Online Mendelian Inheritance in Man (OMIM) (original) (raw)

  1. 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\]
  2. 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\]
  3. 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\]
  4. 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\]
  5. 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\]
  6. 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\]
  7. 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\]
  8. 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\]
  9. 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\]
  10. 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\]
  11. 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\]
  12. 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\]
  13. 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\]
  14. 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\]
  15. 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\]
  16. 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\]
  17. 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\]
  18. 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\]
  19. 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\]
  20. 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\]
  21. 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\]
  22. 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\]
  23. 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\]
  24. 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\]
  25. 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\]
  26. 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\]
  27. 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\]
  28. 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\]
  29. 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\]
  30. 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\]
  31. 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\]
  32. 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\]
  33. 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\]
  34. 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\]
  35. 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\]
  36. 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\]
  37. 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\]
  38. 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\]
  39. 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\]
  40. 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\]
  41. 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\]
  42. 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\]
  43. 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\]
  44. 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\]
  45. 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\]
  46. 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\]
  47. 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\]
  48. 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\]
  49. 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\]
  50. 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\]
  51. 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\]
  52. 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\]
  53. 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\]
  54. 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\]
  55. 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]
  56. 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\]
  57. 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]
  58. 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\]