Online Mendelian Inheritance in Man (OMIM) (original) (raw)
- Acciarri, A., Masullo, C., Bizzarro, A., Valenza, A., Quaranta, D., Marra, C., Tiziano, F. D., Brahe, C., Seripa, D., Matera, M. G., Fazio, V. M., Gainotti, G., Daniele, A.APOE epsilon-2-epsilon-4 genotype is a possible risk factor for primary progressive aphasia. Ann. Neurol. 59: 436-437, 2006. [PubMed: 16437577] [Full Text: https://doi.org/10.1002/ana.20780\]
- Baker, M., Kwok, J. B., Kucera, S., Crook, R., Farrer, M., Houlden, H., Isaacs, A., Lincoln, S., Onstead, L., Hardy, J., Wittenberg, L., Dodd, P., Webb, S., Hayward, N., Tannenberg, T., Andreadis, A., Hallupp, M., Schofield, P., Dark, F., Hutton, M.Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22. Ann. Neurol. 42: 794-798, 1997. [PubMed: 9392579] [Full Text: https://doi.org/10.1002/ana.410420516\]
- Boeve, B. F., Lin, S.-C., Strongosky, A., Dickson, D. W., Wszolek, Z. K.Absence of rapid eye movement sleep behavior disorder in 11 members of the pallidopontonigral degeneration kindred. Arch. Neurol. 63: 268-272, 2006. [PubMed: 16476816] [Full Text: https://doi.org/10.1001/archneur.63.2.268\]
- Borroni, B., Yancopoulou, D., Tsutsui, M., Padovani, A., Sawcer, S. J., Hodges, J. R., Spillantini, M. G.Association between tau H2 haplotype and age at onset in frontotemporal dementia. Arch. Neurol. 62: 1419-1422, 2005. [PubMed: 16157749] [Full Text: https://doi.org/10.1001/archneur.62.9.1419\]
- Botella-Lopez, A., Burgaya, F., Gavin, R., Garcia-Ayllon, M. S., Gomez-Tortosa, E., Pena-Casanova, J., Urena, J. M., Del Rio, J. A., Blesa, R., Soriano, E., Saez-Valero, J.Reelin expression and glycosylation patterns are altered in Alzheimer's disease. Proc. Nat. Acad. Sci. 103: 5573-5578, 2006. [PubMed: 16567613] [Full Text: https://doi.org/10.1073/pnas.0601279103\]
- Brown, J., Lantos, P. L., Roques, P., Fidani, L., Rossor, M. N.Familial dementia with swollen achromatic neurons and corticobasal inclusion bodies: a clinical and pathological study. J. Neurol. Sci. 135: 21-30, 1996. [PubMed: 8926492] [Full Text: https://doi.org/10.1016/0022-510x(95)00236-u\]
- Brun, A., Englund, B., Gustafson, L., Passant, U., Mann, D. M. A., Neary, D., Snowden, J. S.Clinical and neuropathological criteria for frontotemporal dementia. J. Neurol. Neurosurg. Psychiat. 57: 416-418, 1994. [PubMed: 8163988] [Full Text: https://doi.org/10.1136/jnnp.57.4.416\]
- Cairns, N. J., Bigio, E. H., Mackenzie, I. R. A., Neumann, M., Lee, V. M.-Y., Hatanpaa, K. J., White, C. L., III., Schneider, J. A., Grinberg, L. T., Halliday, G., Duyckaerts, C., Lowe, J. S., and 11 others.Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the consortium for frontotemporal lobar degeneration. Acta Neuropath. 114: 5-22, 2007. [PubMed: 17579875] [Full Text: https://doi.org/10.1007/s00401-007-0237-2\]
- Clark, L. N., Poorkaj, P., Wszolek, Z., Geschwind, D. H., Nasreddine, Z. S., Miller, B., Li, D., Payami, H., Awert, F., Markopoulou, K., Andreadis, A., D'Souza, I., Lee, V. M.-Y., Reed, L., Trojanowski, J. Q., Zhukareva, V., Bird, T., Schellenberg, G., Wilhelmsen, K. C.Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17. Proc. Nat. Acad. Sci. 95: 13103-13107, 1998. [PubMed: 9789048] [Full Text: https://doi.org/10.1073/pnas.95.22.13103\]
