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SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
Known as:
SPG9B
National Institutes of Health
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Related topics
Related topics
8 relations
Autosomal recessive inheritance
Dysarthria
Global developmental delay
Growth retardation
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2020
Review
2020
Δ1‐Pyrroline‐5‐carboxylate synthetase deficiency: An emergent multifaceted urea cycle‐related disorder
C. Marco-Marín
,
Juan M Escamilla-Honrubia
,
J. Llácer
,
M. Seri
,
E. Panza
,
V. Rubio
Journal of Inherited Metabolic Disease
2020
Corpus ID: 211024978
The bifunctional homooligomeric enzyme Δ1‐pyrroline‐5‐carboxylate synthetase (P5CS) and its encoding gene ALDH18A1 were…
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2019
2019
P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9
P. Magini
,
C. Marco-Marín
,
+7 authors
E. Panza
Annals of Clinical and Translational Neurology
2019
Corpus ID: 199539059
In 2015–2016, we and others reported ALDH18A1 mutations causing dominant (SPG9A) or recessive (SPG9B) spastic paraplegia. In…
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2018
2018
Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment
K. Koh
,
H. Ishiura
,
+6 authors
Y. Takiyama
Journal of Human Genetics
2018
Corpus ID: 254116852
Hereditary spastic paraplegias (HSPs) are characterized by various inherited disorders in which weakness and spasticity of the…
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