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Volumn 1, Issue 3, 2006, Pages 131-139

Genetics of ischaemic stroke; single gene disorders

Author keywords

CAOASIL; Genetic disorders; Ischaemic stroke; MELAS

Indexed keywords

ARGININE; COLLAGEN TYPE 1; COLLAGEN TYPE 4; COLLAGEN TYPE 4 ALPHA1 CHAIN; DICHLOROACETIC ACID; FIBRILLIN 1; NEUROFIBROMIN; NOTCH3 RECEPTOR; ORAL CONTRACEPTIVE AGENT; UNCLASSIFIED DRUG;

EID: 33746585808     PISSN: 17474930     EISSN: 17474949     Source Type: Journal    
DOI: 10.1111/j.1747-4949.2006.00037.x     Document Type: Review
Times cited : (8)

References (81)
  • 1
    • 0033843087 scopus 로고    scopus 로고
    • Genetics and ischaemic stroke
    • Hassan A, Markus HS: Genetics and ischaemic stroke. Brain 2000; 123: 1784-812.
    • (2000) Brain , vol.123 , pp. 1784-1812
    • Hassan, A.1    Markus, H.S.2
  • 2
    • 0023939665 scopus 로고
    • The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17
    • Munke M, Kraus JP, Ohura T, Francke U.: The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17. Am J Hum Genet 1988; 42: 550-9.
    • (1988) Am J Hum Genet , vol.42 , pp. 550-559
    • Munke, M.1    Kraus, J.P.2    Ohura, T.3    Francke, U.4
  • 3
    • 0028001103 scopus 로고
    • Komrower lecture. Molecular basis of phenotype expression in homocystinuria
    • Kraus JP.: Komrower lecture. Molecular basis of phenotype expression in homocystinuria. J Inherit Metab Dis 1994; 17: 383-90.
    • (1994) J Inherit Metab Dis , vol.17 , pp. 383-390
    • Kraus, J.P.1
  • 4
    • 0029068922 scopus 로고
    • The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations
    • Sebastio G, Sperandeo MP, Panico M, Kraus JP, Andria G.: The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations. Am J Hum Genet 1995; 56: 1324-33.
    • (1995) Am J Hum Genet , vol.56 , pp. 1324-1333
    • Sebastio, G.1    Sperandeo, M.P.2    Panico, M.3    Kraus, J.P.4    Andria, G.5
  • 5
    • 0021894152 scopus 로고
    • The natural history of homocystinuria due to cystathionine beta-synthase deficiency
    • Mudd SH, Skovby F, Levy HL et al. The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet 1985; 37: 1-31.
    • (1985) Am J Hum Genet , vol.37 , pp. 1-31
    • Mudd, S.H.1    Skovby, F.2    Levy, H.L.3
  • 6
    • 0037469194 scopus 로고    scopus 로고
    • Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency
    • Kelly PJ, Furie KL, Kistler JP et al. Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency. Neurology 2003; 60: 275-9.
    • (2003) Neurology , vol.60 , pp. 275-279
    • Kelly, P.J.1    Furie, K.L.2    Kistler, J.P.3
  • 7
    • 0000258488 scopus 로고
    • Familial type 3 hyperlipoproteinemia
    • in Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein RJ, Brown MS (eds): New York: McGraw-Hill
    • Brown MS, Goldstein JL, Fredrickson DS.: Familial type 3 hyperlipoproteinemia; in Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein RJ, Brown MS (eds): The Metabolic Basis of Inherited Disease. New York: McGraw-Hill, 1983: 655-71.
    • (1983) The Metabolic Basis of Inherited Disease , pp. 655-671
    • Brown, M.S.1    Goldstein, J.L.2    Fredrickson, D.S.3
  • 8
    • 0023275907 scopus 로고
    • Mendelian etiologies of stroke
    • Natowicz M, Kelley RI.: Mendelian etiologies of stroke. Ann Neurol 1987; 22: 175-92.
    • (1987) Ann Neurol , vol.22 , pp. 175-192
    • Natowicz, M.1    Kelley, R.I.2
  • 10
    • 0025134978 scopus 로고
    • A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms
    • Kontusaari S, Tromp G, Kuivaniemi H, Romanic AM, Prockop DJ.: A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms. J Clin Invest 1990; 86: 1465-73.
    • (1990) J Clin Invest , vol.86 , pp. 1465-1473
    • Kontusaari, S.1    Tromp, G.2    Kuivaniemi, H.3    Romanic, A.M.4    Prockop, D.J.5
  • 11
    • 0025370518 scopus 로고
    • Inheritance of an RNA splicing mutation (G+1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: Phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV
    • Kontusaari S, Tromp G, Kuivaniemi H, Ladda RL, Prockop DJ.: Inheritance of an RNA splicing mutation (G+1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV. Am J Hum Genet 1990; 47: 112-20.
    • (1990) Am J Hum Genet , vol.47 , pp. 112-120
    • Kontusaari, S.1    Tromp, G.2    Kuivaniemi, H.3    Ladda, R.L.4    Prockop, D.J.5
  • 12
    • 0025727198 scopus 로고
    • G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV
    • Lee B, Vitale E, Superti-Furga A, Steinmann B, Ramirez F.: G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV. J Biol Chem 1991; 266: 5256-9.
    • (1991) J Biol Chem , vol.266 , pp. 5256-5259
    • Lee, B.1    Vitale, E.2    Superti-Furga, A.3    Steinmann, B.4    Ramirez, F.5
  • 14
    • 0026319619 scopus 로고
    • cDNA cloning of the type 1 neurofibromatosis gene: Complete sequence of the NF1 gene product
    • Marchuk DA, Saulino AM, Tavakkol R et al. cDNA cloning of the type 1 neurofibromatosis gene: Complete sequence of the NF1 gene product. Genomics 1991; 11: 931-40.
    • (1991) Genomics , vol.11 , pp. 931-940
    • Marchuk, D.A.1    Saulino, A.M.2    Tavakkol, R.3
  • 15
    • 0020265168 scopus 로고
    • Type I osteogenesis imperfecta: A nonfunctional allele for proalpha 1(I) chains of type I procollagen
    • Barsh GS, David KE, Byers AH.: Type I osteogenesis imperfecta: a nonfunctional allele for proalpha 1(I) chains of type I procollagen. Proc Natl Acad Sci 1982; 79: 3838-42.
    • (1982) Proc Natl Acad Sci , vol.79 , pp. 3838-3842
    • Barsh, G.S.1    David, K.E.2    Byers, P.H.3
  • 16
    • 0000399828 scopus 로고
    • Encephalopathie sous-corticale progressive (Binswanger) évolution rapide chez deux soeurs
    • van Bogaert L.: Encephalopathie sous-corticale progressive (Binswanger) évolution rapide chez deux soeurs. Med Hellen 1955; 24: 961-72.
    • (1955) Med Hellen , vol.24 , pp. 961-972
    • van Bogaert, L.1
  • 17
    • 0017750160 scopus 로고
    • Hereditary multi-infarct dementia. Morphological and clinical studies of a new disease
    • Sourander P, Walinder J.: Hereditary multi-infarct dementia. Morphological and clinical studies of a new disease. Acta Neuropathol (Berlin) 1977; 39: 247-54.
    • (1977) Acta Neuropathol (Berlin) , vol.39 , pp. 247-254
    • Sourander, P.1    Walinder, J.2
  • 19
    • 0000255349 scopus 로고
    • Familiäre zerebrale Gefäβerkrankung
    • Colmant HJ.: Familiäre zerebrale Gefäβerkrankung. Zbl Allgemein Pathologie 1980; 124: 163.
    • (1980) Zbl Allgemein Pathologie , vol.124 , pp. 163
    • Colmant, H.J.1
  • 20
    • 0025735586 scopus 로고
    • Familial subcortical dementia with arteriopathic leukoencephalopathy. A clinico-pathological case
    • Davous P, Fallet-Bianco C.: Familial subcortical dementia with arteriopathic leukoencephalopathy. A clinico-pathological case. Rev Neurol (Paris) 1991; 147: 376-84.
    • (1991) Rev Neurol (Paris) , vol.147 , pp. 376-384
    • Davous, P.1    Fallet-Bianco, C.2
  • 21
    • 0025947095 scopus 로고
    • Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy
    • Tournier-Lasserve E, Iba-Zizen MT, Romero N, Bousser MG.: Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy. Stroke 1991; 22: 1297-302.
    • (1991) Stroke , vol.22 , pp. 1297-1302
    • Tournier-Lasserve, E.1    Iba-Zizen, M.T.2    Romero, N.3    Bousser, M.G.4
  • 23
    • 17644376503 scopus 로고    scopus 로고
    • The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland
    • Razvi SS, Davidson R, Bone I, Muir KW.: The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland. J Neurol Neurosurg Psychiatry 2005; 76: 739-41.
    • (2005) J Neurol Neurosurg Psychiatry , vol.76 , pp. 739-741
    • Razvi, S.S.1    Davidson, R.2    Bone, I.3    Muir, K.W.4
  • 24
    • 0027479304 scopus 로고
    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12
    • Tournier-Lasserve E, Joutel A, Melki J et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet 1993; 3: 256-9.
    • (1993) Nat Genet , vol.3 , pp. 256-259
    • Tournier-Lasserve, E.1    Joutel, A.2    Melki, J.3
  • 25
    • 0027306090 scopus 로고
    • A gene for familial hemiplegic migraine maps to chromosome 19
    • Joutel A, Bousser MG, Biousse V et al. A gene for familial hemiplegic migraine maps to chromosome 19. Nat Genet 1993; 5: 40-5.
    • (1993) Nat Genet , vol.5 , pp. 40-45
    • Joutel, A.1    Bousser, M.G.2    Biousse, V.3
  • 26
    • 16044362074 scopus 로고    scopus 로고
    • Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
    • Joutel A, Corpechot C, Ducros A et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 1996; 383: 707-10.
    • (1996) Nature , vol.383 , pp. 707-710
    • Joutel, A.1    Corpechot, C.2    Ducros, A.3
  • 27
    • 0029932262 scopus 로고    scopus 로고
    • Identification of a key recombinant narrows the CADASIL gene region to 8 cM and argues against allelism of CADASIL and familial hemiplegic migraine
    • Dichgans M, Mayer M, Müller-Myhsok B, Straube A, Gasser T.: Identification of a key recombinant narrows the CADASIL gene region to 8 cM and argues against allelism of CADASIL and familial hemiplegic migraine. Genomics 1996; 32: 151-4.
    • (1996) Genomics , vol.32 , pp. 151-154
    • Dichgans, M.1    Mayer, M.2    Müller-Myhsok, B.3    Straube, A.4    Gasser, T.5
  • 28
    • 16044370232 scopus 로고    scopus 로고
    • Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4
    • Ophoff RA, Terwindt GM, Vergouwe MN et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 1996; 87: 543-52.
    • (1996) Cell , vol.87 , pp. 543-552
    • Ophoff, R.A.1    Terwindt, G.M.2    Vergouwe, M.N.3
  • 29
    • 0029116848 scopus 로고
    • Facilitation of lin-12-mediated signalling by sel-12, a Caenorhabditis elegans S182 Alzheimer's disease gene
    • Levitan D, Greenwald I: Facilitation of lin-12-mediated signalling by sel-12, a Caenorhabditis elegans S182 Alzheimer's disease gene. Nature 1995; 377: 351-4.
    • (1995) Nature , vol.377 , pp. 351-354
    • Levitan, D.1    Greenwald, I.2
  • 30
    • 11144229547 scopus 로고    scopus 로고
    • Impaired vascular mechanotransduction in a transgenic mouse model of CADASIL arteriopathy
    • Dubroca C, Lacombe P, Domenga V et al. Impaired vascular mechanotransduction in a transgenic mouse model of CADASIL arteriopathy. Stroke 2005; 36: 113-7.
    • (2005) Stroke , vol.36 , pp. 113-117
    • Dubroca, C.1    Lacombe, P.2    Domenga, V.3
  • 31
    • 18244362302 scopus 로고    scopus 로고
    • Impaired cerebral vasoreactivity in a transgenic mouse model of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy arteriopathy
    • Lacombe P, Oligo C, Domenga V, Tournier-Lasserve E, Joutel A.: Impaired cerebral vasoreactivity in a transgenic mouse model of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy arteriopathy. Stroke 2005; 36: 1053-8.
    • (2005) Stroke , vol.36 , pp. 1053-1058
    • Lacombe, P.1    Oligo, C.2    Domenga, V.3    Tournier-Lasserve, E.4    Joutel, A.5
  • 32
    • 33645674144 scopus 로고    scopus 로고
    • Physiology and pathology of notch signalling system
    • Bianchi S, Dotti MT, Federico A: Physiology and pathology of notch signalling system. J Cell Physiol 2006; 207: 300-8.
    • (2006) J Cell Physiol , vol.207 , pp. 300-308
    • Bianchi, S.1    Dotti, M.T.2    Federico, A.3
  • 33
    • 0031590602 scopus 로고    scopus 로고
    • Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients
    • Joutel A, Vahedi K, Corpechot C et al. Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. The Lancet 1997; 350: 1511-5.
    • (1997) The Lancet , vol.350 , pp. 1511-1515
    • Joutel, A.1    Vahedi, K.2    Corpechot, C.3
  • 35
    • 0034894102 scopus 로고    scopus 로고
    • Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation
    • Tuominen S, Juvonen V, Amberla K et al. Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation. Stroke 2001; 32: 1767-74.
    • (2001) Stroke , vol.32 , pp. 1767-1774
    • Tuominen, S.1    Juvonen, V.2    Amberla, K.3
  • 36
    • 27144540074 scopus 로고    scopus 로고
    • Large cerebral artery involvement in CADASIL
    • Choi EJ, Choi CG, Kim JS: Large cerebral artery involvement in CADASIL. Neurology 2005; 65: 1322-4.
    • (2005) Neurology , vol.65 , pp. 1322-1324
    • Choi, E.J.1    Choi, C.G.2    Kim, J.S.3
  • 37
    • 0037111353 scopus 로고    scopus 로고
    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Phenotypic and mutational spectrum
    • Dichgans M: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Phenotypic and mutational spectrum. J Neurol Sci 2002; 203-204: 77-80.
    • (2002) J Neurol Sci , vol.203-204 , pp. 77-80
    • Dichgans, M.1
  • 38
    • 4344574903 scopus 로고    scopus 로고
    • The influence of genetic and cardiovascular risk factors on the CADASIL phenotype
    • Singhal S, Bevan S, Barrick T, Rich P, Markus HS.: The influence of genetic and cardiovascular risk factors on the CADASIL phenotype. Brain 2004; 127: 2031-8.
    • (2004) Brain , vol.127 , pp. 2031-2038
    • Singhal, S.1    Bevan, S.2    Barrick, T.3    Rich, P.4    Markus, H.S.5
  • 39
    • 33644676737 scopus 로고    scopus 로고
    • Systemic blood pressure profile in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    • Rufa A, Dotti MT, Franchi M et al. Systemic blood pressure profile in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Stroke 2005; 36: 2554-8.
    • (2005) Stroke , vol.36 , pp. 2554-2558
    • Rufa, A.1    Dotti, M.T.2    Franchi, M.3
  • 40
  • 41
    • 0033594430 scopus 로고    scopus 로고
    • Quantitative MRI in CADASIL: Correlation with disability and cognitive performance
    • Dichgans M, Filippi M, Bruning R et al. Quantitative MRI in CADASIL: correlation with disability and cognitive performance. Neurology 1999; 52: 1361.
    • (1999) Neurology , vol.52 , pp. 1361
    • Dichgans, M.1    Filippi, M.2    Bruning, R.3
  • 43
    • 0036144164 scopus 로고    scopus 로고
    • Cerebral microbleeds in CADASIL: A gradient-echo magnetic resonance imaging and autopsy study
    • Dichgans M, Holtmannspotter M, Herzog J, Peters N, Bergmann M, Yousry TA.: Cerebral microbleeds iA CADASIL: a gradient-echo magnetic resonance imaging and autopsy study. Stroke 2002; 33: 67-71.
    • (2002) Stroke , vol.33 , pp. 67-71
    • Dichgans, M.1    Holtmannspotter, M.2    Herzog, J.3    Peters, N.4    Bergmann, M.5    Yousry, T.A.6
  • 45
    • 0344584550 scopus 로고    scopus 로고
    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and Leukoencephalopathy: MR imaging findings at different ages -3rd-6th decades
    • van den Boom R, Lesnik Oberstein SAJ, Ferrari MD, Haan J, van Buchem MA.: Cerebral autosomal dominant arteriopathy with subcortical infarcts and Leukoencephalopathy: MR imaging findings at different ages -3rd-6th decades. Radiology 2003; 229: 683-90.
    • (2003) Radiology , vol.229 , pp. 683-690
    • van den Boom, R.1    Lesnik Oberstein, S.AJ.2    Ferrari, M.D.3    Haan, J.4    van Buchem, M.A.5
  • 46
    • 0030854861 scopus 로고    scopus 로고
    • CADASIL: Skin biopsy allows diagnosis in early stages
    • Ebke M, Dichgans M, Bergmann M et al. CADASIL: Skin biopsy allows diagnosis in early stages. Acta Neurol Scand 1997; 95: 351-7.
    • (1997) Acta Neurol Scand , vol.95 , pp. 351-357
    • Ebke, M.1    Dichgans, M.2    Bergmann, M.3
  • 47
    • 27844440793 scopus 로고    scopus 로고
    • Prevalence of Fabry disease in patients with cryptogenic stroke: A prospective study
    • Rolfs A, Böttcher T, Zschiesche M et al. Prevalence of Fabry disease in patients with cryptogenic stroke: A prospective study. The Lancet 2005; 366: 1794-6.
    • (2005) The Lancet , vol.366 , pp. 1794-1796
    • Rolfs, A.1    Böttcher, T.2    Zschiesche, M.3
  • 48
    • 0033600228 scopus 로고    scopus 로고
    • A stop-codon mutation in the BRI gene associated with familial British dementia
    • Vidal R, Frangione B, Rostagno A et al. A stop-codon mutation in the BRI gene associated with familial British dementia. Nature 1999; 399: 776-81.
    • (1999) Nature , vol.399 , pp. 776-781
    • Vidal, R.1    Frangione, B.2    Rostagno, A.3
  • 49
    • 33645498692 scopus 로고    scopus 로고
    • Role of COL4A1 in small-vessel disease and hemorrhagic stroke
    • Gould DB, Phalan FC, van Mil SE et al. Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med 2006; 354: 1489-96.
    • (2006) N Engl J Med , vol.354 , pp. 1489-1496
    • Gould, D.B.1    Phalan, F.C.2    van Mil, S.E.3
  • 50
    • 32044464115 scopus 로고    scopus 로고
    • A novel hereditary small vessel disease of the brain
    • Verreault S, Joutel A, Riant F et al. A novel hereditary small vessel disease of the brain. Ann Neurol 2006; 59: 353-7.
