메뉴 건너뛰기




Volumn 61, Issue 5, 1997, Pages 1078-1087

Progressive ataxia due to a missense mutation in a calcium-channel gene

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BRAIN ATROPHY; BRAIN SCINTISCANNING; CASE REPORT; CEREBELLAR ATAXIA; CHROMOSOME 19P; CLINICAL FEATURE; EYE MOVEMENT; FEMALE; GENE LOCATION; GENETIC LINKAGE; GENOTYPE; HUMAN; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PRIORITY JOURNAL;

EID: 0030776159     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301613     Document Type: Article
Times cited : (162)

References (39)
  • 1
    • 0029560754 scopus 로고
    • Episodic ataxia results from voltage-dependent potassium channels with altered functions
    • Adelman JP, Bond CT, Pessia M, Maylie J (1995) Episodic ataxia results from voltage-dependent potassium channels with altered functions. Neuron 15:1449-1454
    • (1995) Neuron , vol.15 , pp. 1449-1454
    • Adelman, J.P.1    Bond, C.T.2    Pessia, M.3    Maylie, J.4
  • 2
    • 0026597221 scopus 로고
    • Familial periodic cerebellar ataxia: A problem of intracellular pH homeostasis
    • Bain PG, O'Brien MD, Keevil SF, Porter DA (1992) Familial periodic cerebellar ataxia: a problem of intracellular pH homeostasis. Ann Neurol 31:146-154
    • (1992) Ann Neurol , vol.31 , pp. 146-154
    • Bain, P.G.1    O'Brien, M.D.2    Keevil, S.F.3    Porter, D.A.4
  • 4
    • 0022651454 scopus 로고
    • Late cortical cerebellar atrophy: Clinical and oculographic features
    • Baloh RW, Yee RD, Honrubia V (1986) Late cortical cerebellar atrophy: clinical and oculographic features. Brain 109: 159-180
    • (1986) Brain , vol.109 , pp. 159-180
    • Baloh, R.W.1    Yee, R.D.2    Honrubia, V.3
  • 5
    • 0031015937 scopus 로고    scopus 로고
    • Familial episodic ataxia: Clinical heterogeneity in four families linked to chromosome 19p
    • Baloh RW, Yue Q, Furman JM, Nelson SF (1997) Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p. Ann Neurol 41:8-16
    • (1997) Ann Neurol , vol.41 , pp. 8-16
    • Baloh, R.W.1    Yue, Q.2    Furman, J.M.3    Nelson, S.F.4
  • 7
    • 0028124225 scopus 로고
    • Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene KCNA1
    • Browne DL, Gancher ST, Nutt JG, Brunt ERP, Smith EA, Kramer P, Litt M (1994) Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene KCNA1. Nat Genet 8:136-140
    • (1994) Nat Genet , vol.8 , pp. 136-140
    • Browne, D.L.1    Gancher, S.T.2    Nutt, J.G.3    Brunt, E.R.P.4    Smith, E.A.5    Kramer, P.6    Litt, M.7
  • 8
    • 0029914689 scopus 로고    scopus 로고
    • Sodium channel defects in myotonia and periodic paralysis
    • Cannon SC (1996) Sodium channel defects in myotonia and periodic paralysis. Annu Rev Neurosci 19:141-164
    • (1996) Annu Rev Neurosci , vol.19 , pp. 141-164
    • Cannon, S.C.1
  • 9
    • 0027409755 scopus 로고
    • + channel inactivation by anemone toxin (ATXII) mimics the myotonic state in hyperkalaemic periodic paralysis
    • + channel inactivation by anemone toxin (ATXII) mimics the myotonic state in hyperkalaemic periodic paralysis. Neuron 10:317-326
    • (1993) Neuron , vol.10 , pp. 317-326
    • Cannon, S.C.1    Corey, D.P.2
  • 10
    • 0027226223 scopus 로고
    • Functional expression of sodium channel mutations identified in families with periodic paralysis
    • Lond
    • Cannon SC, Stritmatter SM (1993) Functional expression of sodium channel mutations identified in families with periodic paralysis. J Physiol (Lond) 466:501-520
    • (1993) J Physiol , vol.466 , pp. 501-520
    • Cannon, S.C.1    Stritmatter, S.M.2
  • 11
    • 0029026638 scopus 로고
    • Structure and function of voltage-gated ion channels
    • Catterall WA (1995) Structure and function of voltage-gated ion channels. Annu Rev Biochem 64:493-531
    • (1995) Annu Rev Biochem , vol.64 , pp. 493-531
    • Catterall, W.A.1
  • 13
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millaseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1    Fauré, S.2    Fizames, C.3    Samson, D.4    Drouot, N.5    Vignal, A.6    Millaseau, P.7
  • 14
    • 0029655609 scopus 로고    scopus 로고
    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity, and mapping of the locus within a 2-cM interval
    • Ducros A, Nagy T, Alamowitch S, Nibbio A, Joutel A, Vahedi K, Chabriat H, et al (1996) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity, and mapping of the locus within a 2-cM interval. Am J Hum Genet 58:171-181
    • (1996) Am J Hum Genet , vol.58 , pp. 171-181
    • Ducros, A.1    Nagy, T.2    Alamowitch, S.3    Nibbio, A.4    Joutel, A.5    Vahedi, K.6    Chabriat, H.7
  • 16
    • 0026517122 scopus 로고
    • Calcium channel characteristics conferred on the sodium channel by single mutations
    • Heinemann SH, Terlau H, Stühmer W, Imoto K, Numa S (1992) Calcium channel characteristics conferred on the sodium channel by single mutations. Nature 356:441-443
