Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: Correlation between genotype and clinical features

被引:119
作者
Radunovic, A [1 ]
Leigh, PN [1 ]
机构
[1] UNIV LONDON KINGS COLL,SCH MED & DENT,LONDON SE5 8AF,ENGLAND
基金
英国惠康基金;
关键词
D O I
10.1136/jnnp.61.6.565
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
[No abstract available]
引用
收藏
页码:565 / 572
页数:8
相关论文
共 83 条
[1]   Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations [J].
Abe, K ;
Aoki, M ;
Ikeda, M ;
Watanabe, M ;
Hirai, S ;
Itoyama, Y .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1996, 136 (1-2) :108-116
[2]  
AKSOV A, 1995, 6 INT S ALS MND PATH
[3]   Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation - A clinical and genealogical study of 36 patients [J].
Andersen, PM ;
Forsgren, L ;
Binzer, M ;
Nilsson, P ;
AlaHurula, V ;
Keranen, ML ;
Bergmark, L ;
Saarinen, A ;
Haltia, T ;
Tarvainen, I ;
Kinnunen, E ;
Udd, B ;
Marklund, SL .
BRAIN, 1996, 119 :1153-1172
[4]   AMYOTROPHIC-LATERAL-SCLEROSIS ASSOCIATED WITH HOMOZYGOSITY FOR AN ASP90ALA MUTATION IN CUZN-SUPEROXIDE DISMUTASE [J].
ANDERSEN, PM ;
NILSSON, P ;
ALAHURULA, V ;
KERANEN, ML ;
TARVAINEN, I ;
HALTIA, T ;
NILSSON, L ;
BINZER, M ;
FORSGREN, L ;
MARKLUND, SL .
NATURE GENETICS, 1995, 10 (01) :61-66
[5]   VARIANCE OF AGE AT ONSET IN A JAPANESE FAMILY WITH AMYOTROPHIC-LATERAL-SCLEROSIS ASSOCIATED WITH A NOVEL CU/ZN SUPEROXIDE-DISMUTASE MUTATION [J].
AOKI, M ;
ABE, K ;
HOUI, K ;
OGASAWARA, M ;
MATSUBARA, Y ;
KOBAYASHI, T ;
MOCHIO, S ;
NARISAWA, K ;
ITOYAMA, Y .
ANNALS OF NEUROLOGY, 1995, 37 (05) :676-679
[6]   FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS (ALS) IN JAPAN ASSOCIATED WITH H46R MUTATION IN CU/ZN SUPEROXIDE-DISMUTASE GENE - A POSSIBLE NEW SUBTYPE OF FAMILIAL ALS [J].
AOKI, M ;
OGASAWARA, M ;
MATSUBARA, Y ;
NARISAWA, K ;
NAKAMURA, S ;
ITOYAMA, Y ;
ABE, K .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1994, 126 (01) :77-83
[7]  
Aoki M, 1994, NAT GENET, V6, P225
[8]  
AOKI M, 1993, NAT GENET, V5, P323
[9]   DOWNS-SYNDROME - ABNORMAL NEUROMUSCULAR-JUNCTION IN TONGUE OF TRANSGENIC MICE WITH ELEVATED LEVELS OF HUMAN CU/ZN-SUPEROXIDE DISMUTASE [J].
AVRAHAM, KB ;
SCHICKLER, M ;
SAPOZNIKOV, D ;
YAROM, R ;
GRONER, Y .
CELL, 1988, 54 (06) :823-829
[10]   EVOLUTIONARY ASPECTS OF SUPEROXIDE-DISMUTASE - THE COPPER-ZINC ENZYME [J].
BANNISTER, WH ;
BANNISTER, JV ;
BARRA, D ;
BOND, J ;
BOSSA, F .
FREE RADICAL RESEARCH COMMUNICATIONS, 1991, 12-3 :349-361