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MJFF Publications

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231 - 240 of 6324 Results
Title
Year
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  • Indirect tolerability comparison of Deutetrabenazine and Tetrabenazine for Huntington disease
    2017
    Summary Details
    OPEN
    Title: Indirect tolerability comparison of Deutetrabenazine and Tetrabenazine for Huntington disease
    Author(s): Daniel O. Claassen, Benjamin Carroll, Lisa M. De Boer, Eric Q. Wu, Rajeev Ayyagari, Sanjay Gandhi, David Stamler
    Journal Name: Journal of Clinical Movement Disorders
    Publisher: Springer Science and Business Media LLC
    Vol: 4
    Issue #: 1
    Start Page:
    End Page:
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1186/s40734-017-0051-5
    Best OA location URL: https://clinicalmovementdisorders.biomedcentral.com/track/pdf/10.1186/s40734-017-0051-5
    Citation Count: 87
  • Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease)
    2011
    Summary Details
    OPEN
    Title: Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease)
    Author(s): Jennifer M. Kwon, Heather Adams, Paul G. Rothberg, Erika F. Augustine, Frederick J. Marshall, Elisabeth A. deBlieck, Amy Vierhile, Christopher A. Beck, Nicole Newhouse, Jennifer Cialone, E. Levy, Denia Ramirez‐Montealegre, Leon Dure, Katherine Rose, Jonathan W. Mink
    Journal Name: Neurology
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Vol: 77
    Issue #: 20
    Start Page: 1801
    End Page: 1807
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1212/wnl.0b013e318237f649
    Best OA location URL: https://n.neurology.org/content/neurology/77/20/1801.full.pdf
    Citation Count: 56
  • TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD
    2018
    Summary Details
    OPEN
    Title: TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD
    Author(s): Ching-Chieh Chou, Yi Zhang, Mfon Umoh, Spencer Vaughan, Ileana Lorenzini, Feilin Liu, Melissa Sayegh, Paul G. Donlin‐Asp, Yu Han Chen, Duc M. Duong, Nicholas T. Seyfried, Maureen A. Powers, Thomas Kukar, Chadwick M. Hales, Marla Gearing, Nigel J. Cairns, Khrista Boylan, Dennis W. Dickson, Rosa Rademakers, Yong‐Jie Zhang, Leonard Petrucelli, Rita Sattler, Daniela C. Zarnescu, Jonathan D. Glass, Wilfried Rossoll
    Journal Name: Nature Neuroscience
    Publisher: Springer Science and Business Media LLC
    Vol: 21
    Issue #: 2
    Start Page: 228
    End Page: 239
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1038/s41593-017-0047-3
    Best OA location URL: https://www.nature.com/articles/s41593-017-0047-3.pdf
    Citation Count: 527
  • GFAP mutations, age at onset, and clinical subtypes in Alexander disease
    2011
    Summary Details
    OPEN
    Title: GFAP mutations, age at onset, and clinical subtypes in Alexander disease
    Author(s): Morgan J. Prust, Jiaxian Wang, Hiroki Morizono, Albee Messing, Michael Brenner, Edgar Gordon, T. Hartka, Alexander Sokohl, Raphael Schiffmann, Heather Gordish‐Dressman, Roger L. Albin, Hernán Amartino, Kathrin Brockman, Argirios Dinopoulos, Maria Teresa Dotti, Daniel Fain, Ricardo Suárez Fernández, J Ferreira, Jon L. Fleming, Deepak Gill, Martin Griebel, Heidi A. Heilstedt, P A Kaplan, D. Lewis, M. Nakagawa, R.C. Pedersen, Alyssa Reddy, Yukio Sawaishi, Martina Schneider, Elliott H. Sherr, Yoshihisa Takiyama, K Wakabayashi, J. R. Gorospe, Adeline Vanderver
