메뉴 건너뛰기




Volumn 63, Issue 2, 2003, Pages 83-101

Genetic epidemiology of amyotrophic lateral sclerosis

Author keywords

Amyotrophic lateral sclerosis; Epidemiology; Genetics

Indexed keywords

AGE; AMYOTROPHIC LATERAL SCLEROSIS; BRAIN NERVE CELL; CLASSIFICATION; DEMENTIA; DISEASE COURSE; ENVIRONMENTAL FACTOR; FAMILIAL DISEASE; FATALITY; GENE IDENTIFICATION; GENE INTERACTION; GENE LOCUS; GENE MUTATION; GENETIC EPIDEMIOLOGY; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; HUMAN; MOTONEURON; NERVE DEGENERATION; ONSET AGE; PENETRANCE; PRIORITY JOURNAL; REVIEW; RISK FACTOR; SPINAL CORD NERVE CELL; TAUOPATHY;

EID: 0042632880     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.0009-9163.2002.00001.x     Document Type: Review
Times cited : (132)

References (272)
  • 1
    • 0028142392 scopus 로고
    • El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis
    • Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial 'Clinical limits of amyotrophic lateral sclerosis' workshop contributors
    • Brooks BR. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial 'Clinical limits of amyotrophic lateral sclerosis' workshop contributors. J Neurol Sci 1994: 124: 96-107.
    • (1994) J. Neurol. Sci. , vol.124 , pp. 96-107
    • Brooks, B.R.1
  • 2
    • 0032750518 scopus 로고    scopus 로고
    • An algorithm for ALS diagnosis and management
    • Swash M. An algorithm for ALS diagnosis and management. Neurology 1999: 53 (Suppl. 5): S58-S62.
    • (1999) Neurology , vol.53 , Issue.SUPPL. 5
    • Swash, M.1
  • 3
    • 0027465098 scopus 로고
    • Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: A mouse model of amyotrophic lateral sclerosis
    • Cote F, Collard JF, Julien JP. Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: a mouse model of amyotrophic lateral sclerosis. Cell 1993: 73: 35-46.
    • (1993) Cell , vol.73 , pp. 35-46
    • Cote, F.1    Collard, J.F.2    Julien, J.P.3
  • 4
    • 0029658019 scopus 로고    scopus 로고
    • Neuromuscular function impairment is not caused by motor neuron loss in FALS mice: An electromyographic study
    • Kennel PF, Finiels F, Revah F, Mallet J. Neuromuscular function impairment is not caused by motor neuron loss in FALS mice: an electromyographic study. Neuroreport 1996: 7: 1427-1431.
    • (1996) Neuroreport , vol.7 , pp. 1427-1431
    • Kennel, P.F.1    Finiels, F.2    Revah, F.3    Mallet, J.4
  • 5
    • 0026728432 scopus 로고
    • Rising mortality due to Parkinson's disease and amyotrophic lateral sclerosis: A manifestation of the competitive nature of human mortality
    • Riggs JE, Schochet SS. Rising mortality due to Parkinson's disease and amyotrophic lateral sclerosis: a manifestation of the competitive nature of human mortality. J Clin Epidemiol 1992: 45: 1007-1012.
    • (1992) J. Clin. Epidemiol. , vol.45 , pp. 1007-1012
    • Riggs, J.E.1    Schochet, S.S.2
  • 6
    • 0028287998 scopus 로고
    • Rising amyotrophic lateral sclerosis mortality in France 1968-90: Increased life expectancy and inter-disease competition as an explanation
    • Neilson S, Robinson I, Alperovitch A. Rising amyotrophic lateral sclerosis mortality in France 1968-90: increased life expectancy and inter-disease competition as an explanation. J Neurol 1994: 241: 448-455.
    • (1994) J. Neurol. , vol.241 , pp. 448-455
    • Neilson, S.1    Robinson, I.2    Alperovitch, A.3
  • 7
    • 0027420334 scopus 로고
    • Projected neurodegenerative disease mortality in the United States, 1990-2040
    • Lilienfeld DE, Perl DP. Projected neurodegenerative disease mortality in the United States, 1990-2040. Neuroepidemiology 1993: 12: 219-228.
    • (1993) Neuroepidemiology , vol.12 , pp. 219-228
    • Lilienfeld, D.E.1    Perl, D.P.2
  • 8
    • 0024383998 scopus 로고
    • Increasing trend of ALS in France and elsewhere: Are the changes real?
    • Durrleman S, Alperovitch A. Increasing trend of ALS in France and elsewhere: are the changes real? Neurology 1989: 39: 768-773.
    • (1989) Neurology , vol.39 , pp. 768-773
    • Durrleman, S.1    Alperovitch, A.2
  • 9
    • 0025869916 scopus 로고
    • Incidence and prevalence of amyotrophic lateral sclerosis in Harris County, Texas, 1985-88
    • Annegers JF, Appel S, Lee JR, Perkins P. Incidence and prevalence of amyotrophic lateral sclerosis in Harris County, Texas, 1985-88. Arch Neurol 1991: 48: 589-593.
    • (1991) Arch. Neurol. , vol.48 , pp. 589-593
    • Annegers, J.F.1    Appel, S.2    Lee, J.R.3    Perkins, P.4
  • 10
    • 0033017569 scopus 로고    scopus 로고
    • Incidence and prevalence of ALS in Ireland, 1995-97: A population- based study
    • Traynor BJ, Codd MB, Corr B, Forde C, Frost E, Hardiman O. Incidence and prevalence of ALS in Ireland, 1995-97: a population- based study. Neurology 1999: 52: 504-509.
    • (1999) Neurology , vol.52 , pp. 504-509
    • Traynor, B.J.1    Codd, M.B.2    Corr, B.3    Forde, C.4    Frost, E.5    Hardiman, O.6
  • 11
    • 0015759406 scopus 로고
    • Epidemiology of motor-neuron diseases
    • Bobowick AR, Brody JA. Epidemiology of motor-neuron diseases. N Engl J Med 1973: 288: 1047-1055.
    • (1973) N. Engl. J. Med. , vol.288 , pp. 1047-1055
    • Bobowick, A.R.1    Brody, J.A.2
  • 12
    • 0029037348 scopus 로고
    • Natural history of amyotrophic lateral sclerosis in a database population. Validation of a scoring system and a model for survival prediction
    • Haverkamp LJ, Appel V, Appel SH. Natural history of amyotrophic lateral sclerosis in a database population. Validation of a scoring system and a model for survival prediction. Brain 1995: 118: 707-719.
    • (1995) Brain , vol.118 , pp. 707-719
    • Haverkamp, L.J.1    Appel, V.2    Appel, S.H.3
  • 13
    • 0000181477 scopus 로고    scopus 로고
    • Gender and presentation age in ALS patient care database
    • Cashman N, White C, Anderson F. Gender and presentation age in ALS patient care database. Neurology 1999: 52: A166.
    • (1999) Neurology , vol.52
    • Cashman, N.1    White, C.2    Anderson, F.3
  • 14
    • 0029839053 scopus 로고    scopus 로고
    • Incidence of amyotrophic lateral sclerosis in three counties in western Washington state
    • McGuire V, Longstreth WT Jr, Koepsell TD, van Belle G. Incidence of amyotrophic lateral sclerosis in three counties in western Washington state. Neurology 1996: 47: 571-573.
    • (1996) Neurology , vol.47 , pp. 571-573
    • McGuire, V.1    Longstreth W.T., Jr.2    Koepsell, T.D.3    van Belle, G.4
  • 15
    • 0027281238 scopus 로고
    • Motor neuron disease and multiple sclerosis among immigrants to England from the Indian subcontinent, the Caribbean, and east and west Africa
    • Elian M, Dean G. Motor neuron disease and multiple sclerosis among immigrants to England from the Indian subcontinent, the Caribbean, and east and west Africa. J Neurol Neurosurg Psychiatry 1993: 56: 454-457.
    • (1993) J. Neurol. Neurosurg. Psychiatry , vol.56 , pp. 454-457
    • Elian, M.1    Dean, G.2
  • 16
    • 0021344376 scopus 로고
    • Changes in the incidence of amyotrophic lateral sclerosis in Israel
    • Kahana E, Zilber N. Changes in the incidence of amyotrophic lateral sclerosis in Israel. Arch Neurol 1984: 41: 157-160.
    • (1984) Arch. Neurol. , vol.41 , pp. 157-160
    • Kahana, E.1    Zilber, N.2
  • 17
    • 0017694956 scopus 로고
    • Amyotrophic lateral sclerosis in Finland. I. An epidemiologic study
    • Jokelainen M. Amyotrophic lateral sclerosis in Finland. I. An epidemiologic study. Acta Neurol Scand 1977: 56: 185-193.
    • (1977) Acta Neurol. Scand. , vol.56 , pp. 185-193
    • Jokelainen, M.1
  • 18
    • 0025843663 scopus 로고
    • Epidemiology of amyotrophic lateral sclerosis in Hordaland county, western Norway
    • Tysnes OB, Vollset SE, Aarli JA. Epidemiology of amyotrophic lateral sclerosis in Hordaland county, western Norway. Acta Neurol Scand 1991: 83: 280-285.
    • (1991) Acta Neurol. Scand. , vol.83 , pp. 280-285
    • Tysnes, O.B.1    Vollset, S.E.2    Aarli, J.A.3
  • 19
    • 0030007725 scopus 로고    scopus 로고
    • An epidemic-like cluster of motor neuron disease in a Swedish county during the period 1973-84
    • Gunnarsson LG, Lygner PE, Veiga-Cabo J, de Pedro-Cuesta J. An epidemic-like cluster of motor neuron disease in a Swedish county during the period 1973-84. Neuroepidemiology 1996: 15: 142-152.
    • (1996) Neuroepidemiology , vol.15 , pp. 142-152
    • Gunnarsson, L.G.1    Lygner, P.E.2    Veiga-Cabo, J.3    de Pedro-Cuesta, J.4
  • 20
    • 77049174895 scopus 로고
    • Epidemiologic investigations of amyotrophic lateral sclerosis. 1. Preliminary report on geographical distribution, with special reference to the Mariana Islands, including ethnical and pathological observations
    • Kurland LTMD. Epidemiologic investigations of amyotrophic lateral sclerosis. 1. Preliminary report on geographical distribution, with special reference to the Mariana Islands, including ethnical and pathological observations. Neurology 1954: 4: 438-448.
    • (1954) Neurology , vol.4 , pp. 438-448
    • Kurland, L.T.M.D.1
  • 21
    • 0032834820 scopus 로고    scopus 로고
    • Neuropathology of parkinsonism-dementia complex and amyotrophic lateral sclerosis of Guam: An update
    • Oyanagi K, Wada M. Neuropathology of parkinsonism-dementia complex and amyotrophic lateral sclerosis of Guam: an update. J Neurol 1999: 246: 1119-27.
    • (1999) J. Neurol. , vol.246 , pp. 1119-1127
    • Oyanagi, K.1    Wada, M.2
  • 22
    • 0030863469 scopus 로고    scopus 로고
    • Familial nature and continuing morbidity of the amyotrophic lateral sclerosis-parkinsonism dementia complex of Guam
    • McGeer PL, Schwab C, McGeer EG, Haddock RL, Steele JC. Familial nature and continuing morbidity of the amyotrophic lateral sclerosis-parkinsonism dementia complex of Guam. Neurology 1997: 49: 400-409.
    • (1997) Neurology , vol.49 , pp. 400-409
    • McGeer, P.L.1    Schwab, C.2    McGeer, E.G.3    Haddock, R.L.4    Steele, J.C.5
  • 23
    • 0032741628 scopus 로고    scopus 로고
    • Neuroepidemiologic research initiatives on Guam: Past and present
    • Wiederholt WC. Neuroepidemiologic research initiatives on Guam: past and present. Neuroepidemiology 1999: 18: 279-291.
    • (1999) Neuroepidemiology , vol.18 , pp. 279-291
    • Wiederholt, W.C.1
  • 24
    • 0029793774 scopus 로고    scopus 로고
    • Motor neuron disease on Guam: Geographic and familial occurrence, 1956-85
    • Zhang ZX, Anderson DW, Mantel N, Roman GC. Motor neuron disease on Guam: geographic and familial occurrence, 1956-85. Acta Neurol Scand 1996: 94: 51-59.
    • (1996) Acta Neurol. Scand. , vol.94 , pp. 51-59
    • Zhang, Z.X.1    Anderson, D.W.2    Mantel, N.3    Roman, G.C.4
  • 26
    • 0042191927 scopus 로고
    • Epidemiological and geomedical studies on amyotrophic lateral sclerosis
    • Handa YYM, Yata Y. Epidemiological and geomedical studies on amyotrophic lateral sclerosis. Dis Nerv Syst 1963: 24: 155-159.
    • (1963) Dis. Nerv. Syst. , vol.24 , pp. 155-159
    • Handa, Y.Y.M.1    Yata, Y.2
  • 27
    • 0020078435 scopus 로고
    • Amyotrophic lateral sclerosis and parkinsonian syndromes in high incidence among the Auyu and Jakai people of West New Guinea
    • Gajdusek DC, Salazar AM. Amyotrophic lateral sclerosis and parkinsonian syndromes in high incidence among the Auyu and Jakai people of West New Guinea. Neurology 1982: 32: 107-126.
    • (1982) Neurology , vol.32 , pp. 107-126
    • Gajdusek, D.C.1    Salazar, A.M.2
  • 29
    • 0029817869 scopus 로고    scopus 로고
    • ApoE and CYP2D6 polymorphism with and without parkinsonism-dementia complex in the people of Chamorro, Guam
    • Chen X, Xia Y, Gresham LS et al. ApoE and CYP2D6 polymorphism with and without parkinsonism-dementia complex in the people of Chamorro, Guam. Neurology 1996: 47: 779-784.
    • (1996) Neurology , vol.47 , pp. 779-784
    • Chen, X.1    Xia, Y.2    Gresham, L.S.3
  • 30
    • 0019991699 scopus 로고
    • A cluster of amyotrophic lateral sclerosis
    • Melmed C, Krieger C. A cluster of amyotrophic lateral sclerosis. Arch Neurol 1982: 39: 595-596.
    • (1982) Arch. Neurol. , vol.39 , pp. 595-596
    • Melmed, C.1    Krieger, C.2
  • 31
    • 0023389858 scopus 로고
    • Three cases of amyotrophic lateral sclerosis in a common occupational environment
    • Hyser CL, Kissel JT, Mendell JR. Three cases of amyotrophic lateral sclerosis in a common occupational environment. J Neurol 1987: 234: 443-444.
    • (1987) J. Neurol. , vol.234 , pp. 443-444
    • Hyser, C.L.1    Kissel, J.T.2    Mendell, J.R.3
  • 32
    • 0015949774 scopus 로고
    • Clustering of amyotrophic lateral sclerosis
    • (Letter)
    • Hochberg FH, Bryan JA, Whelan MA. Clustering of amyotrophic lateral sclerosis (Letter). Lancet 1974: 1: 34.
    • (1974) Lancet , vol.1 , pp. 34
    • Hochberg, F.H.1    Bryan, J.A.2    Whelan, M.A.3
  • 33
    • 0017626145 scopus 로고
    • Amyotrophic lateral sclerosis in a high selenium environment
    • Kilness AW, Hichherg FH. Amyotrophic lateral sclerosis in a high selenium environment. JAMA 1977: 237: 2843-2844.
