Sökresultat

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia av Marka van Blitterswijk, Mariely DeJesus‐Hernandez, Rosa Rademakers

Hämta fulltext

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS av Ana Jovičić, Jérôme Mertens, Steven Boeynaems, Elke Bogaert, Noori Chai, Shizuka Yamada, Joseph W. Paul, Shuying Sun, Joseph R. Herdy, Gregor Bieri, Nicholas J. Kramer, Fred H. Gage, Ludo Van Den Bosch, Wim Robberecht, Aaron D. Gitler

Hämta fulltext

Cortical Function in Asymptomatic Carriers and Patients With<i>C9orf72</i>Amyotrophic Lateral Sclerosis av Nimeshan Geevasinga, Parvathi Menon, Garth A. Nicholson, Karl Ng, James Howells, Jillian J. Kril, Con Yiannikas, Matthew C. Kiernan, Steve Vucic

Hämta fulltext Hämta fulltext

Genetics of Familial Amyotrophic Lateral Sclerosis av Feneberg Emily, J. Joanna, Johnathan Cooper‐Knock, J. Pamela, Janine Kirby

Hämta fulltext Hämta fulltext

<i>C9ORF72</i> repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits av Jeannie Chew, Tania F. Gendron, Mercedes Prudencio, Hiroki Sasaguri, Yong‐Jie Zhang, Monica Castanedes‐Casey, Chris W. Lee, Karen Jansen‐West, Aishe Kurti, Melissa E. Murray, Kevin F. Bieniek, Peter Bauer, Ena C. Whitelaw, Linda Rousseau, Jeannette N. Stankowski, Caroline Stetler, Lillian M. Daughrity, Emilie A. Perkerson, Pamela Desaro, Amelia Johnston, Karen Overstreet, Dieter Edbauer, Rosa Rademakers, Khrista Boylan, Dennis W. Dickson, John Denis Fryer, Leonard Petrucelli

Hämta fulltext Hämta fulltext

Jump from Pre-mutation to Pathologic Expansion in C9orf72 av Zhengrui Xi, Marka van Blitterswijk, Ming Zhang, Philip McGoldrick, Jesse R. McLean, Yana Yunusova, Erin Knock, Danielle Moreno, Christine Sato, Paul M. McKeever, Raphaël Schneider, Julia Keith, Nicolae Petrescu, Paul E. Fraser, Maria Carmela Tartaglia, Matthew Baker, Neill R. Graff‐Radford, Khrista Boylan, Dennis W. Dickson, Ian R. Mackenzie, Rosa Rademakers, Janice Robertson, Lorne Zinman, Ekaterina Rogaeva

Hämta fulltext Hämta fulltext

Frontotemporal lobar degeneration with TDP‐43 proteinopathy and chromosome 9p repeat expansion in <i>C9ORF72</i>: clinicopathologic correlation av Eileen H. Bigio, Sandra Weıntraub, Rosa Rademakers, Matt Baker, Saman Ahmadian, Alfred Rademaker, Bing Bing Weitner, Qinwen Mao, K.‐J. Lee, Manjari Mishra, Rakhee Ganti, M‐Marsel Mesulam

Hämta fulltext

<scp><i>C9orf72</i></scp> and <scp><i>UNC13A</i></scp> are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome‐wide meta‐analysis av Frank P. Diekstra, Vivianna M. Van Deerlin, John C. van Swieten, Ammar Al‐Chalabi, Albert C. Ludolph, Jochen H. Weishaupt, Orla Hardiman, John E. Landers, Robert H. Brown, Michael A. van Es, R. Jeroen Pasterkamp, Max Koppers, Peter M. Andersen, Karol Estrada, Fernando Rivadeneira, Albert Hofman, André G. Uitterlinden, Philip Van Damme, Judith Melki, Vincent Meininger, Aleksey Shatunov, Christopher E. Shaw, P. Nigel Leigh, Pamela J. Shaw, Karen Morrison, Isabella Fogh, Adriano Chió, Bryan J. Traynor, David Czell, Markus Weber, Peter Heutink, Paul I. W. de Bakker, Vincenzo Silani, Wim Robberecht, Leonard H. van den Berg, Jan H. Veldink

Hämta fulltext

Aggregation of neurologic and neuropsychiatric disease in amyotrophic lateral sclerosis kindreds: A population‐based case–control cohort study of familial and sporadic amyotrophic... av Susan Byrne, Mark Heverin, Marwa Elamin, Peter Bede, Catherine Lynch, Kevin P. Kenna, Russell MacLaughlin, Cathal Walsh, Ammar Al‐Chalabi, Orla Hardiman