- Dark, F.A family with autosomal dominant non-Alzheimer's presenile dementia. Aust. N. Z. J. Psychiatry. 31: 139-144, 1997. [PubMed: 9088499] [Full Text: https://doi.org/10.3109/00048679709073812\]
- Delisle, M.-B., Murrell, J. R., Richardson, R., Trofatter, J. A., Rascol, O., Soulages, X., Mohr, M., Calvas, P., Ghetti, B.A mutation at codon 279 (N279K) in exon 10 of the tau gene causes a tauopathy with dementia and supranuclear palsy. Acta Neuropath. 98: 62-77, 1999. [PubMed: 10412802] [Full Text: https://doi.org/10.1007/s004010051052\]
- Doran, M., du Plessis, D. G., Ghadiali, E. J., Mann, D. M. A., Pickering-Brown, S., LArner, A. J.Familial early-onset dementia with tau intron 10 +16 mutation with clinical features similar to those of Alzheimer disease. Arch. Neurol. 64: 1535-1539, 2007. [PubMed: 17923640] [Full Text: https://doi.org/10.1001/archneur.64.10.1535\]
- Forman, M. S., Farmer, J., Johnson, J. K., Clark, C. M., Arnold, S. E., Coslett, H. B., Chatterjee, A., Hurtig, H. I., Karlawish, J. H., Rosen, H. J., Van Deerlin, V., Lee, V. M.-Y., Miller, B. L., Trojanowski, J. Q., Grossman, M.Frontotemporal dementia: clinicopathological correlations. Ann. Neurol. 59: 952-962, 2006. [PubMed: 16718704] [Full Text: https://doi.org/10.1002/ana.20873\]
- Foster, N. L., Wilhelmsen, K., Sima, A. A., Jones, M. Z., D'Amato, C. J., Gilman, S.Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Ann. Neurol. 41: 706-715, 1997. [PubMed: 9189031] [Full Text: https://doi.org/10.1002/ana.410410606\]
- Frank, A. R., Wszolek, Z. K., Jack, C. R., Jr., Boeve, B. F.Distinctive MRI findings in pallidopontonigral degeneration (PPND). Neurology 68: 620-621, 2007. [PubMed: 17310038] [Full Text: https://doi.org/10.1212/01.wnl.0000254614.39759.3d\]
- Gambetti, P.Prion in progressive subcortical gliosis revisited. (Letter) Neurology 49: 309-310, 1997. [PubMed: 9222220] [Full Text: https://doi.org/10.1212/wnl.49.1.309-c\]
- Goedert, M., Spillantini, M. G., Crowther, R. A., Chen, S. G., Parchi, P., Tabaton, M., Lanska, D. J., Markesbery, W. R., Wilhelmsen, K. C., Dickson, D. W., Petersen, R. B., Gambetti, P.Tau gene mutation in familial progressive subcortical gliosis. Nature Med. 5: 454-457, 1999. [PubMed: 10202939] [Full Text: https://doi.org/10.1038/7454\]
- Goldman, J. S., Farmer, J. M., Wood, E. M., Johnson, J. K., Boxer, A., Neuhaus, J., Lomen-Hoerth, C., Wilhelmsen, K. C., Lee, V. M.-Y., Grossman, M., Miller, B. L.Comparison of family histories in FTLD subtypes and related tauopathies. Neurology 65: 1817-1819, 2005. [PubMed: 16344531] [Full Text: https://doi.org/10.1212/01.wnl.0000187068.92184.63\]
- Heutink, P., Stevens, M., Rizzu, P., Bakker, E., Kros, J. M., Tibben, A., Niermeijer, M. F., van Duijn, C. M., Oostra, B. A., van Swieten, J. C.Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: a genetic and clinicopathological study of three Dutch families. Ann. Neurol. 41: 150-159, 1997. [PubMed: 9029063] [Full Text: https://doi.org/10.1002/ana.410410205\]
- Higuchi, M., Ishihara, T., Zhang, B., Hong, M., Andreadis, A., Trojanowski, J. Q., Lee, V. M.-Y.Transgenic mouse model of tauopathies with glial pathology and nervous system degeneration. Neuron 35: 433-446, 2002. [PubMed: 12165467] [Full Text: https://doi.org/10.1016/s0896-6273(02)00789-4\]