    • (1977) JAMA , vol.237 , pp. 2843-2844
    • Kilness, A.W.1    Hichherg, F.H.2
  • 34
    • 0027946294 scopus 로고
    • Development of central nervous system pathology in a murine transgenic model of human amyotrophic lateral sclerosis
    • Dal Canto MC, Gurney ME. Development of central nervous system pathology in a murine transgenic model of human amyotrophic lateral sclerosis. Am J Pathol 1994: 145: 1271-1279.
    • (1994) Am. J. Pathol. , vol.145 , pp. 1271-1279
    • Dal Canto, M.C.1    Gurney, M.E.2
  • 35
    • 0019047930 scopus 로고
    • Clustering of amyotrophic lateral sclerosis
    • Sanders M. Clustering of amyotrophic lateral sclerosis. JAMA 1980: 244: 435.
    • (1980) JAMA , vol.244 , pp. 435
    • Sanders, M.1
  • 36
    • 0025022757 scopus 로고
    • Amyotrophic lateral sclerosis. A case-control study following detection of a cluster in a small Wisconsin community
    • Sienko DG, Davis JP, Taylor JA, Brooks BR. Amyotrophic lateral sclerosis. A case-control study following detection of a cluster in a small Wisconsin community. Arch Neurol 1990: 47: 38-41.
    • (1990) Arch. Neurol. , vol.47 , pp. 38-41
    • Sienko, D.G.1    Davis, J.P.2    Taylor, J.A.3    Brooks, B.R.4
  • 37
    • 0024323337 scopus 로고
    • Evidence for clustering of amyotrophic lateral sclerosis in Wisconsin
    • Taylor JA, Davis JP. Evidence for clustering of amyotrophic lateral sclerosis in Wisconsin. J Clin Epidemiol 1989: 42: 569-575.
    • (1989) J. Clin. Epidemiol. , vol.42 , pp. 569-575
    • Taylor, J.A.1    Davis, J.P.2
  • 38
    • 0016690353 scopus 로고
    • Amyotrophic lateral sclerosis and parkinsonism-dementia on Guam, 1945-1972. II. Familial and genetic studies
    • Reed DM, Torres JM, Brody JA. Amyotrophic lateral sclerosis and parkinsonism-dementia on Guam, 1945-1972. II. Familial and genetic studies. Am J Epidemiol 1975: 101: 302-310.
    • (1975) Am. J. Epidemiol. , vol.101 , pp. 302-310
    • Reed, D.M.1    Torres, J.M.2    Brody, J.A.3
  • 43
    • 0027464394 scopus 로고
    • Potential role of an additive genetic component in the cause of amyotrophic lateral sclerosis and parkinsonism-dementia in the western Pacific
    • Bailey-Wilson JE, Plato CC, Elston RC, Garruto RM. Potential role of an additive genetic component in the cause of amyotrophic lateral sclerosis and parkinsonism-dementia in the western Pacific. Am J Med Genet 1993: 45: 68-76.
    • (1993) Am. J. Med. Genet. , vol.45 , pp. 68-76
    • Bailey-Wilson, J.E.1    Plato, C.C.2    Elston, R.C.3    Garruto, R.M.4
  • 44
    • 0029115427 scopus 로고
    • Guamanian neurodegenerative disease: Investigation of the calcium metabolism/heavy metal hypothesis
    • Ahlskog JE, Waring SC, Kurland LT et al. Guamanian neurodegenerative disease: investigation of the calcium metabolism/heavy metal hypothesis. Neurology 1995: 45: 1340-1344.
    • (1995) Neurology , vol.45 , pp. 1340-1344
    • Ahlskog, J.E.1    Waring, S.C.2    Kurland, L.T.3
  • 45
    • 0038214515 scopus 로고    scopus 로고
    • The Island of the Colour-Blind and Cycad Island
    • London: Picador
    • Sacks O. The Island of the Colour-Blind and Cycad Island. London: Picador, 1996.
    • (1996)
    • Sacks, O.1
  • 46
    • 0026720427 scopus 로고
    • Content of the neurotoxins cycasin (methylazoxymethanol beta-D-glucoside) and BMAA (beta-N-methylamino-1-alanine) in cycad flour prepared by Guam Chamorros
    • Kisby GE, Ellison M, Spencer PS. Content of the neurotoxins cycasin (methylazoxymethanol beta-D-glucoside) and BMAA (beta-N-methylamino-1-alanine) in cycad flour prepared by Guam Chamorros. Neurology 1992: 42: 1336-1340.
    • (1992) Neurology , vol.42 , pp. 1336-1340
    • Kisby, G.E.1    Ellison, M.2    Spencer, P.S.3
  • 47
    • 0026160504 scopus 로고
    • Slow toxins, biologic markers, and long-latency neurodegenerative disease in the western Pacific region
    • Spencer PS, Kisby GE, Ludolph AC. Slow toxins, biologic markers, and long-latency neurodegenerative disease in the western Pacific region. Neurology 1991: 41: 62-66.
    • (1991) Neurology , vol.41 , pp. 62-66
    • Spencer, P.S.1    Kisby, G.E.2    Ludolph, A.C.3
  • 48
    • 0026660922 scopus 로고
    • Beta-Methylamino-L-Alanine (BMAA) and amyotrophic lateral sclerosis- parkinsonism dementia of the western Pacific
    • Duncan MW. Beta-Methylamino-L-Alanine (BMAA) and amyotrophic lateral sclerosis- parkinsonism dementia of the western Pacific. Ann N Y Acad Sci 1992: 648: 161-168.
    • (1992) Ann. N. Y. Acad. Sci. , vol.648 , pp. 161-168
    • Duncan, M.W.1
  • 49
    • 0032966179 scopus 로고    scopus 로고
    • The Guam cycad toxin methylazoxymethanol damages neuronal DNA and modulates tau mRNA expression and excitotoxicity
    • Esclaire F, Kisby G, Spencer P, Milne J, Lesort M, Hugon J. The Guam cycad toxin methylazoxymethanol damages neuronal DNA and modulates tau mRNA expression and excitotoxicity. Exp Neurol 1999: 155: 11-21.
    • (1999) Exp. Neurol. , vol.155 , pp. 11-21
    • Esclaire, F.1    Kisby, G.2    Spencer, P.3    Milne, J.4    Lesort, M.5    Hugon, J.6
  • 51
    • 0034015718 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis: A role for enteroviruses?
    • Giraud P, Kopp N, Lina B, Chazot G. Amyotrophic lateral sclerosis: a role for enteroviruses? Rev Neurol (Paris) 2000: 156: 352-356.
    • (2000) Rev. Neurol. (Paris) , vol.156 , pp. 352-356
    • Giraud, P.1    Kopp, N.2    Lina, B.3    Chazot, G.4
  • 52
    • 0033971937 scopus 로고    scopus 로고
    • Viral hide-and-seek in sporadic ALS: A new challenge
    • Karpati G, Dalakas MC. Viral hide-and-seek in sporadic ALS: a new challenge. Neurology 2000: 54: 6-7.
    • (2000) Neurology , vol.54 , pp. 6-7
    • Karpati, G.1    Dalakas, M.C.2
  • 53
    • 0033981056 scopus 로고    scopus 로고
    • Detection and cellular localization of enterovirus RNA sequences in spinal cord of patients with ALS
    • Berger MM, Kopp N, Vital C, Redl B, Aymard M, Lina B. Detection and cellular localization of enterovirus RNA sequences in spinal cord of patients with ALS. Neurology 2000: 54: 20-25.
    • (2000) Neurology , vol.54 , pp. 20-25
    • Berger, M.M.1    Kopp, N.2    Vital, C.3    Redl, B.4    Aymard, M.5    Lina, B.6
  • 54
    • 0028176068 scopus 로고
    • Sequences specific for enterovirus detected in spinal cord from patients with motor neurone disease
    • Woodall CJ, Riding MH, Graham DI, Clements GB. Sequences specific for enterovirus detected in spinal cord from patients with motor neurone disease. BMJ 1994: 308: 1541-1543.
    • (1994) BMJ , vol.308 , pp. 1541-1543
    • Woodall, C.J.1    Riding, M.H.2    Graham, D.I.3    Clements, G.B.4
  • 55
    • 8944256866 scopus 로고    scopus 로고
    • Enterovirus infection of the central nervous system of humans: Lack of association with chronic neurological disease
    • Muir P, Nicholson F, Spencer GTI et al. Enterovirus infection of the central nervous system of humans: lack of association with chronic neurological disease. J Gen Virol 1996: 77: 1469-1476.
    • (1996) J. Gen. Virol. , vol.77 , pp. 1469-1476
    • Muir, P.1    Nicholson, F.2    Spencer, G.T.I.3
  • 56
    • 0028811503 scopus 로고
    • Search for persistent infection with poliovirus or other enteroviruses in amyotrophic lateral sclerosis-motor neurone disease
    • Swanson NR, Fox SA, Mastaglia FL. Search for persistent infection with poliovirus or other enteroviruses in amyotrophic lateral sclerosis-motor neurone disease. Neuromuscul Disord 1995: 5: 457-465.
    • (1995) Neuromuscul. Disord. , vol.5 , pp. 457-465
    • Swanson, N.R.1    Fox, S.A.2    Mastaglia, F.L.3
  • 57
    • 0035132168 scopus 로고    scopus 로고
    • Absence of echovirus sequences in brain and spinal cord of amyotrophic lateral sclerosis patients
    • Walker MP Schlaberg R, Hays AP, Bowser R, Lipkin WI. Absence of echovirus sequences in brain and spinal cord of amyotrophic lateral sclerosis patients. Ann Neurol 2001: 49: 249-253.
    • (2001) Ann. Neurol. , vol.49 , pp. 249-253
    • Walker, M.P.1    Schlaberg, R.2    Hays, A.P.3    Bowser, R.4    Lipkin, W.I.5
  • 58
    • 0036156999 scopus 로고    scopus 로고
    • Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis
    • Corcia P, Mayeux-Portas V, Khoris J et al. Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis. Ann Neurol 2002: 51: 243-246.
    • (2002) Ann. Neurol. , vol.51 , pp. 243-246
    • Corcia, P.1    Mayeux-Portas, V.2    Khoris, J.3
  • 59
    • 0035957312 scopus 로고    scopus 로고
    • Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS
    • Veldink JH, van den Berg LH, Cobben JM et al. Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS. Neurology 2001: 56: 749-752.
    • (2001) Neurology , vol.56 , pp. 749-752
    • Veldink, J.H.1    van den Berg, L.H.2    Cobben, J.M.3
  • 61
    • 0030899577 scopus 로고    scopus 로고
    • The relationship of spinal muscular atrophy to motor neuron disease: Investigation of SMN and NAIP gene deletions in sporadic and familial ALS
    • Orrell RW, Habgood JJ, de Belleroche JS, Lane RJ. The relationship of spinal muscular atrophy to motor neuron disease: investigation of SMN and NAIP gene deletions in sporadic and familial ALS. J Neurol Sci 1997: 145: 55-61.
    • (1997) J. Neurol. Sci. , vol.145 , pp. 55-61
    • Orrell, R.W.1    Habgood, J.J.2    de Belleroche, J.S.3    Lane, R.J.4
  • 62
    • 0031958077 scopus 로고    scopus 로고
    • Association between centromeric deletions of the SMN gene and sporadic adult-onset lower motor neuron disease
    • Moulard B, Salachas F, Chassande B et al. Association between centromeric deletions of the SMN gene and sporadic adult-onset lower motor neuron disease. Ann Neurol 1998: 43: 640-644.
    • (1998) Ann. Neurol. , vol.43 , pp. 640-644
    • Moulard, B.1    Salachas, F.2    Chassande, B.3
  • 63
    • 0029943383 scopus 로고    scopus 로고
    • Analysis of chromosome 5q13 genes in amyotrophic lateral sclerosis: Homozygous NAIP deletion in a sporadic case
    • Jackson M, Morrison KE, Al-Chalabi A, Bakker M, Leigh PN. Analysis of chromosome 5q13 genes in amyotrophic lateral sclerosis: homozygous NAIP deletion in a sporadic case. Ann Neurol 1996: 39: 796-800.
    • (1996) Ann. Neurol. , vol.39 , pp. 796-800
    • Jackson, M.1    Morrison, K.E.2    Al-Chalabi, A.3    Bakker, M.4    Leigh, P.N.5
  • 64
    • 0027202177 scopus 로고
    • Androgen receptor gene polymorphisms in amyotrophic lateral sclerosis
    • Garofalo O, Figlewicz DA, Leigh PN et al. Androgen receptor gene polymorphisms in amyotrophic lateral sclerosis. Neuromuscul Disord 1993: 3: 195-199.
    • (1993) Neuromuscul. Disord. , vol.3 , pp. 195-199
    • Garofalo, O.1    Figlewicz, D.A.2    Leigh, P.N.3
  • 65
    • 0030798569 scopus 로고    scopus 로고
    • Spinobulbar muscular atrophy can mimic ALS. The importance of genetic testing in male patients with atypical ALS
    • Parboosingh JS, Figlewicz DA, Krizus A et al. Spinobulbar muscular atrophy can mimic ALS. the importance of genetic testing in male patients with atypical ALS. Neurology 1997: 49: 568-572.
    • (1997) Neurology , vol.49 , pp. 568-572
    • Parboosingh, J.S.1    Figlewicz, D.A.2    Krizus, A.3
  • 66
    • 0031057003 scopus 로고    scopus 로고
    • Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
    • Cudkowicz ME, McKenna-Yasek D, Sapp PE, Chin W, Geller B et al. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol 1997: 41: 210-221.
    • (1997) Ann. Neurol. , vol.41 , pp. 210-221
    • Cudkowicz, M.E.1    McKenna-Yasek, D.2    Sapp, P.E.3    Chin, W.4    Geller, B.5
  • 67
    • 0028823914 scopus 로고
    • Familial amyotrophic lateral scleorosis/motor neurone disease (FALS): A review of current developments
    • de Belleroche J, Orrell R, King A. Familial amyotrophic lateral scleorosis/motor neurone disease (FALS): a review of current developments. J Med Genet 1995: 32: 841-847.
    • (1995) J. Med. Genet. , vol.32 , pp. 841-847
    • de Belleroche, J.1    Orrell, R.2    King, A.3
  • 68
    • 0023221049 scopus 로고
    • Phenotypic and genotypic heterogeneity of dominantly inherited amyotrophic lateral sclerosis
    • Chio A, Brignolio F, Meineri P, Schiffer D. Phenotypic and genotypic heterogeneity of dominantly inherited amyotrophic lateral sclerosis. Acta Neurol Scand 1987: 75: 277-282.
    • (1987) Acta Neurol. Scand. , vol.75 , pp. 277-282
    • Chio, A.1    Brignolio, F.2    Meineri, P.3    Schiffer, D.4
  • 69
    • 0018836252 scopus 로고
    • Hereditary amyotrophic lateral sclerosis transmitted for five generations
    • Husquinet H, Franck G. Hereditary amyotrophic lateral sclerosis transmitted for five generations. Clin Genet 1980: 18: 109-115.
    • (1980) Clin. Genet. , vol.18 , pp. 109-115
    • Husquinet, H.1    Franck, G.2
  • 70
    • 0028598738 scopus 로고
    • Sporadic motoneuron disease due to familial SOD1 mutation with low penetrance
    • Suthers G, Laing N, Wilton S, Dorosz S, Waddy H. Sporadic motoneuron disease due to familial SOD1 mutation with low penetrance. Lancet 1994: 344: 1773.
    • (1994) Lancet , vol.344 , pp. 1773
    • Suthers, G.1    Laing, N.2    Wilton, S.3    Dorosz, S.4    Waddy, H.5
  • 71
    • 0031814006 scopus 로고    scopus 로고
    • Limited corticospinal tract involvement in amyotrophic lateral sclerosis subjects with the A4V mutation in the copper/zinc superoxide dismutase gene
    • Cudkowicz ME, McKenna-Yasek D, Chen C, Hedley-Whyte ET, Brown RH Jr. Limited corticospinal tract involvement in amyotrophic lateral sclerosis subjects with the A4V mutation in the copper/zinc superoxide dismutase gene. Ann Neurol 1998: 43: 703-710.
    • (1998) Ann. Neurol. , vol.43 , pp. 703-710
    • Cudkowicz, M.E.1    McKenna-Yasek, D.2    Chen, C.3    Hedley-Whyte, E.T.4    Brown R.H., Jr.5
  • 72
    • 12044249765 scopus 로고
    • Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity
    • Siddique T, Figlewicz DA, Pericak-Vance MA et al. Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. N Engl J Med 1991: 324: 1381-1384.
    • (1991) N. Engl. J. Med. , vol.324 , pp. 1381-1384
    • Siddique, T.1    Figlewicz, D.A.2    Pericak-Vance, M.A.3
  • 73
    • 0027401203 scopus 로고
    • Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
    • Rosen DR, Siddique T, Patterson D et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993: 362: 59-62.
    • (1993) Nature , vol.362 , pp. 59-62
    • Rosen, D.R.1    Siddique, T.2    Patterson, D.3
  • 74
    • 0033989243 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis: Copper/zinc superoxide dismutase (SOD1) gene mutations
    • Orrell RW. Amyotrophic lateral sclerosis: copper/zinc superoxide dismutase (SOD1) gene mutations. Neuromuscul Disord 2000: 10: 63-68.
    • (2000) Neuromuscul. Disord. , vol.10 , pp. 63-68
    • Orrell, R.W.1
  • 75
    • 0029010496 scopus 로고
    • Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase
    • Andersen PM, Nilsson P, Ala-Hurula V et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nat Genet 1995: 10: 61-66.
    • (1995) Nat. Genet. , vol.10 , pp. 61-66
    • Andersen, P.M.1    Nilsson, P.2    Ala-Hurula, V.3
  • 76
    • 0029854883 scopus 로고    scopus 로고
    • D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis
    • Robberecht W, Aguirre T, Van den Bosch L, Tilkin P, Cassiman JJ, Matthijs G. D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis. Neurology 1996: 47: 1336-1339.
    • (1996) Neurology , vol.47 , pp. 1336-1339
    • Robberecht, W.1    Aguirre, T.2    Van den Bosch, L.3    Tilkin, P.4    Cassiman, J.J.5    Matthijs, G.6
  • 77
    • 0035136084 scopus 로고    scopus 로고
    • Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family
    • Hand CK, Mayeux-Portas V, Khoris J et al. Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family. Ann Neurol 2001: 49:267-271.
    • (2001) Ann. Neurol. , vol.49 , pp. 267-271
    • Hand, C.K.1    Mayeux-Portas, V.2    Khoris, J.3
  • 78
    • 0028918944 scopus 로고
    • Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis
    • Pramatarova A, Figlewicz DA, Krizus A et al. Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis. Am J Hum Genet 1995: 56: 592-596.
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 592-596
    • Pramatarova, A.1    Figlewicz, D.A.2    Krizus, A.3
  • 79
    • 0030945491 scopus 로고    scopus 로고
    • Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for copper-zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis
    • Orrell RW, Habgood JJ, Gardiner I et al. Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for copper-zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis. Neurology 1997: 48: 746-751.
    • (1997) Neurology , vol.48 , pp. 746-751
    • Orrell, R.W.1    Habgood, J.J.2    Gardiner, I.3
  • 80
    • 0032692608 scopus 로고    scopus 로고
    • Clinical characteristics of SOD1 gene mutations in UK families with ALS
    • Orrell RW, Habgood JJ, Malaspina A et al. Clinical characteristics of SOD1 gene mutations in UK families with ALS. J Neurol Sci 1999: 169: 56-60.
    • (1999) J. Neurol. Sci. , vol.169 , pp. 56-60
    • Orrell, R.W.1    Habgood, J.J.2    Malaspina, A.3
  • 81
    • 0030749160 scopus 로고    scopus 로고
    • Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia
    • Andersen PM, Nilsson P, Keranen ML et al. Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia. Brain 1997: 120: 1723-1737.
    • (1997) Brain , vol.120 , pp. 1723-1737
    • Andersen, P.M.1    Nilsson, P.2    Keranen, M.L.3
  • 82
    • 0028916910 scopus 로고
    • Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients
    • Jones CT, Swingler RJ, Simpson SA, Brock DJ. Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients. J Med Genet 1995: 32: 290-292.
    • (1995) J. Med. Genet. , vol.32 , pp. 290-292
    • Jones, C.T.1    Swingler, R.J.2    Simpson, S.A.3    Brock, D.J.4
  • 83
    • 0032796004 scopus 로고    scopus 로고
    • Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium
    • Aguirre T, Matthijs G, Robberecht W, Tilkin P, Cassiman JJ. Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium. Eur J Hum Genet 1999: 7: 599-602.
    • (1999) Eur. J. Hum. Genet. , vol.7 , pp. 599-602
    • Aguirre, T.1    Matthijs, G.2    Robberecht, W.3    Tilkin, P.4    Cassiman, J.J.5
  • 84
    • 0031015422 scopus 로고    scopus 로고
    • Prognosis in familial amyotrophic lateral sclerosis: Progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase
    • Juneja T, Pericak-Vance MA, Laing NG, Dave S, Siddique T. Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase. Neurology 1997: 48: 55-57.
    • (1997) Neurology , vol.48 , pp. 55-57
    • Juneja, T.1    Pericak-Vance, M.A.2    Laing, N.G.3    Dave, S.4    Siddique, T.5
  • 85
    • 9544236295 scopus 로고    scopus 로고
    • Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients
    • Andersen PM, Forsgren L, Binzer M et al. Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients. Brain 1996: 119: 1153-1172.
    • (1996) Brain , vol.119 , pp. 1153-1172
    • Andersen, P.M.1    Forsgren, L.2    Binzer, M.3
  • 86
    • 0030780350 scopus 로고    scopus 로고
    • Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: Analysis of 155 cases and identification of a novel insertion mutation
    • Jackson M, Al-Chalabi A, Enayat ZE, Chioza B, Leigh PN, Morrison KE. Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation. Ann Neurol 1997: 42: 803-807.
    • (1997) Ann. Neurol. , vol.42 , pp. 803-807
    • Jackson, M.1    Al-Chalabi, A.2    Enayat, Z.E.3    Chioza, B.4    Leigh, P.N.5    Morrison, K.E.6
  • 87
    • 0030450004 scopus 로고    scopus 로고
    • Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: Correlation between genotype and clinical features
    • Radunovic A, Leigh PN. Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features. J Neurol Neurosurg Psychiatry 1996: 61: 565-572.
    • (1996) J. Neurol. Neurosurg. Psychiatry , vol.61 , pp. 565-572
    • Radunovic, A.1    Leigh, P.N.2
  • 88
    • 0029974080 scopus 로고    scopus 로고
    • A specific superoxide dismutase mutation is on the same genetic background in sporadic and familial cases of amyotrophic lateral sclerosis
    • Hayward C, Swingler RJ, Simpson SA, Brock DJ. A specific superoxide dismutase mutation is on the same genetic background in sporadic and familial cases of amyotrophic lateral sclerosis. Am J Hum Genet 1996: 59: 1165-1167.
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 1165-1167
    • Hayward, C.1    Swingler, R.J.2    Simpson, S.A.3    Brock, D.J.4
  • 89
    • 0032692215 scopus 로고    scopus 로고
    • Motor system abnormalities in heterozygous relatives of a D90A homozygous CuZn-SOD ALS patient of Finnish extraction
    • Mezei M, Andersen PM, Stewart H, Weber M, Eisen A. Motor system abnormalities in heterozygous relatives of a D90A homozygous CuZn-SOD ALS patient of Finnish extraction. J Neurol Sci 1999: 169: 49-55.
    • (1999) J. Neurol. Sci. , vol.169 , pp. 49-55
    • Mezei, M.1    Andersen, P.M.2    Stewart, H.3    Weber, M.4    Eisen, A.5
  • 90
    • 0034463339 scopus 로고    scopus 로고
    • Coexistence of dominant and recessive familial amyotrophic lateral sclerosis with the D90A Cu,Zn superoxide dismutase mutation within the same country
    • Khoris J, Moulard B, Briolotti V et al. Coexistence of dominant and recessive familial amyotrophic lateral sclerosis with the D90A Cu,Zn superoxide dismutase mutation within the same country. Eur J Neurol 2000: 7: 207-211.
    • (2000) Eur. J. Neurol. , vol.7 , pp. 207-211
    • Khoris, J.1    Moulard, B.2    Briolotti, V.3
  • 91
    • 0030052392 scopus 로고    scopus 로고
    • A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan
    • Morita M, Aoki M, Abe K et al. A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan. Neurosci Lett 1996: 205: 79-82.
    • (1996) Neurosci. Lett. , vol.205 , pp. 79-82
    • Morita, M.1    Aoki, M.2    Abe, K.3
  • 92
    • 0029066863 scopus 로고
    • The D90A mutation results in a polymorphism of Cu,Zn superoxide dismutase that is prevalent in northern Sweden and Finland
    • Sjalander A, Beckman G, Deng HX, Iqbal Z, Tainer JA, Siddique T. The D90A mutation results in a polymorphism of Cu,Zn superoxide dismutase that is prevalent in northern Sweden and Finland. Hum Mol Genet 1995: 4: 1105-1108.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1105-1108
    • Sjalander, A.1    Beckman, G.2    Deng, H.X.3    Iqbal, Z.4    Tainer, J.A.5    Siddique, T.6
  • 93
    • 0015953398 scopus 로고
    • The incidence of rare alleles determining electrophoretic variants: Data on 43 enzyme loci in man
    • Harris H, Hopkinson DA, Robson EB. The incidence of rare alleles determining electrophoretic variants: data on 43 enzyme loci in man. Ann Hum Genet 1974: 37: 237-253.
    • (1974) Ann. Hum. Genet. , vol.37 , pp. 237-253
    • Harris, H.1    Hopkinson, D.A.2    Robson, E.B.3
  • 94
    • 7844227669 scopus 로고    scopus 로고
    • Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: Evidence for a linked protective factor
    • Al-Chalabi A, Andersen PM, Chioza B et al. Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor. Hum Mol Genet 1998: 7: 2045-2050.
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 2045-2050
    • Al-Chalabi, A.1    Andersen, P.M.2    Chioza, B.3
  • 95
    • 0032769571 scopus 로고    scopus 로고
    • Genetics of familial ALS and consequences for diagnosis
    • French ALS Research Group
    • Camu W, Khoris J, Moulard B et al. Genetics of familial ALS and consequences for diagnosis. French ALS Research Group. J Neurol Sci 1999: 165: S21-S26.
    • (1999) J. Neurol. Sci. , vol.165
    • Camu, W.1    Khoris, J.2    Moulard, B.3
  • 96
    • 0029080304 scopus 로고
    • Familial amyotrophic lateral sclerosis with a point mutation of SOD-1: Intrafamilial heterogeneity of disease duration associated with neurofibrillary tangles
    • Orrell RW, King AW, Hilton DA, Campbell MJ, Lane RJ, de Belleroche JS. Familial amyotrophic lateral sclerosis with a point mutation of SOD-1: intrafamilial heterogeneity of disease duration associated with neurofibrillary tangles. J Neurol Neurosurg Psychiatry 1995: 59: 266-270.
    • (1995) J. Neurol. Neurosurg. Psychiatry , vol.59 , pp. 266-270
    • Orrell, R.W.1    King, A.W.2    Hilton, D.A.3    Campbell, M.J.4    Lane, R.J.5    de Belleroche, J.S.6
  • 97
    • 0029400840 scopus 로고
    • Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn superoxide dismutase gene
    • Ikeda M, Abe K, Aoki M et al. Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn superoxide dismutase gene. Neurology 1995: 45: 2038-2042.
    • (1995) Neurology , vol.45 , pp. 2038-2042
    • Ikeda, M.1    Abe, K.2    Aoki, M.3
  • 98
    • 0029003428 scopus 로고
    • Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis
    • Deng HX, Tainer JA, Mitsumoto H et al. Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis. Hum Mol Genet 1995: 4: 1113-1116.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1113-1116
    • Deng, H.X.1    Tainer, J.A.2    Mitsumoto, H.3
  • 99
    • 0028273306 scopus 로고
    • Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others
    • Jones CT, Swingler RJ, Brock DJ. Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others. Hum Mol Genet 1994: 3: 649-650.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 649-650
    • Jones, C.T.1    Swingler, R.J.2    Brock, D.J.3
  • 100
    • 0028343223 scopus 로고
    • A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis
    • Rosen DR, Bowling AC, Patterson D et al. A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis. Hum Mol Genet 1994: 3: 981-987.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 981-987
    • Rosen, D.R.1    Bowling, A.C.2    Patterson, D.3
  • 101
    • 0029005002 scopus 로고
    • Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn superoxide dismutase mutation
    • Aoki M, Abe K, Houi K et al. Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn superoxide dismutase mutation. Ann Neurol 1995: 37: 676-679.
    • (1995) Ann. Neurol. , vol.37 , pp. 676-679
    • Aoki, M.1    Abe, K.2    Houi, K.3
  • 102
    • 0032424925 scopus 로고    scopus 로고
    • Molecular analyses of the Cu/Zn superoxide dismutase gene in patients with familial amyotrophic lateral sclerosis (ALS) in Japan
    • Aoki M, Abe K, Itoyama Y. Molecular analyses of the Cu/Zn superoxide dismutase gene in patients with familial amyotrophic lateral sclerosis (ALS) in Japan. Cell Mol Neurobiol 1998: 18: 639-647.
    • (1998) Cell Mol. Neurobiol. , vol.18 , pp. 639-647
    • Aoki, M.1    Abe, K.2    Itoyama, Y.3
  • 103
    • 0031723557 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis associated with genetic abnormalities in the gene encoding Cu/Zn superoxide dismutase. Molecular pathology of five new cases, and comparison with previous reports and 73 sporadic cases of ALS
    • Ince PG, Tornkins J, Slade JY, Thatcher NM, Shaw PJ. Amyotrophic lateral sclerosis associated with genetic abnormalities in the gene encoding Cu/Zn superoxide dismutase. molecular pathology of five new cases, and comparison with previous reports and 73 sporadic cases of ALS. J Neuropathol Exp Neurol 1998: 57: 895-904.
    • (1998) J. Neuropathol. Exp. Neurol. , vol.57 , pp. 895-904
    • Ince, P.G.1    Tornkins, J.2    Slade, J.Y.3    Thatcher, N.M.4    Shaw, P.J.5
  • 104
    • 0032815965 scopus 로고    scopus 로고
    • Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds
    • Ratovitski T, Corson LB, Strain J et al. Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds. Hum Mol Genet 1999: 8: 1451-1460.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1451-1460
    • Ratovitski, T.1    Corson, L.B.2    Strain, J.3
  • 105
    • 15844393658 scopus 로고    scopus 로고
    • Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury
    • Reaume AG, Elliott JL, Hoffman EK et al. Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury. Nat Genet 1996: 13: 43-47.
    • (1996) Nat. Genet. , vol.13 , pp. 43-47
    • Reaume, A.G.1    Elliott, J.L.2    Hoffman, E.K.3
  • 106
    • 0025513984 scopus 로고
    • Reduced neurotoxicity in transgenic mice overexpressing human copper-zinc-superoxide dismutase
    • Chan PH, Chu L, Chen SF, Carlson EJ, Epstein CJ. Reduced neurotoxicity in transgenic mice overexpressing human copper-zinc-superoxide dismutase. Stroke 1990: 21: III80-82.
