Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia-Reference-Cited by-同舟云学术

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia

Published:2013-07-02 Issue:3 Volume:126 Page:401-409
ISSN:0001-6322
Container-title:Acta Neuropathologica
language:en
Short-container-title:Acta Neuropathol

Author:

Fratta Pietro,Poulter Mark,Lashley Tammaryn,Rohrer Jonathan D.,Polke James M.,Beck Jon,Ryan Natalie,Hensman Davina,Mizielinska Sarah,Waite Adrian J.,Lai Mang-Ching,Gendron Tania F.,Petrucelli Leonard,Fisher Elizabeth M. C.,Revesz Tamas,Warren Jason D.,Collinge John,Isaacs Adrian M.,Mead Simon

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Link

http://link.springer.com/article/10.1007/s00401-013-1147-0/fulltext.html

Reference32 articles.

1. Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R (2004) Mutations in the glucocerebrosidase gene and Parkinson’s disease in Ashkenazi Jews. N Engl J Med 351(19):1972–1977

2. Akbas F, Serdaroglu P, Deymeer F, Aysal F, Erginel-Unaltuna N (2001) Molecular and clinical study of two myotonic dystrophy homozygotes. J Med Genet 38(11):e40

3. Ash PEA, Bieniek KF, Gendron TF et al (2013) Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron. doi: 10.1016/j.neuron.2013.02.004

4. Baker M, Mackenzie IR, Pickering-Brown SM et al (2006) Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 442(7105):916–919

5. Beck J, Poulter M, Hensman D et al (2013) Large C9orf72 Hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet. doi: 10.1016/j.ajhg.2013.01.011

Cited by 123 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 prion-like effect and prion-like protein targeting strategy in amyotrophic lateral sclerosis;Heliyon;2024-08

2. ALS’ Perfect Storm: C9orf72-Associated Toxic Dipeptide Repeats as Potential Multipotent Disruptors of Protein Homeostasis;Cells;2024-01-17

3. Pathogenesis underlying hexanucleotide repeat expansions in C9orf72 gene in amyotrophic lateral sclerosis;Reviews in the Neurosciences;2023-08-02

4. Repeated mild traumatic brain injury triggers pathology in asymptomatic C9ORF72 transgenic mice;Brain;2023-08-01

5. Microglial crosstalk with astrocytes and immune cells in amyotrophic lateral sclerosis;Frontiers in Immunology;2023-07-26