SOD1

Gene summary Variants Phenotype Publications

Gene summary

Gene SOD1
Gene name superoxide dismutase 1
Number variants ALSoD 208
Number people with mutation ALSoD 371
Number of papers ALSoD 172
Chromosomal location 21q22.11
Protein Superoxide dismutase [Cu-Zn]
Discovery method Linkage analysis
Hg19 start-end 33031935-33041244
Hg38 start-end 31659622-31668931
Category

Definitive ALS gene

Evidence summary

To be drafted

Review references To be added

Variants in ALSoD

Mnemonic Chromosome Position hg19 HGVS Pubmed links # publications # patients
21 33040871 NM_000454.4:c.445G>A 8815157 7795609 2 0
21 33038865 NM_000454.5:c.239+34A>C 15789135 7951252 2 0
A141A 21 33040849 NM_000454.4:c.423T>A 14506936 16674979 8938700 3 1
A141G 21 33040848 NM_000454.4:c.422C>G 14506936 12039658 2 3
A146G 21 33040863 NM_000454.4:c.437C>G 14506936 1 4
A146T 21 33040862 NM_000454.4:c.436G>A 7496169 1 0
A5F 21 33032095 NM_000454.4:c.13_14delinsTT 21496827 1 2
A5S 21 33032095 NM_000454.4:c.13G>T 9696308 16291929 2 1
A5T 21 33032095 NM_000454.4:c.13G>A 12792143 14506936 7655471 8179602 8830861 16291929 6 5
A5V 21 33032096 NM_000454.4:c.14C>T 9365366 8351519 7655471 18428003 11369193 9008494 7887412 8446170 16291929 16793335 7655468 11 8
A90T 21 33039599 NM_000454.4:c.268G>A 14506936 1 1
A90V 21 33039600 NM_000454.4:c.269C>T 14506936 13129803 16291929 3 3
A96T 21 33039617 NM_000454.4:c.286G>A 16952453 11369193 2 0
c.170-108T>A 21 33038654 NM_000454.4:c.170-108T>A 9462467 1 2
c.239+62T>C 21 33038893 NM_000454.5:c.239+62T>C 15789135 1 0
c.240-7T>G 21 33039564 NM_000454.5:c.240-7T>G 20709807 1 0
c.358-10A>G 21 33040774 NM_000454.5:c.358-10A>G 7496169 1 0
c.358-10T>G 21 33040774 NM_000454.4:c.358-10T>G 7496169 1 0
c.358-11A>G 21 33040773 NM_000454.5:c.358-11A>G 10735277 1 0
c.358-304C>G 21 33040480 NM_000454.5:c.358-304C>G 19847927 1 0
C112Y 21 33039666 NM_000454.4:c.335G>A 18428003 22049684 20888599 3 0
C147R 21 33040865 NM_000454.4:c.439T>C 25109764 8875253 2 2
C147X 21 33040867 NM_000454.4:c.441T>A 22595939 1 1
C7F 21 33032102 NM_000454.4:c.20G>T 8907321 21329474 2 9
C7G 21 33032101 NM_000454.4:c.19T>G 10624810 21329474 2 6
C7S 21 33032101 NM_000454.4:c.19T>A 21073275 1 14
C7W 21 33032103 NM_000454.4:c.21C>G 24094577 1 4
C7Y 21 33032102 NM_000454.4:c.20G>A 21603025 1 0
D102G 21 33039636 NM_000454.4:c.305A>G 9065559 7655468 2 1
D102H 21 33039635 NM_000454.4:c.304G>C 14759637 16291929 2 2
D102N 21 33039635 NM_000454.4:c.304G>A 10980308 7870076 8651656 9065559 4 5