    • (2006) Ann Neurol , vol.59 , pp. 353-357
    • Verreault, S.1    Joutel, A.2    Riant, F.3
  • 51
    • 0037066143 scopus 로고    scopus 로고
    • Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
    • Yanagawa S, Ito N, Arima K, Ikeda Si.: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. Neurology 2002; 58: 817-20.
    • (2002) Neurology , vol.58 , pp. 817-820
    • Yanagawa, S.1    Ito, N.2    Arima, K.3    Ikeda, Si.4
  • 52
    • 0030712287 scopus 로고    scopus 로고
    • Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS)
    • Jen J, Cohen AH, Yue Q et al. Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). Neurology 1997; 49: 1322-30.
    • (1997) Neurology , vol.49 , pp. 1322-1330
    • Jen, J.1    Cohen, A.H.2    Yue, Q.3
  • 53
    • 0035841636 scopus 로고    scopus 로고
    • Cardiomyopathies: From genetics to the prospect of treatment
    • Franz WM, MuFler OJ, Katus HA: Cardiomyopathies: from genetics to the prospect of treatment. Lancet 2001; 358: 1627-37.
    • (2001) Lancet , vol.358 , pp. 1627-1637
    • Franz, W.M.1    Muller, O.J.2    Katus, H.A.3
  • 54
    • 0033530381 scopus 로고    scopus 로고
    • Long QT syndromes and torsade de pointes
    • Viskin S: Long QT syndromes and torsade de pointes. Lancet 1999; 354: 1625-33.
    • (1999) Lancet , vol.354 , pp. 1625-1633
    • Viskin, S.1
  • 55
    • 0031004845 scopus 로고    scopus 로고
    • Identification of a genetic locus for familial atrial fibrillation
    • Brugada R, Tapscott T, Czernuszewicz GZ et al. Identification of a genetic locus for familial atrial fibrillation. N Engl J Med 1997; 336: 905-11.
    • (1997) N Engl J Med , vol.336 , pp. 905-911
    • Brugada, R.1    Tapscott, T.2    Czernuszewicz, G.Z.3
  • 56
    • 0037428218 scopus 로고    scopus 로고
    • KCNQ1 Gain of function mutation in familial atrial fibrillation
    • Chen YH, Xu SJ, Bendahhou S et al. KCNQ1 Gain of function mutation in familial atrial fibrillation. Science 2003; 299: 251-4.
    • (2003) Science , vol.299 , pp. 251-254
    • Chen, Y.H.1    Xu, S.J.2    Bendahhou, S.3
  • 57
    • 6344292572 scopus 로고    scopus 로고
    • Identification of a KCNE2 gain of function mutation in patients with familial atrial fibrillation
    • Yang Y, Xia M, Jin Q et al. Identification of a KCNE2 gain of function mutation in patients with familial atrial fibrillation. Am J Hum Genet 2004; 75: 899-905.
    • (2004) Am J Hum Genet , vol.75 , pp. 899-905
    • Yang, Y.1    Xia, M.2    Jin, Q.3
  • 59
    • 0033168013 scopus 로고    scopus 로고
    • Lack of evidence of an association between Mitral-Valve Prolapse and stroke in young patients
    • Gilon D, Buonanno FS, Joffe MM et al. Lack of evidence of an association between Mitral-Valve Prolapse and stroke in young patients. N Engl J Med 1999; 341: 8-13.
    • (1999) N Engl J Med , vol.341 , pp. 8-13
    • Gilon, D.1    Buonanno, F.S.2    Joffe, M.M.3
  • 60
    • 0021929851 scopus 로고
    • Differences between nonfamilial and familial cardiac myxoma
    • Carney JA: Differences between nonfamilial and familial cardiac myxoma. Am J Surg Pathol 1985; 9: 53-5.
