| scholarly article | Q13442814 |
| review article | Q7318358 |
| P6179 | Dimensions Publication ID | 1051795322 |
| P356 | DOI | 10.2165/11319250-000000000-00000 |
| P8608 | Fatcat ID | release_7qa72d73fnfftdvaikky2cqh7i |
| P698 | PubMed publication ID | 20527995 |
| P2093 | author name string | Norman Delanty | |
| Thomas S Monaghan | |||
| P2860 | cites work | Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus | Q55889123 |
| Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation | Q58417024 | ||
| Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions | Q59273673 | ||
| Clinical and Genetic Findings in 26 Italian Patients with Lafora Disease | Q59696226 | ||
| Sensorimotor cortex excitability in Unverricht-Lundborg disease and Lafora body disease | Q59698136 | ||
| Movement-activated myoclonus in genetically defined progressive myoclonic epilepsies: EEG–EMG relationship estimated using autoregressive models | Q59698138 | ||
| Lafora disease (progressive myoclonic epilepsy) in the Bassett hound--possibility of early diagnosis using muscle biopsy? | Q68252711 | ||
| Myoclonic epilepsy of Lafora and arylsulphatase A deficiency in the same patient | Q69271654 | ||
| Polyglucosan bodies in the brain of the cat | Q69386003 | ||
| Sweat gland duct cells in Lafora disease: diagnosis by skin biopsy | Q71579322 | ||
| [Cerebral blood flow and metabolism in Lafora disease] | Q72313108 | ||
| "Baltic" myoclonus epilepsy: hereditary disorder of childhood made worse by phenytoin | Q72562516 | ||
| Posterior paroxysmal discharge: an aid to early diagnosis in Lafora disease | Q72579181 | ||
| Lafora disease: Diagnosis by liver biopsy | Q72871109 | ||
| Glucose metabolism evaluated by positron emission tomography in Lafora disease | Q73319374 | ||
| Superoxide dismutase and glutathione peroxidase function in progressive myoclonus epilepsies | Q73689618 | ||
| [Lafora disease and founder effect in a small neotropical locality] | Q73884970 | ||
| [Lafora's disease and movement disorders: report of 2 cases] | Q74267860 | ||
| [Progressive study of EEG and evoked potentials in Lafora disease] | Q74799148 | ||
| [Late discovery of Lafora disease: a family study] | Q77894230 | ||
| [Non-convulsive epileptic status associated with Lafora disease: two case reports] | Q79318366 | ||
| Lack of efficacy and potential aggravation of myoclonus with lamotrigine in Unverricht-Lundborg disease | Q79482697 | ||
| [Lafora's disease (EPM2)] | Q79783560 | ||
| Lafora's disease in an epileptic Basset hound | Q80398763 | ||
| Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation | Q81276977 | ||
| Escherichia coli expression, refolding and characterization of human laforin | Q82884768 | ||
| Surprises of genetic engineering: a possible model of polyglucosan body disease | Q95721485 | ||
| MRI volumetry and proton MR spectroscopy of the brain in Lafora disease | Q48560170 | ||
| Longitudinal EEG studies in a kindred with Lafora disease | Q48633885 | ||
| A pilot study of a ketogenic diet in patients with Lafora body disease | Q48635354 | ||
| Lafora disease: Liver histopathology in presymptomatic children | Q48789603 | ||
| Studies in myoclonus epilepsy. 3. The effects of amylolytic enzymes on the ultrastructure of Lafora bodies | Q48823926 | ||
| Mental deterioration in Lafora's disease | Q48962782 | ||
| Longitudinal clinicoelectrophysiologic study of a case of Lafora disease proven by skin biopsy | Q49088775 | ||
| Lafora disease: spectroscopy study correlated with neuropsychological findings. | Q50777410 | ||
| Mechanisms of unexpected and/or sudden death in Lafora disease. | Q51923675 | ||
| Familial progressive myoclonus epilepsy: clinical and electrophysiologic observations. | Q52016801 | ||
| Arylsulfatase A pseudodeficiency and Lafora bodies in a patient with progressive myoclonic epilepsy. | Q52028337 | ||
| [Lafora's disease: a possible diagnosis of juvenile dementia] | Q52051721 | ||
| Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation | Q24297363 | ||
| Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin | Q24304324 | ||
| Piracetam relieves symptoms in progressive myoclonus epilepsy: a multicentre, randomised, double blind, crossover study comparing the efficacy and safety of three dosages of oral piracetam with placebo | Q24680177 | ||
| Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice | Q28511659 | ||