    • (1990) Stroke , vol.21
    • Chan, P.H.1    Chu, L.2    Chen, S.F.3    Carlson, E.J.4    Epstein, C.J.5
  • 107
    • 0032544674 scopus 로고    scopus 로고
    • Aggregation and motor neuron toxicity of an ALS-linked SOD1 mutant independent from wild-type SOD1
    • Bruijn LI, Houseweart MK, Kato S et al. Aggregation and motor neuron toxicity of an ALS-linked SOD1 mutant independent from wild-type SOD1. Science 1998: 281: 1851-1854.
    • (1998) Science , vol.281 , pp. 1851-1854
    • Bruijn, L.I.1    Houseweart, M.K.2    Kato, S.3
  • 108
    • 0031012304 scopus 로고    scopus 로고
    • Mutations in SOD1 associated with amyotrophic lateral sclerosis cause novel protein interactions
    • Kunst CB, Mezey E, Brownstein MJ, Patterson D. Mutations in SOD1 associated with amyotrophic lateral sclerosis cause novel protein interactions. Nat Genet 1997: 15: 91-94.
    • (1997) Nat. Genet. , vol.15 , pp. 91-94
    • Kunst, C.B.1    Mezey, E.2    Brownstein, M.J.3    Patterson, D.4
  • 109
    • 0031683605 scopus 로고    scopus 로고
    • Transgenic mice in the study of ALS. The role of neurofilaments
    • Julien JP, Couillard-Despres S, Meier J. Transgenic mice in the study of ALS. the role of neurofilaments. Brain Pathol 1998: 8: 759-769.
    • (1998) Brain Pathol. , vol.8 , pp. 759-769
    • Julien, J.P.1    Couillard-Despres, S.2    Meier, J.3
  • 110
    • 0032482976 scopus 로고    scopus 로고
    • Absence of neuro-filaments reduces the selective vulnerability of motor neurons and slows disease caused by a familial amyotrophic lateral sclerosis-linked superoxide dismutase 1 mutant
    • Williamson TL, Bruijn LI, Zhu Q et al. Absence of neuro-filaments reduces the selective vulnerability of motor neurons and slows disease caused by a familial amyotrophic lateral sclerosis-linked superoxide dismutase 1 mutant. Proc Natl Acad Sci USA 1998: 95: 9631-9636.
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 9631-9636
    • Williamson, T.L.1    Bruijn, L.I.2    Zhu, Q.3
  • 111
    • 0032483016 scopus 로고    scopus 로고
    • Protective effect of neurofilament heavy gene overexpression in motor neuron disease induced by mutant superoxide dismutase
    • Couillard-Despres S, Zhu Q, Wong PC, Price DL, Cleveland DW, Julien JP. Protective effect of neurofilament heavy gene overexpression in motor neuron disease induced by mutant superoxide dismutase. Proc Natl Acad Sci USA 1998: 95: 9626-9630.
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 9626-9630
    • Couillard-Despres, S.1    Zhu, Q.2    Wong, P.C.3    Price, D.L.4    Cleveland, D.W.5    Julien, J.P.6
  • 112
    • 0033366461 scopus 로고    scopus 로고
    • SOD1 mutants linked to amyotrophic lateral sclerosis selectively inactivate a glial glutamate transporter
    • Trotti D, Rolfs A, Danbolt NC, Brown RH Jr, Hediger MA. SOD1 mutants linked to amyotrophic lateral sclerosis selectively inactivate a glial glutamate transporter. Nat Neurosci 1999: 2: 427-33.
    • (1999) Nat. Neurosci. , vol.2 , pp. 427-433
    • Trotti, D.1    Rolfs, A.2    Danbolt, N.C.3    Brown R.H., Jr.4    Hediger, M.A.5
  • 113
    • 0032731637 scopus 로고    scopus 로고
    • ALS-linked Cu/Zn-SOD mutation increases vulnerability of motor neurons to excitotoxicity by a mechanism involving increased oxidative stress and perturbed calcium homeostasis
    • Kruman II, Pedersen WA, Springer JE, Mattson MP. ALS-linked Cu/Zn-SOD mutation increases vulnerability of motor neurons to excitotoxicity by a mechanism involving increased oxidative stress and perturbed calcium homeostasis. Exp Neurol 1999: 160: 28-39.
    • (1999) Exp. Neurol. , vol.160 , pp. 28-39
    • Kruman, I.I.1    Pedersen, W.A.2    Springer, J.E.3    Mattson, M.P.4
  • 114
    • 0032402093 scopus 로고    scopus 로고
    • Glutamate potentiates the toxicity of mutant Cu/Zn-superoxide dismutase in motor neurons by postsynaptic calcium-dependent mechanisms
    • Roy J, Minotti S, Dong L, Figlewicz DA, Durham HD. Glutamate potentiates the toxicity of mutant Cu/Zn-superoxide dismutase in motor neurons by postsynaptic calcium-dependent mechanisms. J Neurosci 1998: 18: 9673-9684.
    • (1998) J. Neurosci. , vol.18 , pp. 9673-9684
    • Roy, J.1    Minotti, S.2    Dong, L.3    Figlewicz, D.A.4    Durham, H.D.5
  • 115
    • 0034821922 scopus 로고    scopus 로고
    • CuZn superoxide dismutase (SOD1) accumulates in vacuolated mitochondria in transgenic mice expressing amyotrophic lateral sclerosis-linked SOD1 mutations
    • Jaarsma D, Rognoni F, van Duijn W, Verspaget HW, Haasdijk ED, Holstege JC. CuZn superoxide dismutase (SOD1) accumulates in vacuolated mitochondria in transgenic mice expressing amyotrophic lateral sclerosis-linked SOD1 mutations. Acta Neuropathol (Berl) 2001: 102: 293-305.
    • (2001) Acta Neuropathol. (Berl) , vol.102 , pp. 293-305
    • Jaarsma, D.1    Rognoni, F.2    van Duijn, W.3    Verspaget, H.W.4    Haasdijk, E.D.5    Holstege, J.C.6
  • 116
    • 0034763797 scopus 로고    scopus 로고
    • Oxidative inactivation of calcineurin by Cu,Zn superoxide dismutase G93A, a mutant typical of familial amyotrophic lateral sclerosis
    • Ferri A, Gabbianelli R, Casciati A, Ceisi F, Rotilio G, Carri MT. Oxidative inactivation of calcineurin by Cu,Zn superoxide dismutase G93A, a mutant typical of familial amyotrophic lateral sclerosis. J Neurochem 2001: 79: 531-538.
    • (2001) J. Neurochem. , vol.79 , pp. 531-538
    • Ferri, A.1    Gabbianelli, R.2    Casciati, A.3    Ceisi, F.4    Rotilio, G.5    Carri, M.T.6
  • 117
    • 0033914937 scopus 로고    scopus 로고
    • Calcineurin activity is regulated both by redox compounds and by mutant familial amyotrophic lateral sclerosis-superoxide dismutase
    • Ferri A, Gabbianelli R, Casciati A, Paolucci E, Rotilio G, Carri MT. Calcineurin activity is regulated both by redox compounds and by mutant familial amyotrophic lateral sclerosis-superoxide dismutase. J Neurochem 2000: 75: 606-613.
    • (2000) J. Neurochem. , vol.75 , pp. 606-613
    • Ferri, A.1    Gabbianelli, R.2    Casciati, A.3    Paolucci, E.4    Rotilio, G.5    Carri, M.T.6
  • 118
    • 0031456315 scopus 로고    scopus 로고
    • Familial amyotrophic lateral sclerosis. Molecular pathology of a patient with a SOD1 mutation
    • Shaw CE, Enayat ZE, Powell JF et al. Familial amyotrophic lateral sclerosis. Molecular pathology of a patient with a SOD1 mutation. Neurology 1997: 49: 1612-1616.
    • (1997) Neurology , vol.49 , pp. 1612-1616
    • Shaw, C.E.1    Enayat, Z.E.2    Powell, J.F.3
  • 119
    • 0027944708 scopus 로고
    • Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient
    • Jones CT, Shaw PJ, Chari G, Brock DJ. Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient. Mol Cell Probes 1994: 8: 329-330.
    • (1994) Mol. Cell Probes , vol.8 , pp. 329-330
    • Jones, C.T.1    Shaw, P.J.2    Chari, G.3    Brock, D.J.4
  • 120
    • 0032713608 scopus 로고    scopus 로고
    • Accumulation of neurofilaments and SOD1-immunoreactive products in a patient with familial amyotrophic lateral sclerosis with I113T SOD1 mutation
    • Kokubo Y, Kuzuhara S, Narita Y et al. Accumulation of neurofilaments and SOD1-immunoreactive products in a patient with familial amyotrophic lateral sclerosis with I113T SOD1 mutation. Arch Neurol 1999: 56: 1506-1508.
    • (1999) Arch. Neurol. , vol.56 , pp. 1506-1508
    • Kokubo, Y.1    Kuzuhara, S.2    Narita, Y.3
  • 121
    • 0030034545 scopus 로고    scopus 로고
    • SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis
    • Rouleau GA, Clark AW, Rooke K et al. SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis. Ann Neurol 1996: 39: 128-131.
    • (1996) Ann. Neurol. , vol.39 , pp. 128-131
    • Rouleau, G.A.1    Clark, A.W.2    Rooke, K.3
  • 122
    • 0034209203 scopus 로고    scopus 로고
    • New consensus research on neuropathological aspects of familial amyotrophic lateral sclerosis with superoxide dismutase 1 (SOD1) gene mutations: Inclusions containing SOD1 in neurons and astrocytes
    • Kato S, Takikawa M, Nakashima K et al. New consensus research on neuropathological aspects of familial amyotrophic lateral sclerosis with superoxide dismutase 1 (SOD1) gene mutations: inclusions containing SOD1 in neurons and astrocytes. Amyotroph Eateral Scler Other Motor Neuron Disord 2000: 1: 163-184.
    • (2000) Amyotroph. Eateral Scler. Other Motor Neuron. Disord. , vol.1 , pp. 163-184
    • Kato, S.1    Takikawa, M.2    Nakashima, K.3
  • 123
    • 0034869733 scopus 로고    scopus 로고
    • Copper chaperone for superoxide dismutase co-aggregates with superoxide dismutase 1 (SOD1) in neuronal Lewy body-like hyaline inclusions: An immunohistochemical study on familial amyotrophic lateral sclerosis with SOD1 gene mutation
    • Kato S, Sumi-Akamaru H, Fujimura H et al. Copper chaperone for superoxide dismutase co-aggregates with superoxide dismutase 1 (SOD1) in neuronal Lewy body-like hyaline inclusions: an immunohistochemical study on familial amyotrophic lateral sclerosis with SOD1 gene mutation. Acta Neuropathol (Berl) 2001: 102: 233-238.
    • (2001) Acta Neuropathol. (Berl) , vol.102 , pp. 233-238
    • Kato, S.1    Sumi-Akamaru, H.2    Fujimura, H.3
  • 124
    • 0028334717 scopus 로고
    • Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35
    • Hentati A, Bejaoui K, Pericak-Vance MA et al. Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. Nat Genet 1994: 7: 425-428.
    • (1994) Nat. Genet. , vol.7 , pp. 425-428
    • Hentati, A.1    Bejaoui, K.2    Pericak-Vance, M.A.3
  • 125
    • 0035862551 scopus 로고    scopus 로고
    • Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: Candidate genes for ALS2
    • Hadano S, Yanagisawa Y, Skaug J et al. Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2. Genomics 2001: 71: 200-213.
    • (2001) Genomics , vol.71 , pp. 200-213
    • Hadano, S.1    Yanagisawa, Y.2    Skaug, J.3
  • 126
    • 0034785483 scopus 로고    scopus 로고
    • A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2
    • Hadano S, Hand CK, Osuga H et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 2001: 29: 166-173.
    • (2001) Nat. Genet. , vol.29 , pp. 166-173
    • Hadano, S.1    Hand, C.K.2    Osuga, H.3
  • 127
    • 0034785509 scopus 로고    scopus 로고
    • The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis
    • Yang Y, Hentati A, Deng HX et al. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 2001: 29: 160-165.
    • (2001) Nat. Genet. , vol.29 , pp. 160-165
    • Yang, Y.1    Hentati, A.2    Deng, H.X.3
  • 129
    • 0000976725 scopus 로고    scopus 로고
    • Linkage of a common locus for recessive amyotrophic lateral sclerosis
    • Hentati AOK, Pericak-Vance MA, Ahmad A et al. Linkage of a common locus for recessive amyotrophic lateral sclerosis. Am J Hum Genet 1997: 61: A279.
    • (1997) Am. J. Hum. Genet. , vol.61
    • Hentati, A.O.K.1    Pericak-Vance, M.A.2    Ahmad, A.3
  • 130
    • 0034001356 scopus 로고    scopus 로고
    • Sequencing, expression analysis, and mapping of three unique human tropomodulin genes and their mouse orthologs
    • Cox PR, Zoghbi HY. Sequencing, expression analysis, and mapping of three unique human tropomodulin genes and their mouse orthologs. Genomics 2000: 63: 97-107.
    • (2000) Genomics , vol.63 , pp. 97-107
    • Cox, P.R.1    Zoghbi, H.Y.2
  • 131
    • 18244393223 scopus 로고    scopus 로고
    • A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q
    • Hand CK, Khoris J, Salachas F et al. A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q. Am J Hum Genet 2001: 70: 1.
    • (2001) Am. J. Hum. Genet. , vol.70 , pp. 1
    • Hand, C.K.1    Khoris, J.2    Salachas, F.3
  • 132
  • 133
    • 0034093228 scopus 로고    scopus 로고
    • Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: Expansion of the disease phenotype caused by tau gene mutations
    • Stanford PM, Halliday GM, Brooks WS et al. Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations. Brain 2000: 123: 880-893.
    • (2000) Brain , vol.123 , pp. 880-893
    • Stanford, P.M.1    Halliday, G.M.2    Brooks, W.S.3
  • 134
    • 0032897924 scopus 로고    scopus 로고
    • A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L)
    • Bird TD, Nochlin D, Poorkaj P et al. A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L). Brain 1999: 122: 741-756.
    • (1999) Brain , vol.122 , pp. 741-756
    • Bird, T.D.1    Nochlin, D.2    Poorkaj, P.3
  • 135
    • 0034051721 scopus 로고    scopus 로고
    • Tau mutations in familial frontotemporal dementia
    • Spillantini MG, Goedert M. Tau mutations in familial frontotemporal dementia. Brain 2000: 123: 857-859.
    • (2000) Brain , vol.123 , pp. 857-859
    • Spillantini, M.G.1    Goedert, M.2
  • 136
    • 0033059975 scopus 로고    scopus 로고
    • Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau
    • Bugiani O, Murrell JR, Giaccone G et al. Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. J Neuropathol Exp Neurol 1999: 58: 667-677.
    • (1999) J. Neuropathol. Exp. Neurol. , vol.58 , pp. 667-677
    • Bugiani, O.1    Murrell, J.R.2    Giaccone, G.3
  • 137
    • 0035134195 scopus 로고    scopus 로고
    • Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene
    • Pastor P, Pastor E, Carnero C et al. Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene. Ann Neurol 2001: 49: 263-267.
    • (2001) Ann. Neurol. , vol.49 , pp. 263-267
    • Pastor, P.1    Pastor, E.2    Carnero, C.3
  • 138
    • 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
  • 139
    • 0031800415 scopus 로고    scopus 로고
    • Familial aggregation in frontotemporal dementia
    • Stevens M, van Duijn CM, Kamphorst W et al. Familial aggregation in frontotemporal dementia. Neurology 1998: 50: 1541-1545.
    • (1998) Neurology , vol.50 , pp. 1541-1545
    • Stevens, M.1    van Duijn, C.M.2    Kamphorst, W.3
  • 140
    • 0032837303 scopus 로고    scopus 로고
    • Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia
    • Houlden H, Baker M, Adamson J et al. Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia. Ann Neurol 1999: 46: 243-248.
    • (1999) Ann Neurol , vol.46 , pp. 243-248
    • Houlden, H.1    Baker, M.2    Adamson, J.3
  • 141
    • 0033070197 scopus 로고    scopus 로고
    • High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands
    • Rizzu P, Van Swieten JC, Joosse M et al. High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. Am J Hum Genet 1999: 64: 414-421.
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 414-421
    • Rizzu, P.1    Van Swieten, J.C.2    Joosse, M.3
  • 142
    • 0035108754 scopus 로고    scopus 로고
    • Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia
    • Poorkaj P, Grossman M, Steinbart E et al. Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia. Arch Neurol 2001: 58: 383-387.
    • (2001) Arch. Neurol. , vol.58 , pp. 383-387
    • Poorkaj, P.1    Grossman, M.2    Steinbart, E.3
  • 143
    • 0034640005 scopus 로고    scopus 로고
    • Untangling tau-related dementia
    • Heutink P. Untangling tau-related dementia. Hum Mol Genet 2000: 9: 979-986.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 979-986
    • Heutink, P.1
  • 144
    • 0033230886 scopus 로고    scopus 로고
    • Age-dependent emergence and progression of a tauopathy in transgenic mice overexpressing the shortest human tau isoform
    • Ishihara T, Hong M, Zhang B et al. Age-dependent emergence and progression of a tauopathy in transgenic mice overexpressing the shortest human tau isoform. Neuron 1999: 24: 751-762.
    • (1999) Neuron. , vol.24 , pp. 751-762
    • Ishihara, T.1    Hong, M.2    Zhang, B.3
  • 145
    • 0342803685 scopus 로고    scopus 로고
    • Axonopathy and amyotrophy in mice transgenic for human four-repeat tau protein
    • [In Process Citation]
    • Probst A, Gotz J, Wiederhold KH et al. Axonopathy and amyotrophy in mice transgenic for human four-repeat tau protein [In Process Citation]. Acta Neuropathol (Berl) 2000: 99: 469-481.
    • (2000) Acta Neuropathol. (Berl) , vol.99 , pp. 469-481
    • Probst, A.1    Gotz, J.2    Wiederhold, K.H.3
  • 146
    • 0032214501 scopus 로고    scopus 로고
    • Tau mutations cause frontotemporal dementias
    • Goedert M, Crowther RA, Spillantini MG. Tau mutations cause frontotemporal dementias. Neuron 1998: 21: 955-958.
    • (1998) Neuron , vol.21 , pp. 955-958
    • Goedert, M.1    Crowther, R.A.2    Spillantini, M.G.3
  • 147
    • 0036206405 scopus 로고    scopus 로고
    • Guadeloupean parkinsonism: A cluster of progressive supranuclear palsy-like tauopathy
    • Caparros-Lefebvre D, Sergeant N, Lees A et al. Guadeloupean parkinsonism: a cluster of progressive supranuclear palsy-like tauopathy. Brain 2002: 125: 801-811.
    • (2002) Brain , vol.125 , pp. 801-811
    • Caparros-Lefebvre, D.1    Sergeant, N.2    Lees, A.3
  • 148
    • 0034766790 scopus 로고    scopus 로고
    • Spinal cord neurofibrillary pathology in Alzheimer disease and Guam Parkinsonism-dementia complex
    • Schmidt ML, Zhukareva V, Perl DP et al. Spinal cord neurofibrillary pathology in Alzheimer disease and Guam Parkinsonism-dementia complex. J Neuropathol Exp Neurol 2001: 60: 1075-1086.
    • (2001) J. Neuropathol. Exp. Neurol. , vol.60 , pp. 1075-1086
    • Schmidt, M.L.1    Zhukareva, V.2    Perl, D.P.3
  • 149
    • 0034756931 scopus 로고    scopus 로고
    • TAU as a susceptibility gene for amyotropic lateral sclerosis-parkinsonism dementia complex of Guam
    • Poorkaj P, Tsuang D, Wijsman E et al. TAU as a susceptibility gene for amyotropic lateral sclerosis-parkinsonism dementia complex of Guam. Arch Neurol 2001: 58: 1871-1878.
    • (2001) Arch. Neurol. , vol.58 , pp. 1871-1878
    • Poorkaj, P.1    Tsuang, D.2    Wijsman, E.3
  • 150
    • 0029753029 scopus 로고    scopus 로고
    • Nigrostriatal dopaminergic function in familial amyotrophic lateral sclerosis patients with and without copper/zinc superoxide dismutase mutations
    • Przedborski S, Dhawan V, Donaldson DM et al. Nigrostriatal dopaminergic function in familial amyotrophic lateral sclerosis patients with and without copper/zinc superoxide dismutase mutations. Neurology 1996: 47: 1546-1551.
    • (1996) Neurology , vol.47 , pp. 1546-1551
    • Przedborski, S.1    Dhawan, V.2    Donaldson, D.M.3
  • 151
    • 0031215411 scopus 로고    scopus 로고
    • A missense mutation in the SOD1 gene in patients with amyotrophic lateral sclerosis from the Kii Peninsula and its vicinity, Japan
    • Kikugawa K, Nakano R, Inuzuka T et al. A missense mutation in the SOD1 gene in patients with amyotrophic lateral sclerosis from the Kii Peninsula and its vicinity, Japan. Neurogenetics 1997: 1: 113-115.
    • (1997) Neurogenetics , vol.1 , pp. 113-115
    • Kikugawa, K.1    Nakano, R.2    Inuzuka, T.3
  • 153
    • 0032573083 scopus 로고    scopus 로고
    • Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17
    • Clark LN, Poorkaj P, Wszolek Z et al. Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17. Proc Natl Acad Sci USA 1998: 95: 13103-13107.
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 13103-13107
    • Clark, L.N.1    Poorkaj, P.2    Wszolek, Z.3
  • 154
    • 7344220963 scopus 로고    scopus 로고
    • Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism
    • Dumanchin C, Camuzat A, Campion D et al. Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism. Hum Mol Genet 1998: 7: 1825-1829.
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 1825-1829
    • Dumanchin, C.1    Camuzat, A.2    Campion, D.3
  • 155
    • 0034605478 scopus 로고    scopus 로고
    • Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22
    • Hosler BA, Siddique T, Sapp PC et al. Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. JAMA 2000: 284: 1664-1669.
    • (2000) JAMA , vol.284 , pp. 1664-1669
    • Hosler, B.A.1    Siddique, T.2    Sapp, P.C.3
  • 156
    • 0026515287 scopus 로고
    • Frontal lobe function in amyotrophic lateral sclerosis: A neuropsychologic and positron emission tomography study
    • Ludolph AC, Langen KJ, Regard M et al. Frontal lobe function in amyotrophic lateral sclerosis: a neuropsychologic and positron emission tomography study. Acta Neurol Scand 1992: 85: 81-89.
    • (1992) Acta Neurol. Scand. , vol.85 , pp. 81-89
    • Ludolph, A.C.1    Langen, K.J.2    Regard, M.3
  • 157
    • 0033979070 scopus 로고    scopus 로고
    • Semantic dementia with ubiquitin-positive tau-negative inclusion bodies
    • Rossor MN, Revesz T, Lantos PL, Warrington EK. Semantic dementia with ubiquitin-positive tau-negative inclusion bodies. Brain 2000: 123: 267-276.
    • (2000) Brain , vol.123 , pp. 267-276
    • Rossor, M.N.1    Revesz, T.2    Lantos, P.L.3    Warrington, E.K.4
  • 158
    • 0028046648 scopus 로고
    • Familial aggregation of amyotrophic lateral sclerosis, dementia, and Parkinson's disease: Evidence of shared genetic susceptibility
    • Majoor-Krakauer D, Ottman R, Johnson WG, Rowland LP. Familial aggregation of amyotrophic lateral sclerosis, dementia, and Parkinson's disease: evidence of shared genetic susceptibility. Neurology 1994: 44: 1872-1877.
    • (1994) Neurology , vol.44 , pp. 1872-1877
    • Majoor-Krakauer, D.1    Ottman, R.2    Johnson, W.G.3    Rowland, L.P.4
  • 159
    • 0022465690 scopus 로고
    • A case-control study of amyotrophic lateral sclerosis
    • Deapen DM, Henderson BE. A case-control study of amyotrophic lateral sclerosis. Am J Epidemiol 1986: 123: 790-799.
    • (1986) Am. J. Epidemiol. , vol.123 , pp. 790-799
    • Deapen, D.M.1    Henderson, B.E.2
  • 160
    • 0026447465 scopus 로고
    • A case-control study of motor neurone disease: Its relation to heritability, and occupational exposures, particularly to solvents
    • Gunnarsson LG, Bodin L, Soderfeldt B, Axelson O. A case-control study of motor neurone disease: its relation to heritability, and occupational exposures, particularly to solvents. Br J Ind Med 1992: 49: 791-798.
    • (1992) Br. J. Ind. Med. , vol.49 , pp. 791-798
    • Gunnarsson, L.G.1    Bodin, L.2    Soderfeldt, B.3    Axelson, O.4
  • 162
    • 0023491067 scopus 로고
    • Chorea-acanthocytosis: A report of three new families and implications for genetic counselling
    • Vance JM, Pericak-Vance MA, Bowman MH et al. Chorea-acanthocytosis: a report of three new families and implications for genetic counselling. Am J Med Genet 1987: 28: 403-410.
    • (1987) Am. J. Med. Genet. , vol.28 , pp. 403-410
    • Vance, J.M.1    Pericak-Vance, M.A.2    Bowman, M.H.3
  • 163
    • 0021987477 scopus 로고
    • Familial tic disorder, parkinsonism, motor neuron disease, and acanthocytosis: A new syndrome
    • Spitz MC, Jankovic J, Killian JM. Familial tic disorder, parkinsonism, motor neuron disease, and acanthocytosis: a new syndrome. Neurology 1985: 35: 366-370.
    • (1985) Neurology , vol.35 , pp. 366-370
    • Spitz, M.C.1    Jankovic, J.2    Killian, J.M.3
  • 164
    • 16944362696 scopus 로고    scopus 로고
    • Chorea-acanthocytosis: Genetic linkage to chromosome 9q21
    • Rubio JP, Danek A, Stone C et al. Chorea-acanthocytosis: genetic linkage to chromosome 9q21. Am J Hum Genet 1997: 61: 899-908.
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 899-908
    • Rubio, J.P.1    Danek, A.2    Stone, C.3
  • 165
    • 0015817304 scopus 로고
    • Sporadic and familial parkinsonism and motor neuron disease
    • Brait K, Fahn S, Schwarz GA. Sporadic and familial parkinsonism and motor neuron disease. Neurology 1973: 23: 990-1002.
    • (1973) Neurology , vol.23 , pp. 990-1002
    • Brait, K.1    Fahn, S.2    Schwarz, G.A.3
  • 166
    • 0017136640 scopus 로고
    • A family with amyotrophic lateral sclerosis and parkinsonism
    • Alter M, Schaumann B. A family with amyotrophic lateral sclerosis and parkinsonism. J Neurol 1976: 212: 281-284.
    • (1976) J. Neurol. , vol.212 , pp. 281-284
    • Alter, M.1    Schaumann, B.2
  • 167
    • 77951382191 scopus 로고
    • Scleroses laterales amyotrophiques typiques et paralysies agitante hereditaire dans une meme famille avec une forme de passage possible entre les deux affections
    • van Bogaert L, Rademecker M. Scleroses laterales amyotrophiques typiques et paralysies agitante hereditaire dans une meme famille avec une forme de passage possible entre les deux affections. Neurology 1954: 127: 185-203.
    • (1954) Neurology , vol.127 , pp. 185-203
    • van Bogaert, L.1    Rademecker, M.2
  • 168
    • 84940132590 scopus 로고
    • Neural muscle atrophy with degeneration of the substamtia nigra
    • Biemond S, Beck W. Neural muscle atrophy with degeneration of the substamtia nigra. Confinia Neurol 1955: 15: 142-153.
    • (1955) Confinia Neurol. , vol.15 , pp. 142-153
    • Biemond, S.1    Beck, W.2
  • 169
    • 0015370048 scopus 로고
    • Late onset ataxia, rigidity, and peripheral neuropathy. A familial syndrome with variable therapeutic response to levodopa
    • Ziegler DK, Schimke RN, Kepes JJ, Rose DL, Klinkerfuss G. Late onset ataxia, rigidity, and peripheral neuropathy. A familial syndrome with variable therapeutic response to levodopa. Arch Neurol 1972: 27: 52-66.
    • (1972) Arch. Neurol. , vol.27 , pp. 52-66
    • Ziegler, D.K.1    Schimke, R.N.2    Kepes, J.J.3    Rose, D.L.4    Klinkerfuss, G.5
  • 170
    • 0026590278 scopus 로고
    • Familial motor neuron disease with Lewy body-like inclusions in the substantia nigra, the subthalamic nucleus, and the globus pallidus
    • Tranchant C, Dugay MH, Mohr M, Wasser P, Warter JM. Familial motor neuron disease with Lewy body-like inclusions in the substantia nigra, the subthalamic nucleus, and the globus pallidus. J Neurol Sci 1992: 108: 18-23.
    • (1992) J. Neurol. Sci. , vol.108 , pp. 18-23
    • Tranchant, C.1    Dugay, M.H.2    Mohr, M.3    Wasser, P.4    Warter, J.M.5
  • 171
    • 0014315462 scopus 로고
    • Juvenile amyotrophic lateral sclerosis-dementia complex in a Dutch family
    • Staal A, Went LN. Juvenile amyotrophic lateral sclerosis-dementia complex in a Dutch family. Neurology 1968: 18: 800-806.
    • (1968) Neurology , vol.18 , pp. 800-806
    • Staal, A.1    Went, L.N.2
  • 174
    • 0015818372 scopus 로고
    • Cerebral lesions in familial amyotrophic lateral sclerosis and dementia
    • Finlayson MH, Martin JB. Cerebral lesions in familial amyotrophic lateral sclerosis and dementia. Acta Neuropathol (Berl) 1973: 26: 237-246.
    • (1973) Acta Neuropathol. (Berl) , vol.26 , pp. 237-246
    • Finlayson, M.H.1    Martin, J.B.2
  • 175
    • 0016832305 scopus 로고
    • Familial amyotrophic lateral sclerosis with dementia: A second canadian family
    • Pinsky L, Finlayson MH, Libman I, Scott BH. Familial amyotrophic lateral sclerosis with dementia: a second canadian family. Clin Genet 1975: 7: 186-191.
    • (1975) Clin. Genet. , vol.7 , pp. 186-191
    • Pinsky, L.1    Finlayson, M.H.2    Libman, I.3    Scott, B.H.4
  • 176
    • 0001498752 scopus 로고
    • Progressive bulbar palsy showing heredofamilial incidence and intellectual impairment
    • Robertson E. Progressive bulbar palsy showing heredofamilial incidence and intellectual impairment. Arch Neurol 1953: 69: 197-207.
