메뉴 건너뛰기




Volumn 131, Issue 3, 2008, Pages 721-731

Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: Comparison with patients with MAPT and no known mutations

Author keywords

Apraxia; Frontotemporal dementia; Genetics; MAPT; Progranulin; Progressive non fluent aphasia; Tau

Indexed keywords

PROGRANULIN;

EID: 39749187585     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awm331     Document Type: Article
Times cited : (167)

References (70)
  • 1
    • 33750716074 scopus 로고    scopus 로고
    • TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
    • Arai T, Hasegawa M, Akiyama H, Ikeda K, Nonaka T, Mori H, et al. TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Commun 2006; 351: 602-11.
    • (2006) Biochem Biophys Res Commun , vol.351 , pp. 602-611
    • Arai, T.1    Hasegawa, M.2    Akiyama, H.3    Ikeda, K.4    Nonaka, T.5    Mori, H.6
  • 2
    • 0033041179 scopus 로고    scopus 로고
    • Association of an extended haplotype in the tau gene with progressive supranuclear palsy
    • Baker M, Litvan I, Houlden H, Adamson J, Dickson D, Perez-Tur J, et al. Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum Mol Genet 1999; 8: 711-5.
    • (1999) Hum Mol Genet , vol.8 , pp. 711-715
    • Baker, M.1    Litvan, I.2    Houlden, H.3    Adamson, J.4    Dickson, D.5    Perez-Tur, J.6
  • 3
    • 33746919083 scopus 로고    scopus 로고
    • Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
    • Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 2006; 442: 916-9.
    • (2006) Nature , vol.442 , pp. 916-919
    • Baker, M.1    Mackenzie, I.R.2    Pickering-Brown, S.M.3    Gass, J.4    Rademakers, R.5    Lindholm, C.6
  • 4
    • 33947189591 scopus 로고    scopus 로고
    • Neuropathologic heterogeneity in HDDD1: A familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation
    • Behrens MI, Mukherjee O, Tu PH, Liscic RM, Grinberg LT, Carter D, et al. Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation. Alzheimer Dis Assoc Disord 2007; 21: 1-7.
    • (2007) Alzheimer Dis Assoc Disord , vol.21 , pp. 1-7
    • Behrens, M.I.1    Mukherjee, O.2    Tu, P.H.3    Liscic, R.M.4    Grinberg, L.T.5    Carter, D.6
  • 5
    • 85039794329 scopus 로고    scopus 로고
    • Benussi L, Binetti G, Sina E, Gigola L, Bettecken T, Meitinger T, et al. A noveldeletion in progranulin gene is associated with FTDP-17 and CBS. Neurobiol Aging 2006 (accession number 17157414).
    • Benussi L, Binetti G, Sina E, Gigola L, Bettecken T, Meitinger T, et al. A noveldeletion in progranulin gene is associated with FTDP-17 and CBS. Neurobiol Aging 2006 (accession number 17157414).
  • 7
    • 33750576831 scopus 로고    scopus 로고
    • Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: A clinicopathologic study
    • Boeve BF, Baker M, Dickson DW, Parisi JE, Giannini C, Josephs KA, et al. Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study. Brain 2006; 129: 3103-14.
    • (2006) Brain , vol.129 , pp. 3103-3114
    • Boeve, B.F.1    Baker, M.2    Dickson, D.W.3    Parisi, J.E.4    Giannini, C.5    Josephs, K.A.6
  • 11
    • 33746910649 scopus 로고    scopus 로고
    • Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
    • Cruts M, Gijselinck I, van der Zee J, Engelborghs S, Wils H, Pirici D, et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 2006; 442: 920-4.
    • (2006) Nature , vol.442 , pp. 920-924
    • Cruts, M.1    Gijselinck, I.2    van der Zee, J.3    Engelborghs, S.4    Wils, H.5    Pirici, D.6
  • 12
    • 34247625005 scopus 로고    scopus 로고
    • Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43
    • Davidson Y, Kelley T, Mackenzie IR, Pickering-Brown S, Du Plessis D, Neary D, et al. Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43. Acta Neuropathol 2007; 113: 521-33.