    • (1985) Am J Surg Pathol , vol.9 , pp. 53-55
    • Carney, J.A.1
  • 61
    • 3042752901 scopus 로고    scopus 로고
    • A case with late-onset MELAS with hallucination and delusion
    • Narita H, Odawara T, Matsumoto T et al. A case with late-onset MELAS with hallucination and delusion. No To Shinkei 2004; 56: 345-9.
    • (2004) No To Shinkei , vol.56 , pp. 345-349
    • Narita, H.1    Odawara, T.2    Matsumoto, T.3
  • 62
    • 0027280496 scopus 로고
    • Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS): Clinical, radiological, pathological, and genetic observations
    • Koo B, Becker LE, Chuang S et al. Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS): Clinical, radiological, pathological, and genetic observations. Ann Neurol 1993; 34: 25-32.
    • (1993) Ann Neurol , vol.34 , pp. 25-32
    • Koo, B.1    Becker, L.E.2    Chuang, S.3
  • 63
    • 0026681490 scopus 로고
    • MELAS: Clinical features, biochemistry, and molecular genetics
    • Ciafaloni E, Ricci E, Shanske S et al. MELAS: Clinical features, biochemistry, and molecular genetics. Ann Neurol 1992; 31: 391-8.
    • (1992) Ann Neurol , vol.31 , pp. 391-398
    • Ciafaloni, E.1    Ricci, E.2    Shanske, S.3
  • 64
    • 0026075805 scopus 로고
    • Magnetic resonance imaging shows specific abnormalities in the MELAS syndrome
    • Matthews PM, Tampieri D, Berkovic SF et al. Magnetic resonance imaging shows specific abnormalities in the MELAS syndrome. Neurology 1991; 41: 1043-6.
    • (1991) Neurology , vol.41 , pp. 1043-1046
    • Matthews, P.M.1    Tampieri, D.2    Berkovic, S.F.3
  • 65
    • 0023182889 scopus 로고
    • Computed tomography and angiography in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes); Report of 3 cases
    • Hasuo K, Tamura S, Yasumori K et al. Computed tomography and angiography in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes); report of 3 cases. Neuroradiology 1987; 29: 393-7.
    • (1987) Neuroradiology , vol.29 , pp. 393-397
    • Hasuo, K.1    Tamura, S.2    Yasumori, K.3
  • 66
    • 0024459681 scopus 로고
    • Increased accumulation of n-isopropyl-p-(123I)-iodoamphetamine in two cases with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS)
    • Morita K, Ono S, Fukunaga M et al. Increased accumulation of n-isopropyl-p-(123I)-iodoamphetamine in two cases with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). Neuroradiology 1989; 31: 358-61.
    • (1989) Neuroradiology , vol.31 , pp. 358-361
    • Morita, K.1    Ono, S.2    Fukunaga, M.3
  • 67
    • 0026653601 scopus 로고
    • Mitochondrial angiopathy in a family with MELAS
    • Forster C, Hubner G, Muller-Hocker J et al. Mitochondrial angiopathy in a family with MELAS. Neuropediatrics 1992; 23: 165-8.
    • (1992) Neuropediatrics , vol.23 , pp. 165-168
    • Forster, C.1    Hubner, G.2    Muller-Hocker, J.3
  • 69
    • 0025666322 scopus 로고
    • A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
    • Goto Yi, Nonaka I, Horai S.: A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990; 348: 651-3.
    • (1990) Nature , vol.348 , pp. 651-653
    • Goto, Yi.1    Nonaka, I.2    Horai, S.3
  • 70
    • 0030686478 scopus 로고    scopus 로고
    • The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct
    • Majamaa K, Turkka J, Karppa M, Winqvist S, Hassinen IE.: The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct. Neurology 1997; 49: 1331-4.
    • (1997) Neurology , vol.49 , pp. 1331-1334
    • Majamaa, K.1    Turkka, J.2    Karppa, M.3    Winqvist, S.4    Hassinen, I.E.5
  • 71
    • 3543029271 scopus 로고    scopus 로고
    • Mitochondrial diseases
    • diMauro S.: Mitochondrial diseases. Biochim Biophys Acta 2004; 1658: 80-8.
