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1 |
Material Type: Artigo
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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTDRenton, Alan E. ; Majounie, Elisa ; Waite, Adrian ; Simón-Sánchez, Javier ; Rollinson, Sara ; Gibbs, J. Raphael ; Schymick, Jennifer C. ; Laaksovirta, Hannu ; van Swieten, John C. ; Myllykangas, Liisa ; Kalimo, Hannu ; Paetau, Anders ; Abramzon, Yevgeniya ; Remes, Anne M. ; Kaganovich, Alice ; Scholz, Sonja W. ; Duckworth, Jamie ; Ding, Jinhui ; Harmer, Daniel W. ; Hernandez, Dena G. ; Johnson, Janel O. ; Mok, Kin ; Ryten, Mina ; Trabzuni, Danyah ; Guerreiro, Rita J. ; Orrell, Richard W. ; Neal, James ; Murray, Alex ; Pearson, Justin ; Jansen, Iris E. ; Sondervan, David ; Seelaar, Harro ; Blake, Derek ; Young, Kate ; Halliwell, Nicola ; Callister, Janis Bennion ; Toulson, Greg ; Richardson, Anna ; Gerhard, Alex ; Snowden, Julie ; Mann, David ; Neary, David ; Nalls, Michael A. ; Peuralinna, Terhi ; Jansson, Lilja ; Isoviita, Veli-Matti ; Kaivorinne, Anna-Lotta ; Hölttä-Vuori, Maarit ; Ikonen, Elina ; Sulkava, Raimo ; Benatar, Michael ; Wuu, Joanne ; Chiò, Adriano ; Restagno, Gabriella ; Borghero, Giuseppe ; Sabatelli, Mario ; Heckerman, David ; Rogaeva, Ekaterina ; Zinman, Lorne ; Rothstein, Jeffrey D. ; Sendtner, Michael ; Drepper, Carsten ; Eichler, Evan E. ; Alkan, Can ; Abdullaev, Ziedulla ; Pack, Svetlana D. ; Dutra, Amalia ; Pak, Evgenia ; Hardy, John ; Singleton, Andrew ; Williams, Nigel M. ; Heutink, Peter ; Pickering-Brown, Stuart ; Morris, Huw R. ; Tienari, Pentti J. ; Traynor, Bryan J.Neuron (Cambridge, Mass.), 2011-10, Vol.72 (2), p.257-268 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13ABrown, Anna-Leigh ; Wilkins, Oscar G ; Keuss, Matthew J ; Hill, Sarah E ; Zanovello, Matteo ; Lee, Weaverly Colleen ; Bampton, Alexander ; Lee, Flora C Y ; Masino, Laura ; Qi, Yue A ; Bryce-Smith, Sam ; Gatt, Ariana ; Hallegger, Martina ; Fagegaltier, Delphine ; Phatnani, Hemali ; Newcombe, Jia ; Gustavsson, Emil K ; Seddighi, Sahba ; Reyes, Joel F ; Coon, Steven L ; Ramos, Daniel ; Schiavo, Giampietro ; Fisher, Elizabeth M C ; Raj, Towfique ; Secrier, Maria ; Lashley, Tammaryn ; Ule, Jernej ; Buratti, Emanuele ; Humphrey, Jack ; Ward, Michael E ; Fratta, PietroNature (London), 2022-03, Vol.603 (7899), p.131-137 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Frontotemporal dementiaBang, Jee, MD ; Spina, Salvatore, MD ; Miller, Bruce L, ProfThe Lancet (British edition), 2015-10, Vol.386 (10004), p.1672-1682 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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FUS and TDP-43 Phases in Health and DiseasePortz, Bede ; Lee, Bo Lim ; Shorter, JamesTrends in biochemical sciences (Amsterdam. Regular ed.), 2021-07, Vol.46 (7), p.550-563 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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Decoding ALS: from genes to mechanismTaylor, J Paul ; Brown, Jr, Robert H ; Cleveland, Don WNature (London), 2016-11, Vol.539 (7628), p.197-206 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less OrganellesLee, Kyung-Ha ; Zhang, Peipei ; Kim, Hong Joo ; Mitrea, Diana M. ; Sarkar, Mohona ; Freibaum, Brian D. ; Cika, Jaclyn ; Coughlin, Maura ; Messing, James ; Molliex, Amandine ; Maxwell, Brian A. ; Kim, Nam Chul ; Temirov, Jamshid ; Moore, Jennifer ; Kolaitis, Regina-Maria ; Shaw, Timothy I. ; Bai, Bing ; Peng, Junmin ; Kriwacki, Richard W. ; Taylor, J. PaulCell, 2016-10, Vol.167 (3), p.774-788.e17 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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C9orf72-mediated ALS and FTD: multiple pathways to diseaseBalendra, Rubika ; Isaacs, Adrian MNature reviews. Neurology, 2018-09, Vol.14 (9), p.544-558 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Progranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement ActivationLui, Hansen ; Zhang, Jiasheng ; Makinson, Stefanie R. ; Cahill, Michelle K. ; Kelley, Kevin W. ; Huang, Hsin-Yi ; Shang, Yulei ; Oldham, Michael C. ; Martens, Lauren Herl ; Gao, Fuying ; Coppola, Giovanni ; Sloan, Steven A. ; Hsieh, Christine L. ; Kim, Charles C. ; Bigio, Eileen H. ; Weintraub, Sandra ; Mesulam, Marek-Marsel ; Rademakers, Rosa ; Mackenzie, Ian R. ; Seeley, William W. ; Karydas, Anna ; Miller, Bruce L. ; Borroni, Barbara ; Ghidoni, Roberta ; Farese, Robert V. ; Paz, Jeanne T. ; Barres, Ben A. ; Huang, Eric J.Cell, 2016-05, Vol.165 (4), p.921-935 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteinsMizielinska, Sarah ; Grönke, Sebastian ; Niccoli, Teresa ; Ridler, Charlotte E. ; Clayton, Emma L. ; Devoy, Anny ; Moens, Thomas ; Norona, Frances E. ; Woollacott, Ione O. C. ; Pietrzyk, Julian ; Cleverley, Karen ; Nicoll, Andrew J. ; Pickering-Brown, Stuart ; Dols, Jacqueline ; Cabecinha, Melissa ; Hendrich, Oliver ; Fratta, Pietro ; Fisher, Elizabeth M. C. ; Partridge, Linda ; Isaacs, Adrian M.Science (American Association for the Advancement of Science), 2014-09, Vol.345 (6201), p.1192-1194 [Periódico revisado por pares]United States: American Association for the Advancement of ScienceTexto completo disponível |
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Material Type: Artigo
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Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALSDeJesus-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, RosaNeuron (Cambridge, Mass.), 2011-10, Vol.72 (2), p.245-256 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |