메뉴 건너뛰기




Volumn 19, Issue 4, 1999, Pages 407-418

Genetic disorders of motor neurons

Author keywords

Amyotrophic lateral sclerosis; Genes; Genetics; Kennedy disease; Motor neuron disorders; Neurodegeneration; Spinal muscular atrophy

Indexed keywords

ALPHA TOCOPHEROL; ANTIOXIDANT; ASCORBIC ACID; CASPASE INHIBITOR; CHELATING AGENT; COPPER; CREATINE; GABAPENTIN; GENISTEIN; GLUTATHIONE PEROXIDASE; RILUZOLE; TRIENTINE;

EID: 0033381436     PISSN: 02718235     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1040855     Document Type: Review
Times cited : (18)

References (123)
  • 2
    • 0015170146 scopus 로고
    • The nosology of the spinal muscular atrophies
    • Emery AEH. The nosology of the spinal muscular atrophies. J Med Genet 1971;8:481-495
    • (1971) J Med Genet , vol.8 , pp. 481-495
    • Emery, A.E.H.1
  • 3
    • 0030130574 scopus 로고    scopus 로고
    • The neurobiology of childhood spinal muscular atrophy
    • Crawford TO, Pardo CA. The neurobiology of childhood spinal muscular atrophy. Neurobiol Dis 1996;3:97-110
    • (1996) Neurobiol Dis , vol.3 , pp. 97-110
    • Crawford, T.O.1    Pardo, C.A.2
  • 4
    • 0343481145 scopus 로고
    • Genetic mapping of chronic childhood onset spinal muscular atrophy to chromosome 5q11.2-13.3
    • Brzustowicz LM, Lehner T, Castilla LH, et al. Genetic mapping of chronic childhood onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 1990;345:823-825
    • (1990) Nature , vol.345 , pp. 823-825
    • Brzustowicz, L.M.1    Lehner, T.2    Castilla, L.H.3
  • 6
    • 0343267780 scopus 로고    scopus 로고
    • Structure and organization of the human survival motor neurone (SMN) gene
    • Burglen L, Lefebvre S, Clement O, et al. Structure and organization of the human survival motor neurone (SMN) gene. Genomics 1996;32:479-482
    • (1996) Genomics , vol.32 , pp. 479-482
    • Burglen, L.1    Lefebvre, S.2    Clement, O.3
  • 7
    • 0028797783 scopus 로고
    • Identification and characterization of a spinal muscular atrophy-determining gene
    • Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-165
    • (1995) Cell , vol.80 , pp. 155-165
    • Lefebvre, S.1    Burglen, L.2    Reboullet, S.3
  • 9
    • 0030981541 scopus 로고    scopus 로고
    • Correlation between severity and SMN protein level in spinal muscular atrophy
    • Lefebvre S, Burlet P, Liu Q, et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nature Genet 1997;16:265-269
    • (1997) Nature Genet , vol.16 , pp. 265-269
    • Lefebvre, S.1    Burlet, P.2    Liu, Q.3
  • 10
    • 0031759799 scopus 로고    scopus 로고
    • Characterization of a gene encoding survival motor neurons (SMN)-related protein, a constituent of the spliceosome complex
    • Talbot K, Miguel-Ahaga I, Mohaghegh P, Ponting CP, Davies KE. Characterization of a gene encoding survival motor neurons (SMN)-related protein, a constituent of the spliceosome complex. Hum Mol Genet 1998;7:2149-2156
    • (1998) Hum Mol Genet , vol.7 , pp. 2149-2156
    • Talbot, K.1    Miguel-Ahaga, I.2    Mohaghegh, P.3    Ponting, C.P.4    Davies, K.E.5
  • 11
    • 0032933619 scopus 로고    scopus 로고
    • Spinal muscular atrophy: Untangling the knot?
    • Biros I, Forrest S. Spinal muscular atrophy: Untangling the knot? J Med Genet 1999;36(1):1-8
    • (1999) J Med Genet , vol.36 , Issue.1 , pp. 1-8
    • Biros, I.1    Forrest, S.2
  • 12
    • 0033005549 scopus 로고    scopus 로고
    • Spinal muscular atrophy
    • Talbot K. Spinal muscular atrophy. J Inherit Metab Dis 1999;22 (4):545-554
    • (1999) J Inherit Metab Dis , vol.22 , Issue.4 , pp. 545-554
    • Talbot, K.1
  • 13
    • 0029954338 scopus 로고    scopus 로고
    • A novel nuclear structure containing the survival of motor neurons protein
    • Liu Q, Dreyfuss G. A novel nuclear structure containing the survival of motor neurons protein. EMBO J 1996; 15:3555-3565
    • (1996) EMBO J , vol.15 , pp. 3555-3565
    • Liu, Q.1    Dreyfuss, G.2
  • 14
    • 0026082099 scopus 로고
    • Immunological and ultrastructural studies of Werdnig-Hoffmann disease
    • Murayama S, Bouldin TW, Suzuki K. Immunological and ultrastructural studies of Werdnig-Hoffmann disease. Acta Neuropathol 1991;81:408-417
    • (1991) Acta Neuropathol , vol.81 , pp. 408-417
    • Murayama, S.1    Bouldin, T.W.2    Suzuki, K.3
  • 15
    • 0030931727 scopus 로고    scopus 로고
    • The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal sn RNP proteins
    • Liu Q, Fisher U, Wang F, Dreyfuss G. The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal sn RNP proteins. Cell 1997;90:1013-1021
    • (1997) Cell , vol.90 , pp. 1013-1021
    • Liu, Q.1    Fisher, U.2    Wang, F.3    Dreyfuss, G.4
  • 16
    • 0030928716 scopus 로고    scopus 로고
    • The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis
    • Fisher U, Liu Q, Dreyfuss G. The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. Cell 1997;90: 1023-1029
    • (1997) Cell , vol.90 , pp. 1023-1029
    • Fisher, U.1    Liu, Q.2    Dreyfuss, G.3
  • 17
    • 0032567036 scopus 로고    scopus 로고
    • A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing
    • Pellizzoni I, Kataoka N, Charroux B, Dreyfuss G. A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing. Cell 1998;95:615-624
    • (1998) Cell , vol.95 , pp. 615-624
    • Pellizzoni, I.1    Kataoka, N.2    Charroux, B.3    Dreyfuss, G.4
  • 19
    • 0031442184 scopus 로고    scopus 로고
    • Synergistic anti-apopotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy
    • Iwahashi H, Eguchi Y, Yasuhara N, Hanafusa T, Matsuzawa Y, Tsujimoto Y. Synergistic anti-apopotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy. Nature 1997;390:413-417
    • (1997) Nature , vol.390 , pp. 413-417
    • Iwahashi, H.1    Eguchi, Y.2    Yasuhara, N.3    Hanafusa, T.4    Matsuzawa, Y.5    Tsujimoto, Y.6
  • 20
    • 0028922174 scopus 로고
    • PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy
    • Van der Steege G, Grootscholten PM, van der Vlies P, et al. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 1995;345:985-986
    • (1995) Lancet , vol.345 , pp. 985-986
    • Van Der Steege, G.1    Grootscholten, P.M.2    Van Der Vlies, P.3
  • 21
    • 0033033434 scopus 로고    scopus 로고
    • A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
    • Lorson CL, Hahnen E, Androphy EJ, Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci USA 1999; 96(11):6307-6311
    • (1999) Proc Natl Acad Sci USA , vol.96 , Issue.11 , pp. 6307-6311
    • Lorson, C.L.1    Hahnen, E.2    Androphy, E.J.3    Wirth, B.4
  • 22
    • 0032799998 scopus 로고    scopus 로고
    • A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
    • Monani UR, Losen CL, Parsons DW, Prior TW, Androphy EJ, Burghes AH, McPherson JD. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 1999;8(7): 1177-1183
    • (1999) Hum Mol Genet , vol.8 , Issue.7 , pp. 1177-1183
    • Monani, U.R.1    Losen, C.L.2    Parsons, D.W.3    Prior, T.W.4    Androphy, E.J.5    Burghes, A.H.6    McPherson, J.D.7
  • 23
    • 0029147787 scopus 로고
    • Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients
    • Gennarelli M, Lucarelli M, Capon F, et al. Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Biochem Biophys Res Commun 1995;213:342-348
    • (1995) Biochem Biophys Res Commun , vol.213 , pp. 342-348
    • Gennarelli, M.1    Lucarelli, M.2    Capon, F.3
  • 24
    • 0031734722 scopus 로고    scopus 로고
    • Correlation of SMN1 and SMNc gene copy number with age of onset and survival in spinal muscular atrophy
    • Taylor JE, Thomas NH, Lewis CM, et al. Correlation of SMN1 and SMNc gene copy number with age of onset and survival in spinal muscular atrophy. Eur J Hum Genet 1998;6:467-474
    • (1998) Eur J Hum Genet , vol.6 , pp. 467-474
    • Taylor, J.E.1    Thomas, N.H.2    Lewis, C.M.3
  • 25
    • 0030818315 scopus 로고    scopus 로고
    • Genome variation and gene conversion in spinal muscular atrophy: Implications for disease process and clinical phenotype
    • Campbell L, Potter A, Ignatius J, Dibowitz V, Davies K. Genome variation and gene conversion in spinal muscular atrophy: Implications for disease process and clinical phenotype. Am J Hum Genet 1997;61:40-50
    • (1997) Am J Hum Genet , vol.61 , pp. 40-50
    • Campbell, L.1    Potter, A.2    Ignatius, J.3    Dibowitz, V.4    Davies, K.5
  • 26
    • 0030047445 scopus 로고    scopus 로고
    • Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype
    • Velasco E, Valero C, Valero A, Moreno F, Hernandez-Chico C. Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype. Hum Mol Genet 1996;5:257-263
    • (1996) Hum Mol Genet , vol.5 , pp. 257-263
    • Velasco, E.1    Valero, C.2    Valero, A.3    Moreno, F.4    Hernandez-Chico, C.5
  • 27
    • 0032953864 scopus 로고    scopus 로고
    • Spinal muscular atrophy: Molecular pathophysiology
    • Gendron NH, Mc Kenzie AE. Spinal muscular atrophy: Molecular pathophysiology. Curr Opinion Neurol 1999; 12:137-142
    • (1999) Curr Opinion Neurol , vol.12 , pp. 137-142
    • Gendron, N.H.1    Mc Kenzie, A.E.2
  • 28
    • 0028896092 scopus 로고
    • The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy
    • Roy N, Mahadevan MS, Mc Lean M, et al. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 1995;80:167-178
    • (1995) Cell , vol.80 , pp. 167-178
    • Roy, N.1    Mahadevan, M.S.2    Mc Lean, M.3
  • 29
    • 0033058289 scopus 로고    scopus 로고
    • Deletions causing spinal muscular atrophy do not predispose to amyotrophic lateral sclerosis
    • 29. Parboosingh JS, Meininger V, McKenna-Yasek D, Brown RH Jr, Rouleau GA. Deletions causing spinal muscular atrophy do not predispose to amyotrophic lateral sclerosis. Arch Neurol 1999;56(6):710-712
    • (1999) Arch Neurol , vol.56 , Issue.6 , pp. 710-712
    • Parboosingh, J.S.1    Meininger, V.2    McKenna-Yasek, D.3    Brown Rh Rouleau G.A., Jr.4
  • 30
    • 0031710558 scopus 로고    scopus 로고
    • Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics
    • 30. Scharf JM, Endrizzi MG, Wetter A, et al. Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. Nat Genet 1998;20(1):83-86
    • (1998) Nat Genet , vol.20 , Issue.1 , pp. 83-86
    • Scharf, J.M.1    Endrizzi, M.G.2    Wetter, A.3
  • 31
    • 0021169517 scopus 로고
    • Spinal muscular atrophy: Experience in diagnosis and rehabilitation of 60 patients
    • Eng GD, Binder H, Koch B. Spinal muscular atrophy: Experience in diagnosis and rehabilitation of 60 patients. Arch Phys Med Rehabil 1984;65:549-553
    • (1984) Arch Phys Med Rehabil , vol.65 , pp. 549-553
    • Eng, G.D.1    Binder, H.2    Koch, B.3
  • 33
    • 0030848204 scopus 로고    scopus 로고
    • Clinical aspects of CAG repeat diseases
    • Nance MA. Clinical aspects of CAG repeat diseases. Brain Pathol 1997;3:881-900
    • (1997) Brain Pathol , vol.3 , pp. 881-900
    • Nance, M.A.1
  • 34
    • 0030470459 scopus 로고    scopus 로고
    • Glutamine repeats and inherited neurodegenerative diseases: Molecular aspects
    • Perutz MF. Glutamine repeats and inherited neurodegenerative diseases: Molecular aspects. Curr Opin Struct Biol 1996;6: 848-858
