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Filtrati per: Argomento: Amyotrophic Lateral Sclerosis rimuovi
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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Cirulli, Elizabeth T ; Lasseigne, Brittany N ; Petrovski, Slavé ; Sapp, Peter C ; Dion, Patrick A ; Leblond, Claire S ; Couthouis, Julien ; Lu, Yi-Fan ; Wang, Quanli ; Krueger, Brian J ; Ren, Zhong ; Keebler, Jonathan ; Han, Yujun ; Levy, Shawn E ; Boone, Braden E ; Wimbish, Jack R ; Waite, Lindsay L ; Jones, Angela L ; Carulli

Science (New York, N.Y.), 27 March 2015, Vol.347(6229), pp.1436-41 [Rivista Peer Reviewed]

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Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS

Kim, Hong Joo ; Kim, Nam Chul ; Wang, Yong-Dong ; Scarborough, Emily A. ; Moore, Jennifer ; Diaz, Zamia ; Maclea, Kyle S. ; Freibaum, Brian ; Li, Songqing ; Molliex, Amandine ; Kanagaraj, Anderson P. ; Carter, Robert ; Boylan, Kevin B. ; Wojtas, Aleksandra M. ; Rademakers, Rosa ; Pinkus, Jack L. ; Greenberg, Steven A. ; Trojanowski, John Q. ; Traynor, Bryan J. ; Smith, Bradley N. ; Topp, Simon ; Gkazi, Athina-Soragia ; Miller, Jack ; Shaw, Christopher E. ; Kottlors, Michael ; Kirschner, Janbernd ; Pestronk, Alan ; Li, Yun R. ; Ford, Alice Flynn ; Gitler, Aaron D. ; Benatar, Michael ; King, Oliver D. ; Kimonis, Virginia E. ; Ross, Eric D. ; Weihl, Conrad C. ; Shorter, James ; Taylor, J. Paul

Kim, H. J., N. C. Kim, Y. Wang, E. A. Scarborough, J. Moore, Z. Diaz, K. S. MacLea, et al. 2013. “Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS.” Nature 495 (7442): 467-473. doi:10.1038/nature11922. http://dx.doi.org/10.1038/nature11922. [Rivista Peer Reviewed]

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The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis

Chen, Han - Jou ; Mitchell, Jacqueline C ; Novoselov, Sergey ; Miller, Jack ; Nishimura, Agnes L ; Scotter, Emma L ; Vance, Caroline A ; Cheetham, Michael E ; Shaw, Christopher E

Brain, 2016, Vol. 139(5), pp.1417-1432 [Rivista Peer Reviewed]

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NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Kevin P Kenna ; Perry T C Van Doormaal ; Annelot M Dekker ; Nicola Ticozzi ; Brendan J Kenna ; Frank P Diekstra ; Wouter Van Rheenen ; Kristel R Van Eijk ; Ashley R Jones ; Pamela Keagle ; Aleksey Shatunov ; William Sproviero ; Bradley N Smith ; Michael A Van Es ; Simon D Topp ; Aoife Kenna ; Jack W Miller ; Claudia Fallini ; Cinzia Tiloca ; Russell L Mclaughlin ; Caroline Vance ; Claire Troakes ; Claudia Colombrita ; Gabriele Mora ; Andrea Calvo ; Federico Verde ; Safa Al-Sarraj ; Andrew King ; Daniela Calini ; Jacqueline De Belleroche ; Frank Baas ; Anneke J Van Der Kooi ; Marianne De Visser ; Anneloor L M A Ten Asbroek ; Peter C Sapp ; Diane Mckenna-Yasek ; Meraida Polak ; Seneshaw Asress ; José Luis Muñoz-Blanco ; Tim M Strom ; Thomas Meitinger ; Karen E Morrison ; Giuseppe Lauria ; Kelly L Williams ; P Nigel Leigh ; Garth A Nicholson ; Ian P Blair ; Claire S Leblond ; Patrick A Dion ; Guy A Rouleau ; Hardev Pall ; Pamela J Shaw ; Martin R Turner ; Kevin Talbot ; Franco Taroni ; Kevin B Boylan ; Marka Van Blitterswijk ; Rosa Rademakers ; Jesús Esteban-Pérez ; Alberto García-Redondo ; Phillip Van Damme ; Wim Robberecht ; Adriano Chio ; Cinzia Gellera ; Carsten Drepper ; Michael Sendtner ; Antonia Ratti ; Jonathan D Glass ; Jesús S Mora ; Nazli A Basak ; Orla Hardiman ; Albert C Ludolph ; Peter M Andersen ; Jochen H Weishaupt ; Robert H Brown Jr ; Ammar Al-Chalabi ; Vincenzo Silani ; Christopher E Shaw ; Leonard H Van Den Berg ; Jan H Veldink ; John E Landers

