

1 reference

16 August 2017

Jack Miller

39

1 reference

16 August 2017

Karyn Boundy

42

1 reference

16 August 2017

Vincenzo Silani

50

1 reference

16 August 2017

Shoji Tsuji

56

1 reference

16 August 2017

Garth A Nicholson

67

1 reference

16 August 2017

language of work or name

English

0 references

publication date

15 April 2016

1 reference

16 August 2017

Nature Communications

1 reference

16 August 2017

7

1 reference

16 August 2017

11253

1 reference

Creative Commons Attribution 4.0 International

16 August 2017

start time

15 April 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1038/ncomms11253

0 references

cites work

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

Dysregulated expression of lipid storage and membrane dynamics factors in Tia1 knockout mouse nervous tissue

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

Stress granules as crucibles of ALS pathogenesis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

The changing scene of amyotrophic lateral sclerosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

A cyclin without cyclin-dependent kinases: cyclin F controls genome stability through ubiquitin-mediated proteolysis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

A framework for variation discovery and genotyping using next-generation DNA sequencing 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=4835537

Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

Valosin containing protein associated fronto-temporal lobar degeneration: clinical presentation, pathologic features and pathogenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

Exome sequencing reveals VCP mutations as a cause of familial ALS

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing 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=4835537

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing 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=4835537

SCF(Cyclin F) controls centrosome homeostasis and mitotic fidelity through CP110 degradation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

Mutations of optineurin in amyotrophic lateral sclerosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

Pathogenesis of Parkinson's disease: emerging role of molecular chaperones

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

The Sequence Alignment/Map format and SAMtools

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

Fast and accurate short read alignment with Burrows-Wheeler transform

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

Application and analysis of the GFPu family of ubiquitin-proteasome system reporters

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

Impairment of the ubiquitin-proteasome system by protein aggregation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

SKP1 connects cell cycle regulators to the ubiquitin proteolysis machinery through a novel motif, the F-box

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

Easy calculations of lod scores and genetic risks on small computers

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

Impaired ERAD and ER stress are early and specific events in polyglutamine toxicity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4835537

easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27080313

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NCOMMS11253

1 reference

16 August 2017

0 references

1 reference

16 August 2017

1 reference