메뉴 건너뛰기




Volumn 17, Issue 1, 2007, Pages 63-73

Hereditary frontotemporal dementia caused by Tau gene mutations

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; TAU PROTEIN;

EID: 33847194237     PISSN: 10156305     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1750-3639.2007.00052.x     Document Type: Conference Paper
Times cited : (155)

References (132)
  • 5
    • 0035930625 scopus 로고    scopus 로고
    • Mutations of tau protein in frontotemporal dementia promote aggregation of paired helical filaments by enhancing local beta-structure
    • von Bergen M, Barghorn S, Li L, Marx A, Biernat J, Mandelkow EM, Mandelkow E (2001) Mutations of tau protein in frontotemporal dementia promote aggregation of paired helical filaments by enhancing local beta-structure. J Biol Chem 276:48165-48174.
    • (2001) J Biol Chem , vol.276 , pp. 48165-48174
    • von Bergen, M.1    Barghorn, S.2    Li, L.3    Marx, A.4    Biernat, J.5    Mandelkow, E.M.6    Mandelkow, E.7
  • 12
    • 0025977281 scopus 로고
    • Straight and paired helical filaments in Alzheimer disease have a common structural unit
    • Crowther RA (1991) Straight and paired helical filaments in Alzheimer disease have a common structural unit. Proc Natl Acad Sci USA 88:2288-2292.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 2288-2292
    • Crowther, R.A.1
  • 17
    • 0037135580 scopus 로고    scopus 로고
    • Tau Exon 10 expression involves a bipartite intron 10 regulatory sequence and weak 5′ and 3′ splice sites
    • D'Souza I, Schellenberg GD (2002) Tau Exon 10 expression involves a bipartite intron 10 regulatory sequence and weak 5′ and 3′ splice sites. J Biol Chem 277:26587-26599.
    • (2002) J Biol Chem , vol.277 , pp. 26587-26599
    • D'Souza, I.1    Schellenberg, G.D.2
  • 18
    • 0033545946 scopus 로고    scopus 로고
    • Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements
    • D'Souza I, Poorkaj P, Hong M, Nochlin D, Lee VM, Bird TD, Schellenberg GD (1999) Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements. Proc Natl Acad Sci USA 96:5598-5603.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 5598-5603
    • D'Souza, I.1    Poorkaj, P.2    Hong, M.3    Nochlin, D.4    Lee, V.M.5    Bird, T.D.6    Schellenberg, G.D.7
  • 20
    • 0035072923 scopus 로고    scopus 로고
    • Clinic-based cases with frontotemporal dementia show increased cerebrospinal fluid tau and high apolipoprotein E epsilon4 frequency, but no tau gene mutations
    • Fabre SF, Forsell C, Viitanen M, Sjogren M, Wallin A, Blennow K, Blomberg M, Andersen C, Wahlund LO, Lannfelt L (2001) Clinic-based cases with frontotemporal dementia show increased cerebrospinal fluid tau and high apolipoprotein E epsilon4 frequency, but no tau gene mutations. Exp Neurol 168:413-418.
    • (2001) Exp Neurol , vol.168 , pp. 413-418
    • Fabre, S.F.1    Forsell, C.2    Viitanen, M.3    Sjogren, M.4    Wallin, A.5    Blennow, K.6    Blomberg, M.7    Andersen, C.8    Wahlund, L.O.9    Lannfelt, L.10
  • 22
    • 0024468551 scopus 로고
    • Characterization of two pathological tau protein, variants in Alzheimer brain cortices
    • Flament S, Delacourte A, Hemon B, Défossez A (1989) Characterization of two pathological tau protein, variants in Alzheimer brain cortices. J Neurol Sci 92:133-141.
    • (1989) J Neurol Sci , vol.92 , pp. 133-141
    • Flament, S.1    Delacourte, A.2    Hemon, B.3    Défossez, A.4
  • 23
    • 0030977392 scopus 로고    scopus 로고
    • Foster NL, Wilhelmsen K, Sima AA, Jones MZ, D'Amato CJ, Gilman S (1997) Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Conference participants. Ann Neurol 41:706-715.
    • Foster NL, Wilhelmsen K, Sima AA, Jones MZ, D'Amato CJ, Gilman S (1997) Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Conference participants. Ann Neurol 41:706-715.