    • (1953) Arch. Neurol. , vol.69 , pp. 197-207
    • Robertson, E.1
  • 177
    • 0025950676 scopus 로고
    • Motor neuron disease and dementia reported among 13 members of a single family
    • Gunnarsson LG, Dahlbom K, Strandman E. Motor neuron disease and dementia reported among 13 members of a single family Acta Neurol Scand 1991: 84: 429-433.
    • (1991) Acta Neurol. Scand. , vol.84 , pp. 429-433
    • Gunnarsson, L.G.1    Dahlbom, K.2    Strandman, E.3
  • 178
    • 0020346511 scopus 로고
    • Amyotrophy in multisystem genetic diseases
    • Rosenberg RN. Amyotrophy in multisystem genetic diseases. Adv Neurol 1982: 36: 149-158.
    • (1982) Adv. Neurol. , vol.36 , pp. 149-158
    • Rosenberg, R.N.1
  • 179
    • 0015547179 scopus 로고
    • Amyotrophic lateral sclerosis-dementia complex, neuroaxonal dystrophy, and Hallervorden-Spatz disease
    • Bots GT, Staal A. Amyotrophic lateral sclerosis-dementia complex, neuroaxonal dystrophy, and Hallervorden-Spatz disease. Neurology 1973: 23: 35-39.
    • (1973) Neurology , vol.23 , pp. 35-39
    • Bots, G.T.1    Staal, A.2
  • 180
    • 3543045520 scopus 로고    scopus 로고
    • Superoxide dismutase and neurofilament transgenic models of amyotrophic lateral sclerosis
    • Morrison BM, Morrison JH, Gordon JW. Superoxide dismutase and neurofilament transgenic models of amyotrophic lateral sclerosis. J Exp Zool 1998: 282: 32-47.
    • (1998) J. Exp. Zool. , vol.282 , pp. 32-47
    • Morrison, B.M.1    Morrison, J.H.2    Gordon, J.W.3
  • 181
    • 0032821709 scopus 로고    scopus 로고
    • Neurofilament functions in health and disease
    • Julien JP. Neurofilament functions in health and disease. Curr Opin Neurobiol 1999: 9: 554-560.
    • (1999) Curr. Opin. Neurobiol. , vol.9 , pp. 554-560
    • Julien, J.P.1
  • 182
    • 0026739393 scopus 로고
    • Peripherin and neurofilament protein coexist in spinal spheroids of motor neuron disease
    • Corbo M, Hays AR Peripherin and neurofilament protein coexist in spinal spheroids of motor neuron disease. J Neuropathol Exp Neurol 1992: 51: 531-537.
    • (1992) J. Neuropathol. Exp. Neurol. , vol.51 , pp. 531-537
    • Corbo, M.1    Hays, A.R.2
  • 183
    • 0033230327 scopus 로고    scopus 로고
    • Late onset death of motor neurons in mice overexpressing wild-type peripherin
    • Beaulieu JM, Nguyen MD, Julien JP. Late onset death of motor neurons in mice overexpressing wild-type peripherin. J Cell Biol 1999: 147: 531-544.
    • (1999) J. Cell Biol. , vol.147 , pp. 531-544
    • Beaulieu, J.M.1    Nguyen, M.D.2    Julien, J.P.3
  • 184
    • 0035889079 scopus 로고    scopus 로고
    • Apoptotic death of neurons exhibiting peripherin aggregates is mediated by the proinflammatory cytokine tumor necrosis factor-alpha
    • Robertson J, Beaulieu JM, Doroudchi MM, Durham HD, Julien JP, Mushynski WE. Apoptotic death of neurons exhibiting peripherin aggregates is mediated by the proinflammatory cytokine tumor necrosis factor-alpha. J Cell Biol 2001: 155: 217-226.
    • (2001) J. Cell Biol. , vol.155 , pp. 217-226
    • Robertson, J.1    Beaulieu, J.M.2    Doroudchi, M.M.3    Durham, H.D.4    Julien, J.P.5    Mushynski, W.E.6
  • 185
    • 0032926368 scopus 로고    scopus 로고
    • Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis
    • Al-Chalabi A, Andersen PM, Nilsson P et al. Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis. Hum Mol Genet 1999: 8: 157-164.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 157-164
    • Al-Chalabi, A.1    Andersen, P.M.2    Nilsson, P.3
  • 186
    • 0033231494 scopus 로고    scopus 로고
    • From Charcot to SOD1: Mechanisms of selective motor neuron death in ALS
    • Cleveland DW. From Charcot to SOD1: mechanisms of selective motor neuron death in ALS. Neuron 1999: 24: 515-520.
    • (1999) Neuron , vol.24 , pp. 515-520
    • Cleveland, D.W.1
  • 187
    • 0028001606 scopus 로고
    • Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis
    • Figlewicz DA, Krizus A, Martinoli MG et al. Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. Hum Mol Genet 1994: 3: 1757-1761.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 1757-1761
    • Figlewicz, D.A.1    Krizus, A.2    Martinoli, M.G.3
  • 188
    • 0028284779 scopus 로고
    • Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation
    • Gurney ME, Pu H, Chiu AY et al. Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation. Science 1994: 264: 1772-1775.
    • (1994) Science , vol.264 , pp. 1772-1775
    • Gurney, M.E.1    Pu, H.2    Chiu, A.Y.3
  • 189
    • 0023256949 scopus 로고
    • The structure of a human neurofilament gene (NF-L): A unique exon-intron organization in the intermediate filament gene family
    • Julien JP, Grosveld F, Yazdanbaksh K, Flavell D, Meijer D, Mushynski W. The structure of a human neurofilament gene (NF-L): a unique exon-intron organization in the intermediate filament gene family. Biochim Biophys Acta 1987: 909: 10-20.
    • (1987) Biochim. Biophys. Acta , vol.909 , pp. 10-20
    • Julien, J.P.1    Grosveld, F.2    Yazdanbaksh, K.3    Flavell, D.4    Meijer, D.5    Mushynski, W.6
  • 190
    • 0032427646 scopus 로고    scopus 로고
    • Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS)
    • Tomkins J, Usher P, Slade JY et al. Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS). Neuroreport 1998: 9: 3967-3970.
    • (1998) Neuroreport , vol.9 , pp. 3967-3970
    • Tomkins, J.1    Usher, P.2    Slade, J.Y.3
  • 191
    • 0027410516 scopus 로고
    • Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease
    • Xu Z, Cork LC, Griffin JW, Cleveland DW. Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease. Cell 1993: 73: 23-33.
    • (1993) Cell , vol.73 , pp. 23-33
    • Xu, Z.1    Cork, L.C.2    Griffin, J.W.3    Cleveland, D.W.4
  • 192
    • 0029004898 scopus 로고
    • Defective axonal transport in a transgenic mouse model of amyotrophic lateral sclerosis
    • Collard JF Cote F, Julien JP. Defective axonal transport in a transgenic mouse model of amyotrophic lateral sclerosis. Nature 1995: 375: 61-64.
    • (1995) Nature , vol.375 , pp. 61-64
    • Collard, J.F.1    Cote, F.2    Julien, J.P.3
  • 193
    • 0033763630 scopus 로고    scopus 로고
    • Characterization of neuronal intermediate filament protein expression in cervical spinal motor neurons in sporadic amyotrophic lateral sclerosis (ALS)
    • Wong NK, He BP, Strong MJ. Characterization of neuronal intermediate filament protein expression in cervical spinal motor neurons in sporadic amyotrophic lateral sclerosis (ALS). J Neuropathol Exp Neurol 2000: 59: 972-982.
    • (2000) J. Neuropathol. Exp. Neurol. , vol.59 , pp. 972-982
    • Wong, N.K.1    He, B.P.2    Strong, M.J.3
  • 194
    • 0034662120 scopus 로고    scopus 로고
    • Formation of intermediate filament protein aggregates with disparate effects in two transgenic mouse models lacking the neurofilament light subunit
    • Beaulieu JM, Jacomy H, Julien JP. Formation of intermediate filament protein aggregates with disparate effects in two transgenic mouse models lacking the neurofilament light subunit. J Neurosci 2000: 20: 5321-5328.
    • (2000) J. Neurosci. , vol.20 , pp. 5321-5328
    • Beaulieu, J.M.1    Jacomy, H.2    Julien, J.P.3
  • 195
    • 0033911099 scopus 로고    scopus 로고
    • A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene
    • Mersiyanova IV, Perepelov AV, Polyakov AV et al. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet 2000: 67: 37-46.
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 37-46
    • Mersiyanova, I.V.1    Perepelov, A.V.2    Polyakov, A.V.3
  • 196
    • 0028116467 scopus 로고
    • A mutant neurofilament subunit causes massive, selective motor neuron death: Implications for the pathogenesis of human motor neuron disease
    • Lee MK, Marszalek JR, Cleveland DW. A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease. Neuron 1994: 13: 975-988.
    • (1994) Neuron , vol.13 , pp. 975-988
    • Lee, M.K.1    Marszalek, J.R.2    Cleveland, D.W.3
  • 197
    • 0034710986 scopus 로고    scopus 로고
    • Reduction of axonal caliber does not alleviate motor neuron disease caused by mutant superoxide dismutase 1
    • Nguyen MD, Lariviere RC, Julien JP. Reduction of axonal caliber does not alleviate motor neuron disease caused by mutant superoxide dismutase 1. Proc Natl Acad Sci USA 2000: 97: 12306-12311.
    • (2000) Proc. Natl. Acad. Sci. USA , vol.97 , pp. 12306-12311
    • Nguyen, M.D.1    Lariviere, R.C.2    Julien, J.P.3
  • 198
    • 0033953140 scopus 로고    scopus 로고
    • Overexpression of neurofilament subunit NF-L and NF-H extends survival of a mouse model for amyotrophic lateral sclerosis
    • Kong J, Xu Z. Overexpression of neurofilament subunit NF-L and NF-H extends survival of a mouse model for amyotrophic lateral sclerosis. Neurosci Lett 2000: 281: 72-74.
    • (2000) Neurosci. Lett. , vol.281 , pp. 72-74
    • Kong, J.1    Xu, Z.2
  • 199
    • 0033830020 scopus 로고    scopus 로고
    • Extra axonal neurofilaments do not exacerbate disease caused by mutant Cu,Zn superoxide dismutase
    • Couillard-Despres S, Meier J, Julien JP. Extra axonal neurofilaments do not exacerbate disease caused by mutant Cu,Zn superoxide dismutase. Neurobiol Dis 2000: 7: 462-470.
    • (2000) Neurobiol. Dis. , vol.7 , pp. 462-470
    • Couillard-Despres, S.1    Meier, J.2    Julien, J.P.3
  • 201
    • 0035936804 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis unfolding the toxicity of the misfolded
    • Julien JP. Amyotrophic lateral sclerosis. unfolding the toxicity of the misfolded. Cell 2001: 104: 581-591.
    • (2001) Cell , vol.104 , pp. 581-591
    • Julien, J.P.1
  • 203
    • 0034763566 scopus 로고    scopus 로고
    • Parvalbumin overexpression alters immune-mediated increases in intracellular calcium, and delays disease onset in a transgenic model of familial amyotrophic lateral sclerosis
    • Beers DR, Ho BK, Siklos L et al. Parvalbumin overexpression alters immune-mediated increases in intracellular calcium, and delays disease onset in a transgenic model of familial amyotrophic lateral sclerosis. J Neurochem 2001: 79: 499-509.
    • (2001) J. Neurochem. , vol.79 , pp. 499-509
    • Beers, D.R.1    Ho, B.K.2    Siklos, L.3
  • 204
    • 0032032013 scopus 로고    scopus 로고
    • Aberrant RNA processing in a neurodegenerative disease: The cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis
    • Lin CL, Bristol LA, Jin L et al. Aberrant RNA processing in a neurodegenerative disease: the cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis. Neuron 1998: 20: 589-602.
    • (1998) Neuron , vol.20 , pp. 589-602
    • Lin, C.L.1    Bristol, L.A.2    Jin, L.3
  • 205
    • 0025299819 scopus 로고
    • Abnormal excitatory amino acid metabolism in amyotrophic lateral sclerosis
    • Rothstein JD, Tsai G, Kuncl RW et al. Abnormal excitatory amino acid metabolism in amyotrophic lateral sclerosis. Ann Neurol 1990: 28: 18-25.
    • (1990) Ann. Neurol. , vol.28 , pp. 18-25
    • Rothstein, J.D.1    Tsai, G.2    Kuncl, R.W.3
  • 206
    • 0026597010 scopus 로고
    • Decreased glutamate transport by the brain and spinal cord in amyotrophic lateral sclerosis
    • Rothstein JD, Martin LJ, Kuncl RW. Decreased glutamate transport by the brain and spinal cord in amyotrophic lateral sclerosis. N Engl J Med 1992: 326: 1464-1468.
    • (1992) N. Engl. J. Med. , vol.326 , pp. 1464-1468
    • Rothstein, J.D.1    Martin, L.J.2    Kuncl, R.W.3
  • 207
    • 0030015076 scopus 로고    scopus 로고
    • Motor neurons are selectively vulnerable to AMPA/kainate receptor-mediated injury in vitro
    • Carriedo SG, Yin HZ, Weiss JH. Motor neurons are selectively vulnerable to AMPA/kainate receptor-mediated injury in vitro. J Neurosci 1996: 16: 406Y-4079.
    • (1996) J. Neurosci. , vol.16 , pp. 4069-4079
    • Carriedo, S.G.1    Yin, H.Z.2    Weiss, J.H.3
  • 208
    • 0032752054 scopus 로고    scopus 로고
    • Reduction of GluR2 RNA editing, a molecular change that increases calcium influx through AMPA receptors, selective in the spinal ventral gray of patients with amyotrophic lateral sclerosis
    • Takuma H, Kwak S, Yoshizawa T, Kanazawa I. Reduction of GluR2 RNA editing, a molecular change that increases calcium influx through AMPA receptors, selective in the spinal ventral gray of patients with amyotrophic lateral sclerosis. Ann Neurol 1999: 46: 806-815.
    • (1999) Ann. Neurol. , vol.46 , pp. 806-815
    • Takuma, H.1    Kwak, S.2    Yoshizawa, T.3    Kanazawa, I.4
  • 209
    • 0032550129 scopus 로고    scopus 로고
    • Neuronal apoptosis is associated with a decrease in tau mRNA expression
    • Esclaire F, Terro F, Yardin C, Hugon J. Neuronal apoptosis is associated with a decrease in tau mRNA expression. Neuroreport 1998: 9: 1173-1177.
    • (1998) Neuroreport , vol.9 , pp. 1173-1177
    • Esclaire, F.1    Terro, F.2    Yardin, C.3    Hugon, J.4
  • 210
    • 0023181410 scopus 로고
    • Guam amyotrophic lateral sclerosis-parkinsonism-dementia linked to a plant excitant neurotoxin
    • Spencer PS, Nunn PB, Hugon J et al. Guam amyotrophic lateral sclerosis-parkinsonism-dementia linked to a plant excitant neurotoxin. Science 1987: 237: 517-522.
    • (1987) Science , vol.237 , pp. 517-522
    • Spencer, P.S.1    Nunn, P.B.2    Hugon, J.3
  • 211
    • 0029015501 scopus 로고
    • Modulation of tau neuronal expression induced by NMDA, non-NMDA and metabotropic glutamate receptor agonists
    • Couratier P, Sindou P, Tabaraud F, Diop AG, Spencer PS, Hugon J. Modulation of tau neuronal expression induced by NMDA, non-NMDA and metabotropic glutamate receptor agonists. Neurodegeneration 1995: 4: 33-41.
