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Volumn 259, Issue 6, 2012, Pages 1222-1226

Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease

Author keywords

Demyelinisation; Facial diplegia; Hereditary; Metabolism; Peripheral neuropathy

Indexed keywords

ABC TRANSPORTER A1; HIGH DENSITY LIPOPROTEIN CHOLESTEROL;

EID: 84862761777     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-6340-2     Document Type: Article
Times cited : (26)

References (15)
  • 1
    • 0029082507 scopus 로고
    • Defective removal of cellular cholesterol and phospholipids by apolipoprotein A-I in Tangier disease
    • 7615839 10.1172/JCI118082 1:CAS:528:DyaK2MXmslyrurk%3D
    • GA Francis RH Knopp JF Oram 1995 Defective removal of cellular cholesterol and phospholipids by apolipoprotein A-I in Tangier disease J Clin Invest 96 78 87 7615839 10.1172/JCI118082 1:CAS:528:DyaK2MXmslyrurk%3D
    • (1995) J Clin Invest , vol.96 , pp. 78-87
    • Francis, G.A.1    Knopp, R.H.2    Oram, J.F.3
  • 2
    • 0001071459 scopus 로고    scopus 로고
    • Familial high density lipoprotein deficiency: Tangier disease
    • C.S. Scriver A.L. Beaudet W.S. Sly (eds). Mc Graw-Hill New York
    • Assman G, von Eckardstein A, Brewer HB (2001) Familial high density lipoprotein deficiency: Tangier disease. In: Scriver CS, Beaudet AL, Sly WS (eds) The metabolic and molecular bases of inherited disease. Mc Graw-Hill, New York, pp 2053-2072
    • (2001) The metabolic and molecular bases of inherited disease , pp. 2053-2072
    • Assman, G.1    Von Eckardstein, A.2    Brewer, H.B.3
  • 3
    • 0021086937 scopus 로고
    • Peripheral neuropathy in Tangier disease
    • 6317140 10.1093/brain/106.4.911
    • M Pollock H Nukada RW Frith JP Simcock S Allpress 1983 Peripheral neuropathy in Tangier disease Brain 106 911 928 6317140 10.1093/brain/106.4.911
    • (1983) Brain , vol.106 , pp. 911-928
    • Pollock, M.1    Nukada, H.2    Frith, R.W.3    Simcock, J.P.4    Allpress, S.5
  • 5
    • 33646164174 scopus 로고    scopus 로고
    • Paranodal pathology in Tangier disease with remitting-relapsing multifocal neuropathy
    • 16678735 10.1016/j.jocn.2005.07.009 1:STN:280:DC%2BD28zksV2mtQ%3D%3D
    • Z Cai PC Blumbergs K Cash PJ Rice J Manavis J Swift, et al. 2006 Paranodal pathology in Tangier disease with remitting-relapsing multifocal neuropathy J Clin Neurosci 13 492 497 16678735 10.1016/j.jocn.2005.07.009 1:STN:280:DC%2BD28zksV2mtQ%3D%3D
    • (2006) J Clin Neurosci , vol.13 , pp. 492-497
    • Cai, Z.1    Blumbergs, P.C.2    Cash, K.3    Rice, P.J.4    Manavis, J.5    Swift, J.6
  • 6
    • 78649757011 scopus 로고    scopus 로고
    • Identification and characterization of novel loss of function mutations in ATP-binding cassette transporter A1 in patients with low plasma high-density lipoprotein cholesterol
    • 20880529 10.1016/j.atherosclerosis.2010.08.062 1:CAS:528: DC%2BC3cXhsFams7jL
    • C Candini AW Schimmel J Peter AE Bochem AG Holleboom M Vergeer RP Dullaart, et al. 2010 Identification and characterization of novel loss of function mutations in ATP-binding cassette transporter A1 in patients with low plasma high-density lipoprotein cholesterol Atherosclerosis 213 492 498 20880529 10.1016/j.atherosclerosis.2010.08.062 1:CAS:528:DC%2BC3cXhsFams7jL
    • (2010) Atherosclerosis , vol.213 , pp. 492-498
    • Candini, C.1    Schimmel, A.W.2    Peter, J.3    Bochem, A.E.4    Holleboom, A.G.5    Vergeer, M.6    Dullaart, R.P.7
  • 7
    • 0026340976 scopus 로고
    • Pathology of roots, spinal cord and brainstem in syringomyelia-like syndrome of Tangier disease
    • 1802966 10.1016/0022-510X(91)90255-6 1:STN:280:DyaK383gt12nsg%3D%3D
    • JC Antoine M Tommasi S Boucheron P Convers B Laurent D Michel 1991 Pathology of roots, spinal cord and brainstem in syringomyelia-like syndrome of Tangier disease J Neurol Sci 106 179 185 1802966 10.1016/0022-510X(91)90255-6 1:STN:280:DyaK383gt12nsg%3D%3D
    • (1991) J Neurol Sci , vol.106 , pp. 179-185
    • Antoine, J.C.1    Tommasi, M.2    Boucheron, S.3    Convers, P.4    Laurent, B.5    Michel, D.6
  • 8