Nature Genetics, 2016 [Rivista Peer Reviewed]

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Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS

Smith, Bradley N ; Ticozzi, Nicola ; Fallini, Claudia ; Gkazi, Athina Soragia ; Topp, Simon ; Kenna, Kevin P ; Scotter, Emma L ; Kost, Jason ; Keagle, Pamela ; Miller, Jack W ; Calini, Daniela ; Vance, Caroline ; Danielson, Eric W ; Troakes, Claire ; Tiloca, Cinzia ; Al-Sarraj, Safa ; Lewis, Elizabeth A ; King, Andrew ; Colombrita, Claudia ; Pensato

Neuron, 22 October 2014, Vol.84(2), pp.324-31 [Rivista Peer Reviewed]

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The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

Bradley N Smith ; Stephen Newhouse ; Aleksey Shatunov ; Caroline Vance ; Simon Topp ; Lauren Johnson ; Jack Miller ; Younbok Lee ; Claire Troakes ; Kirsten M Scott ; Ashley Jones ; Ian Gray ; Jamie Wright ; Tibor Hortobágyi ; Safa Al-Sarraj ; Boris Rogelj ; John Powell ; Michelle Lupton ; Simon Lovestone ; Peter C Sapp ; Markus Weber ; Peter J Nestor ; Helenius J Schelhaas ; Anneloor Alm Ten Asbroek ; Vincenzo Silani ; Cinzia Gellera ; Franco Taroni ; Nicola Ticozzi ; Leonard Van Den Berg ; Jan Veldink ; Phillip Van Damme ; Wim Robberecht ; Pamela J Shaw ; Janine Kirby ; Hardev Pall ; Karen E Morrison ; Alex Morris ; Jacqueline De Belleroche ; J M B Vianney De Jong ; Frank Baas ; Peter M Andersen ; John Landers ; Robert H Brown ; Michael E Weale ; Ammar Al-Chalabi ; Christopher E Shaw

European Journal of Human Genetics, 2012, Vol.21(1), p.102 [Rivista Peer Reviewed]

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A placebo‐controlled trial of recombinant human ciliary neurotrophic (rhCNTF) factor in amyotrophic lateral sclerosis

Miller, Robert G. ; Petajan, Jack H. ; Bryan, Wilson W. ; Armon, Carmel ; Barohn, Richard J. ; Goodpasture, Jessie C. ; Hoagland, Rebecca J. ; Parry, Gareth J. ; Ross, Mark A. ; Stromatt, Scott C.

Annals of Neurology, February 1996, Vol.39(2), pp.256-260 [Rivista Peer Reviewed]

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Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1

Ahmeti, Kreshnik B ; Ajroud-Driss, Senda ; Al-Chalabi, Ammar ; Andersen, Peter M ; Armstrong, Jennifer ; Birve, Anne ; Blauw, Hylke M ; Brown, Robert H ; Bruijn, Lucie ; Chen, Wenjie ; Chio, Adriano ; Comeau, Mary C ; Cronin, Simon ; Diekstra, Frank P ; Soraya Gkazi, Athina ; Glass, Jonathan D ; Grab, Josh D ; Groen, Ewout J ; Haines, Jonathan L ; Hardiman

Neurobiology of aging, January 2013, Vol.34(1), pp.357.e7-19 [Rivista Peer Reviewed]

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9
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CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Kelly L. Williams ; Simon Topp ; Shu Yang ; Bradley Smith ; Jennifer A. Fifita ; Sadaf T. Warraich ; Katharine Y. Zhang ; Natalie Farrawell ; Caroline Vance ; Xun Hu ; Alessandra Chesi ; Claire S. Leblond ; Albert Lee ; Stephanie L. Rayner ; Vinod Sundaramoorthy ; Carol Dobson-Stone ; Mark P. Molloy ; Marka Van Blitterswijk ; Dennis W. Dickson ; Ronald C. Petersen ; Neill R. Graff-Radford ; Bradley F. Boeve ; Melissa E. Murray ; Cyril Pottier ; Emily Don ; Claire Winnick ; Emily P. Mccann ; Alison Hogan ; Hussein Daoud ; Annie Levert ; Patrick A. Dion ; Jun Mitsui ; Hiroyuki Ishiura ; Yuji Takahashi ; Jun Goto ; Jason Kost ; Cinzia Gellera ; Athina Soragia Gkazi ; Jack Miller ; Joanne Stockton ; William S. Brooks ; Karyn Boundy ; Meraida Polak ; José Luis Muñoz-Blanco ; Jesús Esteban-Pérez ; Alberto Rábano ; Orla Hardiman ; Karen E. Morrison ; Nicola Ticozzi ; Vincenzo Silani ; Jacqueline De Belleroche ; Jonathan D. Glass ; John B. J. Kwok ; Gilles J. Guillemin ; Roger S. Chung ; Shoji Tsuji ; Robert H. Brown Jr ; Alberto García-Redondo ; Rosa Rademakers ; John E. Landers ; Aaron D. Gitler ; Guy A. Rouleau ; Nicholas J. Cole ; Justin J. Yerbury ; Julie D. Atkin ; Christopher E. Shaw ; Garth A. Nicholson ; Ian P. Blair

