{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T21:52:09Z","timestamp":1790805129107,"version":"4.1.0"},"reference-count":63,"publisher":"Oxford University Press (OUP)","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012,9]]},"DOI":"10.1093\/brain\/aws205","type":"journal-article","created":{"date-parts":[[2012,9,8]],"date-time":"2012-09-08T03:04:46Z","timestamp":1347073486000},"page":"2684-2698","source":"Crossref","is-referenced-by-count":83,"title":["Early-onset Lafora body disease"],"prefix":"10.1093","volume":"135","author":[{"given":"Julie","family":"Turnbull","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Marie","family":"Girard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannes","family":"Lohi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elayne M.","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peixiang","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica","family":"Tiberia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salah","family":"Omer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mushtaq","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Bennett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aruna","family":"Chakrabarty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atul","family":"Tyagi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nela","family":"Pencea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"XiaoChu","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen W.","family":"Scherer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cameron A.","family":"Ackerley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berge A.","family":"Minassian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2012,8,29]]},"reference":[{"key":"key\n\t\t\t\t20170425185407_aws205-B1","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/ng786","article-title":"Merlin\u2014rapid analysis of dense genetic maps using sparse gene flow trees","volume":"30","author":"Abecasis","year":"2002","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20170425185407_aws205-B2","doi-asserted-by":"crossref","first-page":"1611","DOI":"10.1212\/01.WNL.0000096017.19978.CB","article-title":"Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls","volume":"61","author":"Andrade","year":"2003","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170425185407_aws205-B3","doi-asserted-by":"crossref","first-page":"1311","DOI":"10.1212\/01.WNL.0000156907.49247.05","article-title":"Nonepileptic visual hallucinations in Lafora disease","volume":"64","author":"Andrade","year":"2005","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170425185407_aws205-B4","doi-asserted-by":"crossref","first-page":"2173","DOI":"10.1093\/brain\/awh263","article-title":"Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder","volume":"127","author":"Badhwar","year":"2004","journal-title":"Brain"},{"key":"key\n\t\t\t\t20170425185407_aws205-B5","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1016\/j.ajhg.2008.10.003","article-title":"A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome","volume":"83","author":"Bassuk","year":"2008","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20170425185407_aws205-B6","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1016\/j.ajhg.2007.12.019","article-title":"Array-based gene discovery with three unrelated subjects shows SCARB2\/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis","volume":"82","author":"Berkovic","year":"2008","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20170425185407_aws205-B7","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.ymgme.2007.08.124","article-title":"CLN2\/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype","volume":"93","author":"Bessa","year":"2008","journal-title":"Mol Genet Metab"},{"key":"key\n\t\t\t\t20170425185407_aws205-B8","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.ymgme.2006.04.010","article-title":"Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency","volume":"89","author":"Bessa","year":"2006","journal-title":"Mol Genet Metab"},{"key":"key\n\t\t\t\t20170425185407_aws205-B9","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1007\/s12013-008-9008-5","article-title":"Keep your fingers off my DNA: protein\u2013protein interactions mediated by C2H2 zinc finger domains","volume":"50","author":"Brayer","year":"2008","journal-title":"Cell Biochem Biophys"},{"key":"key\n\t\t\t\t20170425185407_aws205-B10","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1002\/ana.410210613","article-title":"Axilla skin biopsy: a reliable test for the diagnosis of Lafora\u2019s disease","volume":"21","author":"Busard","year":"1987","journal-title":"Ann Neurol"},{"key":"key\n\t\t\t\t20170425185407_aws205-B11","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1016\/j.eplepsyres.2011.01.013","article-title":"Characterization of severe action myoclonus in sialidoses","volume":"94","author":"Canafoglia","year":"2011","journal-title":"Epilepsy Res"},{"key":"key\n\t\t\t\t20170425185407_aws205-B12","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1016\/j.bbrc.2008.12.159","article-title":"Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6","volume":"379","author":"Cannelli","year":"2009","journal-title":"Biochem Biophys Res Commun"},{"key":"key\n\t\t\t\t20170425185407_aws205-B13","doi-asserted-by":"crossref","first-page":"1564","DOI":"10.1212\/WNL.31.12.1564","article-title":"Sweat gland duct cells in Lafora disease: diagnosis by skin