D102Y 21 33039635 NM_000454.4:c.304G>T 15235802 1 1
D110Y 21 33039659 NM_000454.4:c.328G>T 17257622 1 1
D125G 21 33040800 NM_000454.4:c.374A>T 14506936 1 0
D125V 21 33040800 NM_000454.4:c.374A>T 14506936 8938700 2 0
D126H 21 33040802 NM_000454.4:c.376G>C 8528216 9065559 2 2
D12Y 21 33032116 NM_000454.4:c.34G>T 20740631 1 1
D77V 21 33038822 NM_000454.4:c.230A>T 16674979 12215228 2 7
D77Y 21 33038821 NM_000454.4:c.229G>T 9365366 18428003 16291929 3 2
D84G 21 33039582 NM_000454.4:c.251A>G 20577002 1 0
D84N 21 33039581 NM_000454.4:c.250G>A 24908169 1 0
D91A 21 33039603 NM_000454.4:c.272A>C 10439968 23062701 7647793 8813280 9365366 14506936 15789135 9706719 18428003 16674979 11369193 9392581 20801718 23155438 19965850 10869061 11127534 17 18
D91A;D97N 21 NM_000454.5:c.[272A>C;289G>A] 11220750 1 4
D91N 21 33039602 NM_000454.5:c.271G>A 22918453 1 0
D91V 21 33039603 NM_000454.4:c.272A>T 1 0
D91_K92insN 21 33039602 NM_000454.5:c.273_275dup 29609497 1 0
D97MfsTer8 21 33039620 NM_000454.5:c.289del 1 1
D97N 21 33039620 NM_000454.4:c.289G>A 11220750 1 2
E101G 21 33039633 NM_000454.4:c.302A>G 14506936 7655471 9008494 9065559 8446170 9462467 7655468 22550220 8 1
E101K 21 33039632 NM_000454.4:c.301G>A 14506936 8875253 2 1
E122G 21 33040791 NM_000454.5:c.365A>G 1 2
E133DfsTer2 21 33040824 NM_000454.4:c.398_399insTT 9065559 1 0
E133insTT 9065559 1 0
E133K 21 33040823 NM_000454.5:c.397G>A 2 0
E133VfsX31 21 33040824 NM_000454.4:c.398insTT 9065559 10540008 2 0
E134del 21 33040822 NM_000454.4:c.400_402del 14506936 8938700 2 0
E134K 21 33040826 NM_000454.5:c.400G>A 29650794 1 0
E134V 21 33040827 NM_000454.4:c.401A>T 1 0
E22G 21 33032147 NM_000454.4:c.65A>G 9706719 20577002 8875253 19524271 4 15
E22K 21 33032146 NM_000454.4:c.64G>A 8069312 1 0
E41G 21 33036152 NM_000454.4:c.122A>G 24325798 1 1
E50K 21 33036178 NM_000454.4:c.148G>A 9706719 1 0
F21C 21 33032144 NM_000454.4:c.62T>G 14506936 17453632 25109764 3 10
F21L 21 33032145 NM_000454.5:c.63C>G 22722621 1 0
F46C 21 33036167 NM_000454.4:c.137T>G 11369193 1 1
F46S 21 33036167 NM_000454.5:c.137T>C 22244934 1 1
F65L 21 33038785 NM_000454.5:c.193T>C 23744890 1 0
G109V 21 33039657 NM_000454.4:c.326G>T 9065559 1 3
G10A 21 33032114 NM_000454.5:c.32G>C 24908169 1 0
G115A 21 33039675 NM_000454.4:c.344G>C 16291929 16793335 2 0
G11G 21 33032115 NM_000454.4:c.33C>T 9392581 1 0
G11R 21 33032113 NM_000454.4:c.31G>C 20331403 1 2
G11V 21 33032114 NM_000454.4:c.32G>T 12480087 1 10
G128R 21 33040808 NM_000454.4:c.382G>C 20192886 1 1
