Associated Papers
Children with Genetically Confirmed Hereditary Spastic Paraplegia: A Single-Center Experience.
Besen S et al.
Children (basel, Switzerland), 2025
The molecular landscape of hereditary ataxia: a single-center study.
Bregant E et al.
Human Genetics, 2025
Expanding molecular and clinical spectrum of CPT1C-associated hereditary spastic paraplegia (SPG73)-a case series.
Brooks AK et al.
Annals of Clinical and Translational Neurology, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG73
A novel variant of SPAST in a pedigree with pure hereditary spastic paraplegia in Yunnan Province.
Shen T et al.
Annals of Translational Medicine, 2022
Sensing of nutrients by CPT1C regulates late endosome/lysosome anterograde transport and axon growth.
Palomo-Guerrero M et al.
Elife, 2019
A novel CPT1C variant causes pure hereditary spastic paraplegia with benign clinical course.
Hong D et al.
Annals of Clinical and Translational Neurology, 2019
Carnitine palmitoyltransferase 1C: From cognition to cancer.
Casals N et al.
Progress in Lipid Research, 2016
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.
Rinaldi C et al.
Jama Neurology, 2015
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