Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

Ataxia Neuropathy Spectrum

Known as: Mitochondrial Recessive Ataxia Syndrome, Sando, Sensory Ataxia Neuropathy Dysarthria and Ophthalmoplegia 
 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2018
Review
2018
The POLG gene encodes the mitochondrial DNA polymerase that is responsible for replication of the mitochondrial genome. Mutations… Expand
  • table 1
  • figure 1
  • table 2
  • figure 2
  • table 3
Highly Cited
2012
Highly Cited
2012
In adult brains, ionotropic or metabotropic purinergic receptors are widely expressed in neurons and glial cells. They play an… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Highly Cited
2011
Highly Cited
2011
Objective: Mitochondrial DNA polymerase γ (POLG1) mutations in children often manifest as Alpers syndrome, whereas in adults, a… Expand
  • figure 1
  • figure 2
Highly Cited
2008
Highly Cited
2008
Infantile-onset spinocerebellar ataxia (IOSCA) is a severe neurodegenerative disorder caused by the recessive mutation in PEO1… Expand
  • figure 1
  • figure 3
  • figure 2
  • figure 4
  • figure 5
Highly Cited
2007
Highly Cited
2007
We reported previously that the DNA polymerase γ (POLG) W748S mutation, a common cause of mitochondrial recessive ataxia syndrome… Expand
  • figure 1
2006
2006
Sensory ataxia with neuropathy, dysarthria and ophthalmoparesis represent the clinical triad of SANDO, a specific mitochondrial… Expand
Highly Cited
2005
Highly Cited
2005
Mutations in the catalytic subunit of the mitochondrial DNA polymerase gamma (POLG) have been found to be an important cause of… Expand
Highly Cited
2002
Highly Cited
2002
Objective: To describe the epidemiology of injuries in the Australian Football League (AFL) over four seasons. Methods: An injury… Expand
Highly Cited
1999
Highly Cited
1999
Phosphoserine aminotransferase (PSAT; EC 2.6.1.52), a member of subgroup IV of the aminotransferases, catalyses the conversion of… Expand
1997
1997
This paper develops a typology of welfare services and attempts to illustrate its use in clarifying discussions about the… Expand