  • 24
    • 0035199224 scopus 로고    scopus 로고
    • Dementia and neurodevelopmental predisposition: Cognitive dysfunction in presymptomatic subjects precedes dementia by decades in frontotemporal dementia
    • Geschwind DH, Robidoux J, Alarcon M, Miller BL, Wilhelmsen KC, Cummings JL, Nasreddine ZS (2001) Dementia and neurodevelopmental predisposition: cognitive dysfunction in presymptomatic subjects precedes dementia by decades in frontotemporal dementia. Ann Neurol 50:741-746.
    • (2001) Ann Neurol , vol.50 , pp. 741-746
    • Geschwind, D.H.1    Robidoux, J.2    Alarcon, M.3    Miller, B.L.4    Wilhelmsen, K.C.5    Cummings, J.L.6    Nasreddine, Z.S.7
  • 26
    • 0842281547 scopus 로고    scopus 로고
    • Tau protein and neurodegeneration
    • Goedert M (2004) Tau protein and neurodegeneration. Semin Cell Dev Biol 15:45-49.
    • (2004) Semin Cell Dev Biol , vol.15 , pp. 45-49
    • Goedert, M.1
  • 27
    • 0025600995 scopus 로고
    • Expression of separate isoforms of human tau protein: Correlation with the tau pattern in brain and effects on tubulin polymerization
    • Goedert M, Jakes R (1990) Expression of separate isoforms of human tau protein: correlation with the tau pattern in brain and effects on tubulin polymerization. EMBO J 9:4225-4230.
    • (1990) EMBO J , vol.9 , pp. 4225-4230
    • Goedert, M.1    Jakes, R.2
  • 28
    • 0024745894 scopus 로고
    • Multiple isoforms of human microtubule-associated protein tau: Sequences and localization in neurofibrillary tangles of Alzheimer's disease
    • Goedert M, Spillantini MG, Jakes R, Rutherford D, Crowther RA (1989) Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer's disease. Neuron 3:519-526.
    • (1989) Neuron , vol.3 , pp. 519-526
    • Goedert, M.1    Spillantini, M.G.2    Jakes, R.3    Rutherford, D.4    Crowther, R.A.5
  • 29
    • 0024387161 scopus 로고
    • Cloning and sequencing of the cDNA encoding an isoform of microtubule-associated protein tau containing four tandem repeats: Differential expression of tau protein mRNAs in human brain
    • Goedert M, Spillantini MG, Potier MC, Ulrich J, Crowther RA (1989) Cloning and sequencing of the cDNA encoding an isoform of microtubule-associated protein tau containing four tandem repeats: differential expression of tau protein mRNAs in human brain. EMBO J 8:393-399.
    • (1989) EMBO J , vol.8 , pp. 393-399
    • Goedert, M.1    Spillantini, M.G.2    Potier, M.C.3    Ulrich, J.4    Crowther, R.A.5
  • 30
    • 0026595846 scopus 로고
    • Tau proteins of Alzheimer paired helical filaments: Abnormal phosphorylation of all six brain isoforms
    • Goedert M, Spillantini MG, Cairns NJ, Crowther RA (1992) Tau proteins of Alzheimer paired helical filaments: abnormal phosphorylation of all six brain isoforms. Neuron 8:159-168.
    • (1992) Neuron , vol.8 , pp. 159-168
    • Goedert, M.1    Spillantini, M.G.2    Cairns, N.J.3    Crowther, R.A.4
  • 31
    • 0029907548 scopus 로고    scopus 로고
    • Assembly of microtubule-associated protein tau into Alzheimer-like filaments induced by sulphated glycosaminoglycans
    • Goedert M, Jakes R, Spillantini MG, Hasegawa M, Smith MJ, Crowther RA (1996) Assembly of microtubule-associated protein tau into Alzheimer-like filaments induced by sulphated glycosaminoglycans. Nature 383:550-553.
    • (1996) Nature , vol.383 , pp. 550-553
    • Goedert, M.1    Jakes, R.2    Spillantini, M.G.3    Hasegawa, M.4    Smith, M.J.5    Crowther, R.A.6
  • 32
    • 0032919462 scopus 로고    scopus 로고
    • Effects of frontotemporal dementia FTDP-17 mutations on heparin-induced assembly of tau filaments
    • Goedert M, Jakes R, Crowther RA (1999) Effects of frontotemporal dementia FTDP-17 mutations on heparin-induced assembly of tau filaments. FEBS Lett 450:306-311.
