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A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).
Progressive myoclonus epilepsy of the Lafora type or Lafora disease (EPM2; McKusick no. 254780) is an autosomal recessive disorder characterized by epilepsy, myoclonus, progressive neurologicalExpand
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Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation.
Progressive myoclonus epilepsy of Lafora type (LD, MIM 254780) is a fatal autosomal recessive disorder characterized by the presence of progressive neurological deterioration, myoclonus, epilepsy andExpand
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Lafora disease due to EPM2B mutations
Objective: To study EPM2B gene mutations and genotype-phenotype correlations in patients with Lafora disease. Methods: The authors performed a clinical and mutational analysis of 25 patients, from 23Expand
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GBA Variants Influence Motor and Non-Motor Features of Parkinson’s Disease
The presence of mutations in glucocerebrosidase (GBA) gene is a known factor increasing the risk of developing Parkinson’s disease (PD). Mutations carriers have earlier disease onset and are moreExpand
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Familial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12
Summary:  Background: Familial partial epilepsy with variable foci (FPEVF) is an autosomal dominant syndrome characterized by partial seizures originating from different brain regions in differentExpand
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Genetic variability related to serum uric acid concentration and risk of Parkinson's disease
Low serum uric acid (UA) levels have been associated with increased Parkinson's disease (PD) risk and accelerated disease progression. We analyzed the effect of polymorphisms in 9 genes influencingExpand
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Prevalence and clinical features of LRRK2 mutations in patients with Parkinson’s disease in southern Spain
Background and purpose: Mutations in leucine‐rich repeat kinase 2 (LRRK2) gene are associated with both familial and idiopathic Parkinson’s disease (PD), whereas mutations in PARK2 (PARKIN) geneExpand
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Low serum uric acid concentration in Parkinson's disease in southern Spain
Uric acid (UA) is thought to have an antioxidant effect on the central nervous system and may also prevent cerebral damage induced by oxidative stress. Our study aimed to investigate whether patientsExpand
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Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions
Progressive myoclonus epilepsy of the Lafora type (Lafora disease) is an autosomal recessive disease characterised by epilepsy, myoclonus, progressive neurological deterioration and the presence ofExpand
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Variability of age at onset in siblings with familial Alzheimer disease.
BACKGROUND Variability of age at onset (AO) of Alzheimer disease (AD) among members of the same family is important as a biological clue and because of its clinical effects. OBJECTIVE To evaluateExpand
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