The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder-Reference-Cited by-同舟云学术

The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

Published:2012-06-13 Issue:1 Volume:21 Page:102-108
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Smith Bradley N,Newhouse Stephen,Shatunov Aleksey,Vance Caroline,Topp Simon,Johnson Lauren,Miller Jack,Lee Younbok,Troakes Claire,Scott Kirsten M,Jones Ashley,Gray Ian,Wright Jamie,Hortobágyi Tibor,Al-Sarraj Safa,Rogelj Boris,Powell John,Lupton Michelle,Lovestone Simon,Sapp Peter C,Weber Markus,Nestor Peter J,Schelhaas Helenius J,Asbroek Anneloor ALM ten,Silani Vincenzo,Gellera Cinzia,Taroni Franco,Ticozzi Nicola,Van den Berg Leonard,Veldink Jan,Van Damme Phillip,Robberecht Wim,Shaw Pamela J,Kirby Janine,Pall Hardev,Morrison Karen E,Morris Alex,de Belleroche Jacqueline,Vianney de Jong J M B,Baas Frank,Andersen Peter M,Landers John,Brown Robert H,Weale Michael E,Al-Chalabi Ammar,Shaw Christopher E

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201298.pdf

Reference35 articles.

1. Shaw CE, al-Chalabi A, Leigh N : Progress in the pathogenesis of amyotrophic lateral sclerosis. Curr Neurol Neurosci Rep 2001; 1: 69–76.

2. Lomen-Hoerth C, Anderson T, Miller B : The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology 2002; 59: 1077–1079.

3. Vance C, Al-Chalabi A, Ruddy D et al. Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. Brain 2006; 129: 868–876.

4. Morita M, Al-Chalabi A, Andersen PM et al. A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology 2006; 66: 839–844.

5. Luty AA, Kwok JB, Thompson EM et al. Pedigree with frontotemporal lobar degeneration – motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9. BMC Neurol 2008; 8: 32.

Cited by 189 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The shared ancestry between the C9orf72 hexanucleotide repeat expansion and intermediate-length alleles using haplotype sharing trees and HAPTK;The American Journal of Human Genetics;2024-02

2. C9orf72 Repeat Expansion Discordance in 6 Multigenerational Kindreds;Neurology Genetics;2024-02

3. ATXN2 is a target of N-terminal proteolysis;PLOS ONE;2023-12-21

4. A monocarboxylate transporter rescues frontotemporal dementia and Alzheimer’s disease models;PLOS Genetics;2023-09-21

5. Pathological insights from amyotrophic lateral sclerosis animal models: comparisons, limitations, and challenges;Translational Neurodegeneration;2023-09-20