    • (1999) FEBS Lett , vol.450 , pp. 306-311
    • Goedert, M.1    Jakes, R.2    Crowther, R.A.3
  • 34
    • 0037134098 scopus 로고    scopus 로고
    • Effects on splicing and protein function of three mutations in codon N296 of tau in vitro
    • Grover A, DeTure M, Yen SH, Hutton M (2002) Effects on splicing and protein function of three mutations in codon N296 of tau in vitro. Neurosci Lett 323:33-36.
    • (2002) Neurosci Lett , vol.323 , pp. 33-36
    • Grover, A.1    DeTure, M.2    Yen, S.H.3    Hutton, M.4
  • 37
    • 0032561415 scopus 로고    scopus 로고
    • Tau proteins with FTDP-17 mutations have a reduced ability to promote microtubule assembly
    • Hasegawa M, Smith MJ, Goedert M (1998) Tau proteins with FTDP-17 mutations have a reduced ability to promote microtubule assembly. FEBS Lett 437:207-210.
    • (1998) FEBS Lett , vol.437 , pp. 207-210
    • Hasegawa, M.1    Smith, M.J.2    Goedert, M.3
  • 38
    • 0033060662 scopus 로고    scopus 로고
    • FTDP-17 mutations N279K and S305N in tau produce increased splicing of exon 10
    • Hasegawa M, Smith MJ, Iijima M, Tabira T, Goedert M (1999) FTDP-17 mutations N279K and S305N in tau produce increased splicing of exon 10. FEBS Lett 443:93-96.
    • (1999) FEBS Lett , vol.443 , pp. 93-96
    • Hasegawa, M.1    Smith, M.J.2    Iijima, M.3    Tabira, T.4    Goedert, M.5
  • 41
    • 0034640005 scopus 로고    scopus 로고
    • Untangling tau-related dementia
    • Heutink P (2000) Untangling tau-related dementia. Hum Mol Genet 9:979-986.
    • (2000) Hum Mol Genet , vol.9 , pp. 979-986
    • Heutink, P.1
  • 43
    • 0142062488 scopus 로고    scopus 로고
    • Hogg M, Grujic ZM, Baker M, demirci S, Guillozet AL, Sweet AP, Herzog LL, Weintraub S, Mesulam MM, LaPointe NE, Gamblin TC, Berry RW, BinDer LI, De Silva R, Lees A, Espinoza M, Davies P, Grover A, Sahara N, Ishizawa T, Dickson D, Yen SH, Hutton M, Bigio EH (2003) The L266V tau mutation is associated with frontotemporal dementia and Pick-like 3R and 4R tauopathy. Acta Neuropathol (Berl) 106:323-336.
    • Hogg M, Grujic ZM, Baker M, demirci S, Guillozet AL, Sweet AP, Herzog LL, Weintraub S, Mesulam MM, LaPointe NE, Gamblin TC, Berry RW, BinDer LI, De Silva R, Lees A, Espinoza M, Davies P, Grover A, Sahara N, Ishizawa T, Dickson D, Yen SH, Hutton M, Bigio EH (2003) The L266V tau mutation is associated with frontotemporal dementia and Pick-like 3R and 4R tauopathy. Acta Neuropathol (Berl) 106:323-336.
  • 48
    • 0032543684 scopus 로고    scopus 로고
    • Hutton M, 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 P, Petersen RC, Stevens M, De Graaff E, Wauters E, van Baren J, Hillebrand M, Joosse M, Kwon JM, Nowotny P, Che LK, Norton J, Morris JC, Reed LA, Trojanowski J, Basun H, Lannfelt L, Neystat M, Fahn S, Dark F, Tannenberg T, Dodd PR, Hayward N, Kwok JB, Schofield PR, Andreadis A, Snowden J, Craufurd D, Neary D, Owen F, Oostra BA, Hardy J, Goate A, van Swieten J, Mann D, Lynch T, Heutink P (1998) Association of missense and 5?-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393:702-705.
    • Hutton M, 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 P, Petersen RC, Stevens M, De Graaff E, Wauters E, van Baren J, Hillebrand M, Joosse M, Kwon JM, Nowotny P, Che LK, Norton J, Morris JC, Reed LA, Trojanowski J, Basun H, Lannfelt L, Neystat M, Fahn S, Dark F, Tannenberg T, Dodd PR, Hayward N, Kwok JB, Schofield PR, Andreadis A, Snowden J, Craufurd D, Neary D, Owen F, Oostra BA, Hardy J, Goate A, van Swieten J, Mann D, Lynch T, Heutink P (1998) Association of missense and 5?-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393:702-705.
