Works matching Familial diseases

Results: 5000
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    Magnetic resonance imaging evidence for presymptomatic change in thalamus and caudate in familial Alzheimer’s disease.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1399, doi. 10.1093/brain/awt065
    By:
    • Ryan, Natalie S.;
    • Keihaninejad, Shiva;
    • Shakespeare, Timothy J.;
    • Lehmann, Manja;
    • Crutch, Sebastian J.;
    • Malone, Ian B.;
    • Thornton, John S.;
    • Mancini, Laura;
    • Hyare, Harpreet;
    • Yousry, Tarek;
    • Ridgway, Gerard R.;
    • Zhang, Hui;
    • Modat, Marc;
    • Alexander, Daniel C.;
    • Rossor, Martin N.;
    • Ourselin, Sebastien;
    • Fox, Nick C.
    Publication type:
    Article
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    Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: Different incidences in familial and sporadic disease(Communicated by Christine Van Broeckhoven)Online Citation: Human Mutation, Mutation in Brief #615 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/615.pdf)

    Published in:
    Human Mutation, 2003, v. 21, n. 6, p. 651, doi. 10.1002/humu.9144
    By:
    • Eric Schulze-Bahr;
    • Lars Eckardt;
    • Günter Breithardt;
    • Karlheinz Seidl;
    • Thomas Wichter;
    • Christian Wolpert;
    • Martin Borggrefe;
    • Wilhelm Haverkamp
    Publication type:
    Article
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    COL4A2 mutation associated with familial porencephaly and small-vessel disease.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 8, p. 844, doi. 10.1038/ejhg.2012.20
    By:
    • Verbeek, Elly;
    • Meuwissen, Marije EC;
    • Verheijen, Frans W;
    • Govaert, Paul P;
    • Licht, Daniel J;
    • Kuo, Debbie S;
    • Poulton, Cathryn J;
    • Schot, Rachel;
    • Lequin, Maarten H;
    • Dudink, Jeroen;
    • Halley, Dicky J;
    • de Coo, René IF;
    • den Hollander, Jan C;
    • Oegema, Renske;
    • Gould, Douglas B;
    • Mancini, Grazia MS
    Publication type:
    Article
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    Germline mutational analysis of presenilin 1 and APP genes in Jewish-Israeli individuals with familial or early-onset Alzheimer disease using denaturing gradient gel electrophoresis (DGGE).

    Published in:
    European Journal of Human Genetics, 1998, v. 6, n. 2, p. 176, doi. 10.1038/sj.ejhg.5200160
    By:
    • Reznik-Wolf, Haike;
    • Treves, Therese A;
    • Shabtai, Herzel;
    • Aharon-Peretz, Judith;
    • Chapman, Joab;
    • Davidson, Michael;
    • Barkai, Gad;
    • St George Hyslop, Peter H;
    • Goldman, Boleslaw;
    • Korczyn, Amos D;
    • Friedman, Eitan
    Publication type:
    Article
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    Renal disease in familial dysautonomia.

    Published in:
    Kidney International, 1980, v. 17, n. 1, p. 102, doi. 10.1038/ki.1980.12
    By:
    • Pearson, John;
    • Gallo, Gloria;
    • Gluck, Melvin;
    • Axelrod, Felicia
    Publication type:
    Article
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    Fine mapping of 10q and 18q for familial Alzheimer's disease in Caribbean Hispanics.

    Published in:
    Molecular Psychiatry, 2004, v. 9, n. 11, p. 1042, doi. 10.1038/sj.mp.4001538
    By:
    • Lee, J.H.;
    • Mayeux, R.;
    • Mayo, D.;
    • Mo, J.;
    • Santana, V.;
    • Williamson, J.;
    • Flaquer, A.;
    • Ciappa, A.;
    • Rondon, H.;
    • Estevez, P.;
    • Lantigua, R.;
    • Kawarai, T.;
    • Toulina, A.;
    • Medrano, M.;
    • Torres, M.;
    • Stern, Y.;
    • Tycko, B.;
    • Rogaeva, E.;
    • St. George-Hyslop, P.;
    • Knowles, J.A.
    Publication type:
    Article
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    TDP-43 pathological changes in early onset familial and sporadic Alzheimer's disease, late onset Alzheimer's disease and Down's Syndrome: association with age, hippocampal sclerosis and clinical phenotype.

    Published in:
    Acta Neuropathologica, 2011, v. 122, n. 6, p. 703, doi. 10.1007/s00401-011-0879-y
    By:
    • Davidson, Yvonne;
    • Raby, Samantha;
    • Foulds, Penelope;
    • Robinson, Andrew;
    • Thompson, Jennifer;
    • Sikkink, Stephen;
    • Yusuf, Imran;
    • Amin, Hanan;
    • DuPlessis, Daniel;
    • Troakes, Claire;
    • Al-Sarraj, Safa;
    • Sloan, Carolyn;
    • Esiri, Margaret;
    • Prasher, Vee;
    • Allsop, David;
    • Neary, David;
    • Pickering-Brown, Stuart;
    • Snowden, Julie;
    • Mann, David
    Publication type:
    Article
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    PLD3 in non-familial Alzheimer's disease.

    Published in:
    Nature, 2015, v. 520, n. 7545, p. E3, doi. 10.1038/nature14039
    By:
    • Heilmann, Stefanie;
    • Drichel, Dmitriy;
    • Clarimon, Jordi;
    • Fernández, Victoria;
    • Lacour, André;
    • Wagner, Holger;
    • Thelen, Mathias;
    • Hernández, Isabel;
    • Fortea, Juan;
    • Alegret, Montserrat;
    • Blesa, Rafael;
    • Mauleón, Ana;
    • Roca, Maitée Rosende;
    • Kornhuber, Johannes;
    • Peters, Oliver;
    • Heun, Reinhard;
    • Frölich, Lutz;
    • Hüll, Michael;
    • Heneka, Michael T.;
    • Rüther, Eckart
    Publication type:
    Article
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    ON THE QUESTION OF WHETHER A DISEASE IS FAMILIAL.

    Published in:
    Journal of the American Statistical Association, 1967, v. 62, n. 318, p. 409, doi. 10.1080/01621459.1967.10482918
    By:
    • Gold, Ruth Z.;
    • Berman, Simeon M.;
    • Berger, Agnes
    Publication type:
    Article
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