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

AP4S1 gene

Known as: adaptor related protein complex 4 sigma 1 subunit, AP47B, AP4S1 
 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Abstract Autosomal recessive spastic paraplegia 52 is caused by biallelic mutations in AP4S1 which encodes a subunit of the… Expand
  • table 1
Is this relevant?
2019
2019
We report a likely pathogenic splice-altering AP4S1 intronic variant in two sisters with progressive spastic paraplegia, global… Expand
Is this relevant?
2018
2018
Hereditary spastic paraplegias (HSPs) are a group of rare inherited neurodegenerative disorders that result from primary… Expand
Is this relevant?
2017
2017
 
Is this relevant?
2016
2016
BACKGROUND AND PURPOSE The term hereditary spastic paraplegia (HSP) covers a spectrum of genetically heterogeneous disorders in… Expand
  • figure 1
  • figure 2
Is this relevant?
2015
2015
We report two siblings with infantile onset seizures, severe developmental delay and spastic paraplegia, in whom whole-genome… Expand
  • figure 1
  • figure 2
  • table 1
  • figure 3
Is this relevant?
2015
2015
Amphibians are experiencing global declines and extinctions, with infectious diseases representing a major factor. In this study… Expand
  • table 1
  • figure 1
  • table 2
  • figure 2
  • figure 3
Is this relevant?
Highly Cited
2011
Highly Cited
2011
Intellectual disability inherited in an autosomal-recessive fashion represents an important fraction of severe cognitive… Expand
  • figure 1
  • table 1
  • figure 2
  • figure 3
Is this relevant?
2006
2006
CLA intake in exclusively breast-fed infants is close to levels found to have physiological effects in animals. However, in the… Expand
  • table 1
  • table 2
  • table 3
  • figure 1
Is this relevant?