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Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72

  • Published:2015-10-05 Issue:6 Volume:130 Page:863-876
  • ISSN:0001-6322
  • Container-title:Acta Neuropathologica
  • language:en
  • Short-container-title:Acta Neuropathol

Author:

van Blitterswijk Marka,Gendron Tania F.,Baker Matthew C.,DeJesus-Hernandez Mariely,Finch NiCole A.,Brown Patricia H.,Daughrity Lillian M.,Murray Melissa E.,Heckman Michael G.,Jiang Jie,Lagier-Tourenne Clotilde,Edbauer Dieter,Cleveland Don W.,Josephs Keith A.,Parisi Joseph E.,Knopman David S.,Petersen Ronald C.,Petrucelli Leonard,Boeve Bradley F.,Graff-Radford Neill R.,Boylan Kevin B.,Dickson Dennis W.,Rademakers Rosa

Funder

Amyotrophic Lateral Sclerosis Association

National Institute of Neurological Disorders and Stroke

National Institute on Aging

ALS Therapy Alliance

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Clinical Neurology,Pathology and Forensic Medicine

Reference31 articles.

1. Almeida S, Gascon E, Tran H, Chou HJ, Gendron TF, Degroot S, Tapper AR, Sellier C, Charlet-Berguerand N, Karydas A, Seeley WW, Boxer AL, Petrucelli L, Miller BL, Gao FB (2013) Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons. Acta Neuropathol 126(3):385–399. doi: 10.1007/s00401-013-1149-y

2. Ash PE, Bieniek KF, Gendron TF, Caulfield T, Lin WL, Dejesus-Hernandez M, van Blitterswijk MM, Jansen-West K, Paul JW 3rd, Rademakers R, Boylan KB, Dickson DW, Petrucelli L (2013) Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron 77(4):639–646. doi: 10.1016/j.neuron.2013.02.004

3. Belzil VV, Bauer PO, Prudencio M, Gendron TF, Stetler CT, Yan IK, Pregent L, Daughrity L, Baker MC, Rademakers R, Boylan K, Patel TC, Dickson DW, Petrucelli L (2013) Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood. Acta Neuropathol 126(6):895–905. doi: 10.1007/s00401-013-1199-1

4. Bieniek KF, van Blitterswijk M, Baker MC, Petrucelli L, Rademakers R, Dickson DW (2014) Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia. JAMA Neurol 71(6):775–781. doi: 10.1001/jamaneurol.2013.6368

5. Chew J, Gendron TF, Prudencio M, Sasaguri H, Zhang YJ, Castanedes-Casey M, Lee CW, Jansen-West K, Kurti A, Murray ME, Bieniek KF, Bauer PO, Whitelaw EC, Rousseau L, Stankowski JN, Stetler C, Daughrity LM, Perkerson EA, Desaro P, Johnston A, Overstreet K, Edbauer D, Rademakers R, Boylan KB, Dickson DW, Fryer JD, Petrucelli L (2015) Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits. Science 348(6239):1151–1154. doi: 10.1126/science.aaa9344
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