    • (1996) Curr Opin Struct Biol , vol.6 , pp. 848-858
    • Perutz, M.F.1
  • 35
    • 0029089172 scopus 로고
    • When more is less: Pathogenesis of glutamine repeat neurodegenerative diseases
    • Ross CA. When more is less: Pathogenesis of glutamine repeat neurodegenerative diseases. Neuron 1995;15:493-496
    • (1995) Neuron , vol.15 , pp. 493-496
    • Ross, C.A.1
  • 36
    • 0033041668 scopus 로고    scopus 로고
    • Assessment of upper and lower motor neurons in Kennedy's disease: Implications for corticomotoneuronal PSTH studies
    • Markus W, Eisen A. Assessment of upper and lower motor neurons in Kennedy's disease: Implications for corticomotoneuronal PSTH studies. Muscle and Nerve 1999;22:299-306
    • (1999) Muscle and Nerve , vol.22 , pp. 299-306
    • Markus, W.1    Eisen, A.2
  • 37
    • 0025800526 scopus 로고
    • Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
    • La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fishbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991;352:77-79
    • (1991) Nature , vol.352 , pp. 77-79
    • La Spada, A.R.1    Wilson, E.M.2    Lubahn, D.B.3    Harding, A.E.4    Fishbeck, K.H.5
  • 38
    • 15144342225 scopus 로고    scopus 로고
    • Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy
    • 38. Li M, Miwa S, Kobayashi Y, et al. Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy. Ann Neurol 1998;44(2):249-254
    • (1998) Ann Neurol , vol.44 , Issue.2 , pp. 249-254
    • Li, M.1    Miwa, S.2    Kobayashi, Y.3
  • 39
    • 0033109555 scopus 로고    scopus 로고
    • In vitro aggregation and cellular toxicity of mutant androgen receptor protein in spinal and bulbar muscular atrophy
    • 39. Kobayashi Y, Li M, Sobue G. In vitro aggregation and cellular toxicity of mutant androgen receptor protein in spinal and bulbar muscular atrophy. Nippon Rinsho 1999;57(4):874-879
    • (1999) Nippon Rinsho , vol.57 , Issue.4 , pp. 874-879
    • Kobayashi, Y.1    Li, M.2    Sobue, G.3
  • 41
    • 0032898311 scopus 로고    scopus 로고
    • Kennedy's disease: Caspase cleavage of the androgen receptor is a crucial event in cytotoxicity
    • 41. Ellerby LM, Hackam AS, Propp SS, et al. Kennedy's disease: Caspase cleavage of the androgen receptor is a crucial event in cytotoxicity. J Neurochem 1999;72(1):185-195
    • (1999) J Neurochem , vol.72 , Issue.1 , pp. 185-195
    • Ellerby, L.M.1    Hackam, A.S.2    Propp, S.S.3
  • 42
    • 0033575213 scopus 로고    scopus 로고
    • The linkage of Kennedy's disease to ARA24, the first identified androgen receptor polyglutamine region-associated coactivator
    • 42. Hsiao P-W, Lin DL, Nakao R, Chang C. The linkage of Kennedy's disease to ARA24, the first identified androgen receptor polyglutamine region-associated coactivator. J Biol Chem 1999;274(29):20229-20234
    • (1999) J Biol Chem , vol.274 , Issue.29 , pp. 20229-20234
    • Hsiao, P.-W.1    Lin, D.L.2    Nakao, R.3    Chang, C.4
  • 44
    • 0002383106 scopus 로고
    • Implication of incidence and geographical patterns on the classification of amyotrophic lateral sclerosis
    • Norris FH, Kurland LT, eds. New York: Grune and Stratton
    • Kurland LT, Choi NW, Sayre GP. Implication of incidence and geographical patterns on the classification of amyotrophic lateral sclerosis. In: Norris FH, Kurland LT, eds. Motor Neuron Disease: Research on Amyotrophic Lateral Sclerosis and Related Disorders. New York: Grune and Stratton, 1969: 28-50
    • (1969) Motor Neuron Disease: Research on Amyotrophic Lateral Sclerosis and Related Disorders , pp. 28-50
    • Kurland, L.T.1    Choi, N.W.2    Sayre, G.P.3
  • 45
    • 0021927646 scopus 로고
    • Amyotrophic lateral sclerosis: A study of its presentation and prognosis
    • Gubbay SS, Kahana E, Zilber N, et al. Amyotrophic lateral sclerosis: A study of its presentation and prognosis. J Neurol 1985;232:295-300
    • (1985) J Neurol , vol.232 , pp. 295-300
    • Gubbay, S.S.1    Kahana, E.2    Zilber, N.3
  • 46
    • 0343045306 scopus 로고
    • Adult spinal motor neuron disease
    • Vinen PJ, Bruyn GW, eds. New York: American Elsevier
    • Norris FH. Adult spinal motor neuron disease. In: Vinen PJ, Bruyn GW, eds. Handbook of Clinical Neurology. New York: American Elsevier, 1975:1-56
    • (1975) Handbook of Clinical Neurology , pp. 1-56
    • Norris, F.H.1
  • 47
    • 0019419755 scopus 로고
    • An eye movement disorder in amyotrophic lateral sclerosis
    • Jacobs L, Bozian D, Heffner RR Jr, et al. An eye movement disorder in amyotrophic lateral sclerosis. Neurology 1981;31: 1282-1287
    • (1981) Neurology , vol.31 , pp. 1282-1287
    • Jacobs, L.1    Bozian, D.2    Heffner R.R., Jr.3
  • 48
    • 0021167918 scopus 로고
    • Fine structural observations of neurofilamentous changes in amyotrophic lateral sclerosis
    • Hirano A, Donnenfeld H, Sasaki S, et al. Fine structural observations of neurofilamentous changes in amyotrophic lateral sclerosis. J Neuropathol Exp Neurol 1984;43:461-470
    • (1984) J Neuropathol Exp Neurol , vol.43 , pp. 461-470
    • Hirano, A.1    Donnenfeld, H.2    Sasaki, S.3
  • 49
    • 0026042995 scopus 로고
    • Cytopathology of amyotrophic lateral sclerosis
    • Hirano A. Cytopathology of amyotrophic lateral sclerosis. Adv Neurol 1991;56:91-101
    • (1991) Adv Neurol , vol.56 , pp. 91-101
    • Hirano, A.1
  • 50
    • 0001569821 scopus 로고
    • Natural history and clinical features of amyotrophic lateral sclerosis and related motor neuron diseases
    • Calin DB, ed.
