Stökkbreytta genið SOD1-G93S (fundið hjá MND-sjúklingum á Íslandi og Japan)

MND-félagið	MS-félagið	MND-félagið	MND-félagið	MND-félagið	MND-félagið
Alþjóða-MND	MND-Svíþjóð	HSP í USA	MND í USA	ALS Therapy	VIB-Belgía

  

 

  Alþjóðleg miðstöð rannsókna á hreyfitauga sjúkdómum

International Center for Research on Motor Neuron Diseases

ICRon-MND

 

	Skýrslur um SOD1-G93S
2012	SOD1-N196 mutation in a family with amyotrophic lateral sclerosis
2012	The genetics and neuropathology of amyotrophic lateral sclerosis
2011	High-Resolution Melting (HRM) Analysis of the Cu/Zn Superoxide Dismutase (SOD1) Gene in Japanese Sporadic Amyotrophic Lateral Sclerosis (SALS) Patients
2011	SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant
2011	Decreased stability and increased formation of soluble aggregates by immature superoxide dismutase do not account for disease severity in ALS
2010	Phenotypic Heterogeneity in a SOD1 G93D Italian ALS Family: An Example of Human Model to Study a Complex Disease
2010	Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS
2010	SOD1 Mutations in Amyotrophic Lateral Sclerosis
2010	SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial Amyotrophic Lateral Sclerosis: genotype-phenotype correlations
2010	Identification of compounds protective against G93A-SOD1 toxicity for the treatment of amyotrophic lateral sclerosis
2009	SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis
2009	Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis
2009	Variation in aggregation propensities among ALS-associated variants of SOD1: Correlation to human disease
2008	Familial amyotrophic lateral sclerosis with Gly93Ser mutation in Cu/Zn superoxide dismutase: A clinical and neuropathological study
2008	Protein Aggregation and Protein Instability Govern Familial Amyotrophic Lateral Sclerosis Patient Survival
2007	Mutant SOD1-induced neuronal toxicity is mediated by increased mitochondrial superoxide levels
2006	Calorimetric Analysis of Thermodynamic Stability and mutation Aggregation for Apo and Holo ALS-associated Gly-93 Mutants of Superoxide Dismutase
2006	The G93C Mutation in Superoxide Dismutase 1. Clinicopathologic Phenotype and Prognosis
2005	SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study
2002	Anticipation in familial amyotrophic lateral sclerosis with SOD1-G93S mutation
2000	Recessively inherited amyotrophic lateral sclerosis: a German family with the D90A CuZn-SOD mutation
1997	Prominent sensory and autonomic disturbances in familial amyotrophic lateral sclerosis with a Gly93Ser mutation in the SOD1 gene
1997	Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser)
1997	Phenotypic heterogeneity in motor neuron disease patients with CuZnsuperoxide dismutase mutations in Scandinavia
1996	Cu/Zn superoxide gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features
1996	Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis
1994	Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity
	SOD1 Mutations Regions