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Volumn 13, Issue 5, 2010, Pages 509-517

TARDBP mutations in frontotemporal lobar degeneration: Frequency, clinical features, and disease course

Author keywords

[No Author keywords available]

Indexed keywords

5' UNTRANSLATED REGION; ADULT; AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; EXON; FEMALE; FOLLOW UP; FRONTOTEMPORAL DEMENTIA; GENE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MOTOR NEURON DISEASE; NEUROIMAGING; NEUROPSYCHOLOGICAL TEST; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; TARDBP GENE;

EID: 78649998539     PISSN: 15491684     EISSN: None     Source Type: Journal    
DOI: 10.1089/rej.2010.1017     Document Type: Article
Times cited : (70)

References (30)
  • 5
    • 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. 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    Mehta, S.G.4    Mumm, S.5    Darvish, D.6    Pestronk, A.7    Whyte, M.P.8    Kimonis, V.E.9
  • 8
    • 0034764622 scopus 로고    scopus 로고
    • Clinical and pathological diagnosis of frontotemporal dementia: Report of the Work Group on Frontotemporal Dementia and Pick's Disease
    • Work Group on Frontotemporal Dementia and Pick's Disease
    • McKhann GM, Albert MS, Grossman M, Miller B, Dickson D, Trojanowski JQ; Work Group on Frontotemporal Dementia and Pick's Disease. Clinical and pathological diagnosis of frontotemporal dementia: Report of the Work Group on Frontotemporal Dementia and Pick's Disease. Arch Neurol 2001;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
  • 17
    • 38449102667 scopus 로고    scopus 로고
    • Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease
    • Buratti E, Baralle FE. Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease. Front Biosci 2008;13:867-878.
    • (2008) Front Biosci , vol.13 , pp. 867-878
    • Buratti, E.1    Baralle, F.E.2
  • 18
    • 0001111974 scopus 로고
    • Cortico-basal ganglionic degeneration
    • Calne D, ed Philadelphia: WB Saunders
    • Lang AE, Riley DE, Bergeron C. Cortico-basal ganglionic degeneration. In: Calne D, ed. Neurodegenerative diseases. Philadelphia: WB Saunders, 1994: 877-894.
    • (1994) Neurodegenerative Diseases , pp. 877-894
    • Lang, A.E.1    Riley, D.E.2    Bergeron, C.3
  • 20
    • 34447103093 scopus 로고    scopus 로고
    • TDP-43 proteinopathy: The neuropathology underlying major forms of sporadic and familial fronto-temporal lobar degeneration and motor neuron disease
    • Kwong LK, Neumann M, Sampathu DM, Lee VM, Troja-nowski JQ. TDP-43 proteinopathy: The neuropathology underlying major forms of sporadic and familial fronto-temporal lobar degeneration and motor neuron disease. Acta Neuropathol 2007;114:63-70.
    • (2007) Acta Neuropathol , vol.114 , pp. 63-70
    • Kwong, L.K.1    Neumann, M.2    Sampathu, D.M.3    Lee, V.M.4    Troja-Nowski, J.Q.5
  • 21
    • 73249152831 scopus 로고    scopus 로고
    • TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration
    • Wegorzewska I, Bell S, Cairns NJ, Miller TM, Baloh RH. TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration. Proc Natl Acad Sci USA 2009;106:18809-18814.
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 18809-18814
    • Wegorzewska, I.1    Bell, S.2    Cairns, N.J.3    Miller, T.M.4    Baloh, R.H.5
  • 27
    • 68249121529 scopus 로고    scopus 로고
    • Missed threads. The impact of pre-mRNA splicing defects on clinical practice
    • Baralle D, Lucassen A, Buratti E. Missed threads. The impact of pre-mRNA splicing defects on clinical practice. EMBO Rep 2009;10:810-816.
    • (2009) EMBO Rep , vol.10 , pp. 810-816
    • Baralle, D.1    Lucassen, A.2    Buratti, E.3
  • 28
    • 70349246333 scopus 로고    scopus 로고
    • Genetic variants in the promoter of TARDBP in sporadic amyo-trophic lateral sclerosis
    • Luquin N, Yu B, Saunderson RB, Trent RJ, Pamphlett R. Genetic variants in the promoter of TARDBP in sporadic amyo-trophic lateral sclerosis. Neuromuscul Disord 2009;19:696-700.
    • (2009) Neuromuscul Disord , vol.19 , pp. 696-700
    • Luquin, N.1    Yu, B.2    Saunderson, R.B.3    Trent, R.J.4    Pamphlett, R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.