| Modulation of functional properties of laforin phosphatase by alternative splicing reveals a novel mechanism for the EPM2A gene in Lafora progressive myoclonus epilepsy | Q29347518 | ||
| Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo. | Q30441600 | ||
| Recent data on Lafora disease. Apropos of 17 cases | Q30654578 | ||
| Isolation and characterization of mouse homologue for the human epilepsy gene, EPM2A. | Q30657197 | ||
| Regional and developmental expression of Epm2a gene and its evolutionary conservation | Q30668545 | ||
| Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin | Q33468448 | ||
| Extracerebral biopsies in neurodegenerative diseases of childhood | Q33752128 | ||
| A case of Lafora's disease associated with cardiac arrhythmia. | Q33792195 | ||
| Identification of new and common mutations in the EPM2A gene in Lafora disease. | Q33834500 | ||
| Long-term efficacy and safety of piracetam in the treatment of progressive myoclonus epilepsy | Q33946236 | ||
| Lafora's disease: towards a clinical, pathologic, and molecular synthesis | Q34085650 | ||
| Mutations in NHLRC1 cause progressive myoclonus epilepsy | Q34228381 | ||
| Lafora disease due to EPM2B mutations: a clinical and genetic study. | Q34405204 | ||
| Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy | Q34444806 | ||
| Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes | Q34447224 | ||
| Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy | Q34563110 | ||
| Lafora disease | Q34574721 | ||
| The maestro don Gonzalo Rodríguez-Lafora | Q34749044 | ||
| Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy | Q34754070 | ||
| Selective presence of ubiquitin in intracellular inclusions | Q35130070 | ||
| Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22 | Q35443679 | ||
| Lafora disease: a progressive myoclonus epilepsy | Q35605625 | ||
| Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects | Q36075070 | ||
| Advances in lafora progressive myoclonus epilepsy | Q36926065 | ||
| Absence of clinical or physiological changes during short-term cerebellar stimulation in a patient with Lafora body disease | Q37009191 | ||
| Progressive familial myoclonus epilepsy | Q37038204 | ||
| Myoclonus epilepsy with cerebellar Lafora bodies. Report of a case | Q37042637 | ||
| Debate: Does genetic information in humans help us treat patients? PRO--genetic information in humans helps us treat patients. CON--genetic information does not help at all. | Q37352124 | ||
| Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora disease. | Q37371631 | ||
| Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease | Q37378315 | ||
| Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes | Q37408209 | ||
| Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22 | Q37494639 | ||
| The autosomal recessively inherited progressive myoclonus epilepsies and their genes | Q37496007 | ||
| Lafora disease: insights into neurodegeneration from plant metabolism | Q37612219 | ||
| Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment | Q40163305 | ||
| Dimerization of Laforin is required for its optimal phosphatase activity, regulation of GSK3beta phosphorylation, and Wnt signaling | Q40232391 | ||
| Epilepsy evaluation by electroencephalography and magnetoencephalography in Lafora-body disease: a case report | Q40547965 | ||
| Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy | Q40599396 | ||
| Familial Lafora body disease of late onset: report of four cases in one family and a review of the literature | Q41328598 | ||
| Neuropharmacology of progressive myoclonus epilepsy: response to 5-hydroxy-L-tryptophan | Q41666470 | ||
| Lafora disease as a cause of visually exacerbated myoclonic attacks in a dog. | Q41821957 | ||
| Axilla skin biopsy: a reliable test for the diagnosis of Lafora's disease | Q41971689 | ||
| Zonisamide for progressive myoclonus epilepsy: long-term observations in seven patients | Q42544838 | ||
| Glycogen metabolism in tissues from a mouse model of Lafora disease | Q42732419 | ||
| Posterior glucose hypometabolism in Lafora disease: early and late FDG-PET assessment | Q43159123 | ||
| Short and long interval cortical inhibition in patients with Unverricht-Lundborg and Lafora body disease | Q43179551 | ||
| Lafora disease and congenital generalized lipodystrophy: a case report. | Q43232784 | ||
| 22-year-old girl with status epilepticus and progressive neurological symptoms | Q43278573 | ||
