We report an atypical presentation LaFora disease in a Senegalese girl carrying homozygous variant, c.560A> C, in the gene NHLRC1. At 13 years, patients developed
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- Treatment with metformin in twelve patients with Lafora disease.
- Regulation of the autophagic PI3KC3 complex by laforin/malin E3-ubiquitin ligase, two proteins involved in Lafora disease.
- FDG-PET assessment and metabolic patterns in Lafora disease.
- Early Parkinsonism in a Senegalese girl with Lafora disease.
- Genotypes and phenotypes of patients with Lafora disease living in Germany
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