G128VfsTer7 21 33040806 NM_000454.4:c.382_383insTGGG 9365366 16291929 2 3
G139E 21 33040842 NM_000454.4:c.416G>A 20472325 1 1
G13R 21 33032119 NM_000454.4:c.37G>C 14506936 15789135 11369193 10430435 4 6
G142A 21 33040851 NM_000454.4:c.425G>C 22292843 1 1
G142E 21 33040851 NM_000454.4:c.425G>A 14759637 16291929 2 3
G142R 21 33040850 NM_000454.5:c.424G>A 26341325 1 0
G142X 21 33040850 NM_000454.4:c.424G>T 14506936 1 1
G148 21 33040868 NM_000454.4:c.442G>A 21929355 22632445 2 1
G148C 21 33040868 NM_000454.5:c.442G>T 24769475 1 0
G148D 21 33040869 NM_000454.4:c.443G>A 23062701 16469270 25109764 20577002 22049684 5 0
G148R 21 33040868 NM_000454.4:c.442G>C 14506936 1 0
G16A 21 33032132 NM_000454.4:c.50G>C 22244934 2 1
G17A 21 33032131 NM_000454.4:c.49G>A 9101297 1 1
G28_P29del 21 33036111 NM_000454.5:c.83_88del 19332692 1 2
G38R 21 33036142 NM_000454.4:c.112G>A 14506936 7655471 16674979 12210393 20577002 9696308 7887412 8446170 16291929 7655468 10 2
G38V 21 33036143 NM_000454.4:c.113G>T 22670881 1 1
G42D 21 33036155 NM_000454.4:c.125G>A 14506936 8446170 16291929 16793335 4 0
G42S 21 33036154 NM_000454.4:c.124G>A 21877919 11676987 20577002 8309590 8446170 5 10
G62R 21 33038776 NM_000454.4:c.184G>C 21545237 1 0
G73C 21 33038809 NM_000454.4:c.217G>T 18428003 16435343 2 1
G73D 21 33038810 NM_000454.5:c.218G>A 28291249 1 0
G73S 21 33038809 NM_000454.4:c.217G>A 21084099 9506558 2 2
G86R 21 33039587 NM_000454.4:c.256G>C 7655471 8446170 20472325 3 0
G86S 21 33039587 NM_000454.4:c.256G>A 20075587 1 2
G94A 21 33039612 NM_000454.4:c.281G>C 7655471 20577002 8446170 9875737 4 0
G94C 21 33039611 NM_000454.4:c.280G>T 10439968 20577002 7887412 16476815 8446170 5 0
G94D 21 33039612 NM_000454.4:c.281G>A 7951252 20577002 2 1
G94R 21 33039611 NM_000454.4:c.280G>C 8004110 9065559 2 0
G94S 21 33039611 NM_000454.4:c.280G>A 14506936 9455983 8875253 21603025 22264771 26742954 6 2
G94V 21 33039612 NM_000454.4:c.281G>T 8938700 20577002 9065559 28105640 10540008 5 2
H121L 21 33040788 NM_000454.4:c.362A>T 22292843 1 0
H44R 21 33036161 NM_000454.4:c.131A>G 14506936 7655471 8446170 3 0
H47D 21 33036169 NM_000454.4:c.139C>G 20577002 1 0
H47R 21 33036170 NM_000454.4:c.140A>G 8815157 14506936 8298637 7836951 7655471 21423311 9696308 15465081 16291929 9 3
H49Q 21 33036177 NM_000454.4:c.147T>G 8528216 9065559 2 2
H49R 21 33036176 NM_000454.4:c.146A>G 14506936 1 0
H72Y 21 33038806 NM_000454.5:c.214C>T 25681989 1 2
H81R 21 33039573 NM_000454.4:c.242A>G 12402272 1 1
I100V 21 33039629 NM_000454.4:c.298A>G 23155438 19965850 2 1
