| scholarly article | Q13442814 |
| P356 | DOI | 10.1002/MDS.22489 |
| P698 | PubMed publication ID | 19243074 |
| P2093 | author name string | Pierre Genton | |
| Placido Bramanti | |||
| Paolo Di Bella | |||
| Edoardo Ferlazzo | |||
| Domenico Italiano | |||
| Virginie Laguitton | |||
| Tiziana Calarese | |||
| Isabelle An | |||
| P2860 | cites work | A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping | Q58417079 |
| A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome | Q24310789 | ||
| Mitochondrial DNA mutations in human disease. | Q34386730 | ||
| Mutation of a potassium channel-related gene in progressive myoclonic epilepsy | Q34622306 | ||
| POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection | Q34743810 | ||
| Advances in lafora progressive myoclonus epilepsy | Q36926065 | ||
| Unverricht-Lundborg disease, a condition with self-limited progression: long-term follow-up of 20 patients. | Q39202883 | ||
| Progressive myoclonic ataxia associated with coeliac disease. The myoclonus is of cortical origin, but the pathology is in the cerebellum | Q40381552 | ||
| Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy | Q46671976 | ||
| Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy | Q48050907 | ||
| Long-term evolution of EEG in Unverricht-Lundborg disease | Q48483192 | ||
| Biotinidase deficiency: initial clinical features and rapid diagnosis. | Q50582092 | ||
| Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation. | Q51932596 | ||
| P433 | issue | 7 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | progressive myoclonus epilepsy | Q7248853 |
| cognitive dysfunction | Q57859955 | ||
| P304 | page(s) | 1016-1022 | |
| P577 | publication date | 2009-05-01 | |
| P1433 | published in | Movement Disorders | Q1486418 |
| P1476 | title | Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment | |
| P478 | volume | 24 |
| Q90370648 | Acid ceramidase deficiency: Farber disease and SMA-PME |
| Q100737182 | Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy |
| Q64974361 | Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure. |
| Q39000126 | Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy. |
| Q91876475 | Progressive Myoclonic Epilepsy Type 8 Due to CERS1 Deficiency: A Novel Mutation with Prominent Ataxia |
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