- Hutton, M., Lendon, C. L., Rizzu, P., Baker, M., Froelich, S., Houlden, H., Pickering-Brown, S., Chakraverty, S., Isaacs, A., Grover, A., Hackett, J., Adamson, J., and 39 others.Association of missense and 5-prime-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393: 702-705, 1998. [PubMed: 9641683] [Full Text: https://doi.org/10.1038/31508\]
- Iijima, M., Tabira, T., Poorkaj, P., Schellenberg, G. D., Trojanowski, J. Q., Lee, V. M.-Y., Schmidt, M. L., Takahashi, K., Nabika, T., Matsumoto, T., Yamashita, Y., Yoshioka, S., Ishino, H.A distinct familial presenile dementia with a novel missense mutation in the tau gene. Neuroreport 10: 497-501, 1999. [PubMed: 10208578] [Full Text: https://doi.org/10.1097/00001756-199902250-00010\]
- Ishihara, T., Hong, M., Zhang, B., Nakagawa, Y., Lee, M. K., Trojanowski, J. Q., Lee, V. M.-Y.Age-dependent emergence and progression of a tauopathy in transgenic mice overexpressing the shortest human tau isoform. Neuron 24: 751-762, 1999. [PubMed: 10595524] [Full Text: https://doi.org/10.1016/s0896-6273(00)81127-7\]
- Josephs, K. A., Whitwell, J. L., Knopman, D. S., Boeve, B. F., Vemuri, P., Senjem, M. L., Parisi, J. E., Ivnik, R. J., Dickson, D. W., Petersen, R. C., Jack, C. R., Jr.Two distinct subtypes of right temporal variant frontotemporal dementia. Neurology 73: 1443-1450, 2009. [PubMed: 19884571] [Full Text: https://doi.org/10.1212/WNL.0b013e3181bf9945\]
- Kertesz, A.Pick complex: an integrative approach to frontotemporal dementia: primary progressive aphasia, corticobasal degeneration, and progressive supranuclear palsy. Neurologist 9: 311-317, 2003. [PubMed: 14629785] [Full Text: https://doi.org/10.1097/01.nrl.0000094943.84390.cf\]
- Lanska, D. J., Currier, R. D., Cohen, M., Gambetti, P., Smith, E. E., Bebin, J., Jackson, J. F., Whitehouse, P. J., Markesbery, W. R.Familial progressive subcortical gliosis. Neurology 44: 1633-1643, 1994. [PubMed: 7936288] [Full Text: https://doi.org/10.1212/wnl.44.9.1633\]
- Lantos, P. L., Cairns, N. J., Khan, M. N., King, A., Revesz, T., Janssen, J. C., Morris, H., Rossor, M. N.Neuropathologic variation in frontotemporal dementia due to the intronic tau 10 +16 mutation. Neurology 58: 1169-1175, 2002. [PubMed: 11971082] [Full Text: https://doi.org/10.1212/wnl.58.8.1169\]
- Lee, V. M.-Y., Goedert, M., Trojanowski, J. Q.Neurodegenerative tauopathies. Annu. Rev. Neurosci. 24: 1121-1159, 2001. [PubMed: 11520930] [Full Text: https://doi.org/10.1146/annurev.neuro.24.1.1121\]
- Lynch, T., Sano, M., Marder, K. S., Bell, K. L., Foster, N. L., Defendini, R. F., Sima A. A. F., Keohane, C., Nygaard, T. G., Fahn, S., Mayeux, R., Rowland, L. P., Wilhelmsen, K. C.Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex. Neurology 44: 1878-1884, 1994. [PubMed: 7936241] [Full Text: https://doi.org/10.1212/wnl.44.10.1878\]
- Mackenzie, I. R. A., Neumann, M., Bigio, E. H., Cairns, N. J., Alafuzoff, I., Kril, J., Kovacs, G. G., Ghetti, B., Halliday, G., Holm, I. E., Ince, P. G., Kamphorst, W., and 9 others.Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations. Acta Neuropath. 117: 15-18, 2009. [PubMed: 19015862] [Full Text: https://doi.org/10.1007/s00401-008-0460-5\]
