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

  
 

  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

  

« Síðasta færsla | Næsta færsla »

Innskráning

Ath. Vinsamlegast kveikið á Javascript til að hefja innskráningu.

Hafðu samband