Associated Papers
Individual lipid alterations at the origin of neuronal Ceramide Synthase defects.
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Plos Genetics, 2025
Human genetic defects of sphingolipid synthesis.
Dubot P et al.
Journal of Inherited Metabolic Disease, 2025
Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases.
Canafoglia L et al.
Neurology. Genetics, 2021
Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis.
Ferlazzo E et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2016
Human genetic disorders of sphingolipid biosynthesis.
Astudillo L et al.
Journal of Inherited Metabolic Disease, 2015
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.
Vanni N et al.
Annals of Neurology, 2014
Progressive Myoclonic Epilepsy Type 8 Due to CERS1 Deficiency: A Novel Mutation with Prominent Ataxia.
Godeiro Junior CO et al.
Movement Disorders Clinical Practice, 0
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