|
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Unpublished work from Andersen's Lab |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 |
|
21413851 |
Hermann |
2011 |
Vocal cord paralysis and rapid progressive motor neuron disease by the I113F mutation in SOD1 gene |
|
22647583 |
Hineno |
2012 |
Distinctive clinicopathological features of 2 large families with amyotrophic lateral sclerosis having L106V mutation in SOD1 gene |
|
7980516 |
Hirano |
1994 |
A new variant Cu/Zn superoxide dismutase (Val7-->Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis |
|
21423311 |
Holmøy |
2011 |
[A young woman with a weakening leg] |
|
20192886 |
Holmøy |
2010 |
G127R: A novel SOD1 mutation associated with rapidly evolving ALS and severe pain syndrome |
|
8938700 |
Hosler |
1996 |
Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis |
|
27604643 |
Hou |
2016 |
Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China |
|
22185396 |
Hu |
2012 |
A novel SOD1 mutation in amyotrophic lateral sclerosis with a distinct clinical phenotype |
|
|
Hung |
1998 |
Am J Hum Genet, 63 (4 (Suppl)) (1998), p. A365 Abstract. |
|
7501156 |
Ikeda |
1995 |
Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn superoxide dismutase gene |
|
7795609 |
Ikeda |
1995 |
A novel point mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis |
|
26341325 |
Ioannides |
2016 |
When does ALS start? A novel SOD-1 p.Gly142Arg mutation causing motor neurone disease with prominent premorbid cramps and spasms |
|
9392581 |
Jackson |
1997 |
Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation |
|
7870076 |
Jones |
1994 |
Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient |
|
8069312 |
Jones |
1994 |
Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others |
|
9008494 |
Juneja |
1997 |
Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase |
|
11602336 |
Kato |
2001 |
Marked reduction of the Cu/Zn superoxide dismutase polypeptide in a case of familial amyotrophic lateral sclerosis with the homozygous mutation |
|
9101297 |
Kawamata |
1997 |
Novel G16S (GGC-AGC) mutation in the SOD-1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis |
|
9455983 |
Kawata |
1997 |
Prominent sensory and autonomic disturbances in familial amyotrophic lateral sclerosis with a Gly93Ser mutation in the SOD1 gene |
|
22214314 |
Keckarevic |
2012 |
A novel P66S mutation in exon 3 of the SOD1 gene with early onset and rapid progression |
|
26622980 |
Khani |
2015 |
Observation of c.260A > G mutationin superoxide dismutase 1 that causes p.Asn86Ser in Iranian amyotrophiclateral sclerosis patient and absence of genotype/phenotype correlation |
|
17453632 |
Kim |
2007 |
Clinical characteristics of familial amyotrophic lateral sclerosis with a Phe20Cys mutation in the SOD1 gene in a Korean family |
|
12480087 |
Kim |
2003 |
A novel SOD1 gene mutation in a Korean family with amyotrophic lateral sclerosis |
|
23744890 |
Klein |
2013 |
Novel SOD1 mutation discovered in atypical ALS by whole exome sequencing |
|
21084099 |
Kobayashi |
2010 |
FALS with Gly72Ser mutation in SOD1 gene: report of a family including the first autopsy case |
|
22670881 |
Kobayashi |
2010 |
Novel G37V mutation of SOD1 gene in autopsied patient with familial amyotrophic lateral sclerosis |
|
10624810 |
Kohno |
1999 |
A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressive familial amyotrophic lateral sclerosis |
|
8682505 |
Kostrzewa |
1996 |
Superoxide dismutase 1: identification of a novel mutation in a case of familial amyotrophic lateral sclerosis |
|
7881433 |
Kostrzewa |
1994 |
Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene |
|
23898858 |
Kuzma-Kozakiewicz |
2013 |
Recurrent K3E mutation in Cu/Zn superoxide dismutase gene associated with amyotrophic lateral sclerosis |
|
22244934 |
Kwon |
2012 |
Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS |
|
20801718 |
Laaksovirta |
2010 |
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study |
|
22722621 |
Lattante |
2012 |
Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease |
|
29609497 |
Li |
2018 |
A novel D90_K91insN mutation in exon 4 of the SOD1 gene caused familial amyotrophic lateral sclerosis in a Chinese pedigree |
|
|
Li Xiaoguang |
2006 |
Screening of Superoxide dismutase Gene Mutation in Chinese patient with Familial and Sporadic Amyotrophic Lateral Sclerosis |
|
25109764 |
Liu |
2014 |
Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system |
|
9311004 |
Maeda |
1997 |
