메뉴 건너뛰기




Volumn 17, Issue 11, 2010, Pages 1393-1395

Mutations in CHMP2B are not a cause of frontotemporal lobar degeneration in Finnish patients

Author keywords

Chromatin modifying protein 2B gene; Dementia; Frontotemporal lobar degeneration; Genetics

Indexed keywords

CHROMATIN MODIFYING PROTEIN 2B; CHROMOSOME PROTEIN; PROGRANULIN; TAU PROTEIN; UNCLASSIFIED DRUG;

EID: 78650429353     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2010.03028.x     Document Type: Article
Times cited : (16)

References (22)
  • 2
    • 34447096691 scopus 로고    scopus 로고
    • Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration
    • Cairns NJ, Bigio EH, Mackenzie IR, et al. Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration. Acta Neuropathol 2007; 114: 5-22.
    • (2007) Acta Neuropathol , vol.114 , pp. 5-22
    • Cairns, N.J.1    Bigio, E.H.2    Mackenzie, I.R.3
  • 3
    • 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, 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: 602-611.
    • (2006) Biochem Biophys Res Commun , vol.351 , pp. 602-611
    • Arai, T.1    Hasegawa, M.2    Akiyama, H.3
  • 4
    • 33749632259 scopus 로고    scopus 로고
    • Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
    • Neumann M, Sampathu DM, Kwong LK, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006; 314: 130-133.
    • (2006) Science , vol.314 , pp. 130-133
    • Neumann, M.1    Sampathu, D.M.2    Kwong, L.K.3
  • 5
    • 44949162153 scopus 로고    scopus 로고
    • Atypical frontotemporal lobar degeneration with ubiquitin-positive, TDP-43-negative neuronal inclusions
    • Mackenzie IR, Foti D, Woulfe J, et al. Atypical frontotemporal lobar degeneration with ubiquitin-positive, TDP-43-negative neuronal inclusions. Brain 2008; 131: 1282-1293.
    • (2008) Brain , vol.131 , pp. 1282-1293
    • Mackenzie, I.R.1    Foti, D.2    Woulfe, J.3
  • 6
    • 70350673956 scopus 로고    scopus 로고
    • A new subtype of frontotemporal lobar degeneration with FUS pathology
    • Neumann M, Rademakers R, Roeber S, et al. A new subtype of frontotemporal lobar degeneration with FUS pathology. Brain 2009; 132: 2922-2931.
    • (2009) Brain , vol.132 , pp. 2922-2931
    • Neumann, M.1    Rademakers, R.2    Roeber, S.3
  • 7
    • 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, et al. Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998; 393: 702-705.
    • (1998) Nature , vol.393 , pp. 702-705
    • Hutton, M.1    Lendon, C.L.2    Rizzu, P.3
  • 8
    • 33746919083 scopus 로고    scopus 로고
    • Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
    • Baker M, Mackenzie IR, Pickering-Brown SM, et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 2006; 442: 916-919.
    • (2006) Nature , vol.442 , pp. 916-919
    • Baker, M.1    Mackenzie, I.R.2    Pickering-Brown, S.M.3
  • 9
    • 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, et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 2006; 442: 920-924.
    • (2006) Nature , vol.442 , pp. 920-924
    • Cruts, M.1    Gijselinck, I.2    Van der Zee, J.3
  • 10
    • 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, et al. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet 2004; 36: 377-381.
    • (2004) Nat Genet , vol.36 , pp. 377-381
    • Watts, G.D.1    Wymer, J.2    Kovach, M.J.3
  • 11
    • 23044471011 scopus 로고    scopus 로고
    • Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
    • Skibinski G, Parkinson NJ, Brown JM, et al. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet 2005; 37: 806-808.
    • (2005) Nat Genet , vol.37 , pp. 806-808
    • Skibinski, G.1    Parkinson, N.J.2    Brown, J.M.3
  • 12
    • 33749006845 scopus 로고    scopus 로고
    • ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
    • Parkinson N, Ince PG, Smith MO, et al. ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). Neurology 2006; 67: 1074-1077.
    • (2006) Neurology , vol.67 , pp. 1074-1077
    • Parkinson, N.1    Ince, P.G.2    Smith, M.O.3