    • (2007) Acta Neuropathol , vol.113 , pp. 521-533
    • Davidson, Y.1    Kelley, T.2    Mackenzie, I.R.3    Pickering-Brown, S.4    Du Plessis, D.5    Neary, D.6
  • 16
    • 33749568019 scopus 로고    scopus 로고
    • Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration
    • Gass J, Cannon A, Mackenzie IR, Boeve B, Baker M, Adamson J, et al. Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet 2006; 15: 2988-3001.
    • (2006) Hum Mol Genet , vol.15 , pp. 2988-3001
    • Gass, J.1    Cannon, A.2    Mackenzie, I.R.3    Boeve, B.4    Baker, M.5    Adamson, J.6
  • 17
    • 0028223015 scopus 로고
    • Groups TLaM. Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester Groups
    • Groups TLaM. Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester Groups. J Neurol Neurosurg Psychiatry 1994; 57: 416-8.
    • (1994) J Neurol Neurosurg Psychiatry , vol.57 , pp. 416-418
  • 20
    • 0032543684 scopus 로고    scopus 로고
    • Association of missense and 5′ splice site mutations in tau with the inherited dementia FTDP-17
    • Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, et al. Association of missense and 5′ splice site mutations in tau with the inherited dementia FTDP-17. Nature 1998; 393: 702-5.
    • (1998) Nature , vol.393 , pp. 702-705
    • Hutton, M.1    Lendon, C.L.2    Rizzu, P.3    Baker, M.4    Froelich, S.5    Houlden, H.6
  • 21
    • 0037161233 scopus 로고    scopus 로고
    • Clinical features of frontotemporal dementia due to the intronic tau 10(+16) mutation
    • Janssen JC, Warrington EK, Morris HR, Lantos P, Brown J, Revesz T, et al. Clinical features of frontotemporal dementia due to the intronic tau 10(+16) mutation. Neurology 2002; 58: 1161-8.
    • (2002) Neurology , vol.58 , pp. 1161-1168
    • Janssen, J.C.1    Warrington, E.K.2    Morris, H.R.3    Lantos, P.4    Brown, J.5    Revesz, T.6
  • 22
    • 33846794448 scopus 로고    scopus 로고
    • Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations
    • Josephs KA, Ahmed Z, Katsuse O, Parisi JF, Boeve BF, Knopman DS, et al. Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations. J Neuropathol Exp Neurol 2007; 66: 142-51.
    • (2007) J Neuropathol Exp Neurol , vol.66 , pp. 142-151
    • Josephs, K.A.1    Ahmed, Z.2    Katsuse, O.3    Parisi, J.F.4    Boeve, B.F.5    Knopman, D.S.6
  • 25
    • 34249658365 scopus 로고    scopus 로고
    • A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology
    • Leverenz JB, Yu CE, Montine TJ, Steinbart E, Bekris LM, Zabetian C, et al. A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology. Brain 2007; 130: 1360-74.
    • (2007) Brain , vol.130 , pp. 1360-1374
    • Leverenz, J.B.1    Yu, C.E.2    Montine, T.J.3    Steinbart, E.4    Bekris, L.M.5    Zabetian, C.6
  • 26
    • 7744220605 scopus 로고    scopus 로고
    • Frontotemporal lobar degeneration with motor neuron disease-type inclusions predominates in 76 cases of frontotemporal degeneration
    • Lipton AM, White CL III, Bigio EH. Frontotemporal lobar degeneration with motor neuron disease-type inclusions predominates in 76 cases of frontotemporal degeneration. Acta Neuropathol 2004; 108: 379-85.
    • (2004) Acta Neuropathol , vol.108 , pp. 379-385
    • Lipton, A.M.1    White III, C.L.2    Bigio, E.H.3
  • 27
    • 33749668518 scopus 로고    scopus 로고
    • Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: Classification and relation to clinical phenotype
    • Mackenzie IR, Baborie A, Pickering-Brown S, Plessis DD, Jaros E, Perry RH, et al. Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype. Acta Neuropathol 2006a; 112: 539-49.
    • (2006) Acta Neuropathol , vol.112 , pp. 539-549
    • Mackenzie, I.R.1    Baborie, A.2    Pickering-Brown, S.3    Plessis, D.D.4    Jaros, E.5    Perry, R.H.6
  • 28
    • 33750590113 scopus 로고    scopus 로고
    • The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene
    • Mackenzie IR, Baker M, Pickering-Brown S, Hsiung GY, Lindholm C, Dwosh E, et al. The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene. Brain 2006b; 129: 3081-90.
