GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneSOD1
Other namesALS, ALS1
Gene namesuperoxide dismutase 1, soluble
Gene inheritanceFALS genes found in SALS
Discovery methodLinkage Analysis
CategoryOXIDATIVE STRESS
Chromosome21q22.11
GRCh37 (hg19)Chr21:33031935-33041244 ( +)
GRCh38 (hg38)Chr21:31659622-31668931(+)
BackgroundALSoD uses the old numbering system (where the first codon ATG is not included) on SOD1 alone.E.g.the mutation A4V will be A5V in the new system. Mutations in SOD1 account for 20% of familial ALS.
Result2-7% sporadic cases have mutations
Mutations183
Patients397
FALSSALSMaleFemaleBulbarLimbNo dataMean age onsetN
28544180151163112148331

BIOINFORMATICS

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TOP META-ANALYSIS RESULT FROM ALSGENE

For more details on this and other meta-analysis results in this region please visit the ALSGene database

ANIMAL MODELS

                               

KEY PUBLICATIONS (159)

First_AuthorYearTitlePaper
Select  Full_Paper
Abe1996Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutationsFull_Paper
Abhishek Vats2015Identification of L84F mutation with a novel nucleotide change c.255G>T in superoxide dismutase gene in a North Indian family with amyotrophic lateral sclerosisFull_Paper
Aguirre1999Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in BelgiumFull_Paper
Aksoy2003A4T mutation in the SOD1 gene causing familial amyotrophic lateral sclerosisFull_Paper
Alavi2012Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patientsFull_Paper
Alexander2002"True" sporadic ALS associated with a novel SOD-1 mutationFull_Paper
Andersen1995Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutaseFull_Paper
Andersen1996Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation A clinical and genealogical study of 36 patientsFull_Paper
Andersen1997Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in ScandinaviaFull_Paper
Andersen2003Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputesFull_Paper
Andersen2006Amyotrophic lateral sclerosis genetics with Mendelian inheritanceFull_Paper
Andersen2006Amyotrophic lateral sclerosis genetics with Mendelian inheritanceFull_Paper
Andersen2015Unpublished work from Andersen's LabFull_Paper
Aoki1993Mild ALS in Japan associated with novel SOD mutationFull_Paper
Aoki1994Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: a possible new subtype of familial ALSFull_Paper
Aoki1995Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn superoxide dismutase mutationFull_Paper
Baek2011A novel codon4 mutation (A4F) in the SOD1gene in familial amyotrophic lateral sclerosisFull_Paper
Baek2011A novel codon4 mutation (A4F) in the SOD1gene in familial amyotrophic lateral sclerosisFull_Paper
Battistini2005SOD1 mutations in amyotrophic lateral sclerosis Results from a multicenter Italian studyFull_Paper
Battistini2010Severe familial ALS with a novel exon 4 mutation (L106F) in the SOD1 geneFull_Paper
Beck2007Novel SOD1 N86K mutation is associated with a severe phenotype in familial ALSFull_Paper
Berdynski2011Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish familyFull_Paper
Bereznai1997A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosisFull_Paper
Bertolin2014Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variantsFull_Paper
Boukaftane1998Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosisFull_Paper
Brotherton2011A novel ALS SOD1 C6S mutation with implications for aggregation related toxicity and genetic counselingFull_Paper
Brotherton2011A novel ALS SOD1 C6S mutation with implications for aggregation related toxicity and genetic counselingFull_Paper
Brown2012SOD1, ANG, TARDBP and FUS mutations in Amyotrophic Lateral Sclerosis: a United States clinical testing lab experienceFull_Paper
Ceroni1999Clustering of ALS patients in central Italy due to the occurrence of the L84F SOD1 gene mutationFull_Paper
Cervenakova2000Progressive muscular atrophy variant of familial amyotrophic lateral sclerosis (PMA/ALS)Full_Paper
Conforti2003Apparently sporadic motor neuron disease with a novel G61R-SOD1 gene mutation: incomplete penetrance or a change association?Full_Paper
Conforti2011Apparently sporadic motor neuron disease with a novel G61R-SOD1 gene mutation: incomplete penetrance or a change association?Full_Paper
Corrado2006SOD1 gene mutations in Italian patients with Sporadic Amyotrophic Lateral Sclerosis (ALS)Full_Paper
Corrado2006SOD1 gene mutations in Italian patients with Sporadic Amyotrophic Lateral Sclerosis (ALS)Full_Paper
Corti2008Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunctionFull_Paper
Cudkowicz1997Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosisFull_Paper
Cui2013New mutation in the SOD1 (copper/zinc superoxide dismutase-1) gene in a Chinese amyotrophic lateral sclerosis (ALS) patientFull_Paper
Cui2013New mutation in the SOD1 (copper/zinc superoxide dismutase-1) gene in a Chinese amyotrophic lateral sclerosis (ALS) patientFull_Paper
Dangoumau2013A novel SOD1 mutation p.V31A identified with a slowly progressive form of amyotrophic lateral sclerosisFull_Paper
Del Grande2011A novel L67P SOD1 mutation in an Italian ALS patientFull_Paper
