Found: 14

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  • A novel human pain insensitivity disorder caused by a point mutation in ZFHX2.

    Published in:
    2018
    By:
    • Habib, Abdella M.;
    • Ayako Matsuyama;
    • Okorokov, Andrei L.;
    • Santana-Varela, Sonia;
    • Bras, Jose T.;
    • Aloisi, Anna Maria;
    • Emery, Edward C.;
    • Bogdanov, Yury D.;
    • Follenfant, Maryne;
    • Gossage, Sam J.;
    • Gras, Mathilde;
    • Humphrey, Jack;
    • Kolesnikov, Anna;
    • Kim Le Cann;
    • Shengnan Li;
    • Minett, Michael S.;
    • Pereira, Vanessa;
    • Ponsolles, Clara;
    • Sikandar, Shafaq;
    • Torres, Jesus M.
    Publication type:
    journal article

  • P4‐240: STOP‐GAIN VARIANT IN MICROGLIA‐EXPRESSED GENE GMIP IS ASSOCIATED WITH EARLY‐ONSET ALZHEIMER'S DISEASE.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P1534, doi. 10.1016/j.jalz.2018.07.061
    By:
    • Khan, Raiyan R.;
    • Altmann, Andre;
    • Napolioni, Valerio;
    • Kim, Yongha;
    • Guerreiro, Rita;
    • Bras, Jose T.;
    • Carmona, Susana;
    • Pereira, Miguel;
    • Santana, Isabel;
    • Hardy, John;
    • Mead, Simon;
    • Cruchaga, Carlos;
    • Fernandez, Maria Victoria;
    • Holstege, Henne;
    • Van der Flier, Wiesje M.;
    • Hulsman, Marc;
    • Van der Lee, Sven J.;
    • Chen, Yuning;
    • Bis, Joshua C.;
    • Launer, Lenore J.
    Publication type:
    Article

  • P3‐077: ALZHEIMER'S DISEASE (AD) POLYGENIC RISK SCORE (PRS) AS A PREDICTOR OF CONVERSION FROM MILD COGNITIVE IMPAIRMENT (MCI).

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P1094, doi. 10.1016/j.jalz.2018.06.1433
    By:
    • Chaudhury, Sultan Raja;
    • Patel, Tulsi;
    • Fallows, Abigail;
    • Brookes, Keeley J.;
    • Guetta-Baranes, Tamar;
    • Turton, James;
    • Sussams, Rebecca;
    • Guerreiro, Rita;
    • Bras, Jose T.;
    • Hardy, John;
    • Francis, Paul T.;
    • Holmes, Clive;
    • Morgan, Kevin
    Publication type:
    Article

  • P1‐168: LINKING POLYGENIC RISK SCORES TO ALZHEIMER'S DISEASE GENES.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P342, doi. 10.1016/j.jalz.2018.06.172
    By:
    • Patel, Tulsi;
    • Brookes, Keeley J.;
    • Guetta-Baranes, Tamar;
    • Chaudhury, Sultan Raja;
    • Turton, James;
    • Hernandez, Dena;
    • Singleton, Andrew;
    • Hardy, John;
    • Guerreiro, Rita;
    • Francis, Paul T.;
    • Bras, Jose T.;
    • Morgan, Kevin
    Publication type:
    Article

  • MULTI-INFARCT DEMENTIA OF SWEDISH TYPE IS CAUSED BY 3’UTR COL4A1 MUTATION.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P973, doi. 10.1016/j.jalz.2017.06.1312
    By:
    • Siitonen, M.;
    • Hanson, A. Börjesson;
    • Pasanen, P.;
    • Bras, Jose T.;
    • Kern, S.;
    • Kern, J.;
    • Andersen, O.;
    • Stanescu, H.;
    • Kleta, R.;
    • Baumann, M.;
    • Kalaria, Raj N.;
    • Kalimo, H.;
    • Singleton, Andrew;
    • Hardy, John;
    • Myllykangas, Liisa;
    • Viitanen, Matti;
    • Guerreiro, Rita
    Publication type:
    Article

  • NOVEL CANDIDATE GENES FOR DEMENTIA WITH LEWY BODIES.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P977, doi. 10.1016/j.jalz.2017.06.1322
    By:
    • Orme, Tatiana;
    • Guerreiro, Rita;
    • Santana, Isabel;
    • Bras, Jose T.
    Publication type:
    Article