    • (2006) Brain , vol.129 , pp. 3081-3090
    • Mackenzie, I.R.1    Baker, M.2    Pickering-Brown, S.3    Hsiung, G.Y.4    Lindholm, C.5    Dwosh, E.6
  • 29
    • 33645072728 scopus 로고    scopus 로고
    • A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17
    • Mackenzie IR, Baker M, West G, Woulfe J, Qadi N, Gass J, et al. A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17. Brain 2006c; 129: 853-67.
    • (2006) Brain , vol.129 , pp. 853-867
    • Mackenzie, I.R.1    Baker, M.2    West, G.3    Woulfe, J.4    Qadi, N.5    Gass, J.6
  • 30
    • 0038452351 scopus 로고    scopus 로고
    • Neuronal intranuclear inclusions distinguish familial FTD-MND type from sporadic cases
    • Mackenzie IR, Feldman H. Neuronal intranuclear inclusions distinguish familial FTD-MND type from sporadic cases. Acta Neuropathol 2003; 105: 543-8.
    • (2003) Acta Neuropathol , vol.105 , pp. 543-548
    • Mackenzie, I.R.1    Feldman, H.2
  • 32
    • 33750576830 scopus 로고    scopus 로고
    • Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome
    • Masellis M, Momeni P, Meschino W, Heffner R Jr, Elder J, Sato C, et al. Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome. Brain 2006; 129: 3115-23.
    • (2006) Brain , vol.129 , pp. 3115-3123
    • Masellis, M.1    Momeni, P.2    Meschino, W.3    Heffner Jr, R.4    Elder, J.5    Sato, C.6
  • 34
    • 33645062075 scopus 로고    scopus 로고
    • A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia
    • Morita M, Al-Chalabi A, Andersen PM, Hosler B, Sapp P, Englund E, et al. A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology 2006; 66: 839-44.
    • (2006) Neurology , vol.66 , pp. 839-844
    • Morita, M.1    Al-Chalabi, A.2    Andersen, P.M.3    Hosler, B.4    Sapp, P.5    Englund, E.6
  • 36
    • 33749499157 scopus 로고    scopus 로고
    • HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin
    • Mukherjee O, Pastor P, Cairns NJ, Chakraverty S, Kauwe JS, Shears S, et al. HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin. Ann Neurol 2006; 60: 314-22.
    • (2006) Ann Neurol , vol.60 , pp. 314-322
    • Mukherjee, O.1    Pastor, P.2    Cairns, N.J.3    Chakraverty, S.4    Kauwe, J.S.5    Shears, S.6
  • 38
    • 0031672540 scopus 로고    scopus 로고
    • Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria
    • Neary D, Snowden JS, Gustafson L, Passant U, Stuss D, Black S, et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 1998; 51: 1546-54.
    • (1998) Neurology , vol.51 , pp. 1546-1554
    • Neary, D.1    Snowden, J.S.2    Gustafson, L.3    Passant, U.4    Stuss, D.5    Black, S.6
  • 39
    • 33749632259 scopus 로고    scopus 로고
    • Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
    • Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006; 314: 130-3.
    • (2006) Science , vol.314 , pp. 130-133
    • Neumann, M.1    Sampathu, D.M.2    Kwong, L.K.3    Truax, A.C.4    Micsenyi, M.C.5    Chou, T.T.6
  • 40
    • 0942301376 scopus 로고    scopus 로고
    • Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutation
    • Pickering-Brown S, Baker M, Bird T, Trojanowski J, Lee V, Morris H, et al. Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutation. Am J Med Genet 2004; 125B: 79-82.
    • (2004) Am J Med Genet , vol.125 B , pp. 79-82
    • Pickering-Brown, S.1    Baker, M.2    Bird, T.3    Trojanowski, J.4    Lee, V.5    Morris, H.6
  • 41
    • 34447108549 scopus 로고    scopus 로고
    • Progranulin and frontotemporal lobar degeneration
    • Pickering-Brown SM. Progranulin and frontotemporal lobar degeneration. Acta Neuropathol 2007a; 114: 39-47.
    • (2007) Acta Neuropathol , vol.114 , pp. 39-47
    • Pickering-Brown, S.M.1
  • 42
    • 34250627671 scopus 로고    scopus 로고
    • The complex aetiology of frontotemporal lobar degeneration
    • Pickering-Brown SM. The complex aetiology of frontotemporal lobar degeneration. Exp Neurol 2007b; 206: 1-10.