Deng1993Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutaseFull_Paper
Deng1995Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosisFull_Paper
Eisen2008SOD1 gene mutations in ALS patients from British Columbia, Canada: clinical features, neurophysiology and ethical issues in managementFull_Paper
Elshafey1994Identification of a new missense point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD-1) gene in a family with amyotrophic lateral sclerosisFull_Paper
Enayat1995Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosisFull_Paper
Esteban1994Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosisFull_Paper
Ferrera2003An Italian dominant FALS Leu144Phe SOD1 mutation: genotype-phenotype correlationFull_Paper
Fong2006Clinical phenotypes of a large Chinese multigenerational kindred with autosomal dominant familial ALS due to Ile149Thr SOD1 gene mutationFull_Paper
Gallera2001Superoxide dismutase gene mutations in Italian patients with familial andFull_Paper
Gamez2006Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: should all sporadic ALS cases also be screened for SOD1?Full_Paper
Garcia-Redondo2002Molecular analysis of the superoxide dismutase 1 gene in Spanish patients with sporadic or familial amyotrophic lateral sclerosisFull_Paper
Gellera2001Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutationsFull_Paper
Georgoulopoulou2010A novel SOD1 mutation in a young amyotrophic lateral sclerosis patient with a very slowly progressive clinical courseFull_Paper
Haasdijk2002Increased apolipoprotein E expression correlated with the onset of neuronal degeneration in the spinal cord of G93A-SOD1 miceFull_Paper
Hand2001Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis familyFull_Paper
Hayward1998Homozygosity for Asn86Ser mutation in the CuZn-superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosisFull_Paper
Hermann2011Vocal cord paralysis and rapid progressive motor neuron disease by the I113F mutation in SOD1 geneFull_Paper
Hineno2012Distinctive clinicopathological features of 2 large families with amyotrophic lateral sclerosis having L106V mutation in SOD1 geneFull_Paper
Hirano1994A new variant Cu/Zn superoxide dismutase (Val7-->Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosisFull_Paper
Holmøy2010G127R: A novel SOD1 mutation associated with rapidly evolving ALS and severe pain syndromeFull_Paper
Holmøy2011[A young woman with a weakening leg]Full_Paper
Hosler1996Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosisFull_Paper
Hu2012A novel SOD1 mutation in amyotrophic lateral sclerosis with a distinct clinical phenotypeFull_Paper
Hung1998 Full_Paper
Ikeda1995A novel point mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosisFull_Paper
Ikeda1995Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn superoxide dismutase geneFull_Paper
Jackson1997Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutationFull_Paper
Johnston2006Amyotrophic Lateral Sclerosis in an Urban Setting: a population based study of inner city LondonFull_Paper
Jones1994Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patientFull_Paper
Jones1994Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three othersFull_Paper
Juneja1997Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutaseFull_Paper
Kato2001Marked reduction of the Cu/Zn superoxide dismutase polypeptide in a case of familial amyotrophic lateral sclerosis with the homozygous mutationFull_Paper
Kawamata1997Novel G16S (GGC-AGC) mutation in the SOD-1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosisFull_Paper
Kawata1997Prominent sensory and autonomic disturbances in familial amyotrophic lateral sclerosis with a Gly93Ser mutation in the SOD1 geneFull_Paper
Keckarevic2012A novel P66S mutation in exon 3 of the SOD1 gene with early onset and rapid progressionFull_Paper
Kim2003A novel SOD1 gene mutation in a Korean family with amyotrophic lateral sclerosisFull_Paper
Kim2007Clinical characteristics of familial amyotrophic lateral sclerosis with a Phe20Cys mutation in the SOD1 gene in a Korean familyFull_Paper
Klein2013Novel SOD1 mutation discovered in atypical ALS by whole exome sequencingFull_Paper
Kobayashi2010FALS with Gly72Ser mutation in SOD1 gene: report of a family including the first autopsy caseFull_Paper
Kobayashi2010Novel G37V mutation of SOD1 gene in autopsied patient with familial amyotrophic lateral sclerosisFull_Paper
Kohno1999A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressive familial amyotrophic lateral sclerosisFull_Paper
Kostrzewa1994Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 geneFull_Paper
Kostrzewa 1996Superoxide dismutase 1: identification of a novel mutation in a case of familial amyotrophic lateral sclerosisFull_Paper
Kuzma-Kozakiewicz2013Recurrent K3E mutation in Cu/Zn superoxide dismutase gene associated with amyotrophic lateral sclerosisFull_Paper
Kwon2012Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALSFull_Paper
Laaksovirta2010Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association studyFull_Paper