  • 51
    • 0034877085 scopus 로고    scopus 로고
    • Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a wide-spread tau accumulation in the glial cells
    • Iseki E, Matsumura T, Marui W, Hino H, Odawara T, Sugiyama N, Suzuki K, Sawada H, Arai T, Kosaka K (2001) Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a wide-spread tau accumulation in the glial cells. Acta Neuropathol (Berl) 102:285-292.
    • (2001) Acta Neuropathol (Berl) , vol.102 , pp. 285-292
    • Iseki, E.1    Matsumura, T.2    Marui, W.3    Hino, H.4    Odawara, T.5    Sugiyama, N.6    Suzuki, K.7    Sawada, H.8    Arai, T.9    Kosaka, K.10
  • 53
    • 0037413708 scopus 로고    scopus 로고
    • Repeat motifs of tau bind to the insides of microtubules in the absence of taxol
    • Kar S, Fan J, Smith MJ, Goedert M, Amos LA (2003) Repeat motifs of tau bind to the insides of microtubules in the absence of taxol. EMBO J 22:70-77.
    • (2003) EMBO J , vol.22 , pp. 70-77
    • Kar, S.1    Fan, J.2    Smith, M.J.3    Goedert, M.4    Amos, L.A.5
  • 58
    • 0035741925 scopus 로고    scopus 로고
    • Genetic analysis in patients with familial and sporadic frontotemporal dementia: Two tau mutations in only familial cases and no association with apolipoprotein epsilon4
    • Kowalska A, Asada T, Arima K, Kumakiri C, Kozubski W, Takahashi K, Tabira T (2001) Genetic analysis in patients with familial and sporadic frontotemporal dementia: two tau mutations in only familial cases and no association with apolipoprotein epsilon4. Dement Geriatr Cogn Disord 12:387-392.
    • (2001) Dement Geriatr Cogn Disord , vol.12 , pp. 387-392
    • Kowalska, A.1    Asada, T.2    Arima, K.3    Kumakiri, C.4    Kozubski, W.5    Takahashi, K.6    Tabira, T.7
  • 61
    • 0024675418 scopus 로고
    • The microtubule binding domain of tau protein
    • Lee G, Neve RL, Kosik KS (1989) The microtubule binding domain of tau protein. Neuron 2:1615-1624.
    • (1989) Neuron , vol.2 , pp. 1615-1624
    • Lee, G.1    Neve, R.L.2    Kosik, K.S.3
  • 67
    • 0034764622 scopus 로고    scopus 로고
    • Clinical and pathological diagnosis of frontotemporal dementia: Report of the Work Group on Frontotemporal Dementia and Pick's Disease
    • McKhann GM, Albert MS, Grossman M, Miller B, Dickson D, Trojanowski JQ (2001) 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) Arch Neurol , vol.58 , pp. 1803-1809
    • McKhann, G.M.1    Albert, M.S.2    Grossman, M.3    Miller, B.4    Dickson, D.5    Trojanowski, J.Q.6
  • 69
    • 0035947446 scopus 로고    scopus 로고
    • Amyloid beta protein deposition in patients with frontotemporal lobar degeneration: Relationship to age and apolipoprotein E genotype
    • Mann DM, McDonagh AM, Pickering-Brown SM, Kowa H, Iwatsubo T (2001) Amyloid beta protein deposition in patients with frontotemporal lobar degeneration: relationship to age and apolipoprotein E genotype. Neurosci Lett 304:161-164.
    • (2001) Neurosci Lett , vol.304 , pp. 161-164
    • Mann, D.M.1    McDonagh, A.M.2    Pickering-Brown, S.M.3    Kowa, H.4    Iwatsubo, T.5
  • 71
    • 0034950555 scopus 로고    scopus 로고
    • Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11-splice site in the tau gene
    • Miyamoto K, Kowalska A, Hasegawa M, Tabira T, Takahashi K, Araki W, Akiguchi I, Ikemoto A (2001) Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11-splice site in the tau gene. Ann Neurol 50:117-120.
