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AP4S1 gene

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

Papers overview

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2020
2020
Autosomal recessive spastic paraplegia 52 is caused by biallelic mutations in AP4S1 which encodes a subunit of the adaptor… Expand
2019
2019
We report a likely pathogenic splice‐altering AP4S1 intronic variant in two sisters with progressive spastic paraplegia, global… Expand
2018
2018
Hereditary spastic paraplegias (HSPs) are a group of rare inherited neurodegenerative disorders that result from primary… Expand
2017
2017
PD patients treated with STN-DBS and LCIG, worsening activities of daily living by threefold after adjusting for cognitive… Expand
2016
2016
The term hereditary spastic paraplegia (HSP) covers a spectrum of genetically heterogeneous disorders in which lower limb… Expand
2015
2015
We report two siblings with infantile onset seizures, severe developmental delay and spastic paraplegia, in whom whole-genome… Expand
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2015
2015
Amphibians are experiencing global declines and extinctions, with infectious diseases representing a major factor. In this study… Expand
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Highly Cited
2011
Highly Cited
2011
Intellectual disability inherited in an autosomal-recessive fashion represents an important fraction of severe cognitive… Expand
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2006
2006
CLA intake in exclusively breast-fed infants is close to levels found to have physiological effects in animals. However, in the… Expand
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