Li Xiaoguang2006Screening of Superoxide dismutase Gene Mutation in Chinese patient with Familial and Sporadic Amyotrophic Lateral SclerosisFull_Paper
Liu2014Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment systemFull_Paper
Maeda1997[On intra-familial clinical diversities of a familial amyotrophic lateral sclerosis with a point mutation of Cu/Zn superoxide dismutase (Asn 86-Ser].Full_Paper
Mase2001ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 geneFull_Paper
Mayeux2003N19S, a new SOD1 mutation in sporadic amyotrophic lateral sclerosis: no evidence for disease causationFull_Paper
Millecamps2010SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlationsFull_Paper
Morita1996A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in JapanFull_Paper
Morita1998A novel mutation Asp90Val in the SOD1 gene associated with Japanese familial ALSFull_Paper
Murakami2001A novel SOD1 gene mutation in familial ALS with low penetrance in femalesFull_Paper
Naini2002Identification of a novel mutation in Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosisFull_Paper
Naini2007Identification of a novel D109Y mutation in Cu/Zn superoxide dismutaseFull_Paper
Nakanishi1998Simple and defined method to detect the SOD-1 mutants from patients with familial amyotrophic lateral sclerosis by mass spectrometryFull_Paper
Nakano1994A Novel Mutation in Cu/Zn Superoxide Dismutase Gene in Japanese Familial Amyotrophic Lateral SclerosisFull_Paper
Nakano1996Instability of mutant Cu/Zn superoxide dismutase (Ala4Thr) associated with familial amyotrophic lateral sclerosisFull_Paper
Niu2011Screening of mutations in SOD1 gene and analysis of genotype-phenotype correlation in Chinese patients with amyotrophic lateral sclerosisFull_Paper
Nogales-Gadea2004A novel exon 5 mutation (N139H) in the SOD1 gene in a Spanish family associated with incomplete penetranceFull_Paper
Ohi2004Familial amyotrophic lateral sclerosis with His46Arg mutation in Cu/Zn superoxide dismutase presenting characteristic clinical features and Lewy body-like hyaline inclusionsFull_Paper
Origone2010Fast course ALS presenting with vocal cord paralysis: Clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutationFull_Paper
Origone2012T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotypeFull_Paper
Orrell1996Difficulties in distinguishing sporadic from familial amyotrophic lateral sclerosisFull_Paper
Orrell1997Clinical 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 sclerosisFull_Paper
Özoguz2015The distinct genetic pattern of ALS in Turkey and novel mutationsFull_Paper
Penco1999A SOD1 gene mutation in a patient with slowly progressing familial ALSFull_Paper
Pramatarova1994A two basepair deletion in the SOD 1 gene causes familial amyotrophic lateral sclerosisFull_Paper
Pramatarova1995Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosisFull_Paper
Pramatarova1995Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosisFull_Paper
Rainero1994SOD1 missense mutation in an Italian family with ALSFull_Paper
Regal2006The G93C mutation in superoxide dismutase 1: clinicopathologic phenotype and prognosisFull_Paper
Restagno2005The IVS1 +319 t>a of SOD1 gene is not an ALS causing mutationFull_Paper
Rezania2003A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathyFull_Paper
Ricci2010A novel exon 1 mutation (G10R) in the SOD1 gene in a patient with familial ALSFull_Paper
Rosen1993Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosisFull_Paper
Sapp1995Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosisFull_Paper
Sato2004Identification of two novel mutations in the Cu/Zn superoxide dismutase gene with familial amyotrophic lateral sclerosis: mass spectrometric and genomic analysesFull_Paper
Sato2005Rapid disease progression correlates with instability of mutant SOD1 in familial ALSFull_Paper
Segovia-Silvestre2002A novel exon 3 mutation (D76V) in the SOD1 gene associated with slowly progressive ALSFull_Paper
Seleen  Full_Paper
Shaw 1997CNS tissue Cu/Zn superoxide dismutase (SOD1) mutations in motor neurone disease (MND)Full_Paper
Shaw1998Mutations in all five exons of SOD-1 may cause ALSFull_Paper
Shi2004Identification of the mutation of SOD1 gene in a familial amyotrophic lateral sclerosisFull_Paper
Shimizu2000Autonomic failure in ALS with a novel SOD1 gene mutationFull_Paper
Siddique1991Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneityFull_Paper
Siddique1996Genetics of amyotrophic lateral sclerosisFull_Paper
Stewart2006Clinicopathological phenotype of ALS with a novel G72C SOD1 gene mutation mimicking a myopathyFull_Paper
Stewart2006Corticomotoneuronal dysfunction in ALS patients with different SOD1 mutationsFull_Paper
Suzuki2011Familial amyotrophic lateral sclerosis with Cys111Tyr mutation in Cu/Zn superoxide dismutase showing widespread Lewy body-like hyaline inclusionsFull_Paper
Syriani2009The p.E22G mutation in the Cu/Zn superoxide-dismutase gene predicts a long survival time: clinical and genetic characterization of a seven-generation ALS1 Spanish pedigreeFull_Paper
Takahashi2008Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosisFull_Paper
Takahashi2008Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosisFull_Paper