    Journal Name: Neurology
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Vol: 77
    Issue #: 13
    Start Page: 1287
    End Page: 1294
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1212/wnl.0b013e3182309f72
    Best OA location URL: https://n.neurology.org/content/neurology/77/13/1287.full.pdf
    Citation Count: 230
  • Murine models of acute neuronopathic Gaucher disease
    2007
    Summary Details
    OPEN
    Title: Murine models of acute neuronopathic Gaucher disease
    Author(s): Ida Enquist, Christophe Lo Bianco, Andreas Ooka, Eva Nilsson, Jan‐Eric Månsson, Mats Ehinger, Johan Richter, Roscoe O. Brady, Deniz Kirik, Stefan Karlsson
    Journal Name: Proceedings of the National Academy of Sciences
    Publisher: Proceedings of the National Academy of Sciences
    Vol: 104
    Issue #: 44
    Start Page: 17483
    End Page: 17488
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1073/pnas.0708086104
    Citation Count: 188
  • TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers
    2010
    Summary Details
    OPEN
    Title: TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers
    Author(s): NiCole A. Finch, Minerva M. Carrasquillo, Matthew Baker, Nicola J. Rutherford, Giovanni Coppola, Mariely DeJesus‐Hernandez, Richard Crook, T. Hunter, Roberta Ghidoni, Luisa Benussi, Julia E. Crook, Elizabeth Finger, K.J. Hantanpaa, Anna M. Karydas, Pheth Sengdy, John Gonzalez, William W. Seeley, Nancy Johnson, Thomas G. Beach, Marsel Mesulam, Gianluigi Forloni, Andrew Kertesz, David S. Knopman, Ryan J. Uitti, Charles L. White, Richard J. Caselli, Carol F. Lippa, Eileen H. Bigio, Zbigniew K. Wszołek, Giuliano Binetti, Ian R. Mackenzie, Bruce L. Miller, Bradley F. Boeve, Steven G. Younkin, Dennis W. Dickson, Ronald C. Petersen, Neill R. Graff‐Radford, Daniel H. Geschwind, Rosa Rademakers
    Journal Name: Neurology
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Vol: 76
    Issue #: 5
    Start Page: 467
    End Page: 474
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1212/wnl.0b013e31820a0e3b
    Best OA location URL: https://n.neurology.org/content/neurology/76/5/467.full.pdf
    Citation Count: 235
  • Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
    2010
    Summary Details
    OPEN
    Title: Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
    Author(s): Vivianna M. Van Deerlin, Patrick Sleiman, Maria Martinez‐Lage, Alice Chen‐Plotkin, Li-San Wang, Neill R. Graff‐Radford, Dennis W. Dickson, Rosa Rademakers, Bradley F. Boeve, Murray Grossman, Steven E. Arnold, David Mann, Stuart Pickering‐Brown, Harro Seelaar, Peter Heutink, John C. van Swieten, Jill R. Murrell, Bernardino Ghetti, Salvatore Spina, Jordan Grafman, John R. Hodges, Maria Grazia Spillantini, Sid Gilman, Andrew P. Lieberman, Jeffrey Kaye, Randall L. Woltjer, Eileen H. Bigio, Marsel Mesulam, Safa Al‐Sarraj, Claire Troakes, Roger N. Rosenberg, Charles L. White, Isidró Ferrer, Albert Lladó, Manuela Neumann, Hans A. Kretzschmar, Christine M. Hulette, Kathleen A. Welsh‐Bohmer, Bruce L. Miller, Ainhoa Alzualde, Adolfo López de Munain, Ann C. McKee, Marla Gearing, Allan I. Levey, James J. Lah, John Hardy, Jonathan D. Rohrer, Tammaryn Lashley, Ian R. Mackenzie, Howard Feldman, Ronald L. Hamilton, Steven T. DeKosky, Julie van der Zee, Samir Kumar‐Singh, Christine Van Broeckhoven, Richard Mayeux, Jean Paul Vonsattel, Juan C. Troncoso, Jillian J. Kril, John B. Kwok, Glenda