- Mackenzie, I. R. A., Neumann, M., Bigio, E. H., Cairns, N. J., Alafuzoff, I., Kril, J., Kovacs, G. G., Ghetti, B., Halliday, G., Holm, I. E., Ince, P. G., Kamphorst, W., and 9 others.Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update. Acta Neuropath. 119: 1-4, 2010. [PubMed: 19924424] [Full Text: https://doi.org/10.1007/s00401-009-0612-2\]
- Mackenzie, I. R. A., Rademakers, R.The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments. Neurogenetics 8: 237-248, 2007. [PubMed: 17805587] [Full Text: https://doi.org/10.1007/s10048-007-0102-4\]
- McKhann, G. M., Albert, M. S., Grossman, M., Miller, B., Dickson, D., Trojanowski, J. Q.Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's Disease. Arch. Neurol. 58: 1803-1809, 2001. [PubMed: 11708987] [Full Text: https://doi.org/10.1001/archneur.58.11.1803\]
- Mendez, M. F., Shapira, J. S., McMurtray, A., Licht, E., Miller, B. L.Accuracy of the clinical evaluation for frontotemporal dementia. Arch. Neurol. 64: 830-835, 2007. [PubMed: 17562930] [Full Text: https://doi.org/10.1001/archneur.64.6.830\]
- Morris, H. R., Khan, M. N., Janssen, J. C., Brown, J. M., Perez-Tur, J., Baker, M., Ozansoy, M., Hardy, J., Hutton, M., Wood, N. W., Lees, A. J., Revesz, T., Lantos, P., Rossor, M. N.The genetic and pathological classification of familial frontotemporal dementia. Arch. Neurol. 58: 1813-1816, 2001. [PubMed: 11708988] [Full Text: https://doi.org/10.1001/archneur.58.11.1813\]
- Murrell, J. R., Koller, D., Foroud, T., Goedert, M., Spillantini, M. G., Edenberg, H. J., Farlow, M. R., Ghetti, B.Familial multiple-system tauopathy with presenile dementia is localized to chromosome 17. Am. J. Hum. Genet. 61: 1131-1138, 1997. [PubMed: 9345089] [Full Text: https://doi.org/10.1086/301594\]
- Neumann, M., Sampathu, D. M., Kwong, L. K., Truax, A. C., Micsenyi, M. C., Chou, T. T., Bruce, J., Schuck, T., Grossman, M., Clark, C. M., McCluskey, L. F., Miller, B. L., Masliah, E., Mackenzie, I. R., Feldman, H., Feiden, W., Kretzschmar, H. A., Trojanowski, J. Q., Lee, V. M.-Y.Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314: 130-133, 2006. [PubMed: 17023659] [Full Text: https://doi.org/10.1126/science.1134108\]
- Petersen, R. B., Tabaton, M., Chen, S. G., Monari, L., Richardson, S. L., Lynches, T., Manetto, V., Lanska, D. J., Markesbery, W. R., Currier, R. D., Autilio-Gambetti, L., Wilhelmsen, K. C., Gambetti, P.Familial progressive subcortical gliosis: presence of prions and linkage to chromosome 17. Neurology 45: 1062-1067, 1995. Note: Erratum: Neurology 45: 1430 only, 1995. [PubMed: 7783864] [Full Text: https://doi.org/10.1212/wnl.45.6.1062\]
- Raux, G., Gantier, R., Thomas-Anterion, C., Boulliat, J., Verpillat, P., Hannequin, D., Brice, A., Frebourg, T., Campion, D.Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation. Neurology 55: 1577-1578, 2000. [PubMed: 11094121] [Full Text: https://doi.org/10.1212/wnl.55.10.1577\]
- Reed, L. A., Schmidt, M. L., Wszolek, Z. K., Balin, B. J., Soontornniyomkij, V., Lee, V. M-Y., Trojanowski, J. Q., Schelper, R. L.The neuropathology of a chromosome 17-linked autosomal dominant parkinsonism and dementia ('pallido-ponto-nigral degeneration'). J. Neuropath. Exp. Neurol. 57: 588-601, 1998. [PubMed: 9630238] [Full Text: https://doi.org/10.1097/00005072-199806000-00006\]