    • 0242380866 scopus 로고    scopus 로고
    • A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease
    • 10.1093/brain/awg074
    • S Züchner AD Sperfeld J Senderek B Sellhaus CO Hanemann JM Schröder 2003 A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease Brain 126 20 27 10.1093/brain/awg074
    • (2003) Brain , vol.126 , pp. 20-27
    • S. Züchner1    Sperfeld, A.D.2    Senderek, J.3    Sellhaus, B.4    Hanemann, C.O.5    J.M. Schröder6
  • 9
    • 47349123253 scopus 로고    scopus 로고
    • Abetalipoproteinemia: Two case reports and literature review
    • 10.1186/1750-1172-3-19
    • R Zamel R Kahn RL Pollex RA Hegele 2008 Abetalipoproteinemia: two case reports and literature review Orph J Rare Dis 3 19 10.1186/1750-1172-3-19
    • (2008) Orph J Rare Dis , vol.3 , pp. 19
    • Zamel, R.1    Kahn, R.2    Pollex, R.L.3    Hegele, R.A.4
  • 10
    • 0034764947 scopus 로고    scopus 로고
    • Refsum disease, peroxisomes and phytanic acid oxidation: A review
    • 11706932 1:CAS:528:DC%2BD3MXosFChu78%3D
    • RJ Wanders GA Jansen OH Skjedal 2001 Refsum disease, peroxisomes and phytanic acid oxidation: a review J Neuropathol Exp Neurol 60 1021 1031 11706932 1:CAS:528:DC%2BD3MXosFChu78%3D
    • (2001) J Neuropathol Exp Neurol , vol.60 , pp. 1021-1031
    • Wanders, R.J.1    Jansen, G.A.2    Skjedal, O.H.3
  • 11
    • 0036216339 scopus 로고    scopus 로고
    • Cerebrotendinous xanthomatosis: A rare disease with diverse manifestations
    • 11939886 10.1001/archneur.59.4.527
    • MH Moghadasian G Salen JJ Frohlich CH Scudamore 2002 Cerebrotendinous xanthomatosis: a rare disease with diverse manifestations Arch Neurol 59 527 529 11939886 10.1001/archneur.59.4.527
    • (2002) Arch Neurol , vol.59 , pp. 527-529
    • Moghadasian, M.H.1    Salen, G.2    Frohlich, J.J.3    Scudamore, C.H.4
  • 12
    • 0242467726 scopus 로고    scopus 로고
    • APOA1 related amyloidosis: A case report and literature review
    • 14636880 10.1016/S0009-9120(03)00110-3 1:CAS:528:DC%2BD3sXptVWmtLo%3D
    • T Joy J Wang A Hahn RA Hegele 2003 APOA1 related amyloidosis: a case report and literature review Clin Biochem 36 641 645 14636880 10.1016/S0009-9120(03)00110-3 1:CAS:528:DC%2BD3sXptVWmtLo%3D
    • (2003) Clin Biochem , vol.36 , pp. 641-645
    • Joy, T.1    Wang, J.2    Hahn, A.3    Hegele, R.A.4
  • 13
    • 0032813660 scopus 로고    scopus 로고
    • Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1
    • 10431238 10.1038/11921 1:CAS:528:DyaK1MXltVShtb0%3D
    • S Rust M Rosier H Funke J Real Z Amoura JC Piette, et al. 1999 Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1 Nat Genet 22 352 355 10431238 10.1038/11921 1:CAS:528: DyaK1MXltVShtb0%3D
    • (1999) Nat Genet , vol.22 , pp. 352-355
    • Rust, S.1    Rosier, M.2    Funke, H.3    Real, J.4    Amoura, Z.5    Piette, J.C.6
  • 14
    • 58149237383 scopus 로고    scopus 로고
    • Severe Tangier disease with a novel ABCA1 gene mutation
    • 18955690 10.1212/01.wnl.0000327870.29639.20 1:STN:280: DC%2BD1cnovFGrtw%3D%3D
    • S Schippling M Orth U Beisiegel T Rosenkranz P Vogel A Münchau, et al. 2008 Severe Tangier disease with a novel ABCA1 gene mutation Neurology 71 1454 1455 18955690 10.1212/01.wnl.0000327870.29639.20 1:STN:280: DC%2BD1cnovFGrtw%3D%3D
    • (2008) Neurology , vol.71 , pp. 1454-1455
    • Schippling, S.1    Orth, M.2    Beisiegel, U.3    Rosenkranz, T.4    Vogel, P.5    A. Münchau6
  • 15
    • 33750127491 scopus 로고    scopus 로고
    • Variations on a gene: Rare and common variants in ABCA1 and their impact on HDL cholesterol levels and atherosclerosis
    • 16704350 10.1146/annurev.nutr.26.061505.111214 1:CAS:528: DC%2BD28Xpt1Clsbg%3D
    • LR Brunham RR Singaraja MR Hayden 2006 Variations on a gene: rare and common variants in ABCA1 and their impact on HDL cholesterol levels and atherosclerosis Annu Rev Nutr 26 105 129 16704350 10.1146/annurev.nutr.26. 061505.111214 1:CAS:528:DC%2BD28Xpt1Clsbg%3D
    • (2006) Annu Rev Nutr , vol.26 , pp. 105-129
    • Brunham, L.R.1    Singaraja, R.R.2    Hayden, M.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.