The Phenotype of the Hexanucleotide Repeat C9FTD/ALS (C9ORF72)

被引：0
|
作者：
Sha, Sharon [1 ]
Takada, Leonel [1 ]
Rankin, Katherine [1 ]
Yokoyama, Jennifer [1 ]
Khan, Baber [1 ]
Karydas, Anna [1 ]
Fong, Jamie [1 ]
Rutherford, Nicola [2 ]
Baker, Matthew [2 ]
DeJesus-Hernandez, Mariely [2 ]
Coppola, Giovanni [3 ]
Rademakers, Rosa [2 ]
Seeley, William [1 ]
Miller, Bruce [1 ]
Boxer, Adam [1 ]
机构：
[1] UCSF, San Francisco, CA USA
[2] Mayo Clin, Jacksonville, FL 32224 USA
[3] Univ Calif Los Angeles, Los Angeles, CA USA
来源：
NEUROLOGY | 2012年 / 78卷
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
P05060
引用
收藏
页数：2
相关论文
共 50 条
  • [31] C9orf72 repeat expansions are restricted to the ALS-FTD spectrum
    Ticozzi, Nicola
    Tiloca, Cinzia
    Calini, Daniela
    Gagliardi, Stella
    Altieri, Alessandra
    Colombrita, Claudia
    Cereda, Cristina
    Ratti, Antonia
    Pezzoli, Gianni
    Borroni, Barbara
    Goldwurm, Stefano
    Padovani, Alessandro
    Silani, Vincenzo
    NEUROBIOLOGY OF AGING, 2014, 35 (04) : 936.e13 - 936.e17
  • [32] C9ORF72, the new gene on the block, causes C9FTD/ALS: new insights provided by neuropathology
    Eileen H. Bigio
    Acta Neuropathologica, 2011, 122 : 653 - 655
  • [33] Emerging Perspectives on Dipeptide Repeat Proteins in C9ORF72 ALS/FTD
    Schmitz, Alexander
    Pinheiro Marques, Joao
    Oertig, Irina
    Maharjan, Niran
    Saxena, Smita
    FRONTIERS IN CELLULAR NEUROSCIENCE, 2021, 15
  • [34] C9ORF72, the new gene on the block, causes C9FTD/ALS: new insights provided by neuropathology
    Bigio, Eileen H.
    ACTA NEUROPATHOLOGICA, 2011, 122 (06) : 653 - 655
  • [35] Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS
    Ash, Peter E. A.
    Bieniek, Kevin F.
    Gendron, Tania F.
    Caulfield, Thomas
    Lin, Wen-Lang
    DeJesus-Hernandez, Mariely
    van Blitterswijk, Marka M.
    Jansen-West, Karen
    Paul, Joseph W., III
    Rademakers, Rosa
    Boylan, Kevin B.
    Dickson, Dennis W.
    Petrucelli, Leonard
    NEURON, 2013, 77 (04) : 639 - 646
  • [36] Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
    DeJesus-Hernandez, Mariely
    Mackenzie, Ian R.
    Boeve, Bradley F.
    Boxer, Adam L.
    Baker, Matt
    Rutherford, Nicola J.
    Nicholson, Alexandra M.
    Finch, NiCole A.
    Flynn, Heather
    Adamson, Jennifer
    Kouri, Naomi
    Wojtas, Aleksandra
    Sengdy, Pheth
    Hsiung, Ging-Yuek R.
    Karydas, Anna
    Seeley, William W.
    Josephs, Keith A.
    Coppola, Giovanni
    Geschwind, Daniel H.
    Wszolek, Zbigniew K.
    Feldman, Howard
    Knopman, David S.
    Petersen, Ronald C.
    Miller, Bruce L.
    Dickson, Dennis W.
    Boylan, Kevin B.
    Graff-Radford, Neill R.
    Rademakers, Rosa
    NEURON, 2011, 72 (02) : 245 - 256
  • [37] Structural insight into C9orf72 hexanucleotide repeat expansions: Towards new therapeutic targets in FTD-ALS
    Kumar, Vijay
    Kashav, Tara
    Islam, Asimul
    Ahmad, Faizan
    Hassan, Md. Imtaiyaz
    NEUROCHEMISTRY INTERNATIONAL, 2016, 100 : 11 - 20
  • [38] Knock in of a hexanucleotide repeat expansion in the C9orf72 gene induces ALS in rats
    Dong, Wei
    Zhang, Li
    Sun, Caixian
    Gao, Xiang
    Guan, Feifei
    Li, Jing
    Chen, Wei
    Ma, Yuanwu
    Zhang, Lianfeng
    ANIMAL MODELS AND EXPERIMENTAL MEDICINE, 2020, 3 (03) : 237 - 244
  • [39] Knock in of a hexanucleotide repeat expansion in the C9orf72 gene induces ALS in rats
    Wei Dong
    Li Zhang
    Caixian Sun
    Xiang Gao
    Feifei Guan
    Jing Li
    Wei Chen
    Yuanwu Ma
    Lianfeng Zhang
    AnimalModelsandExperimentalMedicine, 2020, 3 (03) : 237 - 244
  • [40] Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS
    Sokratous, Maria
    Lucia, Schottlaender
    Bourinaris, Thomas
    Marogianni, Chrysoula
    Arnaoutoglou, Marianthi
    Patrikiou, Eleni
    Ralli, Styliani
    Markou, Aikaterini
    Dardiotis, Efthimios
    Houlden, Henry
    Hadjigeorgiou, Georgios M.
    Xiromerisiou, Georgia
    AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, 2020, 21 (5-6) : 470 - 472
12345