[On intra-familial clinical diversities of a familial amyotrophic lateral sclerosis with a point mutation of Cu/Zn superoxide dismutase (Asn 86-Ser]. |
|
11676987 |
Mase |
2001 |
ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene |
|
12783432 |
Mayeux |
2003 |
N19S, a new SOD1 mutation in sporadic amyotrophic lateral sclerosis: no evidence for disease causation |
|
28105640 |
McCann |
2017 |
The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia |
|
20577002 |
Millecamps |
2010 |
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations |
|
|
Morita |
1998 |
A novel mutation Asp90Val in the SOD1 gene associated with Japanese familial ALS |
|
8907321 |
Morita |
1996 |
A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan |
|
29650794 |
Muller |
2018 |
Comprehensive analysis of the mutation spectrum in 301 German ALS families |
|
11535232 |
Murakami |
2001 |
A novel SOD1 gene mutation in familial ALS with low penetrance in females |
|
12039658 |
Naini |
2002 |
Identification of a novel mutation in Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis |
|
17257622 |
Naini |
2007 |
Identification of a novel D109Y mutation in Cu/Zn superoxide dismutase |
|
26742954 |
Nakamura |
2016 |
Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort |
|
9696308 |
Nakanishi |
1998 |
Simple and defined method to detect the SOD-1 mutants from patients with familial amyotrophic lateral sclerosis by mass spectrometry |
|
8179602 |
Nakano |
1994 |
A Novel Mutation in Cu/Zn Superoxide Dismutase Gene in Japanese Familial Amyotrophic Lateral Sclerosis |
|
8830861 |
Nakano |
1996 |
Instability of mutant Cu/Zn superoxide dismutase (Ala4Thr) associated with familial amyotrophic lateral sclerosis |
|
22049684 |
Niu |
2011 |
Screening of mutations in SOD1 gene and analysis of genotype-phenotype correlation in Chinese patients with amyotrophic lateral sclerosis |
|
15050430 |
Nogales-Gadea |
2004 |
A novel exon 5 mutation (N139H) in the SOD1 gene in a Spanish family associated with incomplete penetrance |
|
15465081 |
Ohi |
2004 |
Familial amyotrophic lateral sclerosis with His46Arg mutation in Cu/Zn superoxide dismutase presenting characteristic clinical features and Lewy body-like hyaline inclusions |
|
22632445 |
Origone |
2012 |
T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype |
|
21929355 |
Origone |
2010 |
Fast course ALS presenting with vocal cord paralysis: Clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation |
|
9065559 |
Orrell |
1997 |
Clinical 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 sclerosis |
|
10540008 |
Orrell |
1999 |
Clinical characteristics of SOD1 gene mutations in UK families with ALS |
|
8651656 |
Orrell |
1996 |
Difficulties in distinguishing sporadic from familial amyotrophic lateral sclerosis |
|
25681989 |
Özoguz |
2015 |
The distinct genetic pattern of ALS in Turkey and novel mutations |
|
10430435 |
Penco |
1999 |
A SOD1 gene mutation in a patient with slowly progressing familial ALS |
|
7887412 |
Pramatarova |
1995 |
Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis |
|
7874127 |
Pramatarova |
1994 |
A two basepair deletion in the SOD 1 gene causes familial amyotrophic lateral sclerosis |
|
8309590 |
Rainero |
1994 |
SOD1 missense mutation in an Italian family with ALS |
|
16476815 |
Regal |
2006 |
The G93C mutation in superoxide dismutase 1: clinicopathologic phenotype and prognosis |
|
16036425 |
Restagno |
2005 |
The IVS1 +319 t>a of SOD1 gene is not an ALS causing mutation |
|
13129803 |
Rezania |
2003 |
A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy |
|
20331403 |
Ricci |
2010 |
A novel exon 1 mutation (G10R) in the SOD1 gene in a patient with familial ALS |
|
|
Ricci |
2014 |
A new missense mutation in exon 4 of _SOD1_ gene in a patient with sporadic ALS |
|
8446170 |
Rosen |
1993 |
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis |
|
7496169 |
Sapp |
1995 |
Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis |
|
16291929 |
Sato |
2005 |
Rapid disease progression correlates with instability of mutant SOD1 in familial ALS |
|
14759637 |
Sato |
2004 |
Identification of two novel mutations in the Cu/Zn superoxide dismutase gene with familial amyotrophic lateral sclerosis: mass spectrometric and genomic analyses |
|
12215228 |
Segovia-Silvestre |
2002 |
A novel exon 3 mutation (D76V) in the SOD1 gene associated with slowly progressive ALS |
|
|
Seleen |
2015 |
Risk factors for amyotrophic lateral sclerosis : Lifestyle, environment and genetics |
|
9462467 |
Shaw |
1997 |