    • (1992) Nature , vol.356 , pp. 441-443
    • Heinemann, S.H.1    Terlau, H.2    Stühmer, W.3    Imoto, K.4    Numa, S.5
  • 19
    • 0029690663 scopus 로고    scopus 로고
    • Machado-Joseph disease and SCA3: The genotype meets the phenotypes
    • Junck L, Fink JK (1996) Machado-Joseph disease and SCA3: the genotype meets the phenotypes. Neurology 46:4-8
    • (1996) Neurology , vol.46 , pp. 4-8
    • Junck, L.1    Fink, J.K.2
  • 20
    • 0026713642 scopus 로고    scopus 로고
    • Programmed cell death: Its possible contribution to neurotoxicity mediated by calcium channel antagonist
    • Koh JY, Cottman CW (1996) Programmed cell death: its possible contribution to neurotoxicity mediated by calcium channel antagonist. Brain Res 587:233-240
    • (1996) Brain Res , vol.587 , pp. 233-240
    • Koh, J.Y.1    Cottman, C.W.2
  • 21
    • 0031024292 scopus 로고    scopus 로고
    • Regional expression and cellular localization of the α1 and β subunit of high voltage-activated calcium channels in rat brain
    • Ludwig A, Flockerzi V, Hofman F (1997) Regional expression and cellular localization of the α1 and β subunit of high voltage-activated calcium channels in rat brain. J Neurosci 17:1339-1349
    • (1997) J Neurosci , vol.17 , pp. 1339-1349
    • Ludwig, A.1    Flockerzi, V.2    Hofman, F.3
  • 22
    • 0029012475 scopus 로고
    • Pore loops: An emerging theme in ion channel structure
    • MacKinnon R (1995) Pore loops: an emerging theme in ion channel structure. Neuron 14:889-892
    • (1995) Neuron , vol.14 , pp. 889-892
    • MacKinnon, R.1
  • 23
    • 0025775195 scopus 로고
    • Primary structure and functional expression from complementary DNA of a brain calcium channel
    • Mori Y, Friedrich T, Kim M-S, Atsushi M, Nakai J, Ruth P, Bosse E, et al (1991) Primary structure and functional expression from complementary DNA of a brain calcium channel. Nature 350:398-402
    • (1991) Nature , vol.350 , pp. 398-402
    • Mori, Y.1    Friedrich, T.2    Kim, M.-S.3    Atsushi, M.4    Nakai, J.5    Ruth, P.6    Bosse, E.7
  • 24
    • 0028349336 scopus 로고
    • Comparison of oculomotor findings in the progressive ataxia syndromes
    • Moschner C, Perlman S, Baloh RW (1994) Comparison of oculomotor findings in the progressive ataxia syndromes. Brain 117:15-25
    • (1994) Brain , vol.117 , pp. 15-25
    • Moschner, C.1    Perlman, S.2    Baloh, R.W.3
  • 25
    • 0025043541 scopus 로고
    • Basic mechanisms in vascular headache
    • Moskowitz MA (1990) Basic mechanisms in vascular headache. Neurol Clin 8:801-815
    • (1990) Neurol Clin , vol.8 , pp. 801-815
    • Moskowitz, M.A.1
  • 27
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita M, Suzuki Y, Sekiya T, Haayshi K (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5: 874-879
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekiya, T.3    Haayshi, K.4
  • 28
    • 0030939869 scopus 로고    scopus 로고
    • Genomic organization and evolution of alternative exons in a Drosophila calcium channel gene
    • Peixoto AA, Smithe LA, Hall JC (1997) Genomic organization and evolution of alternative exons in a Drosophila calcium channel gene. Genetics 145:1003-1013
    • (1997) Genetics , vol.145 , pp. 1003-1013
    • Peixoto, A.A.1    Smithe, L.A.2    Hall, J.C.3
  • 29
    • 0028074978 scopus 로고
    • Ion-channel shake-down
    • Ptacek L (1994) Ion-channel shake-down. Nat Genet 8: 111-112
    • (1994) Nat Genet , vol.8 , pp. 111-112
    • Ptacek, L.1
  • 32
    • 0028198386 scopus 로고
    • Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene
    • Ravnik-Glavac M, Glavac D, Dean M (1994) Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene. Hum Mol Genet 3:801-807
    • (1994) Hum Mol Genet , vol.3 , pp. 801-807
    • Ravnik-Glavac, M.1    Glavac, D.2    Dean, M.3
  • 34
    • 0025932040 scopus 로고
    • A methionine to valine mutation in the skeletal muscle sodium channel α-subunit in human hyperkalemic periodic paralysis
    • Rojas CY, Wang J, Schwartz LS, Hoffman EP, Powell BR, Brown RH (1991) A methionine to valine mutation in the skeletal muscle sodium channel α-subunit in human hyperkalemic periodic paralysis. Nature 354:387-389
    • (1991) Nature , vol.354 , pp. 387-389
    • Rojas, C.Y.1    Wang, J.2    Schwartz, L.S.3    Hoffman, E.P.4    Powell, B.R.5    Brown, R.H.6
  • 39
    • 0031012399 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in α1A-voltage-dependent calcium channel
    • Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, et al (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in α1A-voltage-dependent calcium channel. Nat Genet 15:62-69
    • (1997) Nat Genet , vol.15 , pp. 62-69
    • Zhuchenko, O.1    Bailey, J.2    Bonnen, P.3    Ashizawa, T.4    Stockton, D.W.5    Amos, C.6    Dobyns, W.B.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.