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MJFF Publications

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1191 - 1200 of 6324 Results
Title
Year
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  • Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
    2020
    Summary Details
    OPEN
    Title: Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
    Author(s): Dora Steel, Michael Zech, Chen Zhao, Katy Barwick, Derek Burke, Diane Demailly, Kishore R. Kumar, Giovanna Zorzi, Nardo Nardocci, Rauan Kaiyrzhanov, Matias Wagner, Arcangela Iuso, Riccardo Berutti, Matěj Škorvánek, Ján Necpál, Ryan L. Davis, Sarah Wiethoff, Kshitij Mankad, Sniya Sudhakar, Arianna Ferrini, Suvasini Sharma, Erik‐Jan Kamsteeg, Marina A.J. Tijssen, Corien Verschuuren, Martje E. van Egmond, Joanna M. Flowers, Meriel McEntagart, Arianna Tucci, Philippe Coubes, Bernabé I. Bustos, Paulina González-Latapí, Stephen Tisch, Paul Darveniza, Kathleen M. Gorman, Kathryn J. Peall, Kai Bötzel, Jan Christoph Koch, Tomasz Kmieć, Barbara Plecko, Sylvia Boesch, Bernhard Haslinger, Robert Jech, Barbara Garavaglia, Nicholas Wood, Henry Houlden, Paul Gissen, Steven Lubbe, Carolyn M. Sue, Laura Cif, Niccolò E. Mencacci, Glenn Anderson, Manju A. Kurian, Juliane Winkelmann
    Journal Name: Annals of Neurology
    Publisher: Wiley
    Vol: 88
    Issue #: 5
    Start Page: 867
    End Page: 877
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1002/ana.25879
    Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ana.25879
    Citation Count: 93
  • Proteomic identification of proteins in the human brain: Towards a more comprehensive understanding of neurodegenerative disease
    2008
    Summary Details
    OPEN
    Title: Proteomic identification of proteins in the human brain: Towards a more comprehensive understanding of neurodegenerative disease
    Author(s): W. Michael Caudle, Sheng Pan, Min Shi, Thomas J. Quinn, Jake G. Hoekstra, Richard P. Beyer, Thomas J. Montine, Jing Zhang
    Journal Name: PROTEOMICS – Clinical Applications
    Publisher: Wiley
    Vol: 2
    Issue #: 10-11
    Start Page: 1484
    End Page: 1497
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1002/prca.200800043
    Citation Count: 27
  • From structure to ætiology: a new window on the biology of leucine-rich repeat kinase 2 and Parkinson's disease
    2021
    Summary Details
    OPEN
    Title: From structure to ætiology: a new window on the biology of leucine-rich repeat kinase 2 and Parkinson's disease
    Author(s): Susanne Herbst, Patrick A. Lewis
    Journal Name: Biochemical Journal
    Publisher: Portland Press Ltd.
    Vol: 478
    Issue #: 14
    Start Page: 2945
    End Page: 2951
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1042/bcj20210383
    Best OA location URL: https://portlandpress.com/biochemj/article-pdf/478/14/2945/918073/bcj-2021-0383.pdf
    Citation Count: 5
  • A novel homozygous KY variant causing a complex neurological disorder
    2020
    Summary Details
    OPEN
    Title: A novel homozygous KY variant causing a complex neurological disorder
    Author(s): Beenish Arif, Arisha Rasheed, Kishore R. Kumar, Amara Fatima, Ghazanfar Abbas, Elizabeth Wohler, Nara Sobriera, Katja Lohmann, Sadaf Naz
    Journal Name: European Journal of Medical Genetics
    Publisher: Elsevier BV
    Vol: 63
    Issue #: 11
    Start Page: 104031
    End Page: 104031
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1016/j.ejmg.2020.104031
    Best OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/7554104
    Citation Count: 5
  • Cerebrospinal fluid amyloid β and tau in LRRK2 mutation carriers
    2011
    Summary Details
    OPEN
    Title: Cerebrospinal fluid amyloid β and tau in LRRK2 mutation carriers
