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Neuropediatrics, ISSN 0174-304X, 12/2018, Volume 49, Issue 6, pp. 357 - 362
Abstract Lafora's disease is a neurodegenerative disorder caused by recessive loss-of-function mutations in the EPM2A (laforin glycogen phosphatase) or EPM2B... 
Review Article | UNDERLIES | Lafora Disease | PHOSPHATASE | DEPLETION | ASTROCYTES | CLINICAL NEUROLOGY | POLYGLUCOSAN BODY DISEASE | GLYCOGEN | polyglucosan body | BODIES | HYPERPHOSPHORYLATION | PEDIATRICS | ACCUMULATION | MUTATIONS | progressive myoclonus epilepsy
Journal Article
Brain, ISSN 0006-8950, 03/2014, Volume 137, Issue 3, pp. 646 - 648
Journal Article
Journal Article
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 09/2017, Volume 21, Issue 5, pp. 699 - 700
Journal Article
Seizure: European Journal of Epilepsy, ISSN 1059-1311, 10/2019, Volume 71, pp. 247 - 257
Progressive Myoclonus Epilepsies (PMEs) are a group of uncommon clinically and genetically heterogeneous disorders characterised by myoclonus, generalized... 
Journal Article
Neurology, ISSN 0028-3878, 09/2016, Volume 87, Issue 13, pp. 1417 - 1419
X-linked myopathy with excessive autophagy (XMEA) is a childhood-onset, slowly progressive myopathy leading to lost ambulation after age 50 years. super(1) It... 
Journal Article
JAMA Neurology, ISSN 2168-6149, 04/2015, Volume 72, Issue 4, p. 441
  We describe a deep intronic mutation in adult polyglucosan body disease. Similar mechanisms can also explain manifesting heterozygous cases in other inborn... 
Genes | Mutation | Enzyme kinetics | Patients | Metabolic disorders
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 02/2013, Volume 368, Issue 6, p. 543
  We describe a disease encompassing infantile-onset movement disorder (including severe parkinsonism and nonambulation), mood disturbance, autonomic... 
Journal Article
Muscle & Nerve, ISSN 0148-639X, 07/2014, Volume 50, Issue 1, pp. 138 - 144
Journal Article
Annals of Neurology, ISSN 0364-5134, 03/2014, Volume 75, Issue 3, pp. 442 - 446
Journal Article
Frontiers in Pediatrics, ISSN 2296-2360, 2019, Volume 6, p. 424
Lafora disease (LD) is a rare autosomal recessive disorder characterized by progressive myoclonic epilepsy followed by continuous neurological decline,... 
EPM2A | Insulin resistance | Diabetes | Glycogen metabolism | EPM2B/NHLRC1 | Lafora disease | PROTEIN PHOSPHATASE-1 | MALIN COMPLEX | glycogen metabolism | LIVER-GLYCOGEN | GLYCOGEN-SYNTHESIS | GLUCOSE | LEADS | PEDIATRICS | ACCUMULATION | MUTATIONS | insulin resistance | diabetes | SUBUNIT
Journal Article
Annals of Clinical and Translational Neurology, ISSN 2328-9503, 12/2018, Volume 5, Issue 12, pp. 1617 - 1621
We report a family of Saudi Arabian ancestry with two children presenting with global developmental delay, dystonia, disturbed sleep, and heat intolerance. By... 
Patents | Medical research | Sleep | Brain research | Hospitals | Epilepsy | Diagnostic tests | Genomics | Genes | Manufacturers | Families & family life | Genomes
Journal Article
G3: Genes|Genomes|Genetics, ISSN 2160-1836, 04/2018, Volume 8, Issue 4, pp. 1115 - 1118
Journal Article
Annals of Clinical and Translational Neurology, ISSN 2328-9503, 12/2018, Volume 5, Issue 12, pp. 1617 - 1621
We report a family of Saudi Arabian ancestry with two children presenting with global developmental delay, dystonia, disturbed sleep, and heat intolerance. By... 
EXOMES | NEUROSCIENCES | CLINICAL NEUROLOGY | REVEALS
Journal Article
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