Takazawa2010Familial amyotrophic lateral sclerosis with a novel G85S mutation of superoxide dismutase 1 gene: clinical features of lower motor neuron diseaseFull_Paper
Takehisa2001Familial amyotrophic lateral sclerosis with a novel Leu126Ser mutation in the copper/zinc superoxide dismutase gene showing mild clinical features and lewy body-like hyaline inclusions.Full_Paper
Tan2004Familial amyotrophic lateral sclerosis with bulbar onset and a novel Asp101Tyr Cu/Zn superoxide dismutase gene mutationFull_Paper
Tateishi Two ALS cases carrying a novel p.E121G missense mutation in exon 5 of SOD1 geneFull_Paper
Tortelli2012Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 geneFull_Paper
Trojsi2013An Italian kindred with FALS due to c.149T>C mutation in the SOD1 gene: case report of an affected family memberFull_Paper
Tsai2010FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALSFull_Paper
Unpublished  Full_Paper
van Blitterswijk2012Genetic overlap between apparently sporadic motor neuron diseasesFull_Paper
van Es2010Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosisFull_Paper
Visani2010A novel T137A SOD1 mutation in an Italian family with two subjects affected by amyotrophic lateral sclerosisFull_Paper
Visani2011A novel T137A SOD1 mutation in an Italian family with two subjects affected by amyotrophic lateral sclerosisFull_Paper
Wang2013Identification of a novel missense (C7W) mutation of SOD1 in a large familial ALS pedigreeFull_Paper
Watanabe1997A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familial motor neuron diseaseFull_Paper
Weber2000Preserved slow conducting corticomotoneuronal projections in amyotrophic lateral sclerosis with autosomal recessive D90A CuZn-superoxide dismutase mutationFull_Paper
Winter2000Recessively inherited amyotrophic lateral sclerosis: a Germany family with the D90A CuZn-SOD mutationFull_Paper
Wu2012Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whole-exome sequencingFull_Paper
Yulug1995An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4Full_Paper
Zhang2005A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset and incomplete penetrance in ChinaFull_Paper
Zhao2011Clinical features and Cu/Zn superoxide dismutase gene mutations in two mainland Chinese families with amyotrophic lateral sclerosisFull_Paper
Zinman2009A mechanism for low penetrance in an ALS family with a novel SOD1 deletionFull_Paper
Zou2007SMN protects cells against mutant SOD1 toxicity by increasing chaperone activityFull_Paper
Zu1997Exon 5 encoded domain is not required for the toxic function of mutant SOD1 but essential for the dismutase activity: identification and characterization of two new SOD1 mutations associated with familial amyotrophic lateral sclerosisFull_Paper

GENETIC VARIATIONS

SNP (rs)BasepairpvalueAuthorYearTermPaper
 33036170 Abe1996GRCh37Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations
 33039584 Abe1996GRCh37Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations
 33039644 Abe1996GRCh37Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations
 33040871 Abe1996GRCh37Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations
 263 Aguirre1999GRCh37Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium
 33032173 Aguirre1999GRCh37Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium
 33038865 Aguirre1999GRCh37Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium
 33039603 Aguirre1999GRCh37Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium
 33039611 Aguirre1999GRCh37Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium
 33040846 Aguirre1999GRCh37Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium
 33039572 Alexander2002GRCh37"True" sporadic ALS associated with a novel SOD-1 mutation
 33032095 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33032096 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33032096 Andersen1997GRCh37Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia
 33032107 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33032119 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33032126 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33032126 Andersen1997GRCh37Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia
 33032144 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33032150 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33036142 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33036145 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33036155 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33036161 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33036170 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33036176 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33036194 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33038771 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33038789 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33038821 Andersen1997GRCh37Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia
 33039586 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33039594 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33039596 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33039599 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33039600 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33039603 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33039603 Andersen1996GRCh37Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation A clinical and genealogical study of 36 patients
 33039603 Andersen1996GRCh37Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation A clinical and genealogical study of 36 patients
 33039603 Andersen1997GRCh37Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia
 33039611 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33039612 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33039623 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33039632 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33039633 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33039647 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33039650 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33039669 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33039672 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33039677 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33039686 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33040800 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33040809 Andersen1997GRCh37Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia
 33040826 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33040844 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33040848 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33040850 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33040860 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33040861 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33040868 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33040872 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33040881 Andersen2003GRCh37Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
 33036170 Aoki1994GRCh37Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: a possible new subtype of familial ALS
 33036170 Aoki1993GRCh37Mild ALS in Japan associated with novel SOD mutation
 33039584 Aoki1995GRCh37Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn superoxide dismutase mutation
   Battistini2005GRCh37SOD1 mutations in amyotrophic lateral sclerosis Results from a multicenter Italian study
 33032119 Battistini2005GRCh37SOD1 mutations in amyotrophic lateral sclerosis Results from a multicenter Italian study
 33036154 Battistini2005GRCh37SOD1 mutations in amyotrophic lateral sclerosis Results from a multicenter Italian study
 33039603 Battistini2005GRCh37SOD1 mutations in amyotrophic lateral sclerosis Results from a multicenter Italian study
 33039650 Battistini2010GRCh37Severe familial ALS with a novel exon 4 mutation (L106F) in the SOD1 gene
 33039592 Beck2007GRCh37Novel SOD1 N86K mutation is associated with a severe phenotype in familial ALS
 33032108 Bereznai1997GRCh37A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis
 33036154 Ceroni1999GRCh37Clustering of ALS patients in central Italy due to the occurrence of the L84F SOD1 gene mutation
 33039586 Ceroni1999GRCh37Clustering of ALS patients in central Italy due to the occurrence of the L84F SOD1 gene mutation
 33039635 Cervenakova2000GRCh37Progressive muscular atrophy variant of familial amyotrophic lateral sclerosis (PMA/ALS)
 33038789 Corrado2006GRCh37SOD1 gene mutations in Italian patients with Sporadic Amyotrophic Lateral Sclerosis (ALS)
 33039617 Corrado2006GRCh37SOD1 gene mutations in Italian patients with Sporadic Amyotrophic Lateral Sclerosis (ALS)
 33040835 Corrado2006GRCh37SOD1 gene mutations in Italian patients with Sporadic Amyotrophic Lateral Sclerosis (ALS)
 33040881 Corrado2006GRCh37SOD1 gene mutations in Italian patients with Sporadic Amyotrophic Lateral Sclerosis (ALS)
 33032096 Cudkowicz1997GRCh37Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
 33036142 Cudkowicz1997GRCh37Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
 33036145 Cudkowicz1997GRCh37Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
 33036154 Cudkowicz1997GRCh37Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
 33036155 Cudkowicz1997GRCh37Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
 33036161 Cudkowicz1997GRCh37Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
 33039611 Cudkowicz1997GRCh37Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
 33039612 Cudkowicz1997GRCh37Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
 33039633 Cudkowicz1997GRCh37Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
 33039650 Cudkowicz1997GRCh37Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
 33039669 Cudkowicz1997GRCh37Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
 33039672 Cudkowicz1997GRCh37Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
 33040773 Cudkowicz1997GRCh37Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
 33040826 Cudkowicz1997GRCh37Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
 33040860 Cudkowicz1997GRCh37Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
