1. The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

    Ke Zhang; Christopher J. Donnelly; Aaron R. Haeusler; Jonathan C. Grima; James B. Machamer; Peter Steinwald; Elizabeth L. Daley; Sean J. Miller; Kathleen M. Cunningham; Svetlana Vidensky; Saksham Gupta; Michael A. Thomas; Ingie Hong; Shu-Ling Chiu; Richard L. Huganir; Lyle W. Ostrow; Michael J. Matunis; Jiou Wang; Rita Sattler; Thomas E. Lloyd; Jeffrey D. Rothstein;
    http://dx.doi.org/10.1038/nature14973
    NATURE - 被引用次数:96 时间:2015 导出 [打开HTML->sci-hub]
  2. A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

    Alan E. Renton; Elisa Majounie; Adrian Waite; Javier Simón-Sánchez; Sara Rollinson; J. Raphael Gibbs; Jennifer C. Schymick; Hannu Laaksovirta; John C. van Swieten; Liisa Myllykangas; Hannu Kalimo; Anders Paetau; Yevgeniya Abramzon; Anne M. Remes; Alice Kaganovich; Sonja W. Scholz; Jamie Duckworth; Jinhui Ding; Daniel W. Harmer; Dena G. Hernandez; Janel O. Johnson; Kin Mok; Mina Ryten; Danyah Trabzuni; Rita J. Guerreiro; Richard W. Orrell; James Neal; Alex Murray; Justin Pearson; Iris E. Jansen; David Sondervan; Harro Seelaar; Derek Blake; Kate Young; Nicola Halliwell; Janis Bennion Callister; Greg Toulson; Anna Richardson; Alex Gerhard; Julie Snowden; David Mann; David Neary; Michael A. Nalls; Terhi Peuralinna; Lilja Jansson; Veli-Matti Isoviita; Anna-Lotta Kaivorinne; Maarit Hölttä-Vuori; Elina Ikonen; Raimo Sulkava; Michael Benatar; Joanne Wuu; Adriano Chiò; Gabriella Restagno; Giuseppe Borghero; Mario Sabatelli; David Heckerman; Ekaterina Rogaeva; Lorne Zinman; Jeffrey D. Rothstein; Michael Sendtner; Carsten Drepper; Evan E. Eichler; Can Alkan; Ziedulla Abdullaev; Svetlana D. Pack; Amalia Dutra; Evgenia Pak; John Hardy; Andrew Singleton; Nigel M. Williams; Peter Heutink; Stuart Pickering-Brown; Huw R. Morris; Pentti J. Tienari; Bryan J. Traynor;
    http://dx.doi.org/10.1016/j.neuron.2011.09.010
    NEURON - 被引用次数:1161 时间:2011 导出 [打开HTML->sci-hub]
  3. Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72

    Marka van Blitterswijk; Tania F. Gendron; Matthew C. Baker; Mariely DeJesus-Hernandez; NiCole A. Finch; Patricia H. Brown; Lillian M. Daughrity; Melissa E. Murray; Michael G. Heckman; Jie Jiang; Clotilde Lagier-Tourenne; Dieter Edbauer; Don W. Cleveland; Keith A. Josephs; Joseph E. Parisi; David S. Knopman; Ronald C. Petersen; Leonard Petrucelli; Bradley F. Boeve; Neill R. Graff-Radford; Kevin B. Boylan; Dennis W. Dickson; Rosa Rademakers;
    http://dx.doi.org/10.1007/s00401-015-1480-6
    ACTA NEUROPATHOL - 被引用次数:12 时间:2015 导出 [打开HTML->sci-hub]
  4. C9orf72 nucleotide repeat structures initiate molecular cascades of disease

    Aaron R. Haeusler; Christopher J. Donnelly; Goran Periz; Eric A. J. Simko; Patrick G. Shaw; Min-Sik Kim; Nicholas J. Maragakis; Juan C. Troncoso; Akhilesh Pandey; Rita Sattler; Jeffrey D. Rothstein; Jiou Wang;
    http://dx.doi.org/10.1038/nature13124
    NATURE - 被引用次数:187 时间:2014 导出 [打开HTML->sci-hub]
  5. Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

    Mariely DeJesus-Hernandez; Ian R. Mackenzie; Bradley F. Boeve; Adam L. Boxer; Matt Baker; Nicola J. Rutherford; Alexandra M. Nicholson; NiCole A. Finch; Heather Flynn; Jennifer Adamson; Naomi Kouri; Aleksandra Wojtas; Pheth Sengdy; Ging-Yuek R. Hsiung; Anna Karydas; William W. Seeley; Keith A. Josephs; Giovanni Coppola; Daniel H. Geschwind; Zbigniew K. Wszolek; Howard Feldman; David S. Knopman; Ronald C. Petersen; Bruce L. Miller; Dennis W. Dickson; Kevin B. Boylan; Neill R. Graff-Radford; Rosa Rademakers;
    http://dx.doi.org/10.1016/j.neuron.2011.09.011
    NEURON - 被引用次数:1228 时间:2011 导出 [打开HTML->sci-hub]
  6. GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

    Brian D. Freibaum; Yubing Lu; Rodrigo Lopez-Gonzalez; Nam Chul Kim; Sandra Almeida; Kyung-Ha Lee; Nisha Badders; Marc Valentine; Bruce L. Miller; Philip C. Wong; Leonard Petrucelli; Hong Joo Kim; Fen-Biao Gao; J. Paul Taylor;
    http://dx.doi.org/10.1038/nature14974
    NATURE - 被引用次数:83 时间:2015 导出 [打开HTML->sci-hub]
  7. Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

    Peter E.A. Ash; Kevin F. Bieniek; Tania F. Gendron; Thomas Caulfield; Wen-Lang Lin; Mariely DeJesus-Hernandez; Marka M. van Blitterswijk; Karen Jansen-West; Joseph W. Paul; Rosa Rademakers; Kevin B. Boylan; Dennis W. Dickson; Leonard Petrucelli;
    http://dx.doi.org/10.1016/j.neuron.2013.02.004
    NEURON - 被引用次数:249 时间:2013 导出 [打开HTML->sci-hub]
  8. The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

    K. Mori; S.-M. Weng; T. Arzberger; S. May; K. Rentzsch; E. Kremmer; B. Schmid; H. A. Kretzschmar; M. Cruts; C. Van Broeckhoven; C. Haass; D. Edbauer;
    http://dx.doi.org/10.1126/science.1232927
    SCIENCE - 被引用次数:290 时间:2013 导出 [打开HTML->sci-hub]
  9. Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion

    Adrian J. Waite; Dirk Bäumer; Simon East; James Neal; Huw R. Morris; Olaf Ansorge; Derek J. Blake;
    http://dx.doi.org/10.1016/j.neurobiolaging.2014.01.016
    NEUROBIOL AGING - 被引用次数:20 时间:2014 导出 [打开HTML->sci-hub]
  10. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

    J. S. Snowden; S. Rollinson; J. C. Thompson; J. M. Harris; C. L. Stopford; A. M. T. Richardson; M. Jones; A. Gerhard; Y. S. Davidson; A. Robinson; L. Gibbons; Q. Hu; D. DuPlessis; D. Neary; D. M. A. Mann; S. M. Pickering-Brown;
    http://dx.doi.org/10.1093/brain/awr355
    被引用次数:205 时间:2012 导出 [打开HTML->sci-hub]
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