    • Rowland LP. Natural history and clinical features of amyotrophic lateral sclerosis and related motor neuron diseases. In: Calin DB, ed. Neurodegenerative Diseases. Philadelphia: WB Saunders, 1994;507-521
    • (1994) Neurodegenerative Diseases. Philadelphia: Wb Saunders , pp. 507-521
    • Rowland, L.P.1
  • 51
    • 0024502246 scopus 로고
    • Lewy body-like hyaline inclusions in sporadic motor neuron disease are ubiquinated
    • Kato T, Katagiri T, Hirano A, Kawanami T, Sasaki H. Lewy body-like hyaline inclusions in sporadic motor neuron disease are ubiquinated. Acta Neuropathol 1989;77:391-396
    • (1989) Acta Neuropathol , vol.77 , pp. 391-396
    • Kato, T.1    Katagiri, T.2    Hirano, A.3    Kawanami, T.4    Sasaki, H.5
  • 52
    • 0017690745 scopus 로고
    • Preservation of a certain motoneurone group of the sacral cord in amyotrophic lateral sclerosis: Its clinical significance
    • Mannen T, Iwata M, Toyokura Y, et al. Preservation of a certain motoneurone group of the sacral cord in amyotrophic lateral sclerosis: Its clinical significance. J Neurol Neurosurg Psychiatry 1977;40:464-469
    • (1977) J Neurol Neurosurg Psychiatry , vol.40 , pp. 464-469
    • Mannen, T.1    Iwata, M.2    Toyokura, Y.3
  • 53
    • 0020392683 scopus 로고
    • Familial motor neuron disease
    • Howland LP, ed. New York: Raven Press
    • Emery AEH, Holloway S. Familial motor neuron disease. In: Howland LP, ed. Human Motor Neuron Disease. New York: Raven Press, 1982;139:147
    • (1982) Human Motor Neuron Disease , vol.139 , pp. 147
    • Emery, A.E.H.1    Holloway, S.2
  • 54
    • 0024334904 scopus 로고
    • Linkage analysis in familial amyotrophic lateral sclerosis
    • Siddique T, Pericak-Vance MA, Brooks BR. Linkage analysis in familial amyotrophic lateral sclerosis. Neurology 1989;39:919-925
    • (1989) Neurology , vol.39 , pp. 919-925
    • Siddique, T.1    Pericak-Vance, M.A.2    Brooks, B.R.3
  • 55
    • 0026002405 scopus 로고
    • Molecular genetics of familial amyotrophic lateral sclerosis
    • Siddique T. Molecular genetics of familial amyotrophic lateral sclerosis. Adv Neurol 1991;56:227-231
    • (1991) Adv Neurol , vol.56 , pp. 227-231
    • Siddique, T.1
  • 56
    • 0006604867 scopus 로고    scopus 로고
    • X-linked dominant locus for late-onset familial amyotrophic lateral sclerosis
    • Hong S, Brooks BR, Hung WY, et al. X-linked dominant locus for late-onset familial amyotrophic lateral sclerosis. Soc Neurosci Abst 1998;24:478
    • (1998) Soc Neurosci Abst , vol.24 , pp. 478
    • Hong, S.1    Brooks, B.R.2    Hung, W.Y.3
  • 57
    • 0025237394 scopus 로고
    • Heriditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis): Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy
    • Ben Hamida M, Hentati F, Ben Hamida C. Heriditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis): Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy. Brain 1990;113:347-363
    • (1990) Brain , vol.113 , pp. 347-363
    • Ben Hamida, M.1    Hentati, F.2    Ben Hamida, C.3
  • 58
    • 0027401203 scopus 로고
    • Mutations in CuZn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
    • [published erratum appears in Nature 1993;364(6435):362]
    • Rosen DR, Siddique T, Patterson D, et al. Mutations in CuZn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis [published erratum appears in Nature 1993;364(6435):362] Nature 1993;362:59-62
    • (1993) Nature , vol.362 , pp. 59-62
    • Rosen, D.R.1    Siddique, T.2    Patterson, D.3
  • 59
    • 0027426169 scopus 로고
    • Amyotrophic lateral sclerosis and structural defects in CuZn superoxide dismutase
    • Deng HX, Hentati A, Tainer JA, et al. Amyotrophic lateral sclerosis and structural defects in CuZn superoxide dismutase. Science 1993;261:1047-1051
    • (1993) Science , vol.261 , pp. 1047-1051
    • Deng, H.X.1    Hentati, A.2    Tainer, J.A.3
  • 60
    • 14444268768 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis: Insights from genetics
    • Brown RH Jr. Amyotrophic lateral sclerosis: Insights from genetics. Arch Neurol 1997;54:1246-1250
    • (1997) Arch Neurol , vol.54 , pp. 1246-1250
    • Brown R.H., Jr.1
  • 61
    • 85038059586 scopus 로고
    • Superoxide dismutase is an abundant component in cell bodies, dendrites, and axons of motor neurons and in a subset of other neurons
    • Pardo Ca, Xu Z, Borchelt DR, et al. Superoxide dismutase is an abundant component in cell bodies, dendrites, and axons of motor neurons and in a subset of other neurons. Proc Natl Acad Sci 1995;89:6109-6113
    • (1995) Proc Natl Acad Sci , vol.89 , pp. 6109-6113
    • Pardo, C.1    Xu, Z.2    Borchelt, D.R.3
  • 62
    • 0024411652 scopus 로고
    • Evolution of CuZn superoxide dismutase and the Greek key β-Barrel structural motif
    • Getzoff ED, Tainer JA, Stempien MM, et al. Evolution of CuZn superoxide dismutase and the Greek key β-Barrel structural motif. Proteins Struct Funct Genet 1989;5:322-336
    • (1989) Proteins Struct Funct Genet , vol.5 , pp. 322-336
    • Getzoff, E.D.1    Tainer, J.A.2    Stempien, M.M.3
  • 63
    • 0007546114 scopus 로고
    • The human CuZn superoxide dismutase gene family: Architecture and expression of the chromosome 21-encoded functional gene and its processed pseudogenes
    • Rotilis G, ed. Amsterdam: Elesiever
    • Groner Y, Gieman-Hurwitz J, Dafri N, et al. The human CuZn superoxide dismutase gene family: Architecture and expression of the chromosome 21-encoded functional gene and its processed pseudogenes. In: Rotilis G, ed. Superoxide and Superoxide Dismutase in Chemistry, Biology and Medicine. Amsterdam: Elesiever, 1986
