Condition: AMYOTROPHIC LATERAL SCLEROSIS 1
rs4148112 in
ABCG1 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
rs11061269 in
ADGRD1 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
rs1002442 in
ANK3 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
rs3849942 in
C9orf72;LOC107987057 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 24256812 2014 A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.
PMID 28931804 2017 Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.
rs2412208 in
CAMTA1 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 27244217 2016 Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.
rs7830371 in
CLVS1 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
rs11744876 in
CTNND2 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
rs121909342 in
DCTN1 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 27573046 2016 Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation.
PMID 23143281 2013 The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes.
PMID 18364389 2008 Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactin.
PMID 12627231 2003 Mutant dynactin in motor neuron disease.
PMID 18094236 2007 The G59S mutation in p150(glued) causes dysfunction of dynactin in mice.
PMID 16505168 2006 A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation.
PMID 19279216 2009 Neurodegeneration mutations in dynactin impair dynein-dependent nuclear migration.
PMID 16240349 2005 Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD.
PMID 15326253 2004 Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS.
PMID 17653917 2007 Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with good practice points. EALSC Working Group.
PMID 16324086 2005 EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives.
PMID 21914052 2012 EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force.
rs1464443 in
ERBB4 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
rs2457174 in
FSTL4 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
rs7601234 in
HOXD10 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
rs139550538 in
IDE gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 27244217 2016 Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.
rs2667100 in
INPP4B gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
rs9825420 in
ITGA9 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
rs13100616 in
KCNMB2-AS1;KCNMB2 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
rs34517613 in
KRT18P55 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 24256812 2014 A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.
rs4482178 in
LINC00351 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
rs730547 in
LOC105371742 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
rs11987758 in
LOC105377781 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
rs11590421 in
LOC105378658 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
rs2685056 in
LOC107986108 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
rs4761659 in
LOC643339 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
rs3852053 in
MASP1 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
rs10145110 in
MEG8 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
rs4234080 in
METTL21A gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
rs616147 in
MOBP gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 28931804 2017 Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.
rs9568797 in
OLFM4 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
rs7117082 in
OPCML gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
rs969599 in
PSD3 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 27244217 2016 Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.
rs35714695 in
SARM1 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 28931804 2017 Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.
rs121912446 in
SCAF4;SOD1 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 7496169 1995 Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.
PMID 15056757 2004 Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants.
PMID 10430435 1999 A SOD1 gene mutation in a patient with slowly progressing familial ALS.
PMID 8907321 1996 A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan.
PMID 10400992 1999 Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds.
PMID 8069312 1994 Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others.
PMID 9131652 1997 A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis.
PMID 8528216 1995 Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.
PMID 8446170 1993 Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.
PMID 8351519 1993 Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase.
PMID 12402272 2002 """True"" sporadic ALS associated with a novel SOD-1 mutation."
PMID 9029070 1997 Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis.
PMID 7881433 1994 Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene.
PMID 7870076 1994 Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.
PMID 7951252 1994 Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis.
PMID 27978769 2017 Genetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center.
PMID 7836951 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.
PMID 9455977 1997 Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser).
PMID 16324086 2005 EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives.
PMID 17653917 2007 Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with good practice points. EALSC Working Group.
PMID 19741096 2009 Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation.
PMID 7887412 1995 Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.
PMID 12963370 2003 ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization.
PMID 18378676 2008 Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis.
PMID 23062701 2013 Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients.
PMID 23280792 2012 A novel monoclonal antibody reveals a conformational alteration shared by amyotrophic lateral sclerosis-linked SOD1 mutants.
PMID 19483195 2009 Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease.
PMID 21914052 2012 EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force.
PMID 25109764 2014 Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system.
PMID 24769475 2014 A familial ALS case carrying a novel p.G147C SOD1 heterozygous missense mutation with non-executive cognitive impairment.
PMID 20577002 2010 SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.
rs1400816 in
SLC25A12 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
rs115134572 in
SLC9A9 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 27244217 2016 Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.
rs11556620 in
SOD1 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 17653917 2007 Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with good practice points. EALSC Working Group.
PMID 21914052 2012 EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force.
PMID 16324086 2005 EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives.
PMID 9455977 1997 Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser).
PMID 8528216 1995 Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.
PMID 8907321 1996 A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan.
PMID 7951252 1994 Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis.
PMID 8446170 1993 Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.
PMID 8351519 1993 Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase.
PMID 9131652 1997 A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis.
PMID 12963370 2003 ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization.
PMID 10430435 1999 A SOD1 gene mutation in a patient with slowly progressing familial ALS.
PMID 8069312 1994 Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others.
PMID 12402272 2002 """True"" sporadic ALS associated with a novel SOD-1 mutation."