Nature Communications, 2016, Vol.7 [Rivista Peer Reviewed]

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Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases

Van Rheenen, H.B., Wouter ; Van Blitterswijk, T.C., Marka ; Huisman, J., Mark ; Vlam, J., Lotte ; Van Doormaal, Ludo, Perry ; Seelen, H., Meinie ; Medic, H., Jelena ; Dooijes, Jack, Dennis ; De Visser, Q., Marianne ; Van Der Kooi, W., Anneke ; Raaphorst, C., Joost ; Schelhaas, J., Helenius ; Van Der Pol, G., W. ; Veldink, A., Jan ; Van Den Berg, M., Leonard ; Weiner, J., Michael ; Aisen, M.Y., Paul ; Petersen, M., Ronald ; Clifford, J., R. ; Jagust, S., William ; Trojanowki, M., John ; Toga, L., Arthur ; Beckett, L., Laurel ; Green, S., Robert ; Saykin, L., Andrew ; Morris, C., John ; Liu, A., Enchi ; Montine, C., Tom ; Gamst, J, Anthony ; Thomas, Murali, Ronald ; Donohue, R., Michael ; Walter, E., Sarah ; Gessert, H., Devon ; Sather, D., Tamie ; Beckett, L., Laurel ; Harvey, M., Danielle ; Gamst, Saleem, Anthony ; Donohue, A., Michael ; Kornak, I., John ; Dale, J., Anders ; Bernstein, S., Matthew ; Felmlee, M., Joel ; Fox, S., Nick ; Thompson, H., Paul ; Schuff, H.S., Norbert ; Alexander, H., Gene ; Decarli, R, Charles ; Bandy, M., Dan ; Koeppe, H., Robert ; Foster, E., Norm ; Reiman, G., Eric ; Chen, Robin, Kewei ; Mathis, Scott, Chet ; Cairns, A., Nigel ; Taylor-Reinwald, A., Lisa ; Shaw, O., Les ; Lee, K., Virginia ; Korecka, M., Magdalena ; Crawford, G., Karen ; Neu, A., Scott ; Foroud, W., Tatiana ; Potkin, A., Steven ; Shen, D., Li ; Kachaturian, D., Zaven ; Frank, J., Richard ; Snyder, B., Peter ; Kaye, S., Jeffrey ; Dolen, D., Sara ; Quinn, M., Joseph ; Schneider, R., Lon ; Pawluczyk, J., Sonia ; Spann, L., Bryan ; Brewer, Flynn, James ; Vanderswag, Joo, Helen ; Heidebrink, Chol, Judith ; Lord, Chul, Joanne ; Petersen, Cheon, Ronald ; Johnson, Hong, Kris ; S. Doody, Hwan, Rachelle ; Villanueva-Meyer, Bok, Javier ; Chowdhury, K., Munir ; Stern, Isabel, Yaakov ; Honig, L., Lawrence ; Bell, F., Karen ; Morris, A., John ; Mintun, Y., Mark ; Schneider, T., Stacy ; Marson, Andrade, Daniel ; Griffith, Arriaza, Randall ; Clark, M., David ; Grossman, B., Hillel ; Mitsis, G, Effie ; Romirowsky, J., Aliza ; Detoledo-Morrell, K, Leyla ; Shah, J, Raj ; Duara, L, Ranjan ; Varon, Shier, Daniel ; Roberts, L, Peggy ; Albert, L, Marilyn ; Onyike, L, Chiadi ; Kielb, L, Stephanie ; Rusinek, L, Henry ; De Leon, L, Mony ; Glodzik, L, Lidia ; Doraiswamy, L, P. ; Petrella, L, Jeffrey ; Arnold, L, Steven ; Karlawish, L, Jason ; Wolk, L, David ; Smith, L, Charles ; Jicha, L, Greg ; Hardy, L, Peter ; Lopez, L, Oscar ; Oakley, L, Maryann ; Simpson, L, Donna ; Ismail, L, M. ; Brand, L, Connie ; Mulnard, L, Ruth ; Thai, L, Gaby ; Mc-Adams-Ortiz, L, Catherine ; Diaz-Arrastia, L, Ramon ; Martin-Cook, L, Kristen ; Devous, L, Michael ; Levey, L, Allan ; Lah, L, James ; Cellar, L, Janet ; Burns, L, Jeffrey ; Anderson, L, Heather ; Swerdlow, L, Russell ; Bartzokis, L, George ; Silverman, L, Daniel ; Lu, L, Po ; Apostolova, L, Liana ; Graff-Radford, L, Neill ; Parfitt, L, Francine ; Johnson, L, Heather ; Farlow, L, Martin ; Herring, L, Scott ; Hake, L, Ann ; Van Dyck, L, Christopher ; Carson, L, Richard ; Macavoy, L, Martha ; Chertkow, L, Howard ; Bergman, L, Howard ; Hosein, L, Chris ; Black, L, Sandra ; Stefanovic, L, Bojana ; Caldwell, L, Curtis ; Hsiung, L, Ging-Yuek ; Feldman, L, Howard ; Assaly, L, Michele ; Kertesz, L, Andrew ; Rogers, L, John ; Trost, L, Dick ; Bernick, L, Charles ; Munic, L, Donna ; Wu, L, Chuang-Kuo ; Johnson, L, Nancy ; Mesulam, L, Marsel ; Sadowsky, L, Carl ; Martinez, L, Walter ; Villena, L, Teresa ; Turner, L, Raymond ; Johnson, L, Kathleen ; Reynolds, L, Brigid ; Sperling, L, Reisa ; Frey, L, Meghan ; Johnson, L, Keith ; Rosen, L, Allyson ; Tinklenberg, L, Jared ; Sabbagh, L, Marwan ; Belden, L, Christine ; Jacobson, L, Sandra ; Killiany, L, Ronald ; Norbash, L, Alexander ; Obisesan, L, Thomas ; Wolday, L, Saba ; Bwayo, L, Salome ; Lerner, L, Alan ; Hudson, L, Leon ; Ogrocki, L, Paula ; Decarli, L, Charles ; Fletcher, L, Evan ; Carmichael, L, Owen ; Kittur, L, Smita ; Borrie, L, Michael ; Lee, L, T-Y ; Bartha, L, Rob ; Johnson, L, Sterling ; Asthana, L, Sanjay ; Carlsson, L, Cynthia ; Potkin, L, Steven ; Preda, L, Adrian ; Nguyen, L, Dana ; Tariot, L, Pierre ; Fleisher, L, Adam ; Reeder, L, Stephanie ; Bates, L, Vernice ; Capote, L, Horacio ; Rainka, L, Michelle ; Hendin, L, Barry ; Scharre, L, Douglas ; Kataki, L, Maria ; Zimmerman, L, Earl ; Celmins, L, Dzintra ; Brown, L, Alice ; Pearlson, L, Godfrey ; Blank, L, Karen ; Anderson, L, Karen ; Saykin, L, Andrew ; Santulli, L, Robert ; Schwartz, L, Eben ; Williamson, L, Jeff ; Sink, L, Kaycee ; Watkins, L, Franklin ; Ott, L, Brian ; Querfurth, L, Henry ; Tremont, L, Geoffrey ; Salloway, L, Stephen ; Malloy, L, Paul ; Correia, L, Stephen ; Rosen, L, Howard ; Miller, L, Bruce ; Mintzer, L, Jacobo ; Longmire, L, Crystal ; Spicer, L, Kenneth ; Kwon, L, Sun-Uck ; Kim, L, Joon-Tae ; Cho, L, Ki-Hyun ; Shin, L, Dong-Ick ; Ko, L, Yungchai ; Lee, L, Soo ; Cha, L, Jae-Kwan ; Kim, L, Yong-Jae ; Shin, L, Dong-Jin ; Jang, L, Hyuk ; Choi, L, Nack-Cheon ; Hong, L, Seok-Chang ; Rha, L, Joung-Ho ; Hong, L, Keun-Sik ; Kim, L, Eung-Gyu ; Choi, L, Jay ; Sohn, L, Sung-Il ; Shin, L, Won ; Hyukheo, L, Sung ; Chung, L, Kyung ; Park, L, Jong-Ho ; Lee, L, Jun ; Park, L, Jong-Moo ; Park, L, Tai

Neurology, 2012, Vol.79(9), pp.878-882 [Rivista Peer Reviewed]

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