    • (1986) Superoxide and Superoxide Dismutase in Chemistry, Biology and Medicine
    • Groner, Y.1    Gieman-Hurwitz, J.2    Dafri, N.3
  • 64
    • 0028814736 scopus 로고
    • Absence of mutations in Mn superoxide dismutase or catalase genes in familial amyotrophic lateral sclerosis
    • Parboosingh JS, Rouleau GA, Meninger V, et al. Absence of mutations in Mn superoxide dismutase or catalase genes in familial amyotrophic lateral sclerosis. Neuromusc Disord 1995;5: 7-10
    • (1995) Neuromusc Disord , vol.5 , pp. 7-10
    • Parboosingh, J.S.1    Rouleau, G.A.2    Meninger, V.3
  • 65
    • 0031015422 scopus 로고    scopus 로고
    • Prognosis in familial ALS: Progression and survival in patients with E100G and A4V mutations in CuZn superoxide dismutase
    • Juneja T, Pericak-Vance M, Laing NG, et al. Prognosis in familial ALS: Progression and survival in patients with E100G and A4V mutations in CuZn superoxide dismutase. Neurology 1997;48:55-57
    • (1997) Neurology , vol.48 , pp. 55-57
    • Juneja, T.1    Pericak-Vance, M.2    Laing, N.G.3
  • 66
    • 0028168971 scopus 로고
    • Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in CuZn superoxide dismutase gene: A possible new subtype of familial ALS
    • Aoki M, Ogasawara M, Matsubara Y, et al. Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in CuZn superoxide dismutase gene: A possible new subtype of familial ALS. J Neurol Sci 1994;126:77-83
    • (1994) J Neurol Sci , vol.126 , pp. 77-83
    • Aoki, M.1    Ogasawara, M.2    Matsubara, Y.3
  • 67
    • 0032414948 scopus 로고    scopus 로고
    • Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers
    • Hentati A, Ouahchi K, Pericak-Vance MA, et al. Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. Neurogenetics 1998;2(1): 55-60
    • (1998) Neurogenetics , vol.2 , Issue.1 , pp. 55-60
    • Hentati, A.1    Ouahchi, K.2    Pericak-Vance, M.A.3
  • 68
    • 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
  • 69
    • 0032443063 scopus 로고    scopus 로고
    • Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33
    • Hosler BA, Sapp PC, Berger R, et al. Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33. Neurogenetics 1998;2(1):34-42
    • (1998) Neurogenetics , vol.2 , Issue.1 , pp. 34-42
    • Hosler, B.A.1    Sapp, P.C.2    Berger, R.3
  • 70
    • 0031959591 scopus 로고    scopus 로고
    • Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34
    • Chance PF, Rabin BA, Ryan SG, et al. Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. Am J Hum Genet 1998;62(3): 633-640
    • (1998) Am J Hum Genet , vol.62 , Issue.3 , pp. 633-640
    • Chance, P.F.1    Rabin, B.A.2    Ryan, S.G.3
  • 71
    • 0028001606 scopus 로고
    • Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis
    • Figlewicz DA, Krizus K, Martinoli MG. 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, K.2    Martinoli, M.G.3
  • 72
    • 0031915174 scopus 로고    scopus 로고
    • Cytochrome c oxidase subunit1 microdeletion in a patient with motor neuron disease
    • Comi GP, Bordoni A, Salani S, et al. Cytochrome c oxidase subunit1 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
  • 73
    • 0033009789 scopus 로고    scopus 로고
    • Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis
    • Hayward C, Colville S, Swingler RJ, Brook DJH. 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    Brook, D.J.H.4
  • 74
    • 0027424206 scopus 로고
    • Polymorphism in the multi-phosphorylation domain of the human neurofilament heavy-subunit-encoding gene
    • Figlewicz DA, Rouleau GA, Krizus A, Julien JP. Polymorphism in the multi-phosphorylation domain of the human neurofilament heavy-subunit-encoding gene. Gene 1993; 132:297-300
    • (1993) Gene , vol.132 , pp. 297-300
    • Figlewicz, D.A.1    Rouleau, G.A.2    Krizus, A.3    Julien, J.P.4
  • 75
    • 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(2):157-164
    • (1999) Hum Mol Genet , vol.8 , Issue.2 , pp. 157-164
    • Al-Chalabi, A.1    Andersen, P.M.2    Nilsson, P.3
  • 76
    • 0029970685 scopus 로고    scopus 로고
    • Sequence variants in human neurofilament proteins: Absence of linkage to familial amyotrophic lateral sclerosis
    • Vechio JD, Bruijn LI, Zuoshang X, Brown RH, Cleveland DW. Sequence variants in human neurofilament proteins: Absence of linkage to familial amyotrophic lateral sclerosis. Ann Neurol 1996;40:603-610
    • (1996) Ann Neurol , vol.40 , pp. 603-610
    • Vechio, J.D.1    Bruijn, L.I.2    Zuoshang, X.3    Brown, R.H.4    Cleveland, D.W.5
  • 77
    • 0028284779 scopus 로고
    • Motor neuron degeneration in mice that express a human CuZn superoxide dismutase mutation
    • Gurney ME, Pu H, Chiu AY, et al. Motor neuron degeneration in mice that express a human CuZn 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
  • 78
    • 0028355079 scopus 로고
    • Transgenic and knock-out mice: Models of neurological disease
    • Aguzzi A, Brander S, Sure U, Ruedi D, Isenmann S. Transgenic and knock-out mice: Models of neurological disease. Brain Pathol 1994;4(1):3-20
    • (1994) Brain Pathol , vol.4 , Issue.1 , pp. 3-20
    • Aguzzi, A.1    Brander, S.2    Sure, U.3    Ruedi, D.4    Isenmann, S.5
  • 79
    • 0032223786 scopus 로고    scopus 로고
    • Familial amyotrophic lateral sclerosis and Alzheimer's disease. Transgenic models
    • Wong PC, Borchelt DR, Lee MK, et al. Familial amyotrophic lateral sclerosis and Alzheimer's disease. Transgenic models. Adv Exp Med Biol 1998;446:145-159