    • (2001) Ann Neurol , vol.50 , pp. 117-120
    • Miyamoto, K.1    Kowalska, A.2    Hasegawa, M.3    Tabira, T.4    Takahashi, K.5    Araki, W.6    Akiguchi, I.7    Ikemoto, A.8
  • 81
    • 0035134195 scopus 로고    scopus 로고
    • Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene
    • Pastor P, Pastor E, Carnero C, Vela R, Garcia T, Amer G, Tolosa E, Oliva R (2001) Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene. Ann Neurol 49:263-267.
    • (2001) Ann Neurol , vol.49 , pp. 263-267
    • Pastor, P.1    Pastor, E.2    Carnero, C.3    Vela, R.4    Garcia, T.5    Amer, G.6    Tolosa, E.7    Oliva, R.8
  • 90
    • 0242353016 scopus 로고    scopus 로고
    • Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe
    • Rademakers R, Dermaut B, Peeters K, Cruts M, Heutink P, Goate A, Van Broeckhoven C (2003) Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe. Hum Mutat 22:409-411.
    • (2003) Hum Mutat , vol.22 , pp. 409-411
    • Rademakers, R.1    Dermaut, B.2    Peeters, K.3    Cruts, M.4    Heutink, P.5    Goate, A.6    Van Broeckhoven, C.7
  • 96
    • 0034642288 scopus 로고    scopus 로고
    • Mutation-dependent aggregation of tau protein and its selective depletion from the soluble fraction in brain of P301L FTDP-17 patients
    • Rizzu P, Joosse M, Ravid R, Hoogeveen A, Kamphorst W, van Swieten JC, Willemsen R, Heutink P (2000) Mutation-dependent aggregation of tau protein and its selective depletion from the soluble fraction in brain of P301L FTDP-17 patients. Hum Mol Genet 9:3075-3082.
    • (2000) Hum Mol Genet , vol.9 , pp. 3075-3082
    • Rizzu, P.1    Joosse, M.2    Ravid, R.3    Hoogeveen, A.4    Kamphorst, W.5    van Swieten, J.C.6    Willemsen, R.7    Heutink, P.8
  • 101
    • 0042922481 scopus 로고    scopus 로고
    • Total tau and phosphorylated tau 181 levels in the cerebrospinal fluid of patients with frontotemporal dementia due to P301L and G272V tau mutations
    • Rosso SM, van Herpen E, Pijnenburg YA, Schoonenboom NS, Scheltens P, Heutink P, van Swieten JC (2003) Total tau and phosphorylated tau 181 levels in the cerebrospinal fluid of patients with frontotemporal dementia due to P301L and G272V tau mutations. Arch Neurol 60:1209-1213.
    • (2003) Arch Neurol , vol.60 , pp. 1209-1213
    • Rosso, S.M.1    van Herpen, E.2    Pijnenburg, Y.A.3    Schoonenboom, N.S.4    Scheltens, P.5    Heutink, P.6    van Swieten, J.C.7
  • 105
    • 0030000867 scopus 로고    scopus 로고
    • Comparison of the neurofibrillary pathology in Alzheimer's disease and familial presenile dementia with tangles
    • Spillantini MG, Crowther RA, Goedert M (1996) Comparison of the neurofibrillary pathology in Alzheimer's disease and familial presenile dementia with tangles. Acta Neuropathol (Berl) 92:42-48.
    • (1996) Acta Neuropathol (Berl) , vol.92 , pp. 42-48
    • Spillantini, M.G.1    Crowther, R.A.2    Goedert, M.3
  • 106
    • 0030887854 scopus 로고    scopus 로고
    • Familial multiple system tauopathy with presenile dementia: A disease with abundant neuronal and glial tau filaments
    • Spillantini MG, Goedert M, Crowther RA, Murrell JR, Farlow MR, Ghetti B (1997) Familial multiple system tauopathy with presenile dementia: a disease with abundant neuronal and glial tau filaments. Proc Natl Acad Sci USA 94:4113-4118.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 4113-4118
    • Spillantini, M.G.1    Goedert, M.2    Crowther, R.A.3    Murrell, J.R.4    Farlow, M.R.5    Ghetti, B.6
  • 107
    • 0031949084 scopus 로고    scopus 로고
    • Frontotemporal dementia and parkinsonism linked to chromosome 17: A new group of tauopathies
    • Spillantini MG, Bird TD, Ghetti B (1998) Frontotemporal dementia and parkinsonism linked to chromosome 17: a new group of tauopathies. Brain Pathol 8:387-403.