CNS tissue Cu/Zn superoxide dismutase (SOD1) mutations in motor neurone disease (MND) |
|
9506558 |
Shaw |
1998 |
Mutations in all five exons of SOD-1 may cause ALS |
|
15079798 |
Shi |
2004 |
Identification of the mutation of SOD1 gene in a familial amyotrophic lateral sclerosis |
|
10751275 |
Shimizu |
2000 |
Autonomic failure in ALS with a novel SOD1 gene mutation |
|
8875253 |
Siddique |
1996 |
Genetics of amyotrophic lateral sclerosis |
|
24908169 |
Soong |
2014 |
Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis |
|
16793335 |
Stewart |
2006 |
Corticomotoneuronal dysfunction in ALS patients with different SOD1 mutations |
|
16435343 |
Stewart |
2006 |
Clinicopathological phenotype of ALS with a novel G72C SOD1 gene mutation mimicking a myopathy |
|
20888599 |
Suzuki |
2011 |
Familial amyotrophic lateral sclerosis with Cys111Tyr mutation in Cu/Zn superoxide dismutase showing widespread Lewy body-like hyaline inclusions |
|
22595972 |
Synofzik |
2012 |
Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS |
|
19524271 |
Syriani |
2009 |
The 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 pedigree |
|
18852346 |
Takahashi |
2008 |
Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis |
|
20075587 |
Takazawa |
2010 |
Familial amyotrophic lateral sclerosis with a novel G85S mutation of superoxide dismutase 1 gene: clinical features of lower motor neuron disease |
|
11346368 |
Takehisa |
2001 |
Familial 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. |
|
15235802 |
Tan |
2004 |
Familial amyotrophic lateral sclerosis with bulbar onset and a novel Asp101Tyr Cu/Zn superoxide dismutase gene mutation |
|
30637102 |
Tang |
2019 |
Better survival in female SOD1-mutant patients with ALS: a study of SOD1-related natural history |
|
|
Tateishi |
|
Two ALS cases carrying a novel p.E121G missense mutation in exon 5 of SOD1 gene |
|
9875737 |
Tomkins |
1998 |
Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS) |
|
23182243 |
Tortelli |
2012 |
Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 gene |
|
28222900 |
Tripolszki |
2017 |
Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosis |
|
23853506 |
Trojsi |
2013 |
An Italian kindred with FALS due to c.149T>C mutation in the SOD1 gene: case report of an affected family member |
|
20472325 |
Tsai |
2010 |
FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS |
|
19847927 |
Valdmanis |
2009 |
A mutation that creates a pseudoexon in SOD1 causes familial ALS |
|
23155438 |
van Blitterswijk |
2012 |
Genetic overlap between apparently sporadic motor neuron diseases |
|
19965850 |
van Es |
2010 |
Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis |
|
21574856 |
Visani |
2011 |
A novel T137A SOD1 mutation in an Italian family with two subjects affected by amyotrophic lateral sclerosis |
|
24094577 |
Wang |
2013 |
Identification of a novel missense (C7W) mutation of SOD1 in a large familial ALS pedigree |
|
8990014 |
Watanabe |
1997 |
A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familial motor neuron disease |
|
10869061 |
Weber |
2000 |
Preserved slow conducting corticomotoneuronal projections in amyotrophic lateral sclerosis with autosomal recessive D90A CuZn-superoxide dismutase mutation |
|
21700728 |
Weber |
2012 |
ALS patients with SOD1 mutations in Switzerland show very diverse phenotypes and extremely long survival |
|
28291249 |
Wei |
2017 |
Analysis of SOD1 mutations in a Chinese population with amyotrophic lateral sclerosis: a case-control study and literature review |
|
11127534 |
Winter |
2000 |
Recessively inherited amyotrophic lateral sclerosis: a Germany family with the D90A CuZn-SOD mutation |
|
22595939 |
Wu |
2012 |
Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whole-exome sequencing |
|
22264771 |
Wuolikainen |
2012 |
ALS patients with mutations in the SOD1 gene have an unique metabolomic profile in the cerebrospinalA0fluid compared with ALS patients without mutations |
|
7655468 |
Yulug |
1995 |
An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4 |
|
16319027 |
Zhang |
2005 |
A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset and incomplete penetrance in China |
|
21329474 |
Zhao |
2011 |
Clinical features and Cu/Zn superoxide dismutase gene mutations in two mainland Chinese families with amyotrophic lateral sclerosis |
|
19332692 |
Zinman |
2009 |
A mechanism for low penetrance in an ALS family with a novel SOD1 deletion |
|
10735277 |
Zu |
1997 |
Exon 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 sclerosis |