All individuals with variants in gene MAPT

111 entries on 2 pages. Showing entries 1 - 100.
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AscendingIndividual ID     
Reference     
Ethnic origin     
Remarks     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00001311 Heutink P1, Stevens M, Rizzu P, Bakker E, Kros JM, Tibben A, Niermeijer MF, van Duijn CM, Oostra BA, van Swieten JC.(1997) - - FTLD - 1 1 Y Yang
00001312 Heutink P1, Stevens M, Rizzu P, Bakker E, Kros JM, Tibben A, Niermeijer MF, van Duijn CM, Oostra BA, van Swieten JC.(1997) - - FTLD - 1 1 Y Yang
00001313 Reed LA1, Grabowski TJ, Schmidt ML, Morris JC, Goate A, Solodkin A, Van Hoesen GW, Schelper RL, Talbot CJ, Wragg MA, Trojanowski JQ.(1997) - - FTLD - 1 1 Y Yang
00001314 Sobrido MJ1, Miller BL, Havlioglu N, Zhukareva V, Jiang Z, Nasreddine ZS, Lee VM, Chow TW, Wilhelmsen KC, Cummings JL, Wu JY, Geschwind DH.(2003) - - FTLD - 1 1 Y Yang
00001315 Rosso SM1, van Herpen E, Deelen W, Kamphorst W, Severijnen LA, Willemsen R, Ravid R, Niermeijer MF, Dooijes D, Smith MJ, Goedert M, Heutink P, van Swieten JC.(2002) - - FTLD - 1 1 Y Yang
00001316 Neumann M1, Diekmann S, Bertsch U, Vanmassenhove B, Bogerts B, Kretzschmar HA.(2005) - - FTLD - 1 1 Y Yang
00001317 Giaccone G, Rossi G, Farina L, Marcon G, Di Fede G, Catania M, Morbin M, Sacco L, Bugiani O, Tagliavini F.(2005) - - FTLD - 1 1 Y Yang
00001318 Lladó A, Ezquerra M, Sánchez-Valle R, Rami L, Tolosa E, Molinuevo JL.(2007) - - FTLD - 1 1 Y Yang
00001319 Poorkaj P1, Bird TD, Wijsman E, Nemens E, Garruto RM, Anderson L, Andreadis A, Wiederholt WC, Raskind M, Schellenberg GD.(1998) - - FTLD - 1 1 Y Yang
00001320 "Clark LN1, Poorkaj P, Wszolek Z, Geschwind DH, Nasreddine ZS, Miller B, Li D, Payami H, Awert F, Markopoulou K, Andreadis A, D'Souza I, Lee VM, Reed L, Trojanowski JQ, Bird T.(1998) - - FTLD - 1 1 Y Yang
00001321 Iijima M1, Tabira T, Poorkaj P, Schellenberg GD, Trojanowski JQ, Lee VM, Schmidt ML, Takahashi K, Nabika T, Matsumoto T, Yamashita Y, Yoshioka S, Ishino H.(1999) - - FTLD - 1 1 Y Yang
00001322 Sperfeld AD1, Collatz MB, Baier H, Palmbach M, Storch A, Schwarz J, Tatsch K, Reske S, Joosse M, Heutink P, Ludolph AC.(1999) - - FTLD - 1 1 Y Yang
00001323 Brown J1, Lantos PL, Roques P, Fidani L, Rossor MN.(1996) - - FTLD - 1 1 Y Yang
00001324 Lippa CF1, Zhukareva V, Kawarai T, Uryu K, Shafiq M, Nee LE, Grafman J, Liang Y, St George-Hyslop PH, Trojanowski JQ, Lee VM.(2000) - - FTLD - 1 1 Y Yang
00001325 Hayashi S1, Toyoshima Y, Hasegawa M, Umeda Y, Wakabayashi K, Tokiguchi S, Iwatsubo T, Takahashi H.(2002) - - FTLD - 1 1 Y Yang
00001326 Kobayashi T1, Ota S, Tanaka K, Ito Y, Hasegawa M, Umeda Y, Motoi Y, Takanashi M, Yasuhara M, Anno M, Mizuno Y, Mori H.(2003) - - FTLD - 1 1 Y Yang
