SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE

Known as: SPG49 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2014-2016
012320142016

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
We have performed whole-exome sequencing in a family trio with a 16-year-old girl suffering of progressive motor neuron disease… (More)
  • figure 1
  • figure 2
  • figure 3
Is this relevant?
Review
2016
Review
2016
Single gene disorders of the autophagy pathway are an emerging, novel and diverse group of multisystem diseases in children… (More)
Is this relevant?
2016
2016
BACKGROUND TECPR2 was first described as a disease causing gene when the c.3416delT frameshift mutation was found in five Jewish… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • table 1
Is this relevant?
2014
2014
Defective autophagy is associated with neurodegenerative disorders including Alzheimer, Parkinson and Huntington diseases… (More)
Is this relevant?