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)

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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

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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)

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amyotrophic lateral sclerosis

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Rik Vandenberghe

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Patrick Santens

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Steven Vermeulen

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Steven Vermeulen

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Jan L De Bleecker

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Jan De Bleecker

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Sebastiaan Engelborghs

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Sebastiaan Engelborghs

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Christine Van Broeckhoven

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Christine Van Broeckhoven

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Gernot Kleinberger

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Gernot Kleinberger

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Julie van der Zee

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Julie van der Zee

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Wim Robberecht

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Peter Paul De Deyn

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Peter P De Deyn

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Marc Cruts

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Jean-Jacques Martin

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Jean-Jacques Martin

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Maria Mattheijssens

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Maria Mattheijssens

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Marleen Van den Broeck

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Marleen Van den Broeck

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Ivy Cuijt

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Anne Sieben

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Patrick Cras

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Tim Van Langenhove

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Tim Van Langenhove

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Stéphanie Philtjens

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Stéphanie Philtjens

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Lubina Dillen

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Peter De Jonghe

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Peter De Jonghe

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Githa Maes

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Ellen Corsmit

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Karolien Bettens

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Karolien Bettens

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Jasper Van Dongen

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Jasper Van Dongen

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Kristel Sleegers

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Kristel Sleegers

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Ilse Gijselinck

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Ilse Gijselinck

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Veerle Bäumer

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Caroline Van Cauwenberghe

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Caroline Van Cauwenberghe

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author name string

Jonathan Janssens

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Sandra Pereson

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Geert Joris

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Ellen Elinck

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Carolien Vaerenberg

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Karin Peeters

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publication date

7 December 2011

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Lancet Neurology

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54-65

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1

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Amyotrophic lateral sclerosis

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

7 January 2021

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

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

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7 January 2021

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Are amyotrophic lateral sclerosis patients cognitively normal?

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Prevalence and patterns of cognitive impairment in sporadic ALS.

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Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

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7 January 2021

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

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

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7 January 2021

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

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7 January 2021

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Genetic contribution of FUS to frontotemporal lobar degeneration

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Exome sequencing reveals VCP mutations as a cause of familial ALS

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

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

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

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

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

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

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

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

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

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

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

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

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

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10.1016/S1474-4422(11)70261-7

1 reference

Europe PubMed Central

15 February 2018

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

1 reference

Europe PubMed Central

15 February 2018

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

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