Works by Ranum P


Results: 28
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    Staufen Impairs Autophagy in Neurodegeneration.

    Published in:
    Annals of Neurology, 2023, v. 93, n. 2, p. 398, doi. 10.1002/ana.26515
    By:
    • Paul, Sharan;
    • Dansithong, Warunee;
    • Gandelman, Mandi;
    • Figueroa, Karla P.;
    • Zu, Tao;
    • Ranum, Laura P. W.;
    • Scoles, Daniel R.;
    • Pulst, Stefan M.
    Publication type:
    Article
    3

    Compound loss of muscleblind-like function in myotonic dystrophy.

    Published in:
    EMBO Molecular Medicine, 2013, v. 5, n. 12, p. 1887, doi. 10.1002/emmm.201303275
    By:
    • Lee, Kuang‐Yung;
    • Li, Moyi;
    • Manchanda, Mini;
    • Batra, Ranjan;
    • Charizanis, Konstantinos;
    • Mohan, Apoorva;
    • Warren, Sonisha A.;
    • Chamberlain, Christopher M.;
    • Finn, Dustin;
    • Hong, Hannah;
    • Ashraf, Hassan;
    • Kasahara, Hideko;
    • Ranum, Laura P. W.;
    • Swanson, Maurice S.
    Publication type:
    Article
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    Spectrin mutations cause spinocerebellar ataxia type 5.

    Published in:
    Nature Genetics, 2006, v. 38, n. 2, p. 184, doi. 10.1038/ng1728
    By:
    • Ikeda, Yoshio;
    • Dick, Katherine A.;
    • Weatherspoon, Marcy R.;
    • Gincel, Dan;
    • Armbrust, Karen R.;
    • Dalton, Joline C.;
    • Stevanin, Giovanni;
    • Dürr, Alexandra;
    • Zühlke, Christine;
    • Bürk, Katrin;
    • Clark, H. Brent;
    • Brice, Alexis;
    • Rothstein, Jeffrey D.;
    • Schut, Lawrence J.;
    • Day, John W.;
    • Ranum, Laura P. W.
    Publication type:
    Article
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    Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage.

    Published in:
    Human Genetics, 2023, v. 142, n. 12, p. 1747, doi. 10.1007/s00439-023-02611-8
    By:
    • Martins, Sandra;
    • Yahia, Ashraf;
    • Costa, Inês P. D.;
    • Siddig, Hassab E.;
    • Abubaker, Rayan;
    • Koko, Mahmoud;
    • Corral-Juan, Marc;
    • Matilla-Dueñas, Antoni;
    • Brice, Alexis;
    • Durr, Alexandra;
    • Leguern, Eric;
    • Ranum, Laura P. W.;
    • Amorim, António;
    • Elsayed, Liena E. O.;
    • Stevanin, Giovanni;
    • Sequeiros, Jorge
    Publication type:
    Article
    12

    A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.

    Published in:
    PLoS ONE, 2017, v. 12, n. 5, p. 1, doi. 10.1371/journal.pone.0173565
    By:
    • Khare, Swati;
    • Nick, Jerelyn A.;
    • Zhang, Yalan;
    • Galeano, Kira;
    • Butler, Brittany;
    • Khoshbouei, Habibeh;
    • Rayaprolu, Sruti;
    • Hathorn, Tyisha;
    • Ranum, Laura P. W.;
    • Smithson, Lisa;
    • Golde, Todd E.;
    • Paucar, Martin;
    • Morse, Richard;
    • Raff, Michael;
    • Simon, Julie;
    • Nordenskjöld, Magnus;
    • Wirdefeldt, Karin;
    • Rincon-Limas, Diego E.;
    • Lewis, Jada;
    • Kaczmarek, Leonard K.
    Publication type:
    Article
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    SNP Haplotype Mapping in a Small ALS Family.

    Published in:
    PLoS ONE, 2009, v. 4, n. 5, p. 1, doi. 10.1371/journal.pone.0005687
    By:
    • Krueger, Katherine A. Dick;
    • Tsuji, Shoji;
    • Fukuda, Yoko;
    • Takahashi, Yuji;
    • Goto, Jun;
    • Mitsui, Jun;
    • Ishiura, Hiroyuki;
    • Dalton, Joline C.;
    • Miller, Michael B.;
    • Day, John W.;
    • Ranum, Laura P. W.
    Publication type:
    Article
    23
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    Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 10, p. 4217, doi. 10.1093/brain/awad148
    By:
    • Nutter, Curtis A;
    • Kidd, Benjamin M;
    • Carter, Helmut A;
    • Hamel, Johanna I;
    • Mackie, Philip M;
    • Kumbkarni, Nayha;
    • Davenport, Mackenzie L;
    • Tuyn, Dana M;
    • Gopinath, Adithya;
    • Creigh, Peter D;
    • Sznajder, Łukasz J;
    • Wang, Eric T;
    • Ranum, Laura P W;
    • Khoshbouei, Habibeh;
    • Day, John W;
    • Sampson, Jacinda B;
    • Prokop, Stefan;
    • Swanson, Maurice S
    Publication type:
    Article
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    RNA Gain-of-Function in Spinocerebellar Ataxia Type 8.

    Published in:
    PLoS Genetics, 2009, v. 5, n. 8, p. 1, doi. 10.1371/journal.pgen.1000600
    By:
    • Daughters, Randy S.;
    • Tuttle, Daniel L.;
    • Wangcai Gao;
    • Ikeda, Yoshio;
    • Moseley, Melinda L.;
    • Ebner, Timothy J.;
    • Swanson, Maurice S.;
    • Ranum, Laura P. W.
    Publication type:
    Article