Found: 3

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  • Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).

    Published in:
    Human Genetics, 2019, v. 138, n. 11/12, p. 1409, doi. 10.1007/s00439-019-02077-7
    By:
    • Llaci, Lorida;
    • Ramsey, Keri;
    • Belnap, Newell;
    • Claasen, Ana M.;
    • Balak, Chris D.;
    • Szelinger, Szabolcs;
    • Jepsen, Wayne M.;
    • Siniard, Ashley L.;
    • Richholt, Ryan;
    • Izat, Tyler;
    • Naymik, Marcus;
    • De Both, Matt;
    • Piras, Ignazio S.;
    • Craig, David W.;
    • Huentelman, Matthew J.;
    • Narayanan, Vinodh;
    • Schrauwen, Isabelle;
    • Rangasamy, Sampathkumar
    Publication type:
    Article

  • Associations of MAP2K3 Gene Variants With Superior Memory in SuperAgers.

    Published in:
    Frontiers in Aging Neuroscience, 2018, p. 1, doi. 10.3389/fnagi.2018.00155
    By:
    • Huentelman, Matthew J.;
    • Piras, Ignazio S.;
    • Siniard, Ashley L.;
    • De Both, Matthew D.;
    • Richholt, Ryan F.;
    • Balak, Chris D.;
    • Jamshidi, Pouya;
    • Bigio, Eileen H.;
    • Weintraub, Sandra;
    • Loyer, Emmaleigh T.;
    • Mesulam, M.-Marsel;
    • Geula, Changiz;
    • Rogalski, Emily J.
    Publication type:
    Article

  • Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.

    Published in:
    Cells (2073-4409), 2023, v. 12, n. 10, p. 1437, doi. 10.3390/cells12101437
    By:
    • Frankel, Eric;
    • Podder, Avijit;
    • Sharifi, Megan;
    • Pillai, Roshan;
    • Belnap, Newell;
    • Ramsey, Keri;
    • Dodson, Julius;
    • Venugopal, Pooja;
    • Brzezinski, Molly;
    • Llaci, Lorida;
    • Gerald, Brittany;
    • Mills, Gabrielle;
    • Sanchez-Castillo, Meredith;
    • Balak, Chris D.;
    • Szelinger, Szabolcs;
    • Jepsen, Wayne M.;
    • Siniard, Ashley L.;
    • Richholt, Ryan;
    • Naymik, Marcus;
    • Schrauwen, Isabelle
    Publication type:
    Article