    • (2007) Exp Neurol , vol.206 , pp. 1-10
    • Pickering-Brown, S.M.1
  • 43
  • 44
    • 0036205905 scopus 로고    scopus 로고
    • Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene
    • Pickering-Brown SM, Richardson AM, Snowden JS, McDonagh AM, Burns A, Braude W, et al. Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene. Brain 2002; 125: 732-51.
    • (2002) Brain , vol.125 , pp. 732-751
    • Pickering-Brown, S.M.1    Richardson, A.M.2    Snowden, J.S.3    McDonagh, A.M.4    Burns, A.5    Braude, W.6
  • 45
    • 0035108754 scopus 로고    scopus 로고
    • Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia
    • Poorkaj P, Grossman M, Steinbart E, Payami H, Sadovnick A, Nochlin D, et al. Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia. Arch Neurol 2001; 58: 383-7.
    • (2001) Arch Neurol , vol.58 , pp. 383-387
    • Poorkaj, P.1    Grossman, M.2    Steinbart, E.3    Payami, H.4    Sadovnick, A.5    Nochlin, D.6
  • 46
    • 34548633862 scopus 로고    scopus 로고
    • Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C->T (Arg493X) mutation: An international initiative
    • Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P, et al. Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C->T (Arg493X) mutation: an international initiative. Lancet Neurol 2007; 6: 857-68.
    • (2007) Lancet Neurol , vol.6 , pp. 857-868
    • Rademakers, R.1    Baker, M.2    Gass, J.3    Adamson, J.4    Huey, E.D.5    Momeni, P.6
  • 47
    • 33845464416 scopus 로고    scopus 로고
    • CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia
    • Rizzu P, van Mil SE, Anar B, Rosso SM, Kaat LD, Heutink P, et al. CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia. Am J Med Genet B Neuropsychiatr Genet 2006; 141: 944-6.
    • (2006) Am J Med Genet B Neuropsychiatr Genet , vol.141 , pp. 944-946
    • Rizzu, P.1    van Mil, S.E.2    Anar, B.3    Rosso, S.M.4    Kaat, L.D.5    Heutink, P.6
  • 48
    • 0033070197 scopus 로고    scopus 로고
    • High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands
    • Rizzu P, Van Swieten JC, Joosse M, Hasegawa M, Stevens M, Tibben A, et al. High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. Am J Hum Genet 1999; 64: 414-21.
    • (1999) Am J Hum Genet , vol.64 , pp. 414-421
    • Rizzu, P.1    Van Swieten, J.C.2    Joosse, M.3    Hasegawa, M.4    Stevens, M.5    Tibben, A.6
  • 50
    • 0034784189 scopus 로고    scopus 로고
    • Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22
    • Rosso SM, Kamphorst W, de Graaf B, Willemsen R, Ravid R, Niermeijer MF, et al. Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22. Brain 2001; 124: 1948-57.
    • (2001) Brain , vol.124 , pp. 1948-1957
    • Rosso, S.M.1    Kamphorst, W.2    de Graaf, B.3    Willemsen, R.4    Ravid, R.5    Niermeijer, M.F.6
  • 51
    • 33846076379 scopus 로고    scopus 로고
    • Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies
    • Sampathu DM, Neumann M, Kwong LK, Chou TT, Micsenyi M, Truax A, et al. Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies. Am J Pathol 2006; 169: 1343-52.
    • (2006) Am J Pathol , vol.169 , pp. 1343-1352
    • Sampathu, D.M.1    Neumann, M.2    Kwong, L.K.3    Chou, T.T.4    Micsenyi, M.5    Truax, A.6
  • 53
    • 34249712890 scopus 로고    scopus 로고
    • TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without progranulin mutations
    • Seelaar H, Jurgen Schelhaas H, Azmani A, Kusters B, Rosso S, Majoor-Krakauer D, et al. TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without progranulin mutations. Brain 2007; 130: 1375-85.
    • (2007) Brain , vol.130 , pp. 1375-1385
    • Seelaar, H.1    Jurgen Schelhaas, H.2    Azmani, A.3    Kusters, B.4    Rosso, S.5    Majoor-Krakauer, D.6
  • 54
    • 0028909113 scopus 로고
    • Monte Carlo tests for associations between disease and alleles at highly polymorphic loci
    • Sham PC, Curtis D. Monte Carlo tests for associations between disease and alleles at highly polymorphic loci. Ann Hum Genet 1995; 59: 97-105.