 33040862 Cudkowicz1997GRCh37Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
 33040872 Cudkowicz1997GRCh37Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
 33032096 Eisen2008GRCh37SOD1 gene mutations in ALS patients from British Columbia, Canada: clinical features, neurophysiology and ethical issues in management
 33032173 Eisen2008GRCh37SOD1 gene mutations in ALS patients from British Columbia, Canada: clinical features, neurophysiology and ethical issues in management
 33038809 Eisen2008GRCh37SOD1 gene mutations in ALS patients from British Columbia, Canada: clinical features, neurophysiology and ethical issues in management
 33038821 Eisen2008GRCh37SOD1 gene mutations in ALS patients from British Columbia, Canada: clinical features, neurophysiology and ethical issues in management
 33039603 Eisen2008GRCh37SOD1 gene mutations in ALS patients from British Columbia, Canada: clinical features, neurophysiology and ethical issues in management
 33039666 Eisen2008GRCh37SOD1 gene mutations in ALS patients from British Columbia, Canada: clinical features, neurophysiology and ethical issues in management
 33039672 Eisen2008GRCh37SOD1 gene mutations in ALS patients from British Columbia, Canada: clinical features, neurophysiology and ethical issues in management
 33039611 Elshafey1994GRCh37Identification 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
 33036177 Enayat1995GRCh37Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis
 33039611 Enayat1995GRCh37Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis
 33039669 Enayat1995GRCh37Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis
 33039672 Enayat1995GRCh37Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis
 33040802 Enayat1995GRCh37Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis
 33040875 Enayat1995GRCh37Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis
 33040861 Ferrera2003GRCh37An Italian dominant FALS Leu144Phe SOD1 mutation: genotype-phenotype correlation
 33040875 Fong2006GRCh37Clinical phenotypes of a large Chinese multigenerational kindred with autosomal dominant familial ALS due to Ile149Thr SOD1 gene mutation
 33036142 Garcia-Redondo2002GRCh37Molecular analysis of the superoxide dismutase 1 gene in Spanish patients with sporadic or familial amyotrophic lateral sclerosis
 33038789 Garcia-Redondo2002GRCh37Molecular analysis of the superoxide dismutase 1 gene in Spanish patients with sporadic or familial amyotrophic lateral sclerosis
 33039670 Garcia-Redondo2002GRCh37Molecular analysis of the superoxide dismutase 1 gene in Spanish patients with sporadic or familial amyotrophic lateral sclerosis
 33032096 Gellera2001GRCh37Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations
 33032119 Gellera2001GRCh37Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations
 33036167 Gellera2001GRCh37Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations
 33039586 Gellera2001GRCh37Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations
 33039603 Gellera2001GRCh37Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations
 33039617 Gellera2001GRCh37Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations
 33039672 Gellera2001GRCh37Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations
 33039612 Haasdijk2002GRCh37Increased apolipoprotein E expression correlated with the onset of neuronal degeneration in the spinal cord of G93A-SOD1 mice
 33039603 Hand2001GRCh37Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family
 1155662033039591 Hayward1998GRCh37Homozygosity for Asn86Ser mutation in the CuZn-superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosis
 33032105 Hirano1994GRCh37A new variant Cu/Zn superoxide dismutase (Val7-->Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis
 33040808 Holmøy2010GRCh37G127R: A novel SOD1 mutation associated with rapidly evolving ALS and severe pain syndrome
 33039612 Hosler1996GRCh37Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis
 33040800 Hosler1996GRCh37Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis
 33040826 Hosler1996GRCh37Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis
   Ikeda1995GRCh37A novel point mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis
 33039603 Jackson1997GRCh37Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation
 33039672 Jackson1997GRCh37Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation
 33039686 Jackson1997GRCh37Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation
   Jones1994GRCh37Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient
 33032146 Jones1994GRCh37Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others
 33039633 Jones1994GRCh37Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient
 33039635 Jones1994GRCh37Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient
 33039672 Jones1994GRCh37Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others
 33039603 Kato2001GRCh37Marked reduction of the Cu/Zn superoxide dismutase polypeptide in a case of familial amyotrophic lateral sclerosis with the homozygous mutation