I105F 21 33039644 NM_000454.4:c.313A>T 8815157 7501156 2 3
I113M 21 33039670 NM_000454.4:c.339C>G 16674979 12210393 2 0
I113T 21 33039669 NM_000454.4:c.338T>C 14506936 7951252 2 1
I114F 21 33039671 NM_000454.4:c.340A>T 11369193 21413851 16291929 3 2
I114T 21 33039672 NM_000454.4:c.341T>C 14506936 9706719 7655471 18428003 9392581 8069312 9065559 7887412 8446170 16291929 9462467 16793335 23155438 7655468 14 6
I150T 21 33040875 NM_000454.4:c.449T>C 16963403 9696308 9065559 7887412 23853506 5 1
I150V 21 33040874 NM_000454.5:c.448A>G 25299611 1 0
I152S 21 33040881 NM_000454.4:c.455T>G 14506936 1 0
I152T 21 33040881 NM_000454.4:c.455T>C 8682505 20577002 2 2
I19del 21 33032132 NM_000454.5:c.56_58delTCA 24296360 1 0
K129PfsX6 21 33040809 NM_000454.5:c.383_384insACCC 29751510 1 0
K129WfsX6 21 33040810 NM_000454.5:c.384_385insTGGG 9365366 1 0
K137X 21 33040835 NM_000454.4:c.409A>T 16952453 1 0
K4E 21 33032092 NM_000454.5:c.10A>G 23898858 18852346 2 10
K92RfsX9 21 33039604 NM_000454.5:c.275_276del 28222900 1 0
L106V 21 33039650 NM_000454.4:c.319C>G 14506936 7655471 22647583 8446170 18852346 5 12
L107F 21 33039650 NM_000454.4:c.319C>T 20385392 1 7
L118V 21 33039683 NM_000454.4:c.352C>G 22595972 1 0
L127GfsTer6 21 33040804 NM_000454.5:c.379_380del 7874127 16291929 2 0
L127S 21 33040806 NM_000454.4:c.380T>C 11602336 11535232 16291929 8875253 11346368 5 9
L127X 21 33040806 NM_000454.4:c.380T>A 10735277 8875253 2 1
L145F 21 33040861 NM_000454.4:c.435G>C 14506936 8351519 13129804 7887412 16291929 7655468 6 45
L145S 21 33040860 NM_000454.4:c.434T>C 23062701 7496169 2 3
L39R 21 33036146 NM_000454.4:c.116T>G 9706719 20577002 2 0
L39V 21 33036145 NM_000454.4:c.115C>G 10439968 14506936 8446170 3 0
L68P 21 33038795 NM_000454.4:c.203T>C 21247266 1 2
L68R 21 33038795 NM_000454.4:c.203T>G 9706719 1 0
L85F 21 33039586 NM_000454.4:c.255G>C 26630559 23062701 14506936 9706719 10496267 11369193 20577002 9506558 21329474 9 5
L85V 21 33039584 NM_000454.4:c.253T>G 8815157 7755363 7655471 20577002 21329474 5 1
L9Q 21 33032108 NM_000454.4:c.26T>A 9131652 8875253 2 7
L9V 21 33032107 NM_000454.4:c.25C>G 14506936 1 1
N139H 21 33040844 NM_000454.4:c.418A>C 16674979 15050430 2 3
N140D 21 33040844 NM_000454.4:c.418A>G 16469270 20577002 2 0
N140K 21 33040846 NM_000454.4:c.420C>A 14506936 7887412 2 0
N140N 21 33040846 NM_000454.4:c.420C>T 9365366 1 0
N20S 21 33032141 NM_000454.4:c.59A>G 12783432 16036425 2 1
N66S 21 33038789 NM_000454.4:c.197A>G 14506936 16952453 12210393 3 5