    • (1995) Neurodegeneration , vol.4 , pp. 33-41
    • Couratier, P.1    Sindou, P.2    Tabaraud, F.3    Diop, A.G.4    Spencer, P.S.5    Hugon, J.6
  • 212
    • 0030769436 scopus 로고    scopus 로고
    • Glutamate toxicity enhances tau gene expression in neuronal cultures
    • Esclaire F, Lesort M, Blanchard C, Hugon J. Glutamate toxicity enhances tau gene expression in neuronal cultures. J Neurosci Res 1997: 49: 309-318.
    • (1997) J. Neurosci. Res. , vol.49 , pp. 309-318
    • Esclaire, F.1    Lesort, M.2    Blanchard, C.3    Hugon, J.4
  • 213
    • 0026593237 scopus 로고
    • A dose-dependent increase of Tau immunostaining is produced by glutamate toxicity in primary neuronal cultures
    • Sindou P, Couratier P, Barthe D, Hugon J. A dose-dependent increase of Tau immunostaining is produced by glutamate toxicity in primary neuronal cultures. Brain Res 1992: 572: 242-246.
    • (1992) Brain Res. , vol.572 , pp. 242-246
    • Sindou, P.1    Couratier, P.2    Barthe, D.3    Hugon, J.4
  • 214
    • 0028173843 scopus 로고
    • Glutamate increases tau phosphorylation in primary neuronal cultures from fetal rat cerebral cortex
    • Sindou P, Lesort M, Couratier P, Yardin C, Esclaire F, Hugon J. Glutamate increases tau phosphorylation in primary neuronal cultures from fetal rat cerebral cortex. Brain Res 1994: 646: 124-128.
    • (1994) Brain Res. , vol.646 , pp. 124-128
    • Sindou, P.1    Lesort, M.2    Couratier, P.3    Yardin, C.4    Esclaire, F.5    Hugon, J.6
  • 215
  • 216
    • 0031957298 scopus 로고    scopus 로고
    • Mutations in the glutamate transporter EAAT2 gene do not cause abnormal EAAT2 transcripts in amyotrophic lateral sclerosis
    • Aoki M, Lin CL, Rothstein JD et al. Mutations in the glutamate transporter EAAT2 gene do not cause abnormal EAAT2 transcripts in amyotrophic lateral sclerosis. Ann Neurol 1998: 43: 645-653.
    • (1998) Ann. Neurol. , vol.43 , pp. 645-653
    • Aoki, M.1    Lin, C.L.2    Rothstein, J.D.3
  • 217
    • 0033397263 scopus 로고    scopus 로고
    • Polymorphisms in the glutamate transporter gene EAAT2 in European ALS patients
    • Jackson M, Steers G, Leigh PN, Morrison KE. Polymorphisms in the glutamate transporter gene EAAT2 in European ALS patients. J Neurol 1999: 246: 1140-1144.
    • (1999) J. Neurol. , vol.246 , pp. 1140-1144
    • Jackson, M.1    Steers, G.2    Leigh, P.N.3    Morrison, K.E.4
  • 218
    • 0031755870 scopus 로고    scopus 로고
    • The EAAT2 (GLT-1) gene in motor neuron disease: Absence of mutations in amyotrophic lateral sclerosis and a point mutation in patients with hereditary spastic paraplegia
    • Meyer T, Munch C, Volkel H, Booms P, Ludolph AC. The EAAT2 (GLT-1) gene in motor neuron disease: absence of mutations in amyotrophic lateral sclerosis and a point mutation in patients with hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry 1998: 65: 594-596.
    • (1998) J. Neurol. Neurosurg. Psychiatry , vol.65 , pp. 594-596
    • Meyer, T.1    Munch, C.2    Volkel, H.3    Booms, P.4    Ludolph, A.C.5
  • 219
    • 0028991091 scopus 로고
    • Apolipoprotein E epsilon 4 allele is not associated with earlier age at onset in amyotrophic lateral sclerosis
    • Mui S, Rebeck GW, McKenna-Yasek D, Hyman BT, Brown RH Jr. Apolipoprotein E epsilon 4 allele is not associated with earlier age at onset in amyotrophic lateral sclerosis. Ann Neurol 1995: 38: 460-463.
    • (1995) Ann. Neurol. , vol.38 , pp. 460-463
    • Mui, S.1    Rebeck, G.W.2    McKenna-Yasek, D.3    Hyman, B.T.4    Brown R.H., Jr.5
  • 220
    • 0030025431 scopus 로고    scopus 로고
    • Association of apolipoprotein E epsilon 4 allele with bulbar-onset motor neuron disease
    • Al-Chalabi A, Enayat ZE, Bakker MC et al. Association of apolipoprotein E epsilon 4 allele with bulbar-onset motor neuron disease. Lancet 1996: 347: 159-160.
    • (1996) Lancet , vol.347 , pp. 159-160
    • Al-Chalabi, A.1    Enayat, Z.E.2    Bakker, M.C.3
  • 221
    • 0033926434 scopus 로고    scopus 로고
    • The number of trait loci in late-onset Alzheimer disease
    • Warwick Daw E, Payami H, Nemens EJ et al. The number of trait loci in late-onset Alzheimer disease. Am J Hum Genet 2000: 66: 196-204.
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 196-204
    • Warwick Daw, E.1    Payami, H.2    Nemens, E.J.3
  • 222
    • 0035885774 scopus 로고    scopus 로고
    • Association of APOE varepsilon4 allele with survival in amyotrophic lateral sclerosis
    • Drory VE, Birnbaum M, Korczyn AD, Chapman J. Association of APOE varepsilon4 allele with survival in amyotrophic lateral sclerosis. J Neurol Sci 2001: 190: 17-20.
    • (2001) J. Neurol. Sci. , vol.190 , pp. 17-20
    • Drory, V.E.1    Birnbaum, M.2    Korczyn, A.D.3    Chapman, J.4
  • 223
    • 0027407565 scopus 로고
    • High-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease
    • Strittmatter WJ, Saunders AM, Schmechel D et al. High-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc Natl Acad Sci USA 1993: 90: 1977-1981.
    • (1993) Proc. Natl. Acad. Sci. USA , vol.90 , pp. 1977-1981
    • Strittmatter, W.J.1    Saunders, A.M.2    Schmechel, D.3
  • 224
    • 0034063728 scopus 로고    scopus 로고
    • A mechanism for the neuroprotective effect of apolipoprotein E. isoform-specific modification by the lipid peroxidation product 4-hydroxynonenal
    • Pedersen WA, Chan SL, Mattson MP. A mechanism for the neuroprotective effect of apolipoprotein E. isoform-specific modification by the lipid peroxidation product 4-hydroxynonenal. J Neurochem 2000: 74: 1426-1433.
    • (2000) J. Neurochem. , vol.74 , pp. 1426-1433
    • Pedersen, W.A.1    Chan, S.L.2    Mattson, M.P.3
  • 225
    • 0031055605 scopus 로고    scopus 로고
    • Lack of association of apolipoprotein E epsilon 4 allele with bulbar-onset motor neuron disease
    • Bachus R, Bader S, Gessner R, Ludolph AC. Lack of association of apolipoprotein E epsilon 4 allele with bulbar-onset motor neuron disease. Ann Neurol 1997: 41: 417.
    • (1997) Ann. Neurol. , vol.41 , pp. 417
    • Bachus, R.1    Bader, S.2    Gessner, R.3    Ludolph, A.C.4
  • 226
    • 0029666061 scopus 로고    scopus 로고
    • Apolipoprotein E epsilon 4 in bulbar-onset motor neuron disease
    • Smith RG, Haverkamp LJ, Case S, Appel V, Appel SH. Apolipoprotein E epsilon 4 in bulbar-onset motor neuron disease. Lancet 1996: 348: 334-335.
    • (1996) Lancet , vol.348 , pp. 334-335
    • Smith, R.G.1    Haverkamp, L.J.2    Case, S.3    Appel, V.4    Appel, S.H.5
  • 227
    • 0028764896 scopus 로고
    • Apolipoprotein E allele in Chamorros with arnyotrophic lateral sclerosis/parkinsonism-dementia complex
    • Waring SC, O'Brien PC, Kurland LT et al. Apolipoprotein E allele in Chamorros with arnyotrophic lateral sclerosis/parkinsonism-dementia complex. Lancet 1994: 343: 611.
    • (1994) Lancet , vol.343 , pp. 611
    • Waring, S.C.1    O'Brien, P.C.2    Kurland, L.T.3
  • 228
    • 0032842352 scopus 로고    scopus 로고
    • Decrease in the ciliary neurotrophic factor of the spinal cord in amyotrophic lateral sclerosis
    • Ono S, Imai T, Igarashi A, Shimizu N, Nakagawa H, Hu J. Decrease in the ciliary neurotrophic factor of the spinal cord in amyotrophic lateral sclerosis. Eur Neurol 1999: 42: 163-168.
    • (1999) Eur. Neurol. , vol.42 , pp. 163-168
    • Ono, S.1    Imai, T.2    Igarashi, A.3    Shimizu, N.4    Nakagawa, H.5    Hu, J.6
  • 229
  • 230
    • 0029142863 scopus 로고
    • Investigation of a null mutation of the CNTF gene in familial amyotrophic lateral sclerosis
    • Orrell RW, King AW, Lane RJ, de Belleroche JS. Investigation of a null mutation of the CNTF gene in familial amyotrophic lateral sclerosis. J Neurol Sci 1995: 132: 126-128.
    • (1995) J. Neurol. Sci. , vol.132 , pp. 126-128
    • Orrell, R.W.1    King, A.W.2    Lane, R.J.3    de Belleroche, J.S.4
  • 231
    • 0028021552 scopus 로고
    • A null mutation in the human CNTF gene is not causally related to neurological diseases
    • Takahashi R, Yokoji H, Misawa H, Hayashi M, Hu J, Deguchi T. A null mutation in the human CNTF gene is not causally related to neurological diseases. Nat Genet 1994: 7: 79-84.
    • (1994) Nat. Genet. , vol.7 , pp. 79-84
    • Takahashi, R.1    Yokoji, H.2    Misawa, H.3    Hayashi, M.4    Hu, J.5    Deguchi, T.6
  • 232
    • 0026747176 scopus 로고
    • Debrisoquine hydroxylase gene polymorphism and susceptibility to Parkinson's disease
    • [published erratum appears in Lancet 1992 July 4; 340 64] [see comments] (8810)
    • Smith CA, Gough AC, Leigh PN et al. Debrisoquine hydroxylase gene polymorphism and susceptibility to Parkinson's disease [published erratum appears in Lancet 1992 July 4; 340 (8810): 64] [see comments]. Lancet 1992: 339: 1375-1377.
    • (1992) Lancet , vol.339 , pp. 1375-1377
    • Smith, C.A.1    Gough, A.C.2    Leigh, P.N.3
  • 233
    • 0042693101 scopus 로고
    • Debrisoquine hydroxylase gene polymorphism in motor neuron disease
    • James CM, Daniels J, Wiles CM, Owen MJ. Debrisoquine hydroxylase gene polymorphism in motor neuron disease. Neurodegeneration 1994: 3: 149-152.
    • (1994) Neurodegeneration , vol.3 , pp. 149-152
    • James, C.M.1    Daniels, J.2    Wiles, C.M.3    Owen, M.J.4
  • 234
    • 0029921651 scopus 로고    scopus 로고
    • Debrisoquine hydroxylase gene polymorphism frequencies in patients with amyotrophic lateral sclerosis
    • Siddons MA, Pickering-Brown SM, Mann DM, Owen F, Cooper PN. Debrisoquine hydroxylase gene polymorphism frequencies in patients with amyotrophic lateral sclerosis. Neurosci Lett 1996: 208: 65-68.
    • (1996) Neurosci. Lett. , vol.208 , pp. 65-68
    • Siddons, M.A.1    Pickering-Brown, S.M.2    Mann, D.M.3    Owen, F.4    Cooper, P.N.5
  • 235
    • 0030916372 scopus 로고    scopus 로고
    • Evidence of reduced DNA repair in amyotrophic lateral sclerosis brain tissue
    • Kisby GE, Milne J, Sweatt C. Evidence of reduced DNA repair in amyotrophic lateral sclerosis brain tissue. Neuroreport 1997: 8: 1337-1340.
    • (1997) Neuroreport , vol.8 , pp. 1337-1340
    • Kisby, G.E.1    Milne, J.2    Sweatt, C.3
  • 236
    • 0032567807 scopus 로고    scopus 로고
    • Mutant AP endonuclease in patients with amyotrophic lateral sclerosis
    • Olkowski ZL. Mutant AP endonuclease in patients with amyotrophic lateral sclerosis. Neuroreport 1998: 9: 239-242.
    • (1998) Neuroreport , vol.9 , pp. 239-242
    • Olkowski, Z.L.1
  • 237
    • 0033009789 scopus 로고    scopus 로고
    • Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis
    • Hayward C, Colville S, Swingler RJ, Brock DJ. Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis. Neurology 1999: 52: 1899-1901.
    • (1999) Neurology , vol.52 , pp. 1899-1901
    • Hayward, C.1    Colville, S.2    Swingler, R.J.3    Brock, D.J.4
  • 238
    • 0034608478 scopus 로고    scopus 로고
    • Screening of AP endonuclease as a candidate gene for amyotrophic lateral sclerosis (ALS)
    • Tomkins J, Dempster S, Banner SJ, Cookson MR, Shaw PJ. Screening of AP endonuclease as a candidate gene for amyotrophic lateral sclerosis (ALS). Neuroreport 2000: 11: 1695-1697.
    • (2000) Neuroreport , vol.11 , pp. 1695-1697
    • Tomkins, J.1    Dempster, S.2    Banner, S.J.3    Cookson, M.R.4    Shaw, P.J.5
  • 239
    • 0034237719 scopus 로고    scopus 로고
    • Energetics in the pathogenesis of neurodegenerative diseases
    • Beal MF. Energetics in the pathogenesis of neurodegenerative diseases. Trends Neurosci 2000: 23: 298-304.
    • (2000) Trends Neurosci. , vol.23 , pp. 298-304
    • Beal, M.F.1
  • 240
    • 0032539791 scopus 로고    scopus 로고
    • Impairment of mitochondrial function in skeletal muscle of patients with amyotrophic lateral sclerosis
    • Wiedemann FR, Winkler K, Kuznetsov AV et al. Impairment of mitochondrial function in skeletal muscle of patients with amyotrophic lateral sclerosis. J Neurol Sci 1998: 156: 65-72.
    • (1998) J. Neurol. Sci. , vol.156 , pp. 65-72
    • Wiedemann, F.R.1    Winkler, K.2    Kuznetsov, A.V.3
  • 241
    • 0031768026 scopus 로고    scopus 로고
    • Protein modification by the lipid peroxidation product 4-hydroxynonenal in the spinal cords of amyotrophic lateral sclerosis patients
    • Pedersen WA, Fu W, Keller JN et al. Protein modification by the lipid peroxidation product 4-hydroxynonenal in the spinal cords of amyotrophic lateral sclerosis patients. Ann Neurol 1998: 44: 819-824.
    • (1998) Ann. Neurol. , vol.44 , pp. 819-824
    • Pedersen, W.A.1    Fu, W.2    Keller, J.N.3
  • 242
    • 0029082389 scopus 로고
    • Oxidative damage to protein in sporadic motor neuron disease spinal cord
    • Shaw PJ, Ince PG, Falkous G, Mantle D. Oxidative damage to protein in sporadic motor neuron disease spinal cord. Ann Neurol 1995: 38: 691-695.