  • 13
    • 37849023471 scopus 로고    scopus 로고
    • CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro
    • Van der Zee J, Urwin H, Engelborghs S, et al. CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro. Hum Mol Genet 2008; 17: 313-322.
    • (2008) Hum Mol Genet , vol.17 , pp. 313-322
    • Van der Zee, J.1    Urwin, H.2    Engelborghs, S.3
  • 14
    • 44949251639 scopus 로고    scopus 로고
    • Frontotemporal dementia linked to chromosome 3 (FTD-3) - current concepts and the detection of a previously unknown branch of the Danish FTD-3 family
    • Lindquist SG, Braedgaard H, Svenstrup K, et al. Frontotemporal dementia linked to chromosome 3 (FTD-3) - current concepts and the detection of a previously unknown branch of the Danish FTD-3 family. Eur J Neurol 2008; 15: 667-670.
    • (2008) Eur J Neurol , vol.15 , pp. 667-670
    • Lindquist, S.G.1    Braedgaard, H.2    Svenstrup, K.3
  • 15
    • 34948838317 scopus 로고    scopus 로고
    • A reassessment of the neuropathology of frontotemporal dementia linked to chromosome 3
    • Holm IE, Englund E, Mackenzie IR, et al. A reassessment of the neuropathology of frontotemporal dementia linked to chromosome 3. J Neuropathol Exp Neurol 2007; 66: 884-891.
    • (2007) J Neuropathol Exp Neurol , vol.66 , pp. 884-891
    • Holm, I.E.1    Englund, E.2    Mackenzie, I.R.3
  • 16
    • 33646000253 scopus 로고    scopus 로고
    • CHMP2B mutations are not a common cause of frontotemporal lobar degeneration
    • Cannon A, Baker M, Boeve B, et al. CHMP2B mutations are not a common cause of frontotemporal lobar degeneration. Neurosci Lett 2006; 398: 83-84.
    • (2006) Neurosci Lett , vol.398 , pp. 83-84
    • Cannon, A.1    Baker, M.2    Boeve, B.3
  • 17
    • 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, 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; 141B: 944-946.
    • (2006) Am J Med Genet B Neuropsychiatr Genet , vol.141 B , pp. 944-946
    • Rizzu, P.1    Van Mil, S.E.2    Anar, B.3
  • 18
    • 33748432701 scopus 로고    scopus 로고
    • Genetic variability in CHMP2B and frontotemporal dementia
    • Momeni P, Rogaeva E, Van Deerlin V, et al. Genetic variability in CHMP2B and frontotemporal dementia. Neurodegener Dis 2006; 3: 129-133.
    • (2006) Neurodegener Dis , vol.3 , pp. 129-133
    • Momeni, P.1    Rogaeva, E.2    Van Deerlin, V.3
  • 19
    • 34548544455 scopus 로고    scopus 로고
    • No association of chromatin-modifying protein 2B with sporadic frontotemporal dementia
    • Schumacher A, Friedrich P, Diehl-Schmid J, et al. No association of chromatin-modifying protein 2B with sporadic frontotemporal dementia. Neurobiol Aging 2007; 28: 1789-1790.
    • (2007) Neurobiol Aging , vol.28 , pp. 1789-1790
    • Schumacher, A.1    Friedrich, P.2    Diehl-Schmid, J.3
  • 20
    • 58549092073 scopus 로고    scopus 로고
    • Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland
    • Kaivorinne AL, Krüger J, Kuivaniemi K, et al. Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland. BMC Neurology 2008; 8: 48.
    • (2008) BMC Neurology , vol.8 , pp. 48
    • Kaivorinne, A.L.1    Krüger, J.2    Kuivaniemi, K.3
  • 21
    • 57449097370 scopus 로고    scopus 로고
    • Low prevalence of progranulin mutations in Finnish patients with frontotemporal lobar degeneration
    • Krüger J, Kaivorinne AL, Udd B, et al. Low prevalence of progranulin mutations in Finnish patients with frontotemporal lobar degeneration. Eur J Neurol 2009; 16: 27-30.
    • (2009) Eur J Neurol , vol.16 , pp. 27-30
    • Krüger, J.1    Kaivorinne, A.L.2    Udd, B.3
  • 22
    • 0031672540 scopus 로고    scopus 로고
    • Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria
    • Neary D, Snowden JS, Gustafson L, et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 1998; 51: 1546-1554.
    • (1998) Neurology , vol.51 , pp. 1546-1554
    • Neary, D.1    Snowden, J.S.2    Gustafson, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.