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Volumn 135, Issue 3, 2012, Pages 652-655

Familial frontotemporal dementia and amyotrophic lateral sclerosis associated with the C9ORF72 hexanucleotide repeat

Author keywords

[No Author keywords available]

Indexed keywords

PROGRANULIN; TAR DNA BINDING PROTEIN; TAU PROTEIN;

EID: 84857612209     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/aws033     Document Type: Note
Times cited : (52)

References (22)
  • 1
    • 84863393788 scopus 로고    scopus 로고
    • Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72
    • Boeve BF, Boylan KB, Graff-Radford NR, De Jesus-Hernandez M, Knopman DS, Pedraza O, et al. Characterization of Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis Associated with the GGGGCC Repeat Expansion in C9ORF72. Brain 2012;135.
    • (2012) Brain , pp. 135
    • Boeve, B.F.1    Boylan, K.B.2    Graff-Radford, N.R.3    De Jesus-Hernandez, M.4    Knopman, D.S.5    Pedraza, O.6
  • 2
    • 80052924149 scopus 로고    scopus 로고
    • Motor neuron dysfunction in frontotemporal dementia
    • Burrell JR, Kiernan MC, Vucic S, Hodges JR. Motor neuron dysfunction in frontotemporal dementia. Brain 2011;134(Pt 9):2582-94.
    • (2011) Brain , vol.134 , Issue.9 PART , pp. 2582-2594
    • Burrell, J.R.1    Kiernan, M.C.2    Vucic, S.3    Hodges, J.R.4
  • 3
    • 85039799880 scopus 로고    scopus 로고
    • Clinical characteristics of familial ALS patients carrying the pathogenic GGGGCC hexanucleotide repeat expansion of the C9ORF72 gene
    • Chio A, Borghero G, Restagno G, Mora G, Drepper C, Traynor BJ, et al. Clinical characteristics of familial ALS patients carrying the pathogenic GGGGCC hexanucleotide repeat expansion of the C9ORF72 gene. Brain 2012.
    • (2012) Brain
    • Chio, A.1    Borghero, G.2    Restagno, G.3    Mora, G.4    Drepper, C.5    Traynor, B.J.6
  • 4
    • 84857054634 scopus 로고    scopus 로고
    • Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72
    • Cooper-Knock J, Shaw P, Hewitt C, Highley R, Brokington A, Milano A, et al. Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain 2012;135.
    • (2012) Brain , pp. 135
    • Cooper-Knock, J.1    Shaw, P.2    Hewitt, C.3    Highley, R.4    Brokington, A.5    Milano, A.6
  • 5
    • 80054832080 scopus 로고    scopus 로고
    • Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
    • De Jesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011;72:245-56.
    • (2011) Neuron , vol.72 , pp. 245-256
    • De Jesus-Hernandez, M.1    Mackenzie, I.R.2    Boeve, B.F.3    Boxer, A.L.4    Baker, M.5    Rutherford, N.J.6
  • 7
    • 74249101783 scopus 로고    scopus 로고
    • Semantic dementia: Demography, familial factors and survival in a consecutive series of 100 cases
    • Hodges JR, Mitchell J, Dawson K, Spillantini MG, Xuereb JH, McMonagle P, et al. Semantic dementia: demography, familial factors and survival in a consecutive series of 100 cases. Brain 2010;133(Pt 1):300-6.
    • (2010) Brain , vol.133 , Issue.1 PART , pp. 300-306
    • Hodges, J.R.1    Mitchell, J.2    Dawson, K.3    Spillantini, M.G.4    Xuereb, J.H.5    McMonagle, P.6
  • 8
    • 84857587514 scopus 로고    scopus 로고
    • Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutatoin on Chromosome 9p
    • Hsiung GY, De Jesus-Hernandez M, Feldman H, Sengdy P, Bouchard JP, Dwosh E, et al. Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutatoin on Chromosome 9p. Brain 2012;135.
    • (2012) Brain , pp. 135
    • Hsiung, G.Y.1    De Jesus-Hernandez, M.2    Feldman, H.3    Sengdy, P.4    Bouchard, J.P.5    Dwosh, E.6
  • 9
    • 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
  • 10
    • 77955044729 scopus 로고    scopus 로고
    • Neurobehavioral features in frontotemporal dementia with amyotrophic lateral sclerosis