N87D 21 33039590 NM_000454.4:c.259A>G 9311004 1 0
N87I 21 33039591 NM_000454.4:c.260A>T 1 0
N87K 21 33039592 NM_000454.4:c.261T>A 17299743 1 1
N87S 21 33039591 NM_000454.4:c.260A>G 20577002 16291929 9556377 30637102 27604643 25681989 26622980 22244934 9556377 11 3
P67R 21 33038792 NM_000454.4:c.200C>G 20577002 1 0
P67S 21 33038791 NM_000454.4:c.199C>T 22214314 1 1
Q154Q 21 33040888 NM_000454.4:c.462A>G 9365366 1 0
Q22H 21 33032151 NM_000454.5:c.69G>C 21603025 1 0
Q23L 21 33032150 NM_000454.4:c.68A>T 14506936 1 0
Q23R 21 33032150 NM_000454.4:c.68A>G 19000626 1 1
R116C 21 33039677 NM_000454.4:c.346C>T 23182243 1 0
R116G 21 33039677 NM_000454.4:c.346C>G 14506936 7881433 16291929 23182243 4 0
S105del 21 14506936 1 2
S106L 21 33039648 NM_000454.4:c.317C>T 16674979 16291929 16319027 3 0
S108LfsX15 21 33039651 NM_000454.5:c.320_321insT 30236613 1 0
S135N 21 33040830 NM_000454.4:c.404G>A 16291929 18852346 8990014 3 3
S135T 21 33040830 NM_000454.4:c.404G>C 23889606 1 1
S60I 21 33038771 NM_000454.4:c.179G>T 14506936 1 0
S60S 21 33038772 NM_000454.4:c.180T>C 15789135 8938700 2 0
T117T 21 33039682 NM_000454.4:c.351A>G 16469270 1 0
T138A 21 33040838 NM_000454.4:c.412A>G 22292843 22632445 21574856 3 3
T138R 21 33040839 NM_000454.4:c.413C>G 20472325 1 2
T55R 21 33036194 NM_000454.4:c.164C>G 14506936 1 0
T89_D91del 21 33039595 NM_000454.4:c.265_273del 14506936 1 0
V119KfsTer5 21 33039686 NM_000454.4:c.355delinsAAAAC 9392581 1 0
V119L 21 33039686 NM_000454.4:c.355G>C 14506936 20577002 10751275 3 1
V119M 21 33039686 NM_000454.4:c.355G>A 1 0
V120F 21 33040784 NM_000454.5:c.358G>T 28291249 1 0
V149A 21 33040872 NM_000454.5:c.446T>C 29650794 1 0
V149G 21 33040872 NM_000454.4:c.446T>G 14506936 8351519 2 1
V15G 21 33032126 NM_000454.4:c.44T>G 9365366 16291929 2 1
V15M 21 33032125 NM_000454.4:c.43G>A 14506936 7655471 2 0
V30A 21 33036119 NM_000454.4:c.89T>C 1 0
V30Dfs*8 21 33036118 NM_000454.4:c.88_89insA 15079798 22185396 2 7
V30M 21 33036118 NM_000454.5:c.88G>A 15079798 22185396 2 0
V32A 21 33036125 NM_000454.4:c.95T>C 23954173 1 1
V48A 21 33036173 NM_000454.4:c.143T>C 30637102 3 0
V48F 21 33036172 NM_000454.4:c.142G>T 11369193 1 0
V6L 21 33032098 NM_000454.4:c.16G>T 21700728 1 0
V88A 21 33039594 NM_000454.4:c.263T>C 14506936 1 0
V88M 21 33039593 NM_000454.4:c.262G>A 16469270 1 0
V8E 21 33032105 NM_000454.4:c.23T>A 7980516 1 1
V95A 21 33039615 NM_000454.4:c.284T>C 22292843 1 0
V98L 21 33039623 NM_000454.4:c.292G>C 16469270 1 0
V98M 21 33039623 NM_000454.4:c.292G>A 14506936 8875253 2 0