    • (1998) Brain Pathol , vol.8 , pp. 387-403
    • Spillantini, M.G.1    Bird, T.D.2    Ghetti, B.3
  • 108
    • 0031738468 scopus 로고    scopus 로고
    • Tau pathology in two Dutch families with mutations in the microtubule-binding region of tau
    • Spillantini MG, Crowther RA, Kamphorst W, Heutink P, van Swieten J (1998) Tau pathology in two Dutch families with mutations in the microtubule-binding region of tau. Am J Pathol 153:1359-1363.
    • (1998) Am J Pathol , vol.153 , pp. 1359-1363
    • Spillantini, M.G.1    Crowther, R.A.2    Kamphorst, W.3    Heutink, P.4    van Swieten, J.5
  • 110
  • 112
    • 0034093228 scopus 로고    scopus 로고
    • Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: Expansion of the disease phenotype caused by tau gene mutations
    • Stanford PM, Halliday GM, Brooks WS, Kwok JB, Storey CE, Creasey H, Morris JG, Fulham MJ, Schofield PR (2000) Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations. Brain 123:880-893.
    • (2000) Brain , vol.123 , pp. 880-893
    • Stanford, P.M.1    Halliday, G.M.2    Brooks, W.S.3    Kwok, J.B.4    Storey, C.E.5    Creasey, H.6    Morris, J.G.7    Fulham, M.J.8    Schofield, P.R.9
  • 115
    • 0026567475 scopus 로고
    • Familial presenile dementia with psychosis associated with cortical neurofibrillary tangles and degeneration of the amygdala
    • Sumi SM, Bird TD, Nochlin D, Raskind MA (1992) Familial presenile dementia with psychosis associated with cortical neurofibrillary tangles and degeneration of the amygdala. Neurology 42:120-127.
    • (1992) Neurology , vol.42 , pp. 120-127
    • Sumi, S.M.1    Bird, T.D.2    Nochlin, D.3    Raskind, M.A.4
  • 118
    • 0033776859 scopus 로고    scopus 로고
    • A case of frontotemporal dementia with tau P301L mutation in the Far East
    • Tanaka R, Kobayashi T, Motoi Y, Anno M, Mizuno Y, Mori H (2000) A case of frontotemporal dementia with tau P301L mutation in the Far East. J Neurol 247:705-707.
    • (2000) J Neurol , vol.247 , pp. 705-707
    • Tanaka, R.1    Kobayashi, T.2    Motoi, Y.3    Anno, M.4    Mizuno, Y.5    Mori, H.6
  • 122
    • 0033529304 scopus 로고    scopus 로고
    • Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17
    • Varani L, Hasegawa M, Spillantini MG, Smith MJ, Murrell JR, Ghetti B, Klug A, Goedert M, Varani G (1999) Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17. Proc Natl Acad Sci USA 96:8229-8234.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 8229-8234
    • Varani, L.1    Hasegawa, M.2    Spillantini, M.G.3    Smith, M.J.4    Murrell, J.R.5    Ghetti, B.6    Klug, A.7    Goedert, M.8    Varani, G.9
  • 124
    • 1842483843 scopus 로고    scopus 로고
    • Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
    • Watts GD, Wymer J, Kovach MJ, Mehta SG, Mumm S, Darvish D, Pestronk A, Whyte MP, Kimonis VE (2004) Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet 36:377-381.
    • (2004) Nat Genet , vol.36 , pp. 377-381
    • Watts, G.D.1    Wymer, J.2    Kovach, M.J.3    Mehta, S.G.4    Mumm, S.5    Darvish, D.6    Pestronk, A.7    Whyte, M.P.8    Kimonis, V.E.9
  • 125
    • 0028073692 scopus 로고
    • Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22
    • Wilhelmsen KC, Lynch T, Pavlou E, Higgins M, Nygaard TG (1994) Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. Am J Hum Genet 55:1159-1165.
    • (1994) Am J Hum Genet , vol.55 , pp. 1159-1165
    • Wilhelmsen, K.C.1    Lynch, T.2    Pavlou, E.3    Higgins, M.4    Nygaard, T.G.5
  • 130
    • 0036488210 scopus 로고    scopus 로고
    • Functional effects of tau gene mutations deltaN296 and N296H
    • Yoshida H, Crowther RA, Goedert M (2002) Functional effects of tau gene mutations deltaN296 and N296H. J Neurochem 80:548-551.
    • (2002) J Neurochem , vol.80 , pp. 548-551
    • Yoshida, H.1    Crowther, R.A.2    Goedert, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.