    • (1995) Ann Hum Genet , vol.59 , pp. 97-105
    • Sham, P.C.1    Curtis, D.2
  • 55
    • 27944491570 scopus 로고    scopus 로고
    • Histopathological changes underlying frontotemporal lobar degeneration with clinicopathological correlation
    • Shi J, Shaw CL, Du Plessis D, Richardson AM, Bailey KL, Julien C, et al. Histopathological changes underlying frontotemporal lobar degeneration with clinicopathological correlation. Acta Neuropathol 2005; 110: 501-12.
    • (2005) Acta Neuropathol , vol.110 , pp. 501-512
    • Shi, J.1    Shaw, C.L.2    Du Plessis, D.3    Richardson, A.M.4    Bailey, K.L.5    Julien, C.6
  • 56
    • 33745748889 scopus 로고    scopus 로고
    • Shiarli AM, Jennings R, Shi J, Bailey K, Davidson Y, Tian J, et al. Comparison of extent of tau pathology in patients with frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17), frontotemporal lobar degeneration with Pick bodies and early onset Alzheimer's disease. Neuropath Appl Neurobiol 2006; 32: 374-87.
    • Shiarli AM, Jennings R, Shi J, Bailey K, Davidson Y, Tian J, et al. Comparison of extent of tau pathology in patients with frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17), frontotemporal lobar degeneration with Pick bodies and early onset Alzheimer's disease. Neuropath Appl Neurobiol 2006; 32: 374-87.
  • 58
    • 34447099564 scopus 로고    scopus 로고
    • Frontotemporal lobar degeneration: Clinical and pathological relationships
    • Snowden J, Neary D, Mann D. Frontotemporal lobar degeneration: clinical and pathological relationships. Acta Neuropathol 2007; 114: 31-8.
    • (2007) Acta Neuropathol , vol.114 , pp. 31-38
    • Snowden, J.1    Neary, D.2    Mann, D.3
  • 59
    • 0038819055 scopus 로고    scopus 로고
    • Progressive anomia with preserved oral spelling and automatic speech
    • Snowden JS, Neary D. Progressive anomia with preserved oral spelling and automatic speech. Neurocase 2003; 9: 27-43.
    • (2003) Neurocase , vol.9 , pp. 27-43
    • Snowden, J.S.1    Neary, D.2
  • 60
    • 33750599059 scopus 로고    scopus 로고
    • Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia
    • Snowden JS, Pickering-Brown SM, Mackenzie IR, Richardson AM, Varma A, Neary D, et al. Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia. Brain 2006; 129: 3091-102.
    • (2006) Brain , vol.129 , pp. 3091-3102
    • Snowden, J.S.1    Pickering-Brown, S.M.2    Mackenzie, I.R.3    Richardson, A.M.4    Varma, A.5    Neary, D.6
  • 61
    • 34047224991 scopus 로고    scopus 로고
    • Clinicopathologic features of frontotemporal dementia with progranulin sequence variation
    • Spina S, Murrell JR, Huey ED, Wassermann EM, Pietrini P, Baraibar MA, et al. Clinicopathologic features of frontotemporal dementia with progranulin sequence variation. Neurology 2007; 68: 820-7.
    • (2007) Neurology , vol.68 , pp. 820-827
    • Spina, S.1    Murrell, J.R.2    Huey, E.D.3    Wassermann, E.M.4    Pietrini, P.5    Baraibar, M.A.6
  • 62
    • 0242691208 scopus 로고    scopus 로고
    • A comparison of bayesian methods for haplotype reconstruction from population genotype data
    • Stephens M, Donnelly P. A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 2003; 73: 1162-9.
    • (2003) Am J Hum Genet , vol.73 , pp. 1162-1169
    • Stephens, M.1    Donnelly, P.2
  • 63
    • 34247606414 scopus 로고    scopus 로고
    • TDP-43 immunoreactivity in neuronal inclusions in familial amyotrophic lateral sclerosis with or without SOD1 gene mutation
    • Tan CF, Eguchi H, Tagawa A, Onodera O, Iwasaki T, Tsujino A, et al. TDP-43 immunoreactivity in neuronal inclusions in familial amyotrophic lateral sclerosis with or without SOD1 gene mutation. Acta Neuropathol 2007; 113: 535-42.