PMID 10400992 1999 Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds.
PMID 15056757 2004 Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants.
PMID 7836951 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.
PMID 19741096 2009 Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation.
PMID 7870076 1994 Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.
PMID 7887412 1995 Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.
PMID 18378676 2008 Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis.
PMID 7496169 1995 Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.
PMID 7881433 1994 Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene.
PMID 16793335 2006 Corticomotoneuronal dysfunction in ALS patients with different SOD1 mutations.
PMID 19483195 2009 Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease.
PMID 16291929 2005 Rapid disease progression correlates with instability of mutant SOD1 in familial ALS.
PMID 26069299 2016 The G41D mutation in the superoxide dismutase 1 gene is associated with slow motor neuron progression and mild cognitive impairment in a Chinese family with amyotrophic lateral sclerosis.
PMID 9029070 1997 Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis.
PMID 20404329 2010 Mutation-dependent polymorphism of Cu,Zn-superoxide dismutase aggregates in the familial form of amyotrophic lateral sclerosis.
PMID 23280792 2012 A novel monoclonal antibody reveals a conformational alteration shared by amyotrophic lateral sclerosis-linked SOD1 mutants.
PMID 7891072 1995 Characterization of wild-type and amyotrophic lateral sclerosis-related mutant Cu,Zn-superoxide dismutases overproduced in baculovirus-infected insect cells.
PMID 28291249 2017 Analysis of SOD1 mutations in a Chinese population with amyotrophic lateral sclerosis: a case-control study and literature review.
PMID 12963370 2003 Characterizations of beta-barrel (H43R) and dimer interface (A4V) FALS mutants reveal reduced stability and drastically increased aggregation propensity.
PMID 21257910 2011 Decreased stability and increased formation of soluble aggregates by immature superoxide dismutase do not account for disease severity in ALS.
PMID 7655471 1995 Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis.
PMID 22647583 2012 Distinctive clinicopathological features of 2 large families with amyotrophic lateral sclerosis having L106V mutation in SOD1 gene.
PMID 20404910 2010 Metal-free ALS variants of dimeric human Cu,Zn-superoxide dismutase have enhanced populations of monomeric species.
PMID 20184893 2010 Disulfide-reduced ALS variants of Cu, Zn superoxide dismutase exhibit increased populations of unfolded species.
PMID 7997024 1995 """Sporadic"" motoneuron disease due to familial SOD1 mutation with low penetrance."
PMID 26362407 2015 Destabilization of the dimer interface is a common consequence of diverse ALS-associated mutations in metal free SOD1.
PMID 23286750 2013 Familial amyotrophic lateral sclerosis in Alberta, Canada.
PMID 28089144 2017 Essential role of ICAM-1 in aldosterone-induced atherosclerosis.
PMID 28105640 2017 The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia.
PMID 21549128 2011 ALS-causing SOD1 mutations promote production of copper-deficient misfolded species.
PMID 1259395 1976 Influence of cephalosporin antibiotics on blood coagulation and platelet function.
PMID 22292843 2012 SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience.
PMID 23726301 2014 The influence of topography on dynamic wetting.
PMID 14506936 2003 Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes.
PMID 10889018 2000 Copper(2+) binding to the surface residue cysteine 111 of His46Arg human copper-zinc superoxide dismutase, a familial amyotrophic lateral sclerosis mutant.
PMID 19635794 2009 A common property of amyotrophic lateral sclerosis-associated variants: destabilization of the copper/zinc superoxide dismutase electrostatic loop.
PMID 8298637 1993 Mild ALS in Japan associated with novel SOD mutation.
PMID 18951903 2009 Unfolding and folding kinetics of amyotrophic lateral sclerosis-associated mutant Cu,Zn superoxide dismutases.
PMID 22475618 2012 "Hereditary motor neuron disease in a large Norwegian family with a ""H46R"" substitution in the superoxide dismutase 1 gene."
PMID 25025039 2014 Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.
rs1169198442 in
SOD1;LOC102724449 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 12402272 2002 """True"" sporadic ALS associated with a novel SOD-1 mutation."
PMID 10430435 1999 A SOD1 gene mutation in a patient with slowly progressing familial ALS.
PMID 10400992 1999 Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds.
PMID 18378676 2008 Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis.
PMID 15056757 2004 Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants.
PMID 12963370 2003 ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization.
PMID 7496169 1995 Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.
PMID 19741096 2009 Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation.
PMID 7870076 1994 Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.
PMID 7887412 1995 Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.
PMID 7881433 1994 Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene.
PMID 8069312 1994 Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others.
PMID 8351519 1993 Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase.
PMID 8446170 1993 Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.
PMID 9131652 1997 A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis.
PMID 8528216 1995 Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.
