Recent Publications on Lafora Disease: |  |
Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin.
Lafora disease (LD) is a fatal form of teenage-onset autosomal recessive...
Direct Link | 17th July, 2008
| Department of Biological Sciences and Bioengineering, Indian Institute of
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Modulation of functional properties of laforin phosphatase by alternative splicing reveals a novel mechanism for the EPM2A gene in Lafora progressive myoclonus epilepsy.
The EPM2A gene, encoding the dual-phosphatase laforin, is mutated in a...
Direct Link | 12th July, 2008
| Department of Biological Sciences and Bioengineering, Indian Institute of
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| [Subcutaneous midazolam infusion and Lafora disease]
| 4th July, 2008
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The maestro don Gonzalo Rodriguez-Lafora.
Gonzalo Rodriguez-Lafora (1886-1971) was an influential Spanish...
Direct Link | 26th June, 2008
| Department of Neurological Surgery, University of California, Irvine,
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Malin decreases glycogen accumulation by promoting the degradation of protein targeting to glycogen (PTG).
Lafora disease (LD) is an autosomal recessive neurodegenerative disease...
Direct Link | 6th May, 2008
| Department of Pharmacology, University of California at San Diego, La
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Typical progression of myoclonic epilepsy of the Lafora type: a case report.
BACKGROUND: A 20-year-old woman presented to a specialist epilepsy center...
Direct Link | 9th April, 2008
| Division of Neurology, The Hospital for Sick Children, 555 University
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Lafora progressive myoclonus epilepsy: disease course homogeneity in a genetic isolate.
Lafora epilepsy is characterized by starch formation in brain and skin and...
Direct Link | 26th March, 2008
| Program in Genetics and Genome Biology, The Hospital for Sick Children,
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| Lafora disease, seizures and sugars.
| 7th February, 2008
| Division of Neurology, Krembil Neuroscience Centre, University of Toronto,
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Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy.
Glycogen synthesis is normally absent in neurons. However, inclusion...
Direct Link | 2nd February, 2008
| Institute for Research in Biomedicine and University of Barcelona,
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Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo.
Lafora disease is a progressive myoclonus epilepsy with onset typically in...
Direct Link | 19th January, 2008
| Department of Biochemistry and Molecular Biology, Indiana University
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[Lafora's disease presenting with progressive myoclonus epilepsy]
Lafora's disease is a progressive myoclonus epilepsy and must be evocated...
Direct Link | 17th January, 2008
| Service
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Epilepsy and inborn errors of metabolism in adults: a diagnostic approach.
Inborn errors of metabolism (IEMs) represent poorly known causes of...
Direct Link | 9th January, 2008
| Federation of Nervous System Diseases, Reference Center for Lysosomal
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A 12-year-old girl with seizures and dementia.
We report 2 cases of ground-glass hepatocyte inclusions occurring in...
Direct Link | 22nd December, 2007
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Lafora-like ground-glass inclusions in hepatocytes of pediatric patients: a report of two cases.
We report 2 cases of ground-glass hepatocyte inclusions occurring in...
Direct Link | 13th December, 2007
| Department of Pathology and Laboratory Medicine, The Mount Sinai Hospital,
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Lafora disease: spectroscopy study correlated with neuropsychological findings.
PURPOSE: To evaluate the metabolic changes both in grey and white matter...
Direct Link | 8th December, 2007
| Neuroradiology Department, Neurological Institute IRCCS Fondazione
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