| Long-term observations of two siblings with Lafora disease treated with zonisamide | Q43716943 | ||
| Lafora body-like inclusions in a case of progressive myoclonic ataxia associated with coeliac disease | Q43764782 | ||
| Comparative study of intraneuronal polyglucosan bodies in brains from patients with Lafora disease and aged dogs | Q43944076 | ||
| Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype. | Q43999068 | ||
| Common dopaminergic mechanism for epileptic photosensitivity in progressive myoclonus epilepsies | Q44330283 | ||
| Bioptically demonstrated Lafora disease without EPM2A mutation: a clinical and neurophysiological study of two sisters | Q44672936 | ||
| Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls | Q44685058 | ||
| The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies. | Q44714579 | ||
| A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit. | Q44792027 | ||
| The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q. | Q46070404 | ||
| Reassessment of phenytoin for treatment of late stage progressive myoclonus epilepsy complicated with status epilepticus | Q46096842 | ||
| MR spectroscopy findings in Lafora disease | Q46223965 | ||
| The malin-laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system | Q46226476 | ||
| Polyglucosan storage disease in a dog resembling Lafora's disease | Q46239932 | ||
| Nonepileptic visual hallucinations in Lafora disease | Q46433165 | ||
| Lafora-body disease with optic atrophy, macular degeneration and cardiac failure | Q46471490 | ||
| Subcutaneous midazolam infusion and Lafora disease | Q46505268 | ||
| Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population. | Q46602122 | ||
| Lafora-like ground-glass inclusions in hepatocytes of pediatric patients: a report of two cases | Q46955296 | ||
| Progressive myoclonus epilepsy in a beagle | Q48136513 | ||
| Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora | Q48192052 | ||
| Unusual presentation of Lafora's disease | Q48217301 | ||
| Lafora disease: a quantitative morphological and biochemical study of the cerebral cortex. | Q48253602 | ||
| An unusual case of Lafora body disease | Q48271746 | ||
| Late-onset Lafora's disease with typical intraneuronal inclusions | Q48279339 | ||
| Lafora's disease in south India: a clinical, electrophysiologic, and pathologic study | Q48293554 | ||
| Uncommon types of polyglucosan bodies in the human brain: distribution and relation to disease | Q48376127 | ||
| Brainstem auditory evoked responses in Lafora disease | Q48450492 | ||
| Lafora bodies associated with neurologic signs in a cat. | Q48464197 | ||
| Fixation-sensitive myoclonus in Lafora disease | Q48527511 | ||
| Lafora's disease: peroxisomal storage in skeletal muscle | Q48554012 | ||
| P433 | issue | 7 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | Lafora disease | Q163905 |
| pathophysiology | Q1135939 | ||
| P304 | page(s) | 549-561 | |
| P577 | publication date | 2010-07-01 | |
| P1433 | published in | CNS Drugs | Q5013183 |
| P1476 | title | Lafora disease: epidemiology, pathophysiology and management | |
| P478 | volume | 24 |
| Q37394687 | A bioassay for Lafora disease and laforin glucan phosphatase activity. |
| Q38165139 | Broad spectrum of hepatocyte inclusions in humans, animals, and experimental models |
| Q34902869 | Dimerization of the glucan phosphatase laforin requires the participation of cysteine 329. |
| Q38567879 | Getting a handle on glycogen synthase - Its interaction with glycogenin |
| Q42036618 | Homeostasis of the astrocytic glutamate transporter GLT-1 is altered in mouse models of Lafora disease |
| Q24301912 | Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency |
| Q41886528 | Inflammation in Lafora Disease: Evolution with Disease Progression in Laforin and Malin Knock-out Mouse Models |
| Q90523277 | Lafora Disease: A Ubiquitination-Related Pathology |
| Q91580705 | Links between autophagy and disorders of glycogen metabolism - Perspectives on pathogenesis and possible treatments |
| Q28306818 | Loss of GABAergic cortical neurons underlies the neuropathology of Lafora disease |
| Q42142638 | Pharmacological Interventions to Ameliorate Neuropathological Symptoms in a Mouse Model of Lafora Disease |
| Q55334460 | Progressive Myoclonic Epilepsy Due to Lafora Body Disease with a Novel Mutation. |
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