PMID 7836951 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.
PMID 8907321 1996 A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan.
PMID 7951252 1994 Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis.
PMID 9455977 1997 Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser).
PMID 19259395 2009 Human embryonic stem cell-derived motor neurons expressing SOD1 mutants exhibit typical signs of motor neuron degeneration linked to ALS.
PMID 21549128 2011 ALS-causing SOD1 mutations promote production of copper-deficient misfolded species.
PMID 20404329 2010 Mutation-dependent polymorphism of Cu,Zn-superoxide dismutase aggregates in the familial form of amyotrophic lateral sclerosis.
PMID 12482932 2002 Common denominator of Cu/Zn superoxide dismutase mutants associated with amyotrophic lateral sclerosis: decreased stability of the apo state.
PMID 19618436 2009 SOD1 (A4V)-mediated ALS presenting with lower motor neuron facial diplegia and unilateral vocal cord paralysis.
PMID 19800308 2009 Structural and biophysical properties of metal-free pathogenic SOD1 mutants A4V and G93A.
PMID 22094223 2011 Superoxide dismutase 1 encoding mutations linked to ALS adopts a spectrum of misfolded states.
PMID 19176896 2009 Age and founder effect of SOD1 A4V mutation causing ALS.
PMID 7951249 1994 A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis.
PMID 19483195 2009 Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease.
PMID 21914052 2012 EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force.
PMID 16324086 2005 EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives.
PMID 17653917 2007 Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with good practice points. EALSC Working Group.
PMID 23280792 2012 A novel monoclonal antibody reveals a conformational alteration shared by amyotrophic lateral sclerosis-linked SOD1 mutants.
PMID 17543992 2007 Lack of TDP-43 abnormalities in mutant SOD1 transgenic mice shows disparity with ALS.
PMID 21257910 2011 Decreased stability and increased formation of soluble aggregates by immature superoxide dismutase do not account for disease severity in ALS.
PMID 26362407 2015 Destabilization of the dimer interface is a common consequence of diverse ALS-associated mutations in metal free SOD1.
PMID 8179602 1994 We have discovered a novel missense mutation (substitution of Thr for Ala4) in exon 1 (GCC to ACC) in two FALS patients from one Japanese FALS family.
rs121912447 in
SOD1;SCAF4 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 7836951 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.
PMID 10400992 1999 Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds.
PMID 10430435 1999 A SOD1 gene mutation in a patient with slowly progressing familial ALS.
PMID 17653917 2007 Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with good practice points. EALSC Working Group.
PMID 7870076 1994 Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.
PMID 12402272 2002 """True"" sporadic ALS associated with a novel SOD-1 mutation."
PMID 12963370 2003 ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization.
PMID 7496169 1995 Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.
PMID 16324086 2005 EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives.
PMID 7881433 1994 Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene.
PMID 9131652 1997 A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis.
PMID 18378676 2008 Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis.
PMID 8907321 1996 A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan.
PMID 8446170 1993 Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.
PMID 8528216 1995 Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.
PMID 19741096 2009 Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation.
PMID 8351519 1993 Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase.
PMID 7951252 1994 Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis.
PMID 21914052 2012 EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force.
PMID 9455977 1997 Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser).
PMID 8069312 1994 Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others.
PMID 7887412 1995 Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.
PMID 15056757 2004 Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants.
PMID 15258228 2004 Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect.
PMID 15987780 2005 Systematically perturbed folding patterns of amyotrophic lateral sclerosis (ALS)-associated SOD1 mutants.
PMID 9029070 1997 Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis.
PMID 27978769 2017 Genetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center.
PMID 23062701 2013 Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients.
PMID 20399791 2010 Exposure of hydrophobic surfaces initiates aggregation of diverse ALS-causing superoxide dismutase-1 mutants.
PMID 28222900 2017 Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosis.
PMID 21700728 2012 ALS patients with SOD1 mutations in Switzerland show very diverse phenotypes and extremely long survival.
PMID 20404329 2010 Mutation-dependent polymorphism of Cu,Zn-superoxide dismutase aggregates in the familial form of amyotrophic lateral sclerosis.
PMID 20309572 2010 The epidemiology of CuZn-SOD mutations in Germany: a study of 217 families.
PMID 11676987 2001 ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene.
PMID 23100398 2012 Extensive genetics of ALS: a population-based study in Italy.
PMID 19483195 2009 Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease.
rs1465567777 in
UBQLN4 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 28463112 2017 A novel ALS-associated variant in UBQLN4 regulates motor axon morphogenesis.
rs12608932 in
UNC13A gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 28931804 2017 Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.
rs12891047 in
ZFYVE26 gene and
AMYOTROPHIC LATERAL SCLEROSIS 1
PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.