00001327 "Zarranz JJ1, Ferrer I, Lezcano E, Forcadas MI, Eizaguirre B, Atarés B, Puig B, Gómez-Esteban JC, Fernández-Maiztegui C, Rouco I, Pérez-Concha T, Fernández M, Rodríguez O(2005) - - FTLD - 1 1 Y Yang
00001328 Rizzini C1, Goedert M, Hodges JR, Smith MJ, Jakes R, Hills R, Xuereb JH, Crowther RA, Spillantini MG.(2000) - - FTLD - 1 1 Y Yang
00001329 Iseki E1, Matsumura T, Marui W, Hino H, Odawara T, Sugiyama N, Suzuki K, Sawada H, Arai T, Kosaka K.(2001) - - FTLD - 1 1 Y Yang
00001330 Neumann M1, Schulz-Schaeffer W, Crowther RA, Smith MJ, Spillantini MG, Goedert M, Kretzschmar HA.(2001) - - FTLD - 1 1 Y Yang
00001331 Pickering-Brown SM1, Baker M, Nonaka T, Ikeda K, Sharma S, Mackenzie J, Simpson SA, Moore JW, Snowden JS, de Silva R, Revesz T, Hasegawa M, Hutton M, Mann DM.(2004) - - FTLD - 1 1 Y Yang
00001332 Gallo M1, Tomaino C, Puccio G, Frangipane F, Curcio SA, Bernardi L, Geracitano S, Anfossi M, Mirabelli M, Colao R, Vasso F, Smirne N, Maletta RG, Bruni AC.(2010) - - FTLD - 1 1 Y Yang
00001333 Momeni P1, Wickremaratchi MM, Bell J, Arnold R, Beer R, Hardy J, Revesz T, Neal JW, Morris HR.(2010) - - FTLD - 1 1 Y Yang
00001334 Anfossi M1, Bernardi L, Gallo M, Geracitano S, Colao R, Puccio G, Curcio SA, Frangipane F, Mirabelli M, Tomaino C, Smirne N, Maletta R, Bruni AC.(2011) - - FTLD - 1 1 Y Yang
00001335 "Hutton M1, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies PJ(1998) - - FTLD - 1 1 Y Yang
00001336 "Hutton M1, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies PJ(1998) - - FTLD - 1 1 Y Yang
00001337 "Hutton M1, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies PJ(1998) - - FTLD - 1 1 Y Yang
00001338 Spillantini MG1, Murrell JR, Goedert M, Farlow MR, Klug A, Ghetti B.(1998) - - FTLD - 1 1 Y Yang
00001339 "Yasuda M1, Takamatsu J, D'Souza I, Crowther RA, Kawamata T, Hasegawa M, Hasegawa H, Spillantini MG, Tanimukai S, Poorkaj P, Varani L, Varani G, Iwatsubo T, Goedert M(2000) - - FTLD - 1 1 Y Yang
00001340 Tolnay M1, Grazia Spillantini M, Rizzini C, Eccles D, Lowe J, Ellison D.(2000) - - FTLD - 1 1 Y Yang
00001341 Miyamoto K1, Kowalska A, Hasegawa M, Tabira T, Takahashi K, Araki W, Akiguchi I, Ikemoto A.(2001) - - FTLD - 1 1 Y Yang
00001342 "Anfossi M1, Vuono R, Maletta R, Virdee K, Mirabelli M, Colao R, Puccio G, Bernardi L, Frangipane F, Gallo M, Geracitano S, Tomaino C, Curcio SA, Zannino G, Lamenza F, Losso MA(2011) - - FTLD - 1 1 Y Yang
00001343 "Anfossi M1, Vuono R, Maletta R, Virdee K, Mirabelli M, Colao R, Puccio G, Bernardi L, Frangipane F, Gallo M, Geracitano S, Tomaino C, Curcio SA, Zannino G, Lamenza F, Losso MA(2011) - - FTLD - 1 1 Y Yang