    • Lillo P, Garcin B, Hornberger M, Bak TH, Hodges JR. Neurobehavioral features in frontotemporal dementia with amyotrophic lateral sclerosis. Arch Neurol 2010;67:826-30.
    • (2010) Arch Neurol , vol.67 , pp. 826-830
    • Lillo, P.1    Garcin, B.2    Hornberger, M.3    Bak, T.H.4    Hodges, J.R.5
  • 11
    • 54749127016 scopus 로고    scopus 로고
    • Pedigree with frontotemporal lobar degeneration-motor neuron disease and Tar DNA binding protein-43 positive neuropathology: Genetic linkage to chromosome 9
    • Luty AA, Kwok JB, Thompson EM, Blumbergs P, Brooks WS, Loy CT, et al. Pedigree with frontotemporal lobar degeneration-motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9. BMC Neurol 2008;8:32.
    • (2008) BMC Neurol , vol.8 , pp. 32
    • Luty, A.A.1    Kwok, J.B.2    Thompson, E.M.3    Blumbergs, P.4    Brooks, W.S.5    Loy, C.T.6
  • 12
    • 84857517997 scopus 로고    scopus 로고
    • Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: Clinical, neuroanatomical and neuropathological features
    • Mahoney C, Beck J, Rohrer J, Lashley T, Mok K, Yeatman T, et al. Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features. Brain 2012;135.
    • (2012) Brain , pp. 135
    • Mahoney, C.1    Beck, J.2    Rohrer, J.3    Lashley, T.4    Mok, K.5    Yeatman, T.6
  • 13
    • 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
  • 14
    • 0000665886 scopus 로고
    • Senile hirnatrophie als gundlage von hernderscheinunger, wiener klinische wochenschrift
    • Pick A. Senile Hirnatrophie als Gundlage von Hernderscheinunger, Wiener Klinische Wochenschrift. Monatschrift fur Psychiatrie und Neurologie 1901;14:403-4.
    • (1901) Monatschrift fur Psychiatrie und Neurologie , vol.14 , pp. 403-404
    • Pick, A.1
  • 15
    • 84941014963 scopus 로고
    • Zur symptomatologie der linksseitigen Schlafenlappenatrophie
    • Pick A. Zur symptomatologie der linksseitigen Schlafenlappenatrophie. Monatschrift fur Psychiatrie und Neurologie 1904;16:378-88.
    • (1904) Monatschrift fur Psychiatrie und Neurologie , vol.16 , pp. 378-388
    • Pick, A.1
  • 16
    • 80054837386 scopus 로고    scopus 로고
    • A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
    • Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011;72:257-68.
    • (2011) Neuron , vol.72 , pp. 257-268
    • Renton, A.E.1    Majounie, E.2    Waite, A.3    Simon-Sanchez, J.4    Rollinson, S.5    Gibbs, J.R.6
  • 19
    • 84863393065 scopus 로고    scopus 로고
    • Distinct clinical characteristics in patients with frontotemporal dementia and C9ORF72 mutations: A study of demographics, neurology, behaviour, cognition and histopathology
    • Snowden J, Rollinson S, Thompson J, Harris J, Stopford C, Richardson A, et al. Distinct clinical characteristics in patients with frontotemporal dementia and C9ORF72 mutations: a study of demographics, neurology, behaviour, cognition and histopathology. Brain 2012;135.
    • (2012) Brain , pp. 135
    • Snowden, J.1    Rollinson, S.2    Thompson, J.3    Harris, J.4    Stopford, C.5    Richardson, A.6
  • 21
    • 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(Pt 4):868-76.
    • (2006) Brain , vol.129 , Issue.4 PART , pp. 868-876
    • Vance, C.1    Al-Chalabi, A.2    Ruddy, D.3    Smith, B.N.4    Hu, X.5    Sreedharan, J.6
  • 22
    • 84857588946 scopus 로고    scopus 로고
    • Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics
    • Whitwell J, Weigand S, Boeve BF, Senjem M, Gunter J, De Jesus-Hernandez M, et al. Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain 2012;135.
    • (2012) Brain , pp. 135
    • Whitwell, J.1    Weigand, S.2    Boeve, B.F.3    Senjem, M.4    Gunter, J.5    De Jesus-Hernandez, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.