    • (1998) Adv Exp Med Biol , vol.446 , pp. 145-159
    • Wong, P.C.1    Borchelt, D.R.2    Lee, M.K.3
  • 80
    • 0343045300 scopus 로고    scopus 로고
    • Age-dependent increase in SOD1 in the spinal cord of ALS-transgenic mice
    • Cole N, Lozar A, Kim M, Siddique T. Age-dependent increase in SOD1 in the spinal cord of ALS-transgenic mice. Soc Neuroscience Abst 1998;486
    • (1998) Soc Neuroscience Abst , pp. 486
    • Cole, N.1    Lozar, A.2    Kim, M.3    Siddique, T.4
  • 81
    • 15844384254 scopus 로고    scopus 로고
    • Genetic and molecular basis for copper toxicity
    • Harris ZL, Gitlin JD. Genetic and molecular basis for copper toxicity. Am J Clin Nutr 1996;63:836S-841S
    • (1996) Am J Clin Nutr , vol.63
    • Harris, Z.L.1    Gitlin, J.D.2
  • 82
    • 0030671295 scopus 로고    scopus 로고
    • Delivering copper inside yeast and human cells
    • Valentine JS, Gralla EB. Delivering copper inside yeast and human cells. Science 1997;278:817-818
    • (1997) Science , vol.278 , pp. 817-818
    • Valentine, J.S.1    Gralla, E.B.2
  • 84
    • 0032901111 scopus 로고    scopus 로고
    • The copper chaperone CCS is abundant in neurons and astrocytes in human and rodent brain
    • Rothstein JD, Dykes-Hoberg M, Corson LB, et al. The copper chaperone CCS is abundant in neurons and astrocytes in human and rodent brain. J Neurochem 1999;72(1):422-429
    • (1999) J Neurochem , vol.72 , Issue.1 , pp. 422-429
    • Rothstein, J.D.1    Dykes-Hoberg, M.2    Corson, L.B.3
  • 85
    • 0032508609 scopus 로고    scopus 로고
    • The copper chaperone CCS directly interacts with copper/zinc superoxide dismutase
    • Casereno RLB, Waggoner D, Gitlin JD. The copper chaperone CCS directly interacts with copper/zinc superoxide dismutase. J Biol Chem 1998;273:23625-23628
    • (1998) J Biol Chem , vol.273 , pp. 23625-23628
    • Casereno, R.L.B.1    Waggoner, D.2    Gitlin, J.D.3
  • 86
    • 0033611619 scopus 로고    scopus 로고
    • Release of copper ions from the familial amyotrophic lateral sclerosis-associated CuZn-superoxide dismutase mutants
    • Eum WS, Kang JH. Release of copper ions from the familial amyotrophic lateral sclerosis-associated CuZn-superoxide dismutase mutants. Mol Cells 1999;9(1):110-114
    • (1999) Mol Cells , vol.9 , Issue.1 , pp. 110-114
    • Eum, W.S.1    Kang, J.H.2
  • 87
    • 0030050727 scopus 로고    scopus 로고
    • Benefit of vitamin E, riluzole and gabapentin in a transgenic model of familial amyotrophic lateral sclerosis
    • Gurney ME, Cutting FB, Zhai P, et al. Benefit of vitamin E, riluzole and gabapentin in a transgenic model of familial amyotrophic lateral sclerosis. Ann Neurol 1996;39:147-158
    • (1996) Ann Neurol , vol.39 , pp. 147-158
    • Gurney, M.E.1    Cutting, F.B.2    Zhai, P.3
  • 88
    • 0029996740 scopus 로고    scopus 로고
    • Role of glutamate and excitotoxicity in neurologic disease
    • Hugon J, Vallat JM, Dumas M. Role of glutamate and excitotoxicity in neurologic disease. Rev Neurol (Paris) 1996;152: 239-248
    • (1996) Rev Neurol (Paris) , vol.152 , pp. 239-248
    • Hugon, J.1    Vallat, J.M.2    Dumas, M.3
  • 89
    • 0032967382 scopus 로고    scopus 로고
    • The role of excitotoxicity in neurodegenerative disease: Implications for therapy
    • Doble A. The role of excitotoxicity in neurodegenerative disease: Implications for therapy. Pharmacol Ther 1999;81(3):163-221
    • (1999) Pharmacol Ther , vol.81 , Issue.3 , pp. 163-221
    • Doble, A.1
  • 90
    • 0030927075 scopus 로고    scopus 로고
    • Glutamate, excitotoxicity and amyotrophic lateral sclerosis
    • Shaw CE, Ince PG, Glutamate, excitotoxicity and amyotrophic lateral sclerosis. J Neurol 1997;244(suppl.):S3-14
    • (1997) J Neurol , vol.244 , Issue.SUPPL.
    • Shaw, C.E.1    Ince, P.G.2
  • 91
    • 0029030610 scopus 로고
    • Selective loss of glial glutamate transporter GLT-1 in amyotrophic lateral sclerosis
    • Rothstein JD, Van Kammen M, Levey AI, Martin LJ, Kunci RW. Selective loss of glial glutamate transporter GLT-1 in amyotrophic lateral sclerosis. Ann Neurol 1995;38:73-84
    • (1995) Ann Neurol , vol.38 , pp. 73-84
    • Rothstein, J.D.1    Van Kammen, M.2    Levey, A.I.3    Martin, L.J.4    Kunci, R.W.5
  • 92
    • 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, Hediger MA. SOD1 mutants linked to amyotrophic lateral sclerosis selectively inactivate a glial glutamate transporter. Nature Neuroscience 1999;2(5):427-433
    • (1999) Nature Neuroscience , vol.2 , Issue.5 , pp. 427-433
    • Trotti, D.1    Rolfs, A.2    Danbolt, N.C.3    Brown, R.H.4    Hediger, M.A.5
  • 93
    • 0032032013 scopus 로고    scopus 로고
    • Aberrant RNA processing in 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 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
  • 94
    • 0032032844 scopus 로고    scopus 로고
    • Aberrant RNA splicing in sporadic amyotrophic lateral sclerosis
    • Bai G, Lipton SA. Aberrant RNA splicing in sporadic amyotrophic lateral sclerosis. Neuron 1998;20:363-366
    • (1998) Neuron , vol.20 , pp. 363-366
    • Bai, G.1    Lipton, S.A.2
  • 95
    • 0032549709 scopus 로고    scopus 로고
    • Identification of alternative splicing forms of GLT-1 mRNA in the spinal cord of amyotrophic lateral sclerosis patients
    • Nagai M, Abe K, Okamoto K, Itoyama Y. Identification of alternative splicing forms of GLT-1 mRNA in the spinal cord of amyotrophic lateral sclerosis patients. Neurosci Lett 1998;244 (3):165-168
    • (1998) Neurosci Lett , vol.244 , Issue.3 , pp. 165-168