00001344 Sobrido MJ1, Miller BL, Havlioglu N, Zhukareva V, Jiang Z, Nasreddine ZS, Lee VM, Chow TW, Wilhelmsen KC, Cummings JL, Wu JY, Geschwind DH.(2003) - - FTLD - 1 1 Y Yang
00001345 Sobrido MJ1, Miller BL, Havlioglu N, Zhukareva V, Jiang Z, Nasreddine ZS, Lee VM, Chow TW, Wilhelmsen KC, Cummings JL, Wu JY, Geschwind DH.(2003) - - FTLD - 1 1 Y Yang
00001346 Sobrido MJ1, Miller BL, Havlioglu N, Zhukareva V, Jiang Z, Nasreddine ZS, Lee VM, Chow TW, Wilhelmsen KC, Cummings JL, Wu JY, Geschwind DH.(2003) - - FTLD - 1 1 Y Yang
00001347 Sobrido MJ1, Miller BL, Havlioglu N, Zhukareva V, Jiang Z, Nasreddine ZS, Lee VM, Chow TW, Wilhelmsen KC, Cummings JL, Wu JY, Geschwind DH.(2003) - - FTLD - 1 1 Y Yang
00001458 Rohrer JD1, Paviour D, Vandrovcova J, Hodges J, de Silva R, Rossor MN.(2011) - - FTLD - 1 1 Y Yang
00001459 King A1, Al-Sarraj S, Troakes C, Smith BN, Maekawa S, Iovino M, Spillantini MG, Shaw CE.(2013) - - FTLD - 1 1 Y Yang
00001460 "Di Fonzo A1, Ronchi D1, Gallia F1, Cribiù FM1, Trezzi I1, Vetro A1, Della Mina E1, Limongelli I1, Bellazzi R1, Ricca I1, Micieli G1, Fassone E1, Rizzuti M1, Bordoni A1(2014) - - FTLD - 1 1 Y Yang
00001461 Ishizuka T1, Nakamura M, Ichiba M, Sano A.(2011) - - FTLD - 1 1 Y Yang
00001471 Wierzba-Bobrowicz T1, Lewandowska E, Zaremba J, Berdyński M, ?ekanowski C, St?pień T, Felczak P, Tarka S.(2014) Italian-Polish - FTLD - 1 1 Y Yang
00003806 Petersen MS1, Guella I2, Bech S3, Gustavsson E4, Farrer MJ5.(2015) Faroe Islands - PD - 1 1 Y Yang
00003932 "Bonifati V1, Joosse M, Nicholl DJ, Vanacore N, Bennett P, Rizzu P, Fabbrini G, Marconi R, Colosimo C, Locuratolo N, Stocchi F, Bonuccelli U, De Mari M, Wenning G, Vieregge P(1999) - - PSP - 1 1 Y Yang
00003933 Poorkaj P1, Muma NA, Zhukareva V, Cochran EJ, Shannon KM, Hurtig H, Koller WC, Bird TD, Trojanowski JQ, Lee VM, Schellenberg GD.(2002) - - PSP - 1 1 Y Yang
00003934 Higgins JJ1, Adler RL, Loveless JM.(1999) - - PSP - 1 1 Y Yang
00003935 Higgins JJ1, Adler RL, Loveless JM.(1999) - - PSP - 1 1 Y Yang
00003936 Ros R1, Thobois S, Streichenberger N, Kopp N, Sánchez MP, Pérez M, Hoenicka J, Avila J, Honnorat J, de Yébenes JG.(2005) - - PSP - 1 1 Y Yang
00003937 Donker Kaat L1, Boon AJ, Azmani A, Kamphorst W, Breteler MM, Anar B, Heutink P, van Swieten JC.(2009) - - PSP - 1 1 Y Yang
00003938 Rohrer JD1, Paviour D, Vandrovcova J, Hodges J, de Silva R, Rossor MN.(2011) - - PSP - 1 1 Y Yang
00003939 Pastor P1, Pastor E, Carnero C, Vela R, García T, Amer G, Tolosa E, Oliva R.(2001) - - PSP - 1 1 Y Yang
00003945 Rohrer JD1, Paviour D, Vandrovcova J, Hodges J, de Silva R, Rossor MN.(2011) - - PSP - 1 1 Y Yang
00005102 Smith R et al. (2016) - Risk loci AD - 1 1 XY Liu
00005159 Barber IS et al. (2017) - associate AD - 1 1 XY Liu
00005168 Sala Frigerio C et al. (2015) - - AD - 1 1 XY Liu