    • (1995) Ann. Neurol. , vol.38 , pp. 691-695
    • Shaw, P.J.1    Ince, P.G.2    Falkous, G.3    Mantle, D.4
  • 243
    • 0027359334 scopus 로고
    • Superoxide dismutase activity, oxidative damage, and mitochondrial energy metabolism in familial and sporadic amyotrophic lateral sclerosis
    • Bowling AC, Schulz JB, Brown RH Jr, Beal MF. Superoxide dismutase activity, oxidative damage, and mitochondrial energy metabolism in familial and sporadic amyotrophic lateral sclerosis. J Neurochem 1993: 61: 2322-2325.
    • (1993) J. Neurochem. , vol.61 , pp. 2322-2325
    • Bowling, A.C.1    Schulz, J.B.2    Brown R.H., Jr.3    Beal, M.F.4
  • 244
    • 0032079517 scopus 로고    scopus 로고
    • Massive mitochondrial degeneration in motor neurons triggers the onset of amyotrophic lateral sclerosis in mice expressing a mutant SOD1
    • Kong J, Xu Z. Massive mitochondrial degeneration in motor neurons triggers the onset of amyotrophic lateral sclerosis in mice expressing a mutant SOD1. J Neurosci 1998: 18: 3241-3250.
    • (1998) J. Neurosci. , vol.18 , pp. 3241-3250
    • Kong, J.1    Xu, Z.2
  • 245
    • 0029053881 scopus 로고
    • An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria
    • Wong PC, Pardo CA, Borchelt DR et al. An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria. Neuron 1995: 14: 1105-1116.
    • (1995) Neuron , vol.14 , pp. 1105-1116
    • Wong, P.C.1    Pardo, C.A.2    Borchelt, D.R.3
  • 246
    • 0033917463 scopus 로고    scopus 로고
    • Mitochondrial DNA abnormalities in skeletal muscle of patients with sporadic amyotrophic lateral sclerosis
    • Vielhaber S, Kunz D, Winkler K et al. Mitochondrial DNA abnormalities in skeletal muscle of patients with sporadic amyotrophic lateral sclerosis. Brain 2000: 123: 1339-1348.
    • (2000) Brain , vol.123 , pp. 1339-1348
    • Vielhaber, S.1    Kunz, D.2    Winkler, K.3
  • 247
    • 0031915174 scopus 로고    scopus 로고
    • Cytochrome-c oxidase subunit-I microdeletion in a patient with motor neuron disease
    • Comi GP, Bordoni A, Salani S et al. Cytochrome-c oxidase subunit-I microdeletion in a patient with motor neuron disease. Ann Neurol 1998: 43: 110-116.
    • (1998) Ann. Neurol. , vol.43 , pp. 110-116
    • Comi, G.P.1    Bordoni, A.2    Salani, S.3
  • 248
    • 0032779847 scopus 로고    scopus 로고
    • Manganese-containing superoxide dismutase signal sequence polymorphism associated with sporadic motor neuron disease
    • Van Landeghem GF, Tabatabaie P, Beckman G, Beckman L, Andersen PM. Manganese-containing superoxide dismutase signal sequence polymorphism associated with sporadic motor neuron disease. Eur J Neurol 1999: 6: 639-644.
    • (1999) Eur. J. Neurol. , vol.6 , pp. 639-644
    • Van Landeghem, G.F.1    Tabatabaie, P.2    Beckman, G.3    Beckman, L.4    Andersen, P.M.5
  • 249
    • 0031940986 scopus 로고    scopus 로고
    • A novel neurological phenotype in mice lacking mitochondrial manganese superoxide dismutase
    • Melov S, Schneider JA, Day BJ et al. A novel neurological phenotype in mice lacking mitochondrial manganese superoxide dismutase. Nat Genet 1998: 18: 159-163.
    • (1998) Nat. Genet. , vol.18 , pp. 159-163
    • Melov, S.1    Schneider, J.A.2    Day, B.J.3
  • 250
    • 0029894465 scopus 로고    scopus 로고
    • Protein inhibitor of mitochondrial ATP synthase: Relationship of inhibitor structure to pH-dependent regulation
    • Lebowitz MS, Pedersen PL. Protein inhibitor of mitochondrial ATP synthase: relationship of inhibitor structure to pH-dependent regulation. Arch Biochem Biophys 1996: 330: 342-354.
    • (1996) Arch. Biochem. Biophys. , vol.330 , pp. 342-354
    • Lebowitz, M.S.1    Pedersen, P.L.2
  • 251
    • 0032517807 scopus 로고    scopus 로고
    • Reduced mitochondrial manganese-superoxide dismutase activity exacerbates glutamate toxicity in cultured mouse cortical neurons
    • Li Y, Copin JC, Reola LF et al. Reduced mitochondrial manganese-superoxide dismutase activity exacerbates glutamate toxicity in cultured mouse cortical neurons. Brain Res 1998: 814: 164-170.
    • (1998) Brain Res. , vol.814 , pp. 164-170
    • Li, Y.1    Copin, J.C.2    Reola, L.F.3
  • 252
    • 0034113695 scopus 로고    scopus 로고
    • Partial deficiency of manganese superoxide dismutase exacerbates a transgenic mouse model of amyotrophic lateral sclerosis
    • Andreassen OA, Ferrante RJ, Klivenyi P et al. Partial deficiency of manganese superoxide dismutase exacerbates a transgenic mouse model of amyotrophic lateral sclerosis. Ann Neurol 2000: 47: 447-455.
    • (2000) Ann. Neurol. , vol.47 , pp. 447-455
    • Andreassen, O.A.1    Ferrante, R.J.2    Klivenyi, P.3
  • 253
    • 0034646410 scopus 로고    scopus 로고
    • Copper chaperone for superoxide dismutase is essential to activate mammalian Cu/Zn superoxide dismutase
    • Wong PC, Waggoner D, Subramaniam JR et al. Copper chaperone for superoxide dismutase is essential to activate mammalian Cu/Zn superoxide dismutase. Proc Natl Acad Sci USA 2000: 97: 2886-2891.
    • (2000) Proc. Natl. Acad. Sci. USA , vol.97 , pp. 2886-2891
    • Wong, P.C.1    Waggoner, D.2    Subramaniam, J.R.3
  • 254
    • 0032741787 scopus 로고    scopus 로고
    • Association of monoamine oxidase B alleles with age at onset in amyotrophic lateral sclerosis
    • Orru S, Mascia V, Casula M et al. Association of monoamine oxidase B alleles with age at onset in amyotrophic lateral sclerosis. Neuromuscul Disord 1999: 9: 593-597.
    • (1999) Neuromuscul. Disord. , vol.9 , pp. 593-597
    • Orru, S.1    Mascia, V.2    Casula, M.3
  • 255
    • 0032750753 scopus 로고    scopus 로고
    • Bax and Bcl-2 interaction in a transgenic mouse model of familial amyotrophic lateral sclerosis
    • Vukosavic S, Dubois-Dauphin M, Romero N, Przedborski S. Bax and Bcl-2 interaction in a transgenic mouse model of familial amyotrophic lateral sclerosis. J Neurochem 1999: 73: 2460-2468.
    • (1999) J. Neurochem. , vol.73 , pp. 2460-2468
    • Vukosavic, S.1    Dubois-Dauphin, M.2    Romero, N.3    Przedborski, S.4
  • 256
    • 0030606316 scopus 로고    scopus 로고
    • Induction of c-Jun immunoreactivity in spinal cord and brainstem neurons in a transgenic mouse model for amyotrophic lateral sclerosis
    • Jaarsma D, Holstege JC, Troost D et al. Induction of c-Jun immunoreactivity in spinal cord and brainstem neurons in a transgenic mouse model for amyotrophic lateral sclerosis. Neurosci Lett 1996: 219: 179-182.
    • (1996) Neurosci. Lett. , vol.219 , pp. 179-182
    • Jaarsma, D.1    Holstege, J.C.2    Troost, D.3
  • 257
    • 0028903269 scopus 로고
    • Induction of the immediate early gene c-jun in human spinal cord in amyotrophic lateral sclerosis with concomitant loss of NMDA receptor NR-1 and glycine transporter mRNA
    • Virgo L, de Belleroche J. Induction of the immediate early gene c-jun in human spinal cord in amyotrophic lateral sclerosis with concomitant loss of NMDA receptor NR-1 and glycine transporter mRNA. Brain Res 1995: 676: 196-204.
    • (1995) Brain Res. , vol.676 , pp. 196-204
    • Virgo, L.1    de Belleroche, J.2
  • 258
    • 0000442358 scopus 로고
    • Neuromuscular disorder associated with malignant neoplastic disease
    • Rowland LP. Neuromuscular disorder associated with malignant neoplastic disease. J Chron Dis 1963: 16: 777-795.
    • (1963) J. Chron. Dis. , vol.16 , pp. 777-795
    • Rowland, L.P.1
  • 259
    • 16044363366 scopus 로고    scopus 로고
    • Motor neuron disease, lymphoproliferative disease, and bone marrow biopsy
    • Louis ED, Hanley AE, Brannagan TH et al. Motor neuron disease, lymphoproliferative disease, and bone marrow biopsy. Muscle Nerve 1996: 19: 1334-1337.
    • (1996) Muscle Nerve , vol.19 , pp. 1334-1337
    • Louis, E.D.1    Hanley, A.E.2    Brannagan, T.H.3
  • 260
    • 0030860019 scopus 로고    scopus 로고
    • Lymphoproliferative disorders and motor neuron disease: An update
    • Gordon PH, Rowland LP, Younger DS et al. Lymphoproliferative disorders and motor neuron disease: an update. Neurology 1997: 48: 1671-1678.
    • (1997) Neurology , vol.48 , pp. 1671-1678
    • Gordon, P.H.1    Rowland, L.P.2    Younger, D.S.3
  • 261
    • 0025339377 scopus 로고
    • Human interleukin 2 receptor beta-chain gene chromosomal localization and identification of 5′ regulatory sequences
    • Gnarra JR, Otani H, Wang MG, McBride OW, Sharon M, Leonard WJ. Human interleukin 2 receptor beta-chain gene. chromosomal localization and identification of 5′ regulatory sequences. Proc Natl Acad Sci USA 1990: 87: 3440-3444.
    • (1990) Proc. Natl. Acad. Sci. USA , vol.87 , pp. 3440-3444
    • Gnarra, J.R.1    Otani, H.2    Wang, M.G.3    McBride, O.W.4    Sharon, M.5    Leonard, W.J.6
  • 262
    • 0028913006 scopus 로고
    • Sporadic ALS and chromosome 22: Evidence for a possible neurofilament gene defect
    • Meyer MA, Potter NT. Sporadic ALS and chromosome 22: evidence for a possible neurofilament gene defect. Muscle Nerve 1995: 18: 536-539.
    • (1995) Muscle Nerve , vol.18 , pp. 536-539
    • Meyer, M.A.1    Potter, N.T.2
  • 263
    • 0013891783 scopus 로고
    • Blood group investigations on the Carolinians and Chamorros of Saipan
    • Plato CC, Rucknagel DL, Kurland LT. Blood group investigations on the Carolinians and Chamorros of Saipan. Am J Phys Anthropol 1966: 24: 147-154.
    • (1966) Am. J. Phys. Anthropol. , vol.24 , pp. 147-154
    • Plato, C.C.1    Rucknagel, D.L.2    Kurland, L.T.3
  • 264
    • 0015436845 scopus 로고
    • Population studies in northern Sweden. III. Variations of ABO and Rh blood group gene frequencies in time and space
    • Beckman L, Cedergren B, Collinder E, Rasmuson M. Population studies in northern Sweden. III. Variations of ABO and Rh blood group gene frequencies in time and space. Hereditas 1972: 72: 183-200.
    • (1972) Hereditas , vol.72 , pp. 183-200
    • Beckman, L.1    Cedergren, B.2    Collinder, E.3    Rasmuson, M.4
  • 265
    • 0024760708 scopus 로고
    • Structural similarities between ganglioside GM1 and antigens of the P2 phenotype
    • Meyer MA, Poduslo JF, Kurland LT. Structural similarities between ganglioside GM1 and antigens of the P2 phenotype. Ann Neurol 1989: 26: 693-694.
    • (1989) Ann. Neurol. , vol.26 , pp. 693-694
    • Meyer, M.A.1    Poduslo, J.F.2    Kurland, L.T.3
  • 266
    • 0034701007 scopus 로고    scopus 로고
    • Potential role of LIF as a modifier gene in the pathogenesis of amyotrophic lateral sclerosis
    • Giess R, Beck M, Goetz R, Nitsch RM, Toyka KV, Sendtner M. Potential role of LIF as a modifier gene in the pathogenesis of amyotrophic lateral sclerosis. Neurology 2000: 54: 1003-1005.
    • (2000) Neurology , vol.54 , pp. 1003-1005
    • Giess, R.1    Beck, M.2    Goetz, R.3    Nitsch, R.M.4    Toyka, K.V.5    Sendtner, M.6
  • 267
    • 0034978562 scopus 로고    scopus 로고
    • Deletion of the hypoxia-response element in the vascular endothelial growth factor promoter causes motor neuron degeneration
    • Oosthuyse B, Moons L, Storkebaum E et al. Deletion of the hypoxia-response element in the vascular endothelial growth factor promoter causes motor neuron degeneration. Nat Genet 2001: 28: 131-138.
    • (2001) Nat. Genet. , vol.28 , pp. 131-138
    • Oosthuyse, B.1    Moons, L.2    Storkebaum, E.3
  • 269
    • 0018404316 scopus 로고
    • Neurofibrillary degeneration on Guam: Frequency in Chamorros and non Chamorros with no known neurological disease
    • Anderson FH, Richardson EP Jr, Okazaki H, Brody JA. Neurofibrillary degeneration on Guam: frequency in Chamorros and non Chamorros with no known neurological disease. Brain 1979: 102: 65-77.
    • (1979) Brain , vol.102 , pp. 65-77
    • Anderson, F.H.1    Richardson E.P., Jr.2    Okazaki, H.3    Brody, J.A.4
  • 270
    • 0028957084 scopus 로고
    • Neurofibrillary degeneration in amyotrophic lateral sclerosis/parkinsonism-dementia complex of Guam. Immunochemical characterization of tau proteins
    • Buee-Scherrer V, Buee L, Hof PR et al. Neurofibrillary degeneration in amyotrophic lateral sclerosis/parkinsonism-dementia complex of Guam. Immunochemical characterization of tau proteins. Am J Pathol 1995: 146: 924-932.
    • (1995) Am. J. Pathol. , vol.146 , pp. 924-932
    • Buee-Scherrer, V.1    Buee, L.2    Hof, P.R.3
  • 271
    • 0030697195 scopus 로고    scopus 로고
    • Genetic epidemiology of Alzheimer disease
    • Slooter AJ, van Duijn CM. Genetic epidemiology of Alzheimer disease. Epidemiol Rev 1997: 19: 107-119.
    • (1997) Epidemiol. Rev. , vol.19 , pp. 107-119
    • Slooter, A.J.1    van Duijn, C.M.2
  • 272
    • 0034513218 scopus 로고    scopus 로고
    • Fatal attractions of proteins. A comprehensive hypothetical mechanism underlying Alzheimer's disease and other neurodegenerative disorders
    • Trojanowski JQ, Lee VM. Fatal attractions of proteins. A comprehensive hypothetical mechanism underlying Alzheimer's disease and other neurodegenerative disorders. Ann N Y Acad Sci 2000: 924: 62-67.
    • (2000) Ann. N. Y. Acad. Sci. , vol.924 , pp. 62-67
    • Trojanowski, J.Q.1    Lee, V.M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.