    • (2004) Biochim Biophys Acta , vol.1658 , pp. 80-88
    • diMauro, S.1
  • 72
    • 11144355448 scopus 로고    scopus 로고
    • Cerebral lactic acidosis correlates with neurological impairment in MELAS
    • Kaufmann P, Shungu DC, Sano MC et al. Cerebral lactic acidosis correlates with neurological impairment in MELAS. Neurology 2004; 62: 1297-302.
    • (2004) Neurology , vol.62 , pp. 1297-1302
    • Kaufmann, P.1    Shungu, D.C.2    Sano, M.C.3
  • 73
    • 33646202306 scopus 로고    scopus 로고
    • Dichloroacetate causes toxic neuropathy in MELAS: A randomized, controlled clinical trial
    • Kaufmann P, Engelstad K, Wei Y et al. Dichloroacetate causes toxic neuropathy in MELAS: A randomized, controlled clinical trial. Neurology 2006; 66: 324-30.
    • (2006) Neurology , vol.66 , pp. 324-330
    • Kaufmann, P.1    Engelstad, K.2    Wei, Y.3
  • 74
    • 13844321746 scopus 로고    scopus 로고
    • L-Arginine improves the symptoms of strokelike episodes in MELAS
    • Koga Y, Akita Y, Nishioka J et al. l-Arginine improves the symptoms of strokelike episodes in MELAS. Neurology 2005; 64: 710-2.
    • (2005) Neurology , vol.64 , pp. 710-712
    • Koga, Y.1    Akita, Y.2    Nishioka, J.3
  • 75
    • 0037158599 scopus 로고    scopus 로고
    • Paternal inheritance of mitochondrial DNA
    • Schwartz M, Vissing J: Paternal inheritance of mitochondrial DNA. N Engl J Med 2002; 347: 576-80.
    • (2002) N Engl J Med , vol.347 , pp. 576-580
    • Schwartz, M.1    Vissing, J.2
  • 77
    • 0021325486 scopus 로고
    • Neurological complications of hemoglobin SC disease
    • Fabian RH, Peters BH: Neurological complications of hemoglobin SC disease. Arch Neurol 1984; 41: 289-92.
    • (1984) Arch Neurol , vol.41 , pp. 289-292
    • Fabian, R.H.1    Peters, B.H.2
  • 78
    • 0031440087 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum lesions and cardiac complications as contributing factors for strokes in beta-thalassemia patients
    • Aessopos A, Farmakis D, Karagiorga M, Rombos I, Loucopoulos D: Pseudoxanthoma elasticum lesions and cardiac complications as contributing factors for strokes in beta-thalassemia patients. Stroke 1997; 28: 2421-4.
    • (1997) Stroke , vol.28 , pp. 2421-2424
    • Aessopos, A.1    Farmakis, D.2    Karagiorga, M.3    Rombos, I.4    Loucopoulos, D.5
  • 79
    • 0031947743 scopus 로고    scopus 로고
    • Neurology and the blood: Haematological abnormalities in ischaemic stroke
    • Markus HS, Hambley H: Neurology and the blood: haematological abnormalities in ischaemic stroke. J Neurol Neurosurg Psychiatry 1998; 64: 150-9.
    • (1998) J Neurol Neurosurg Psychiatry , vol.64 , pp. 150-159
    • Markus, H.S.1    Hambley, H.2
  • 81
    • 0028226658 scopus 로고
    • Familial Sneddon's syndrome: Clinical, hematologic, and radiographic findings in two brothers
    • Pettee AD, Wasserman BA, Adams NL et al. Familial Sneddon's syndrome: clinical, hematologic, and radiographic findings in two brothers. Neurology 1994; 44: 399-405.
    • (1994) Neurology , vol.44 , pp. 399-405
    • Pettee, A.D.1    Wasserman, B.A.2    Adams, N.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.