00005169 Sala Frigerio C et al. (2015) - - AD - 1 1 XY Liu
00005555 Tacik P et al. (2016) - - FTLD, PD - 1 1 XY Liu
00005993 Kovacs GG et al.(2011) - A 63-year-old man FTLD - 1 1 XY Liu
00005994 Ikeuchi T et al. (2011) - with parkinsonism FTLD - 1 1 XY Liu
00005995 Bellucci A et al. (2011) - - FTLD - 1 1 XY Liu
00006001 Gauthier-Kemper A et al. (2011) - - FTLD - 1 1 XY Liu
00006002 Anfossi M et aL. (2011) - - FTLD - 1 1 XY Liu
00006014 Whitwell JL et al. (2011) - - FTLD - 1 1 XY Liu
00006015 Whitwell JL et al. (2011) - - FTLD - 1 1 XY Liu
00006016 Whitwell JL et al. (2011) - - FTLD - 1 1 XY Liu
00006017 Whitwell JL et al. (2011) - - FTLD - 1 1 XY Liu
00006018 Whitwell JL et al. (2011) - - FTLD - 1 1 XY Liu
00006019 Whitwell JL et al. (2011) - - FTLD - 1 1 XY Liu
00006032 Coppola G et al. (2012) - increasing the risk AD, FTLD - 1 1 XY Liu
00006038 Schulz KL et al. (2012) - - FTLD - 1 1 XY Liu
00006047 Sitek EJ et al. (2014) - parkinsonism FTLD - 1 1 XY Liu
00006050 Kimura T et al. (2013) - - FTLD - 1 1 XY Liu
00006051 Kimura T et al. (2013) - - FTLD - 1 1 XY Liu
00006053 Lee SE et aL. (2013) - - AD, FTLD - 1 1 XY Liu
00006059 Liang Y et al. (2014) - - FTLD - 1 1 XY Liu
00006061 Iyer A et al. (2013) - - FTLD - 1 1 XY Liu
00006071 Luo Y et al. (2014) - - FTLD - 1 1 XY Liu
00006074 Ishida C et al. (2015) - - FTLD - 1 1 XY Liu
00006077 Behnam M et al. (2015) - - FTLD - 1 1 XY Liu
00006079 Wren MC et al. (2015) - - FTLD - 1 1 XY Liu
00006080 Pastor P et al. (2016) - - FTLD - 1 1 XY Liu
00006087 Domoto-Reilly K et al. (2017) - - FTLD - 1 1 XY Liu
00006091 Takada LT et al. (2016) - - FTLD - 1 1 XY Liu
00006092 Takada LT et al. (2016) - - FTLD - 1 1 XY Liu
00006093 Pir GJ et al. (2016) - a risk factor FTLD, PSP - 1 1 XY Liu
00006096 Rasmussen MA et al. (2016) - - FTLD - 1 1 XY Liu
00006097 Rasmussen MA et al. (2016) - - FTLD - 1 1 XY Liu
00006099 Nimsanor N et aL. (2016) - 57-year-old female FTLD - 1 1 XY Liu
00006100 Nimsanor N et al. (2016) - - FTLD - 1 1 XY Liu
00006101 Sun L et al. (2017) - - FTLD - 1 1 XY Liu
00006102 Nimsanor N et al. (2016) - 59-year-old female patient FTLD - 1 1 XY Liu
00006103 Nimsanor N et al. (2016) - 28-year-old woman FTLD - 1 1 XY Liu
00006105 Spina S et al. (2017) - - FTLD - 1 1 XY Liu
00006106 Hallmann AL et al. (2017) - - FTLD - 1 1 XY Liu
00006109 Guven G et al. (2016) Turkish - FTLD - 1 1 XY Liu
00006110 Guven G et al. (2016) Turkish - FTLD - 1 1 XY Liu
00006111 Rademakers R et al. (2004) - - FTLD - 1 1 XY Liu
00006112 Grover A et al. (2003) - - FTLD - 1 1 XY Liu
00006113 van der Zee J et al. (2006) - - FTLD - 1 1 XY Liu
00006114 Cohn-Hokke PE et al. (2014) - - FTLD - 1 1 XY Liu
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