M. Halliday, Thomas D. Bird, Paul G. Ince, Pamela J. Shaw, Nigel J. Cairns, John C. Morris, Catriona McLean, Charles DeCarli, William G. Ellis, Stefanie H. Freeman, Matthew P. Frosch, John H. Growdon, Daniel P. Perl, Mary Sano, David A. Bennett, Julie A. Schneider, Thomas G. Beach, Eric M. Reiman, Bryan K. Woodruff, Jeffrey L. Cummings, Harry V. Vinters, Carol A. Miller, Helena C. Chui, Irina Alafuzoff, Päivi Hartikainen, Danielle Seilhean, Douglas Galasko, Eliezer Masliah, Carl W. Cotman, MJ Tuñón, Mònica Martínez, David G. Muñoz, Steven L. Carroll, Daniel Marson, Peter Riederer, Nenad Bogdanović, Daniela Berg, Hákon Hákonarson, John Q. Trojanowski, Virginia M.‐Y. Lee
    Journal Name: Nature Genetics
    Publisher: Springer Science and Business Media LLC
    Vol: 42
    Issue #: 3
    Start Page: 234
    End Page: 239
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1038/ng.536
    Best OA location URL: https://research.vu.nl/en/publications/84f83b44-8218-449b-8492-6fc07730d692
    Citation Count: 567
  • SAMTOR is anS-adenosylmethionine sensor for the mTORC1 pathway
    2017
    Summary Details
    OPEN
    Title: SAMTOR is anS-adenosylmethionine sensor for the mTORC1 pathway
    Author(s): Xin Gu, Jose M. Orozco, Robert A. Saxton, Kendall J. Condon, Grace Y. Liu, Patrycja A. Krawczyk, Sonia M. Scaria, J. Wade Harper, Steven P. Gygi, David M. Sabatini
    Journal Name: Science
    Publisher: American Association for the Advancement of Science (AAAS)
    Vol: 358
    Issue #: 6364
    Start Page: 813
    End Page: 818
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1126/science.aao3265
    Best OA location URL: https://science.sciencemag.org/content/sci/358/6364/813.full.pdf
    Citation Count: 463
  • Infiltration of CD4+ lymphocytes into the brain contributes to neurodegeneration in a mouse model of Parkinson disease
    2008
    Summary Details
    OPEN
    Title: Infiltration of CD4+ lymphocytes into the brain contributes to neurodegeneration in a mouse model of Parkinson disease
    Author(s): Vanessa Brochard, Béhazine Combadière, Annick Prigent, Yasmina Laouar, Aline Perrin, Virginie Beray‐Berthat, Olivia Bonduelle, Daniel Alvarez‐Fischer, Jacques Callebert, Jean-Marie Launay, Charles Duyckaerts, Richard A. Flavell, Étienne C. Hirsch, Stéphane Hunot
    Journal Name: Journal of Clinical Investigation
    Publisher: American Society for Clinical Investigation
    Vol:
    Issue #:
    Start Page:
    End Page:
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1172/jci36470
    Best OA location URL: http://doi.org/10.1172/JCI36470
    Citation Count: 1099
  • Archaerhodopsin variants with enhanced voltage-sensitive fluorescence in mammalian and Caenorhabditis elegans neurons
    2014
    Summary Details
    OPEN
    Title: Archaerhodopsin variants with enhanced voltage-sensitive fluorescence in mammalian and Caenorhabditis elegans neurons
    Author(s): Nicholas C. Flytzanis, Claire N. Bedbrook, Hui Chiu, Martin K. M. Engqvist, Cheng Xiao, Ken Y. Chan, Paul W. Sternberg, Frances H. Arnold, Viviana Gradinaru
    Journal Name: Nature Communications
    Publisher: Springer Science and Business Media LLC
    Vol: 5
    Issue #: 1
    Start Page:
    End Page:
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1038/ncomms5894
    Best OA location URL: https://www.nature.com/articles/ncomms5894.pdf
    Citation Count: 136
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