    • (2007) Acta Neuropathol , vol.113 , pp. 535-542
    • Tan, C.F.1    Eguchi, H.2    Tagawa, A.3    Onodera, O.4    Iwasaki, T.5    Tsujino, A.6
  • 64
    • 0842265475 scopus 로고    scopus 로고
    • The neuropathology of frontotemporal lobar degeneration with respect to the cytological and biochemical characteristics of tau protein
    • Taniguchi S, McDonagh AM, Pickering-Brown SM, Umeda Y, Iwatsubo T, Hasegawa M, et al. The neuropathology of frontotemporal lobar degeneration with respect to the cytological and biochemical characteristics of tau protein. Neuropathol Appl Neurobiol 2004; 30: 1-18.
    • (2004) Neuropathol Appl Neurobiol , vol.30 , pp. 1-18
    • Taniguchi, S.1    McDonagh, A.M.2    Pickering-Brown, S.M.3    Umeda, Y.4    Iwatsubo, T.5    Hasegawa, M.6
  • 65
    • 34247868937 scopus 로고    scopus 로고
    • Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia
    • van der Zee J, Le Ber I, Maurer-Stroh S, Engelborghs S, Gijselinck I, Camuzat A, et al. Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia. Hum Mutat 2007; 28: 416.
    • (2007) Hum Mutat , vol.28 , pp. 416
    • van der Zee, J.1    Le Ber, I.2    Maurer-Stroh, S.3    Engelborghs, S.4    Gijselinck, I.5    Camuzat, A.6
  • 66
    • 33645089933 scopus 로고    scopus 로고
    • A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD
    • van der Zee J, Rademakers R, Engelborghs S, Gijselinck I, Bogaerts V, Vandenberghe R, et al. A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD. Brain 2006; 129: 841-52.
    • (2006) Brain , vol.129 , pp. 841-852
    • van der Zee, J.1    Rademakers, R.2    Engelborghs, S.3    Gijselinck, I.4    Bogaerts, V.5    Vandenberghe, R.6
  • 67
    • 33645069660 scopus 로고    scopus 로고
    • Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3
    • Vance C, Al-Chalabi A, Ruddy D, Smith BN, Hu X, Sreedharan J, et al. Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. Brain 2006; 129: 868-76.
    • (2006) Brain , vol.129 , pp. 868-876
    • Vance, C.1    Al-Chalabi, A.2    Ruddy, D.3    Smith, B.N.4    Hu, X.5    Sreedharan, J.6
  • 68
    • 12144288280 scopus 로고    scopus 로고
    • 17q-linked frontotemporal dementia-amyotrophic lateral sclerosis without tau mutations with tau and alpha-synuclein inclusions
    • Wilhelmsen KC, Forman MS, Rosen HJ, Alving LI, Goldman J, Feiger J, et al. 17q-linked frontotemporal dementia-amyotrophic lateral sclerosis without tau mutations with tau and alpha-synuclein inclusions. Arch Neurol 2004; 61: 398-406.
    • (2004) Arch Neurol , vol.61 , pp. 398-406
    • Wilhelmsen, K.C.1    Forman, M.S.2    Rosen, H.J.3    Alving, L.I.4    Goldman, J.5    Feiger, J.6
  • 69
    • 0034896957 scopus 로고    scopus 로고
    • Frontotemporal dementia with ubiquitinated cytoplasmic and intranuclear inclusions
    • Woulfe J, Kertesz A, Munoz DG. Frontotemporal dementia with ubiquitinated cytoplasmic and intranuclear inclusions. Acta Neuropathol 2001; 102: 94-102.
    • (2001) Acta Neuropathol , vol.102 , pp. 94-102
    • Woulfe, J.1    Kertesz, A.2    Munoz, D.G.3
  • 70
    • 44949215794 scopus 로고    scopus 로고
    • Xiao S, Sato C, Kawarai T, Goodall EF, Pall HS, Zinman LH, et al. Genetic studies of GRN and IFT74 in amyotrophic lateral sclerosis. Neurobiol Aging 2007 (accession number 17383054).
    • Xiao S, Sato C, Kawarai T, Goodall EF, Pall HS, Zinman LH, et al. Genetic studies of GRN and IFT74 in amyotrophic lateral sclerosis. Neurobiol Aging 2007 (accession number 17383054).


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.