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SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE

Known as: SPG9B 
 
National Institutes of Health

Related topics

Related topics

8 relations
Autosomal recessive inheritanceDysarthriaGlobal developmental delayGrowth retardation
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Papers overview

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Review
2020
Review
2020
Δ1‐Pyrroline‐5‐carboxylate synthetase deficiency: An emergent multifaceted urea cycle‐related disorder
The bifunctional homooligomeric enzyme Δ1‐pyrroline‐5‐carboxylate synthetase (P5CS) and its encoding gene ALDH18A1 were… Expand
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2019
2019
P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9
In 2015–2016, we and others reported ALDH18A1 mutations causing dominant (SPG9A) or recessive (SPG9B) spastic paraplegia. In… Expand
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2018
2018
Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment
Hereditary spastic paraplegias (HSPs) are characterized by various inherited disorders in which weakness and spasticity of the… Expand
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