Hämta fulltext Hämta fulltext

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers av Tania F. Gendron, Marka van Blitterswijk, Kevin F. Bieniek, Lillian M. Daughrity, Jie Jiang, Beth Rush, Otto Pedraza, John A. Lucas, Melissa E. Murray, Pamela Desaro, A. Robertson, Karen Overstreet, Colleen S. Thomas, Julia E. Crook, Monica Castanedes‐Casey, Linda Rousseau, Keith A. Josephs, Joseph E. Parisi, David S. Knopman, Ronald C. Petersen, Bradley F. Boeve, Neill R. Graff‐Radford, Rosa Rademakers, Clotilde Lagier‐Tourenne, Dieter Edbauer, Don W. Cleveland, Dennis W. Dickson, Leonard Petrucelli, Khrista Boylan

Hämta fulltext Hämta fulltext

Isoform‐specific antibodies reveal distinct subcellular localizations of <scp>C</scp>9orf72 in amyotrophic lateral sclerosis av Shangxi Xiao, Laura MacNair, Philip McGoldrick, Paul M. McKeever, Jesse R. McLean, Ming Zhang, Julia Keith, Lorne Zinman, Ekaterina Rogaeva, Janice Robertson

Hämta fulltext Hämta fulltext

Spinocerebellar Ataxia Type 6 Protein Aggregates Cause Deficits in Motor Learning and Cerebellar Plasticity av Melanie D. Mark, Martin Krause, Henk‐Jan Boele, Wolfgang Kruse, Sibyll Pollok, Thomas Kuner, Deniz Dalkara, Sylvie M. Koekkoek, Chris I. De Zeeuw, Stefan Herlitze

Hämta fulltext Hämta fulltext

<i>C9ORF72</i> Intermediate Repeat Copies Are a Significant Risk Factor for Parkinson Disease av Karen Nuytemans, Güney Bademci, Martin M. Kohli, Gary W. Beecham, Liyong Wang, Juan I. Young, Fatta B. Nahab, Eden R. Martin, John R. Gilbert, Michael Benatar, Jonathan L. Haines, William K. Scott, Stephan Züchner, Margaret A. Pericak‐Vance, Jeffery M. Vance

Hämta fulltext Hämta fulltext

Accumulation of dipeptide repeat proteins predates that of <scp>TDP</scp>‐43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in <scp><i>C9ORF7... av Atik Baborie, Timothy D. Griffiths, Evelyn Jaros, Robert Perry, Ian G. McKeith, David J. Burn, Masami Masuda‐Suzukake, Masato Hasegawa, Sara Rollinson, Stuart Pickering‐Brown, Andrew Robinson, Yvonne S. Davidson, David Mann

Hämta fulltext Hämta fulltext

Frontotemporal dementia: a bridge between dementia and neuromuscular disease av Adeline Su Lyn Ng, Rosa Rademakers, Bruce L. Miller

Hämta fulltext

Distinct Neurodegenerative Changes in an Induced Pluripotent Stem Cell Model of Frontotemporal Dementia Linked to Mutant TAU Protein av Marc Ehrlich, Anna-Lena Hallmann, Peter Reinhardt, Marcos J. Araúzo‐Bravo, Sabrina Korr, Albrecht Röpke, Olympia E. Psathaki, Petra Ehling, Sven G. Meuth, Adrian L. Oblak, Jill R. Murrell, Bernardino Ghetti, Holm Zaehres, Hans R. Schöler, Jared Sterneckert, Tanja Kuhlmann, Gunnar Hargus

Hämta fulltext

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport av Brian D. Freibaum, Yubing Lu, Rodrigo López‐González, Nam Chul Kim, Sandra Almeida, Kyung‐Ha Lee, Nisha M. Badders, Marc Valentine, Bruce L. Miller, Philip C. Wong, Leonard Petrucelli, Hong Joo Kim, Fen‐Biao Gao, J. Paul Taylor

Hämta fulltext

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport av Ke Zhang, Christopher J. Donnelly, Aaron R. Haeusler, Jonathan C. Grima, James B. Machamer, Peter Steinwald, Elizabeth L. Daley, Sean Miller, Kathleen M. Cunningham, Svetlana Vidensky, Saksham Gupta, M. Albert 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

Hämta fulltext

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72 av Marka van Blitterswijk, Tania F. Gendron, Matthew 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, Khrista Boylan, Dennis W. Dickson, Rosa Rademakers

Hämta fulltext

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter av Ilse Gijselinck, Sara Van Mossevelde, Julie van der Zee, Anne Sieben, Sebastiaan Engelborghs, Jan De Bleecker, Adrian Ivanoiu, Olivier Deryck, Dieter Edbauer, M. Zhang, Bavo Heeman, Veerle Bäumer, Marleen Van den Broeck, Maria Mattheijssens, Karin Peeters, Ekaterina Rogaeva, Peter De Jonghe, Patrick Cras, J-J Martin, Peter P. De Deyn, Marc Cruts, Christine Van Broeckhoven

Hämta fulltext Hämta fulltext