- Rohrer, J. D., Guerreiro, R., Vandrovcova, J., Uphill, J., Reiman, D., Beck, J., Isaacs, A. M., Authier, A., Ferrari, R., Fox, N. C., Mackenzie, I. R. A., Warren, J. D., de Silva, R., Holton, J., Revesz, T., Hardy, J., Mead, S., Rossor, M. N.The heritability and genetics of frontotemporal lobar degeneration. Neurology 73: 1451-1456, 2009. [PubMed: 19884572] [Full Text: https://doi.org/10.1212/WNL.0b013e3181bf997a\]
- Schmitt, H. P., Emser, W., Heimes, C.Familial occurrence of amyotrophic lateral sclerosis, parkinsonism, and dementia. Ann. Neurol. 16: 642-648, 1984. [PubMed: 6524873] [Full Text: https://doi.org/10.1002/ana.410160604\]
- Seelaar, H., Kamphorst, W., Rosso, S. M., Azmani, A., Masdjedi, R., de Koning, I., Maat-Kievit, J. A., Anar, B., Donker Kaat, L., Breedveld, G. J., Dooijes, D., Rosemuller, J. M., Bronner, I. F., Rizzu, P., van Swieten, J. C.Distinct genetic forms of frontotemporal dementia. Neurology 71: 1220-1226, 2008. [PubMed: 18703462] [Full Text: https://doi.org/10.1212/01.wnl.0000319702.37497.72\]
- Short, R. A., Graff-Radford, N. R., Adamson, J., Baker, M., Hutton, M.Differences in tau and apolipoprotein E polymorphism frequencies in sporadic frontotemporal lobar degeneration syndromes. Arch. Neurol. 59: 611-615, 2002. [PubMed: 11939896] [Full Text: https://doi.org/10.1001/archneur.59.4.611\]
- Simon-Sanchez, J., Schulte, C., Bras, J. M., Sharma, M., Gibbs, J. R., Berg, D., Paisan-Ruiz, C., Lichtner, P., Scholz, S. W., Hernandez, D. G., Kruger, R., Federoff, M., and 35 others.Genome-wide association study reveals genetic risk underlying Parkinson's disease. (Letter) Nature Genet. 41: 1308-1312, 2009. [PubMed: 19915575] [Full Text: https://doi.org/10.1038/ng.487\]
- Spillantini, M. G., Goedert, M., Crowther, R. A., Murrell, J. R., Farlow, M. R., Ghetti, B.Familial multiple system tauopathy with presenile dementia: a disease with abundant neuronal and glial tau filaments. Proc. Nat. Acad. Sci. 94: 4113-4118, 1997. [PubMed: 9108114] [Full Text: https://doi.org/10.1073/pnas.94.8.4113\]
- Tolnay, M., Probst, A.Frontotemporal lobar degeneration--tau as a pied piper? Neurogenetics 4: 63-75, 2002. [PubMed: 12481984] [Full Text: https://doi.org/10.1007/s10048-002-0140-x\]
- Tsuboi, Y., Uitti, R. J., Delisle, M.-B., Ferreira, J. J., Brefel-Courbon, C., Rascol, O., Ghetti, B., Murrell, J. R., Hutton, M., Baker, M., Wszolek, Z. K.Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: a comparison of the pallidopontonigral degeneration kindred and a French family. Arch. Neurol. 59: 943-950, 2002. [PubMed: 12056930] [Full Text: https://doi.org/10.1001/archneur.59.6.943\]
- van Leeuwen, F. W., van Tijn, P., Sonnemans, M. A. F., Hobo, B., Mann, D. M. A., Van Broeckhoven, C., Kumar-Singh, S., Cras, P., Leuba, G., Savioz, A., Maat-Schieman, M. L. C., Yamaguchi, H., Kros, J. M., Kamphorst, W., Hol, E. M., de Vos, R. A. I., Fischer, D. F.Frameshift proteins in autosomal dominant forms of Alzheimer disease and other tauopathies. Neurology 66 (suppl. 1): S86-S92, 2006. [PubMed: 16432153] [Full Text: https://doi.org/10.1212/01.wnl.0000193882.46003.6d\]
