S
Stacey Melquist
Researcher at Mayo Clinic
Publications - 18
Citations - 4177
Stacey Melquist is an academic researcher from Mayo Clinic. The author has contributed to research in topics: Single-nucleotide polymorphism & Frontotemporal dementia. The author has an hindex of 14, co-authored 16 publications receiving 3741 citations. Previous affiliations of Stacey Melquist include Merck & Co..
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Journal ArticleDOI
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
Matt Baker,Ian R. A. Mackenzie,Stuart Pickering-Brown,Jennifer Gass,Rosa Rademakers,Caroline Lindholm,Julie S. Snowden,Jennifer Adamson,A. Dessa Sadovnick,Sara Rollinson,Ashley Cannon,Emily Dwosh,David Neary,Stacey Melquist,Anna Richardson,Dennis W. Dickson,Zdenek Berger,Jason L. Eriksen,Todd Robinson,Cynthia Zehr,Chad A. Dickey,Richard Crook,Eileen McGowan,David M. A. Mann,Bradley F. Boeve,Howard Feldman,Mike Hutton +26 more
TL;DR: It is demonstrated that in multiple FTD families with significant evidence for linkage to the same region on chromosome 17q21, FTD is caused by mutations in progranulin (PGRN) that are likely to create null alleles and identified mutations in PGRN as a cause of neurodegenerative disease.
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Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration
Jennifer Gass,Ashley Cannon,Ian R. A. Mackenzie,Bradley F. Boeve,Matt Baker,Jennifer Adamson,Richard Crook,Stacey Melquist,Karen M. Kuntz,R. C. Petersen,Keith A. Josephs,Stuart Pickering-Brown,Neill R. Graff-Radford,Ryan J. Uitti,Dennis W. Dickson,Zbigniew K. Wszolek,John Gonzalez,Thomas G. Beach,Eileen H. Bigio,Nancy Johnson,Sandra Weintraub,M.-Marsel Mesulam,Charles L. White,Bryan K. Woodruff,Richard J. Caselli,Ging-Yuek Robin Hsiung,Howard Feldman,Dave S Knopman,Mike Hutton,Rosa Rademakers +29 more
TL;DR: Clinical examination of patients with PGRN mutations revealed highly variable onset ages with language dysfunction as a common presenting symptom, and neuropathological examination showed FTLD with ubiquitin-positive cytoplasmic and intranuclear inclusions in all P GRN mutation carriers.
Journal ArticleDOI
GAB2 Alleles Modify Alzheimer's Risk in APOE ε4 Carriers
Eric M. Reiman,Jennifer Webster,Amanda J. Myers,Amanda J. Myers,John Hardy,John Hardy,Travis Dunckley,Victoria Zismann,Keta Joshipura,John V. Pearson,Diane Hu-Lince,Matthew J. Huentelman,David Craig,Keith D. Coon,Keith D. Coon,Winnie S. Liang,Ri Lee H. Herbert,Thomas G. Beach,Kristen Rohrer,Alice S. Zhao,Doris G. Leung,Leslie Bryden,Lauren Marlowe,Mona Kaleem,Diego Mastroeni,Andrew Grover,Christopher B. Heward,Rivka Ravid,Joseph Rogers,Mike Hutton,Stacey Melquist,R. C. Petersen,Gene E. Alexander,Richard J. Caselli,Walter A. Kukull,Andreas Papassotiropoulos,Andreas Papassotiropoulos,Dietrich A. Stephan +37 more
TL;DR: The findings suggest that GAB2 modifies LOAD risk in APOE epsilon4 carriers and influences Alzheimer's neuropathology.
Journal ArticleDOI
APOE ε4 lowers age at onset and is a high risk factor for Alzheimer's disease; A case control study from central Norway
Sigrid Botne Sando,Stacey Melquist,Ashley Cannon,Mike Hutton,Olav Sletvold,Ingvild Saltvedt,Linda R. White,Stian Lydersen,Jan O. Aasly +8 more
TL;DR: APOE ε4 is a very strong risk factor for AD in the population of central Norway, and lowers age at onset of LOAD significantly, and also shows no significant protective effect against AD.
Journal ArticleDOI
Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options
Albert C. Ludolph,Jan Kassubek,Bernhard Landwehrmeyer,Eva Maria Mandelkow,E. M. Mandelkow,David J. Burn,D. Caparros-Lefebvre,K. A. Frey,J. G. de Yebenes,T. Gasser,Peter Heutink,Günter U. Höglinger,Zygmunt Jamrozik,Kurt A. Jellinger,A. Kazantsev,Hans A. Kretzschmar,Anthony E. Lang,Irene Litvan,J. J. Lucas,Patrick L. McGeer,Stacey Melquist,Wolfgang H. Oertel,Markus Otto,Dominic C. Paviour,T. Reum,A. Saint-Raymond,John C. Steele,Markus Tolnay,Hayrettin Tumani,J. C. van Swieten,M. T. Vanier,Jean Paul G. Vonsattel,S. Wagner,Zbigniew K. Wszolek +33 more
TL;DR: The wide pathologic and clinical spectrum of the tauopathies with parkinsonism is reviewed, and perspectives on future advances in the understanding of the pathogenesis are given, together with potential therapeutic strategies.