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MJFF Publications

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1791 - 1800 of 6255 Results
Title
Year
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  • Genetic variability at the PARK16 locus
    2010
    Summary Details
    OPEN
    Title: Genetic variability at the PARK16 locus
    Author(s): Arianna Tucci, Mike A. Nalls, Henry Houlden, Tamas Revesz, Andrew Singleton, Nicholas Wood, John Hardy, Coro Paisán-Ruiz
    Journal Name: European Journal of Human Genetics
    Publisher: Springer Science and Business Media LLC
    Vol: 18
    Issue #: 12
    Start Page: 1356
    End Page: 1359
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1038/ejhg.2010.125
    Best OA location URL: https://www.nature.com/articles/ejhg2010125.pdf
    Citation Count: 91
  • Identification of candidate genes for familial early-onset essential tremor
    2015
    Summary Details
    OPEN
    Title: Identification of candidate genes for familial early-onset essential tremor
    Author(s): Xinmin Liu, Nora Hernández, Sergey Kisselev, Aris Floratos, Ashley Sawle, Iuliana Ionita‐Laza, Ruth Ottman, Elan D. Louis, Lorraine N. Clark
    Journal Name: European Journal of Human Genetics
    Publisher: Springer Science and Business Media LLC
    Vol: 24
    Issue #: 7
    Start Page: 1009
    End Page: 1015
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1038/ejhg.2015.228
    Best OA location URL: https://www.nature.com/articles/ejhg2015228.pdf
    Citation Count: 39
  • 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
  • Coffee, ADORA2A, and CYP1A2: the caffeine connection in Parkinson’s disease
    2011
    Summary Details
    OPEN
    Title: Coffee, ADORA2A, and CYP1A2: the caffeine connection in Parkinson’s disease
    Author(s): Rita A. Popat, Stephen K. Van Den Eeden, Caroline M. Tanner, Freya Kamel, David M. Umbach, Karen Marder, Richard Mayeux, Beate Ritz, G. Webster Ross, Helen Petrovitch, Barbara Topol, V. McGuire, Sadie Costello, Angelika D. Manthripragada, Audrey Southwick, R Myers, Lorene M. Nelson
    Journal Name: European Journal of Neurology
    Publisher: Wiley
    Vol: 18
    Issue #: 5
    Start Page: 756
    End Page: 765
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1111/j.1468-1331.2011.03353.x
    Best OA location URL: https://europepmc.org/articles/pmc3556904?pdf=render
    Citation Count: 112
  • Lack of evidence for an association between UCHL1 S18Y and Parkinson’s disease
    2008
    Summary Details
    OPEN
    Title: Lack of evidence for an association between UCHL1 S18Y and Parkinson’s disease
    Author(s): Carolyn M. Hutter, Ali Samii, Stewart A. Factor, John G. Nutt, Donald S. Higgins, Thomas D. Bird, Alida Griffith, John W. Roberts, Berta C. Leis, Jennifer S. Montimurro, Denise M. Kay, Karen L. Edwards, Haydeh Payami, Cyrus P. Zabetian
    Journal Name: European Journal of Neurology
    Publisher: Wiley
    Vol: 15
    Issue #: 2
    Start Page: 134
    End Page: 139
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1111/j.1468-1331.2007.02012.x
    Best OA location URL: http://doi.org/10.1111/j.1468-1331.2007.02012.x
    Citation Count: 31
  • Pure hereditary spastic paraplegia due to a de novo mutation in the NIPA1 gene
    2013
    Summary Details
    OPEN
    Title: Pure hereditary spastic paraplegia due to a de novo mutation in the NIPA1 gene
    Author(s): David Arkadir, Anne Noreau, Jill Goldman, Guy A. Rouleau, Roy N. Alcalay
    Journal Name: European Journal of Neurology
    Publisher: Wiley
    Vol: 21
    Issue #: 1
    Start Page:
    End Page:
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1111/ene.12284
    Best OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/4138605
    Citation Count: 8
  • Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis
    2014
    Summary Details
    OPEN
    Title: Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis
    Author(s): Christina Sundal, Matt Baker, Virginija Danylaité Karrenbauer, Marte W. Gustavsen, Sahl Khalid Bedri, Anna Glaser, K-M Myhr, Kristoffer Haugarvoll, Henrik Zetterberg, Hanne F. Harbo, Ingrid Kockum, Jan Hillert, Zbigniew K. Wszołek, Rosa Rademakers, O. Andersen
    Journal Name: European Journal of Neurology
    Publisher: Wiley
    Vol: 22
    Issue #: 2
    Start Page: 328
    End Page: 333
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1111/ene.12572
    Best OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/4289423
    Citation Count: 47
  • Genetic analysis of the FUS/TLS gene in essential tremor
    2012
    Summary Details
    OPEN
    Title: Genetic analysis of the FUS/TLS gene in essential tremor
    Author(s): Nancy L. Parmalee, K. Mirzozoda, Sergey Kisselev, Nancy D. Merner, Patrick A. Dion, Guy A. Rouleau, Lorraine N. Clark, Elan D. Louis
    Journal Name: European Journal of Neurology
    Publisher: Wiley
    Vol: 20
    Issue #: 3
    Start Page: 534
    End Page: 539
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1111/ene.12023
    Best OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/4862621
    Citation Count: 35
  • Phosphorylated TDP‐43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
    2008
    Summary Details
    OPEN
    Title: Phosphorylated TDP‐43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
    Author(s): Masato Hasegawa, Tetsuaki Arai, Takashi Nonaka, Fuyuki Kametani, Mari Yoshida, Yoshio Hashizume, Thomas G. Beach, Emanuele Buratti, Francisco E. Baralle, Mitsuya Morita, Imaharu Nakano, Tatsuro Oda, Kuniaki Tsuchiya, Haruhiko Akiyama
    Journal Name: Annals of Neurology
    Publisher: Wiley
    Vol: 64
    Issue #: 1
    Start Page: 60
    End Page: 70
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1002/ana.21425
    Best OA location URL: http://doi.org/10.1002/ana.21425
    Citation Count: 698
  • Cerebrospinal fluid biomarkers for Parkinson disease diagnosis and progression
    2010
    Summary Details
    OPEN
    Title: Cerebrospinal fluid biomarkers for Parkinson disease diagnosis and progression
    Author(s): Min Shi, Joshua M. Bradner, Aneeka M. Hancock, Kathryn A. Chung, Joseph F. Quinn, Elaine R. Peskind, Douglas Galasko, Joseph Jankovic, Cyrus P. Zabetian, Hojoong M. Kim, James B. Leverenz, Thomas J. Montine, Carmen Ginghină, Un Jung Kang, Kevin C. Cain, Yu Wang, Jan Aasly, David Goldstein, Jing Zhang
    Journal Name: Annals of Neurology
    Publisher: Wiley
    Vol: 69
    Issue #: 3
    Start Page: 570
    End Page: 580
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1002/ana.22311
    Best OA location URL:
    Citation Count: 405
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