    • Nagai, M.1    Abe, K.2    Okamoto, K.3    Itoyama, Y.4
  • 96
    • 0014835861 scopus 로고
    • Axon caliber related to neurofilaments and microtubules in sciatic nerve fibers of rats and mice
    • Friede RL, Samorajski T. Axon caliber related to neurofilaments and microtubules in sciatic nerve fibers of rats and mice. Anat Rec 1970;167:379-387
    • (1970) Anat Rec , vol.167 , pp. 379-387
    • Friede, R.L.1    Samorajski, T.2
  • 97
    • 0141488827 scopus 로고
    • Neurofilament gene expression: A major determinant of axonal caliber
    • Hoffman PN, Cleveland DW, Griffin JW, et al. Neurofilament gene expression: A major determinant of axonal caliber. Proc Natl Acad Sci USA 1937;84:3472-3476
    • (1937) Proc Natl Acad Sci Usa , vol.84 , pp. 3472-3476
    • Hoffman, P.N.1    Cleveland, D.W.2    Griffin, J.W.3
  • 98
    • 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
  • 99
    • 0027465098 scopus 로고
    • Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: A mouse model of amyotrophic lateral sclerosis
    • Core 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
    • Core, F.1    Collard, J.F.2    Julien, J.P.3
  • 100
    • 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
  • 101
    • 0029004898 scopus 로고
    • Defective axonal transport in a transgenic mouse model of amyotrophic lateral sclerosis
    • Collard JF, Core 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    Core, F.2    Julien, J.P.3
  • 102
    • 0032482976 scopus 로고    scopus 로고
    • Absence of neurofilaments reduces the selective vulnerability of motor neurons and slows disease caused by a familial amyotrophic lateral sclerosis-linked superoxide dismutase
    • Williamson TL, Bruijn LI, Zhu Q, et al. Absence of neurofilaments reduces the selective vulnerability of motor neurons and slows disease caused by a familial amyotrophic lateral sclerosis-linked superoxide dismutase. Proc Natl Acad Sci USA 1998;95(16):9631-9636
    • (1998) Proc Natl Acad Sci USA , vol.95 , Issue.16 , pp. 9631-9636
    • Williamson, T.L.1    Bruijn, L.I.2    Zhu, Q.3
  • 103
    • 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(4):759-769
    • (1998) Brain Pathol , vol.8 , Issue.4 , pp. 759-769
    • Julien, J.P.1    Couillard-Despres, S.2    Meier, J.3
  • 104
    • 0032483016 scopus 로고    scopus 로고
    • Protective effect of neurofilament heavy gene over-expression in motor neuron disease induced by mutant superoxide dismutase
    • Couillard-Depres S, Zhu Q, Wong PC, Price DL, Cleveland DW, Julien JP. Protective effect of neurofilament heavy gene over-expression in motor neuron disease induced by mutant superoxide dismutase. Proc Natl Acad Sci USA 1998;95(16): 9626-9630
    • (1998) Proc Natl Acad Sci USA , vol.95 , Issue.16 , pp. 9626-9630
    • Couillard-Depres, S.1    Zhu, Q.2    Wong, P.C.3    Price, D.L.4    Cleveland, D.W.5    Julien, J.P.6
  • 105
    • 0024428392 scopus 로고
    • Focal accumulation of phosphorylated neurofilaments within anterior horn cell in familial amyotrophic lateral sclerosis
    • Mizusawa H, Matsumoto S, Yen SH, Hirano A, Rojas-Corona RR, Donnenfeld H. Focal accumulation of phosphorylated neurofilaments within anterior horn cell in familial amyotrophic lateral sclerosis. Acta Neuropathol (Berl) 1989;79(1): 31-43
    • (1989) Acta Neuropathol (Berl) , vol.79 , Issue.1 , pp. 31-43
    • Mizusawa, H.1    Matsumoto, S.2    Yen, S.H.3    Hirano, A.4    Rojas-Corona, R.R.5    Donnenfeld, H.6
  • 106
    • 0028933344 scopus 로고
    • Neuropathological changes in two lines of mice carrying a transgene for mutant human CuZn-SOD and in mice overexpressing wild type human SOD: A model of familial amyotrophic lateral sclerosis (FALS)
    • Dal Canto MC, Gurney ME. Neuropathological changes in two lines of mice carrying a transgene for mutant human CuZn-SOD and in mice overexpressing wild type human SOD: A model of familial amyotrophic lateral sclerosis (FALS). Brain Res 1995;676(1):25-40
    • (1995) Brain Res , vol.676 , Issue.1 , pp. 25-40
    • Dal Canto, M.C.1    Gurney, M.E.2
  • 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;281:1851-1853
    • (1998) Science , vol.281 , pp. 1851-1853
    • Bruijn, L.I.1    Houseweart, M.K.2    Kato, S.3
  • 108
    • 0030777650 scopus 로고    scopus 로고
    • Aggregation of mutant CuZn superoxide dismutase proteins in a culture model of ALS
    • Durham HD, Roy J, Dong L, Figlewicz DA. Aggregation of mutant CuZn superoxide dismutase proteins in a culture model of ALS. J Neuropathol Exp Neurol 1997;56(5):523-530
    • (1997) J Neuropathol Exp Neurol , vol.56 , Issue.5 , pp. 523-530
    • Durham, H.D.1    Roy, J.2    Dong, L.3    Figlewicz, D.A.4
  • 109
    • 0030831352 scopus 로고    scopus 로고
    • Mutant superoxide dismutase-1-linked familal amyotrophic lateral sclerosis: Molecular mechanisms of neuronal death and protection
    • Ghadge GD, Lee JP, Bindokas VP, et al. Mutant superoxide dismutase-1-linked familal amyotrophic lateral sclerosis: Molecular mechanisms of neuronal death and protection. J Neurosci 1997;17(22):8756-8766
    • (1997) J Neurosci , vol.17 , Issue.22 , pp. 8756-8766
    • Ghadge, G.D.1    Lee, J.P.2    Bindokas, V.P.3
  • 110
    • 0030862630 scopus 로고    scopus 로고
    • The copper chelator d-penicilamine delays onset of disease and extends survival in a transgenic mouse model of familial amyotrophic lateral sclerosis