  • INVESTIGATING GENETIC VARIATION IN ALZHEIMER’S DISEASE USING WHOLE-EXOME SEQUENCING.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P977, doi. 10.1016/j.jalz.2017.06.1323
    By:
    • Patel, Tulsi;
    • Brookes, Keeley J.;
    • Guetta-Baranes, Tamar;
    • Chappell, Sally;
    • Guerreiro, Rita;
    • Bras, Jose T.;
    • Hardy, John;
    • Francis, Paul T.;
    • Morgan, Kevin
    Publication type:
    Article

  • GENETICS OF DLB AND RELEVANCE FOR MECHANISMS.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P1444, doi. 10.1016/j.jalz.2017.07.478
    By:
    • Bras, Jose T.
    Publication type:
    Article

  • GENETIC CHARACTERIZATION OF A TURKISH DEMENTIA COHORT: FOCUS ON TYROBP.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P1490, doi. 10.1016/j.jalz.2017.07.576
    By:
    • Carmona, Susana;
    • Guven, Gamze;
    • Lohmann, Ebba;
    • Singleton, Andrew;
    • Hardy, John;
    • Bras, Jose T.;
    • Guerreiro, Rita
    Publication type:
    Article

  • CALCULATING POLYGENIC RISK FOR INDIVIDUALS WITH SPORADIC EARLY ONSET ALZHEIMER’S DISEASE.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P976, doi. 10.1016/j.jalz.2017.06.1321
    By:
    • Chaudhury, Sultan Raja;
    • Patel, Tulsi;
    • Barber, Imelda;
    • Guetta-Baranes, Tamar;
    • Brookes, Keeley J.;
    • Chappell, Sally;
    • Guerreiro, Rita;
    • Bras, Jose T.;
    • Hernandez, Dena;
    • Singleton, Andrew;
    • Hardy, John;
    • Mann, David M.A.;
    • Morgan, Kevin
    Publication type:
    Article

  • LINKAGE AND WHOLE GENOME SEQUENCE ANALYSIS OF ALZHEIMER'S DISEASE RESILIENCE AND RISK.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2016, v. 12, p. P675, doi. 10.1016/j.jalz.2016.06.1325
    By:
    • Kauwe, Keoni;
    • Arano, Ivan;
    • Bras, Jose T.;
    • Cannon-Albright, Lisa;
    • Cruchaga, Carlos;
    • Goate, Alison M.;
    • Gonzalez Murcia, Josue D.;
    • Guerreiro, Rita;
    • Hardy, John;
    • Hsu, Simon;
    • Karch, Celeste;
    • Munger, Ronald G.;
    • Norton, Maria C.;
    • Ridge, Perry G.;
    • Sassi, Celeste;
    • Singleton, Andrew;
    • Teerlink, Craig;
    • Tschanz, JoAnn;
    • Younkin, Steven G.;
    • Corcoran, Christopher
    Publication type:
    Article

  • INVESTIGATING SARM1 VARIANTS IN ALZHEIMER’S DISEASE COHORTS.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2016, v. 12, p. P855, doi. 10.1016/j.jalz.2016.06.1750
    By:
    • Patel, Tulsi;
    • Clement, Naomi S.;
    • Barber, Imelda;
    • Braae, Anne;
    • Brookes, Keeley J.;
    • Guetta-Baranes, Tamar;
    • Chappell, Sally;
    • Guerreiro, Rita;
    • Bras, Jose T.;
    • Singleton, Andrew;
    • Hardy, John;
    • Morgan, Kevin
    Publication type:
    Article

  • An Aged Canid with Behavioral Deficits Exhibits Blood and Cerebrospinal Fluid Amyloid Beta Oligomers.

    Published in:
    Frontiers in Aging Neuroscience, 2018, p. 1, doi. 10.3389/fnagi.2018.00007
    By:
    • Rusbridge, Clare;
    • Salguero, Francisco J.;
    • David, Monique Antoinette;
    • Faller, Kiterie M. E.;
    • Bras, Jose T.;
    • Guerreiro, Rita J.;
    • Richard-Londt, Angela C.;
    • Grainger, Duncan;
    • Head, Elizabeth;
    • Brandner, Sebastian G. P.;
    • Summers, Brian;
    • Hardy, John;
    • Tayebi, Mourad
    Publication type:
    Article

  • CLN8 disease caused by large genomic deletions.

    Published in:
    Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 1, p. 85, doi. 10.1002/mgg3.263
    By:
    • Beesley, Clare;
    • Guerreiro, Rita J.;
    • Bras, Jose T.;
    • Williams, Ruth E.;
    • Taratuto, Ana Lia;
    • Eltze, Christin;
    • Mole, Sara E.
    Publication type:
    Article