- Verpillat, P., Camuzat, A., Hannequin, D., Thomas-Anterion, C., Puel, M., Belliard, S., Dubois, B., Didic, M., Lacomblez, L., Moreaud, O., Golfier, V., Campion, D., Brice, A., Clerget-Darpoux, F.Apolipoprotein E gene in frontotemporal dementia: an association study and meta-analysis. Europ. J. Hum. Genet. 10: 399-405, 2002. [PubMed: 12107813] [Full Text: https://doi.org/10.1038/sj.ejhg.5200820\]
- Verpillat, P., Camuzat, A., Hannequin, D., Thomas-Anterion, C., Puel, M., Belliard, S., Dubois, B., Didic, M., Michel, B.-F., Lacomblez, L., Moreaud, O., Sellal, F., Golfier, V., Campion, D., Clerget-Darpoux, F., Brice, A.Association between the extended tau haplotype and frontotemporal dementia. Arch. Neurol. 59: 935-939, 2002. [PubMed: 12056929] [Full Text: https://doi.org/10.1001/archneur.59.6.935\]
- Whitwell, J. L., Jack, C. R., Jr., Boeve, B. F., Senjem, M. L., Baker, M., Ivnik, R. J., Knopman, D. S., Wszolek, Z. K., Petersen, R. C., Rademakers, R., Josephs, K. A.Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations. Neurology 73: 1058-1065, 2009. [PubMed: 19786698] [Full Text: https://doi.org/10.1212/WNL.0b013e3181b9c8b9\]
- Wijker, M., Wszolek, Z. K., Wolters, E. C. H., Rooimans, M. A., Pals, G., Pfeiffer, R. F., Lynch, T., Rodnitzky, R. L., Wilhelmsen, K. C., Arwert, F.Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21. Hum. Molec. Genet. 5: 151-154, 1996. [PubMed: 8789453] [Full Text: https://doi.org/10.1093/hmg/5.1.151\]
- Wilhelmsen, K. C., Forman, M. S., Rosen, H. J., Alving, L. I., Goldman, J., Feiger, J., Lee, J. V., Segall, S. K., Kramer, J. H., Lomen-Hoerth, C., Rankin, K. P., Johnson, J., Feiler, H. S., Weiner, M. W., Lee, V. M.-Y., Trojanowski, J. Q., Miller, B. L.17q-linked frontotemporal dementia-amyotrophic lateral sclerosis without tau mutations with tau and alpha-synuclein inclusions. Arch. Neurol. 61: 398-406, 2004. [PubMed: 15023818] [Full Text: https://doi.org/10.1001/archneur.61.3.398\]
- Wilhelmsen, K. C., Lynch, T., Pavlou, E., Higgins, M., Hygaard, T. G.Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. Am. J. Hum. Genet. 55: 1159-1165, 1994. [PubMed: 7977375]
- Wszolek, Z. K., Pfeiffer, R. F., Bhatt, M. H., Schelper, R. L., Cordes, M., Snow, B. J., Rodnitzky, R. L., Wolters, E. C., Arwert, F., Calne, D. B.Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration. Ann. Neurol. 32: 312-320, 1992. [PubMed: 1416801] [Full Text: https://doi.org/10.1002/ana.410320303\]
- Yamaoka, L. H., Welsh-Bohmer, K. A., Hulette, C. M., Gaskell, P. C., Jr., Murray, M., Rimmler, J. L., Helms, B. R., Guerra, M., Roses, A. D., Schmechel, D. E., Pericak-Vance, M. A.Linkage of frontotemporal dementia to chromosome 17: clinical and neuropathological characterization of phenotype. Am. J. Hum. Genet. 59: 1306-1312, 1996. [PubMed: 8940276]
- Zhang, W., Tarutani, A., Newell, K. L., Murzin, A. G., Matsubara, T., Falcon, B., Vidal, R., Garringer, H. J., Shi, Y., Ikeuchi, T., Murayama, S., Ghetti, B., Hasegawa, M., Goedert, M., Scheres, S. H. W.Novel tau filament fold in corticobasal degeneration. Nature 580: 283-287, 2020. [PubMed: 32050258] [Full Text: https://doi.org/10.1038/s41586-020-2043-0\]