 33040806 Kato2001GRCh37Marked reduction of the Cu/Zn superoxide dismutase polypeptide in a case of familial amyotrophic lateral sclerosis with the homozygous mutation
 33032131 Kawamata1997GRCh37Novel G16S (GGC-AGC) mutation in the SOD-1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis
 33039611 Kawata1997GRCh37Prominent sensory and autonomic disturbances in familial amyotrophic lateral sclerosis with a Gly93Ser mutation in the SOD1 gene
 33032114 Kim2003GRCh37A novel SOD1 gene mutation in a Korean family with amyotrophic lateral sclerosis
 33032144 Kim2007GRCh37Clinical characteristics of familial amyotrophic lateral sclerosis with a Phe20Cys mutation in the SOD1 gene in a Korean family
 33032102 Kohno1999GRCh37A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressive familial amyotrophic lateral sclerosis
 13048019329182943E-08Laaksovirta2010GRCh37Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study
 33040861 Mase2001GRCh37ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene
 33032141 Mayeux2003GRCh37N19S, a new SOD1 mutation in sporadic amyotrophic lateral sclerosis: no evidence for disease causation
 33032102 Morita1996GRCh37A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan
 33040806 Murakami2001GRCh37A novel SOD1 gene mutation in familial ALS with low penetrance in females
 33040848 Naini2002GRCh37Identification of a novel mutation in Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis
 33032095 Nakano1996GRCh37Instability of mutant Cu/Zn superoxide dismutase (Ala4Thr) associated with familial amyotrophic lateral sclerosis
 33040844 Nogales-Gadea2004GRCh37A novel exon 5 mutation (N139H) in the SOD1 gene in a Spanish family associated with incomplete penetrance
 33039635 Orrell1996GRCh37Difficulties in distinguishing sporadic from familial amyotrophic lateral sclerosis
 33032096 Pramatarova1995GRCh37Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis
 33036142 Pramatarova1995GRCh37Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis
 33039611 Pramatarova1995GRCh37Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis
 33039672 Pramatarova1995GRCh37Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis
 33040846 Pramatarova1995GRCh37Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis
 33040861 Pramatarova1995GRCh37Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis
 33040875 Pramatarova1995GRCh37Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis
 33036154 Rainero1994GRCh37SOD1 missense mutation in an Italian family with ALS
 33032095 Regal2006GRCh37The G93C mutation in superoxide dismutase 1: clinicopathologic phenotype and prognosis
 33032096 Regal2006GRCh37The G93C mutation in superoxide dismutase 1: clinicopathologic phenotype and prognosis
 33036145 Regal2006GRCh37The G93C mutation in superoxide dismutase 1: clinicopathologic phenotype and prognosis
 33036170 Regal2006GRCh37The G93C mutation in superoxide dismutase 1: clinicopathologic phenotype and prognosis
 33039603 Regal2006GRCh37The G93C mutation in superoxide dismutase 1: clinicopathologic phenotype and prognosis
 33039611 Regal2006GRCh37The G93C mutation in superoxide dismutase 1: clinicopathologic phenotype and prognosis
 33039635 Regal2006GRCh37The G93C mutation in superoxide dismutase 1: clinicopathologic phenotype and prognosis
 33039672 Regal2006GRCh37The G93C mutation in superoxide dismutase 1: clinicopathologic phenotype and prognosis
 33039600 Rezania2003GRCh37A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy
 33032113 Ricci2010GRCh37A novel exon 1 mutation (G10R) in the SOD1 gene in a patient with familial ALS
 33036142 Rosen1993GRCh37Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
 33036145 Rosen1993GRCh37Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
 33036154 Rosen1993GRCh37Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
 33036155 Rosen1993GRCh37Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
 33036161 Rosen1993GRCh37Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
 33039587 Rosen1993GRCh37Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
 33039611 Rosen1993GRCh37Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
 33039612 Rosen1993GRCh37Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
 33039633 Rosen1993GRCh37Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
 33039650 Rosen1993GRCh37Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
 33039672 Rosen1993GRCh37Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
 33040774 Sapp1995GRCh37Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis
 33040860 Sapp1995GRCh37Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis
 33032092 Takahashi2008GRCh37Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis
 33040862 Sapp1995GRCh37Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis
 33032095 Sato2005GRCh37Rapid disease progression correlates with instability of mutant SOD1 in familial ALS
 33032096 Sato2005GRCh37Rapid disease progression correlates with instability of mutant SOD1 in familial ALS
 33032126 Sato2005GRCh37Rapid disease progression correlates with instability of mutant SOD1 in familial ALS
 33036142 Sato2005GRCh37Rapid disease progression correlates with instability of mutant SOD1 in familial ALS
