A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study (Q48791547)

From Wikidata

Jump to navigation Jump to search

scientific article

Language	Label	Description	Also known as
English	A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study (English)

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

amyotrophic lateral sclerosis

0 references

Rik Vandenberghe

14

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

Patrick Santens

15

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

Steven Vermeulen

object named as

Steven Vermeulen

25

0 references

Jan L De Bleecker

object named as

Jan De Bleecker

16

0 references

Sebastiaan Engelborghs

11

object named as

Sebastiaan Engelborghs

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

Christine Van Broeckhoven

35

object named as

Christine Van Broeckhoven

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

Gernot Kleinberger

6

object named as

Gernot Kleinberger

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

Julie van der Zee

3

object named as

Julie van der Zee

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

30

object named as

Wim Robberecht

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

Peter Paul De Deyn

33

object named as

Peter P De Deyn

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

34

object named as

Marc Cruts

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

Jean-Jacques Martin

32

object named as

Jean-Jacques Martin

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

Maria Mattheijssens

28

object named as

Maria Mattheijssens

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

Marleen Van den Broeck

26

object named as

Marleen Van den Broeck

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

21

object named as

Ivy Cuijt

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

12

object named as

Anne Sieben

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

31

object named as

Patrick Cras

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

Tim Van Langenhove

2

object named as

Tim Van Langenhove

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

Stéphanie Philtjens

5

object named as

Stéphanie Philtjens

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

19

object named as

Lubina Dillen

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

Peter De Jonghe

13

object named as

Peter De Jonghe

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

17

object named as

Githa Maes

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

22

object named as

Ellen Corsmit

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

Karolien Bettens

8

object named as

Karolien Bettens

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

Jasper Van Dongen

24

object named as

Jasper Van Dongen

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

Kristel Sleegers

4

object named as

Kristel Sleegers

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

Ilse Gijselinck

1

object named as

Ilse Gijselinck

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

18

object named as

Veerle Bäumer

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

Caroline Van Cauwenberghe

9

object named as

Caroline Van Cauwenberghe

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

author name string

Jonathan Janssens

7

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

Sandra Pereson

10

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

Geert Joris

20

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

Ellen Elinck

23

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

Carolien Vaerenberg

27

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

Karin Peeters

29

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

publication date

7 December 2011

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

Lancet Neurology

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

11

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

1

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

54-65

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

Amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Frontotemporal dementia and motor neurone disease: overlapping clinic-pathological disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Are amyotrophic lateral sclerosis patients cognitively normal?

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Prevalence and patterns of cognitive impairment in sporadic ALS.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic contribution of FUS to frontotemporal lobar degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Exome sequencing reveals VCP mutations as a cause of familial ALS

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of 2 Loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A general method for the detection of large CAG repeat expansions by fluorescent PCR

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Allegro version 2

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A user's guide to the encyclopedia of DNA elements (ENCODE)

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Chromosome 9p21 in amyotrophic lateral sclerosis: the plot thickens

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

The biological effects of simple tandem repeats: lessons from the repeat expansion diseases

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970261-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S1474-4422(11)70261-7

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/22154785

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q48791547&oldid=2210669535"