    Author(s): Jan Aasly, Min Shi, Vesna Sossi, Tessandra Stewart, Krisztina K. Johansen, Zbigniew K. Wszołek, Ryan J. Uitti, Kazuko Hasegawa, T. Yokoyama, Cyrus P. Zabetian, H. M. Kim, James B. Leverenz, Carmen Ginghină, Jeff Armaly, Karen L. Edwards, Katherine W. Snapinn, A. Jon Stoessl, J. Zhang
    Journal Name: Neurology
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Vol: 78
    Issue #: 1
    Start Page: 55
    End Page: 61
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1212/wnl.0b013e31823ed101
    Best OA location URL: https://n.neurology.org/content/neurology/78/1/55.full.pdf
    Citation Count: 39
  • Pearls & Oy-sters: Functional MRI
    2012
    Summary Details
    OPEN
    Title: Pearls & Oy-sters: Functional MRI
    Author(s): Peter Pressman, Darren R. Gitelman
    Journal Name: Neurology
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Vol: 78
    Issue #: 10
    Start Page:
    End Page:
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1212/wnl.0b013e318248e57a
    Best OA location URL: https://n.neurology.org/content/neurology/78/10/e68.full.pdf
    Citation Count: 1
  • Citalopram for the Treatment of Agitation in Alzheimer Dementia
    2015
    Summary Details
    OPEN
    Title: Citalopram for the Treatment of Agitation in Alzheimer Dementia
    Author(s): Matthew E. Peters, Vijay Vaidya, Lea T. Drye, Davangere P. Devanand, Jacobo Mintzer, Bruce G. Pollock, Anton P. Porsteinsson, Paul B. Rosenberg, Lon S. Schneider, David Shade, Daniel Weintraub, Jerome A. Yesavage, Constantine G. Lyketsos, Dimitri Avramopoulos
    Journal Name: Journal of Geriatric Psychiatry and Neurology
    Publisher: SAGE Publications
    Vol: 29
    Issue #: 2
    Start Page: 59
    End Page: 64
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1177/0891988715601735
    Best OA location URL: http://doi.org/10.1177/0891988715601735
    Citation Count: 10
  • LRRK2 and the Stress Response: Interaction with MKKs and JNK-Interacting Proteins
    2010
    Summary Details
    OPEN
    Title: LRRK2 and the Stress Response: Interaction with MKKs and JNK-Interacting Proteins
    Author(s): Cindy H. Hsu, Diane Chan, Benjamin Wolozin
    Journal Name: Neurodegenerative Diseases
    Publisher: S. Karger AG
    Vol: 7
    Issue #: 1-3
    Start Page: 68
    End Page: 75
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1159/000285509
    Best OA location URL: https://karger.com/ndd/article-pdf/7/1-3/68/3138541/000285509.pdf
    Citation Count: 60
  • MRI-based brain atrophy rates in ADNI phase 2: acceleration and enrichment considerations for clinical trials
    2015
    Summary Details
    OPEN
    Title: MRI-based brain atrophy rates in ADNI phase 2: acceleration and enrichment considerations for clinical trials
    Author(s): Xue Hua, Christopher R. K. Ching, Adam Mezher, Boris A. Gutman, Derrek P. Hibar, Priya Bhatt, Alex Leow, Clifford R. Jack, Matt A. Bernstein, Michael W. Weiner, Paul M. Thompson
    Journal Name: Neurobiology of Aging
    Publisher: Elsevier BV
    Vol: 37
    Issue #:
    Start Page: 26
    End Page: 37
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by-nc-nd
    DOI - Digital Object Identifier: 10.1016/j.neurobiolaging.2015.09.018
    Best OA location URL: https://www.sciencedirect.com/science/article/am/pii/S0197458015004753
    Citation Count: 47
  • Highlights of the Stockholm Congress: A Clinician's Perspective
    2014
    Summary Details
    OPEN
    Title: Highlights of the Stockholm Congress: A Clinician's Perspective
    Author(s): Oscar S. Gershanik
    Journal Name: Movement Disorders Clinical Practice
    Publisher: Wiley
    Vol: 1
    Issue #: 4
    Start Page: 277
    End Page: 279
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1002/mdc3.12093
    Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mdc3.12093
    Citation Count: 0
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