    • Hottinger AF, Fine EG, Gurney ME, Zurn AD, Aebischer P. The copper chelator d-penicilamine delays onset of disease and extends survival in a transgenic mouse model of familial amyotrophic lateral sclerosis. Eur J Neurosci 1997;9(7):1548-1551
    • (1997) Eur J Neurosci , vol.9 , Issue.7 , pp. 1548-1551
    • Hottinger, A.F.1    Fine, E.G.2    Gurney, M.E.3    Zurn, A.D.4    Aebischer, P.5
  • 111
    • 0030756459 scopus 로고    scopus 로고
    • Bcl-2: Prolonging life in a transgenic mouse model of familial amyotrophic lateral sclerosis
    • Kostic V, Jackson-Lewis V, deBibao F, Dubois-Dauphin M, Przedborski S. Bcl-2: Prolonging life in a transgenic mouse model of familial amyotrophic lateral sclerosis. Science 1997; 277(5325):559-562
    • (1997) Science , vol.277 , Issue.5325 , pp. 559-562
    • Kostic, V.1    Jackson-Lewis, V.2    Debibao, F.3    Dubois-Dauphin, M.4    Przedborski, S.5
  • 112
    • 0033597218 scopus 로고    scopus 로고
    • Benefit of a combined treatment with trientine and ascorbate in familial amyotrophic lateral sclerosis model in mice
    • Nagano S, Ogawa Y, Yanagihara T, Sakoda S. Benefit of a combined treatment with trientine and ascorbate in familial amyotrophic lateral sclerosis model in mice. Neurosci Lett 1999; 265:159-162
    • (1999) Neurosci Lett , vol.265 , pp. 159-162
    • Nagano, S.1    Ogawa, Y.2    Yanagihara, T.3    Sakoda, S.4
  • 113
    • 0033051815 scopus 로고    scopus 로고
    • Neuroprotective effects of creatine in a transgenic animal model of amyotrophic lateral sclerosis
    • Klivenyi PK, Ferrante RJ, Matthews RT, et al. Neuroprotective effects of creatine in a transgenic animal model of amyotrophic lateral sclerosis. Nature Med 1999;5(3):347-350
    • (1999) Nature Med , vol.5 , Issue.3 , pp. 347-350
    • Klivenyi, P.K.1    Ferrante, R.J.2    Matthews, R.T.3
  • 114
    • 0033583834 scopus 로고    scopus 로고
    • Genistein is neuroprotective in murine models of familial amyotrophic lateral sclerosis
    • Trieu VN, Uckun FM. Genistein is neuroprotective in murine models of familial amyotrophic lateral sclerosis. Biochem Biophys Res Commun 1999;258:685-688
    • (1999) Biochem Biophys Res Commun , vol.258 , pp. 685-688
    • Trieu, V.N.1    Uckun, F.M.2
  • 115
    • 0031944832 scopus 로고    scopus 로고
    • An analysis of extended survival in patients with amyotrophic lateral sclerosis treated with riluzole
    • Riviere M, Meininger V, Zeisser P, Munsat T. An analysis of extended survival in patients with amyotrophic lateral sclerosis treated with riluzole. Arch Neurol 1998;55(4):526-528
    • (1998) Arch Neurol , vol.55 , Issue.4 , pp. 526-528
    • Riviere, M.1    Meininger, V.2    Zeisser, P.3    Munsat, T.4
  • 116
    • 0029787291 scopus 로고    scopus 로고
    • Survival in patients with amyotrophic lateral sclerosi, treated with an array of antioxidants
    • Vyth A, Timmer JG, Bossuyt PM, Louwerse ES, deJong JM. Survival in patients with amyotrophic lateral sclerosi, treated with an array of antioxidants. J Neurol Sci 1996;139(suppl.): 99-103
    • (1996) J Neurol Sci , vol.139 , Issue.SUPPL. , pp. 99-103
    • Vyth, A.1    Timmer, J.G.2    Bossuyt, P.M.3    Louwerse, E.S.4    Dejong, J.M.5
  • 117
    • 0031723703 scopus 로고    scopus 로고
    • The natural history and the effects of gabapentin in amyotrophic lateral sclerosis
    • Mazzini L, Mora G, Balzarini C, et al. The natural history and the effects of gabapentin in amyotrophic lateral sclerosis. J Neurol Sci 1998;160(suppl. 1):S57-63
    • (1998) J Neurol Sci , vol.160 , Issue.SUPPL. 1
    • Mazzini, L.1    Mora, G.2    Balzarini, C.3
  • 118
    • 0028073692 scopus 로고
    • Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22
    • Delmsen KC, Lynch T, Pavlou E, et al. Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. Am J Hum Genet 1994;55:1159-1165
    • (1994) Am J Hum Genet , vol.55 , pp. 1159-1165
    • Delmsen, K.C.1    Lynch, T.2    Pavlou, E.3
  • 120
    • 0020346256 scopus 로고
    • Foci of motor neuron disease in high incidence in isolated populations of East Asia and the Western Pacific
    • Gajdusek DC. Foci of motor neuron disease in high incidence in isolated populations of East Asia and the Western Pacific. Adv Neurol 1982;36:363-393
    • (1982) Adv Neurol , vol.36 , pp. 363-393
    • Gajdusek, D.C.1
  • 121
    • 0015062173 scopus 로고
    • Recent neuropathologic observations in amyotrophic lateral sclerosis and parkinsonism-dementia of Guam
    • Brody JA, Hirano A, Scott RM. Recent neuropathologic observations in amyotrophic lateral sclerosis and parkinsonism-dementia of Guam. Neurology 1971;21:28-36
    • (1971) Neurology , vol.21 , pp. 28-36
    • Brody, J.A.1    Hirano, A.2    Scott, R.M.3
  • 122
    • 0344417053 scopus 로고    scopus 로고
    • Neurodegenerative diseases of Guam: Analysis of TAU
    • Perez-Tur J, Buee L, Morris HR, et al. Neurodegenerative diseases of Guam: Analysis of TAU. Neurology 1999;53(2): 411-113
    • (1999) Neurology , vol.53 , Issue.2 , pp. 411-1113
    • Perez-Tur, J.1    Buee, L.2    Morris, H.R.3
  • 123
    • 0025343142 scopus 로고
    • 2-Amino-3-(methylamino)-propanoic acid (BMAA) in cyad flour: An unlikely cause of amyotrophic lateral sclerosis and Parkinsonism-dementia of Guam
    • Duncan MW, Steele JC, Kopin IJ, Markey SP. 2-Amino-3-(methylamino)-propanoic acid (BMAA) in cyad flour: An unlikely cause of amyotrophic lateral sclerosis and Parkinsonism-dementia of Guam. Neurology 1990;40:767-772
    • (1990) Neurology , vol.40 , pp. 767-772
    • Duncan, M.W.1    Steele, J.C.2    Kopin, I.J.3    Markey, S.P.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.