| case report | Q2782326 |
| scholarly article | Q13442814 |
| P50 | author | José Luiz Pedroso | Q86298759 |
| P2093 | author name string | Fernando Kok | |
| Orlando G Barsottini | |||
| Thiago Cardoso Vale | |||
| Clécio de Oliveira Godeiro Junior | |||
| Cintia Oliveira de Melo Afonso | |||
| P2860 | cites work | A deficiency of ceramide biosynthesis causes cerebellar purkinje cell neurodegeneration and lipofuscin accumulation | Q27340503 |
| Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy | Q34418788 | ||
| Progressive myoclonus epilepsy | Q38102279 | ||
| Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy. | Q39000126 | ||
| Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment | Q39002502 | ||
| The role of the cerebellum in the pathogenesis of cortical myoclonus | Q58049611 | ||
| P433 | issue | 3 | |
| P921 | main subject | myoclonic epilepsy | Q11883686 |
| progressive myoclonic epilepsy type 8 | Q55784875 | ||
| P304 | page(s) | 330-332 | |
| P577 | publication date | 2018-03-30 | |
| P1433 | published in | Movement disorders clinical practice | Q27725493 |
| P1476 | title | Progressive Myoclonic Epilepsy Type 8 Due to CERS1 Deficiency: A Novel Mutation with Prominent Ataxia | |
| P478 | volume | 5 |
| Q89944674 | Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content |
| Q91714140 | The Link between Gaucher Disease and Parkinson's Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism |
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