Phenotype

Papers in ALSoD

Pubmed ID First author Year Title
8815157 Abe 1996 Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations
26630559 Abhishek Vats 2015 Identification of L84F mutation with a novel nucleotide change c.255G>T in superoxide dismutase gene in a North Indian family with amyotrophic lateral sclerosis
10439968 Aguirre 1999 Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium
21603025 Akimoto 2011 High-ResolutionMelting (HRM) Analysis of the Cu/Zn Superoxide Dismutase (SOD1)Gene in Japanese Sporadic Amyotrophic Lateral Sclerosis (SALS) Patients
12792143 Aksoy 2003 A4T mutation in the SOD1 gene causing familial amyotrophic lateral sclerosis
23062701 Alavi 2012 Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients
12402272 Alexander 2002 True sporadic ALS associated with a novel SOD-1 mutation
14506936 Andersen 2003 Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
9365366 Andersen 1997 Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia
7647793 Andersen 1995 Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase
8813280 Andersen 1996 Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation A clinical and genealogical study of 36 patients
16469270 Andersen 2006 Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene
Andersen 2015 Unpublished work from Andersen's Lab
8298637 Aoki 1993 Mild ALS in Japan associated with novel SOD mutation
7836951 Aoki 1994 Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: a possible new subtype of familial ALS
7755363 Aoki 1995 Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn superoxide dismutase mutation
21496827 Baek 2011 A novel codon4 mutation (A4F) in the SOD1gene in familial amyotrophic lateral sclerosis
15789135 Battistini 2005 SOD1 mutations in amyotrophic lateral sclerosis Results from a multicenter Italian study
20385392 Battistini 2010 Severe familial ALS with a novel exon 4 mutation (L106F) in the SOD1 gene
17299743 Beck 2007 Novel SOD1 N86K mutation is associated with a severe phenotype in familial ALS
21877919 Berdynski 2011 Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family
9131652 Bereznai 1997 A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis
24325798 Bertolin 2014 Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants
20709807 Birve 2010 A novel SOD1 splice site mutation associated with familialALS revealed by SOD activity analysis
9706719 Boukaftane 1998 Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis
21073275 Brotherton 2011 A novel ALS SOD1 C6S mutation with implications for aggregation related toxicity and genetic counseling
22292843 Brown 2012 SOD1, ANG, TARDBP and FUS mutations in Amyotrophic Lateral Sclerosis: a United States clinical testing lab experience
22918453 Calvo 2012 Amyotrophic lateral sclerosis/frontotemporal dementia with predominant manifestations of obsessive-compulsive disorder associated to GGGGCC expansion of the c9orf72 gene
24769475 Canosa 2014 A familial ALS case carrying a novel p.G147C SOD1 heterozygousmissense mutation with non-executive cognitive impairment
30236613 Canosa 2018 A novel p.Ser108LeufsTer15 SOD1 mutation leading to the formationof a premature stop codon in an apparently sporadic ALS patient:insights into the underlying pathomechanisms
10496267 Ceroni 1999 Clustering of ALS patients in central Italy due to the occurrence of the L84F SOD1 gene mutation
10980308 Cervenakova 2000 Progressive muscular atrophy variant of familial amyotrophic lateral sclerosis (PMA/ALS)
22550220 Chio 2012 ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations
21545237 Conforti 2011 Apparently sporadic motor neuron disease with a novel G61R-SOD1 gene mutation: incomplete penetrance or a change association?
16952453 Corrado 2006 SOD1 gene mutations in Italian patients with Sporadic Amyotrophic Lateral Sclerosis (ALS)
19000626 Corti 2008 Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction
25299611 Couthouis 2014 Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.
23889606 Cui 2013 New mutation in the SOD1 (copper/zinc superoxide dismutase-1) gene in a Chinese amyotrophic lateral sclerosis (ALS) patient
23954173 Dangoumau 2013 A novel SOD1 mutation p.V31A identified with a slowly progressive form of amyotrophic lateral sclerosis
21247266 Del Grande 2011 A novel L67P SOD1 mutation in an Italian ALS patient
7655471 Deng 1995 Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis
8351519 Deng 1993 Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase
24296360 Diard-Detoeuf 2014 Association of a paraneoplastic motor neuron disease withanti-Ri antibodies and a novel SOD1 I18del mutation
Edgar 2021 Mutation analysis of SOD1, C9orf72, TARDBP and FUS genes in ethnically-diverse Malaysian patients with Amyotrophic Lateral Sclerosis (ALS)
18428003 Eisen 2008 SOD1 gene mutations in ALS patients from British Columbia, Canada: clinical features, neurophysiology and ethical issues in management
8004110 Elshafey 1994 Identification of a new missense point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD-1) gene in a family with amyotrophic lateral sclerosis
8528216 Enayat 1995 Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis
7951252 Esteban 1994 Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis
13129804 Ferrera 2003 An Italian dominant FALS Leu144Phe SOD1 mutation: genotype-phenotype correlation
16963403 Fong 2006 Clinical phenotypes of a large Chinese multigenerational kindred with autosomal dominant familial ALS due to Ile149Thr SOD1 gene mutation
16674979 Gamez 2006 Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: should all sporadic ALS cases also be screened for SOD1?
12210393 Garcia-Redondo 2002 Molecular analysis of the superoxide dismutase 1 gene in Spanish patients with sporadic or familial amyotrophic lateral sclerosis
11369193 Gellera 2001 Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations
20740631 Georgoulopoulou 2010 A novel SOD1 mutation in a young amyotrophic lateral sclerosis patient with a very slowly progressive clinical course
11220750 Hand 2001 Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family
29751510 Hansen 1998 Novel 4-bp insertion in exon 5 of the CuZn-superoxidedismutase (SOD1) gene associated with familial amyotrophic lateral sclerosis
9556377 Hayward 1998 Homozygosity for Asn86Ser mutation in the CuZn-superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosis
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