 33036155 Sato2005GRCh37Rapid disease progression correlates with instability of mutant SOD1 in familial ALS
 33036170 Sato2005GRCh37Rapid disease progression correlates with instability of mutant SOD1 in familial ALS
 33038821 Sato2005GRCh37Rapid disease progression correlates with instability of mutant SOD1 in familial ALS
 33039600 Sato2005GRCh37Rapid disease progression correlates with instability of mutant SOD1 in familial ALS
 33039635 Sato2004GRCh37Identification of two novel mutations in the Cu/Zn superoxide dismutase gene with familial amyotrophic lateral sclerosis: mass spectrometric and genomic analyses
 33039635 Sato2005GRCh37Rapid disease progression correlates with instability of mutant SOD1 in familial ALS
 33039648 Sato2005GRCh37Rapid disease progression correlates with instability of mutant SOD1 in familial ALS
 33039671 Sato2005GRCh37Rapid disease progression correlates with instability of mutant SOD1 in familial ALS
 33039672 Sato2005GRCh37Rapid disease progression correlates with instability of mutant SOD1 in familial ALS
 33039675 Sato2005GRCh37Rapid disease progression correlates with instability of mutant SOD1 in familial ALS
 33039677 Sato2005GRCh37Rapid disease progression correlates with instability of mutant SOD1 in familial ALS
 33040805 Sato2005GRCh37Rapid disease progression correlates with instability of mutant SOD1 in familial ALS
 33040806 Sato2005GRCh37Rapid disease progression correlates with instability of mutant SOD1 in familial ALS
 33040809 Sato2005GRCh37Rapid disease progression correlates with instability of mutant SOD1 in familial ALS
 33040830 Sato2005GRCh37Rapid disease progression correlates with instability of mutant SOD1 in familial ALS
 33040851 Sato2004GRCh37Identification of two novel mutations in the Cu/Zn superoxide dismutase gene with familial amyotrophic lateral sclerosis: mass spectrometric and genomic analyses
 33040851 Sato2005GRCh37Rapid disease progression correlates with instability of mutant SOD1 in familial ALS
 33040861 Sato2005GRCh37Rapid disease progression correlates with instability of mutant SOD1 in familial ALS
 1155662033039591 Sato2005GRCh37Rapid disease progression correlates with instability of mutant SOD1 in familial ALS
 33038822 Segovia-Silvestre2002GRCh37A novel exon 3 mutation (D76V) in the SOD1 gene associated with slowly progressive ALS
 33035995 Shaw1997GRCh37CNS tissue Cu/Zn superoxide dismutase (SOD1) mutations in motor neurone disease (MND)
 33039633 Shaw1997GRCh37CNS tissue Cu/Zn superoxide dismutase (SOD1) mutations in motor neurone disease (MND)
 33039635 Shaw1997GRCh37CNS tissue Cu/Zn superoxide dismutase (SOD1) mutations in motor neurone disease (MND)
 33039672 Shaw1997GRCh37CNS tissue Cu/Zn superoxide dismutase (SOD1) mutations in motor neurone disease (MND)
 33041071 Shaw1997GRCh37CNS tissue Cu/Zn superoxide dismutase (SOD1) mutations in motor neurone disease (MND)
 33041161 Shaw1997GRCh37CNS tissue Cu/Zn superoxide dismutase (SOD1) mutations in motor neurone disease (MND)
 33040866 Shimizu2000GRCh37Autonomic failure in ALS with a novel SOD1 gene mutation
 33032096 Stewart2006GRCh37Corticomotoneuronal dysfunction in ALS patients with different SOD1 mutations
 33036155 Stewart2006GRCh37Corticomotoneuronal dysfunction in ALS patients with different SOD1 mutations
 33038809 Stewart2006GRCh37Clinicopathological phenotype of ALS with a novel G72C SOD1 gene mutation mimicking a myopathy
 33039672 Stewart2006GRCh37Corticomotoneuronal dysfunction in ALS patients with different SOD1 mutations
 33039675 Stewart2006GRCh37Corticomotoneuronal dysfunction in ALS patients with different SOD1 mutations
 33039650 Takahashi2008GRCh37Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis
 33040830 Takahashi2008GRCh37Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis
 33039587 Takazawa2010GRCh37Familial amyotrophic lateral sclerosis with a novel G85S mutation of superoxide dismutase 1 gene: clinical features of lower motor neuron disease
 33039635 Tan2004GRCh37Familial amyotrophic lateral sclerosis with bulbar onset and a novel Asp101Tyr Cu/Zn superoxide dismutase gene mutation
 33040830 Watanabe1997GRCh37A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familial motor neuron disease
 33039603 Weber2000GRCh37Preserved slow conducting corticomotoneuronal projections in amyotrophic lateral sclerosis with autosomal recessive D90A CuZn-superoxide dismutase mutation
 33039603 Winter2000GRCh37Recessively inherited amyotrophic lateral sclerosis: a Germany family with the D90A CuZn-SOD mutation
 33039633 Yulug1995GRCh37An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4
 33039636 Yulug1995GRCh37An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4
 33039672 Yulug1995GRCh37An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4
 33039648 Zhang2005GRCh37A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset and incomplete penetrance in China
 33039603 Kato2001GRCh37Marked reduction of the Cu/Zn superoxide dismutase polypeptide in a case of familial amyotrophic lateral sclerosis with the homozygous mutation