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SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)

Known as: Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy, Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux, SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX 
National Institutes of Health

Papers overview

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Review
2020
Review
2020
The bifunctional homooligomeric enzyme Δ1‐pyrroline‐5‐carboxylate synthetase (P5CS) and its encoding gene ALDH18A1 were… 
2019
2019
In 2015–2016, we and others reported ALDH18A1 mutations causing dominant (SPG9A) or recessive (SPG9B) spastic paraplegia. In… 
2018
2018
In this communication, we describe a technique for creation of a single stage, adequately sized capsulorrhexis in intumescent… 
2009
2009
Background: Hereditary spastic paraparesis (HPS) linked to mutations in the spastin gene (SPG4) is considered to be a pure form… 
Highly Cited
1999
Highly Cited
1999
We have recently observed a large pedigree with a new rare autosomal dominant spastic paraparesis. In three subsequent… 
1998
1998
The clinical features of four families with autosomal dominant spastic paraparesis (FSP) are described, along with the results of… 
Highly Cited
1987
Highly Cited
1987
We have measured all the essential fatty acids (EFA) in plasma phospholipids in forty‐one adults with atopic eczema and fifty…