biopsy","volume":"31","author":"Carpenter","year":"1981","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170425185407_aws205-B14","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1212\/WNL.24.6.531","article-title":"Lafora\u2019s disease: peroxisomal storage in skeletal muscle","volume":"24","author":"Carpenter","year":"1974","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170425185407_aws205-B15","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/S0165-0173(99)00003-X","article-title":"Corpora-amylacea and the family of polyglucosan diseases","volume":"29","author":"Cavanagh","year":"1999","journal-title":"Brain Res Brain Res Rev"},{"key":"key\n\t\t\t\t20170425185407_aws205-B16","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1093\/hmg\/ddh130","article-title":"Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy","volume":"13","author":"Chan","year":"2004","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t20170425185407_aws205-B17","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1136\/jmg.40.9.671","article-title":"Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22","volume":"40","author":"Chan","year":"2003","journal-title":"J Med Genet"},{"key":"key\n\t\t\t\t20170425185407_aws205-B18","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1212\/01.WNL.0000133215.65836.03","article-title":"Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus","volume":"63","author":"Chan","year":"2004","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170425185407_aws205-B19","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1038\/ng1238","article-title":"Mutations in NHLRC1 cause progressive myoclonus epilepsy","volume":"35","author":"Chan","year":"2003","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20170425185407_aws205-B20","doi-asserted-by":"crossref","first-page":"2399","DOI":"10.1101\/gad.1553207","article-title":"A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori\u2019s disease","volume":"21","author":"Cheng","year":"2007","journal-title":"Genes Dev"},{"key":"key\n\t\t\t\t20170425185407_aws205-B21","doi-asserted-by":"crossref","DOI":"10.1111\/j.1742-4658.2009.07221.x","article-title":"The carbohydrate-binding module family 20\u2014diversity, structure, and function","author":"Christiansen","year":"2009","journal-title":"FEBS J"},{"key":"key\n\t\t\t\t20170425185407_aws205-B22","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/j.ajhg.2011.04.011","article-title":"A mutation in the Golgi Qb-SNARE Gene GOSR2 causes progressive myoclonus epilepsy with early ataxia","volume":"88","author":"Corbett","year":"2011","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20170425185407_aws205-B23","doi-asserted-by":"crossref","first-page":"2626","DOI":"10.1128\/MCB.26.7.2626-2636.2006","article-title":"PRISM\/PRDM6, a transcriptional repressor that promotes the proliferative gene program in smooth muscle cells","volume":"26","author":"Davis","year":"2006","journal-title":"Mol Cell Biol"},{"key":"key\n\t\t\t\t20170425185407_aws205-B24","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1002\/ana.21765","article-title":"SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure","volume":"66","author":"Dibbens","year":"2009","journal-title":"Ann Neurol"},{"key":"key\n\t\t\t\t20170425185407_aws205-B25","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.bbrc.2009.07.134","article-title":"Histone methyltransferase PRDM8 regulates mouse testis steroidogenesis","volume":"388","author":"Eom","year":"2009","journal-title":"Biochem Biophys Res Commun"},{"key":"key\n\t\t\t\t20170425185407_aws205-B26","doi-asserted-by":"crossref","first-page":"3161","DOI":"10.1093\/hmg\/ddg340","article-title":"Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation","volume":"12","author":"Fernandez-Sanchez","year":"2003","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t20170425185407_aws205-B27","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1093\/hmg\/11.11.1251","article-title":"Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice","volume":"11","author":"Ganesh","year":"2002","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t20170425185407_aws205-B28","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1093\/hmg\/11.11.1263","article-title":"Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype","volume":"11","author":"Ganesh","year":"2002","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t20170425185407_aws205-B29","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1038\/75514","article-title":"Allegro, a new computer program for multipoint linkage analysis","volume":"25","author":"Gudbjartsson","year":"2000","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20170425185407_aws205-B30","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1038\/nature04112","article-title":"A histone H3 methyltransferase controls epigenetic events required for meiotic prophase","volume":"438","author":"Hayashi","year":"2005","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170425185407_aws205-B31","first-page":"7619","article-title":"Inactivation of a histone methyltransferase by mutations in human cancers","volume":"63","author":"Kim","year":"2003","journal-title":"Cancer Res"},{"key":"key\n\t\t\t\t20170425185407_aws205-B32","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1093\/brain\/awn366","article-title":"Mutations in CLN7\/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis","volume":"132","author":"Kousi","year":"2009","journal-title":"Brain"},{"key":"key\n\t\t\t\t20170425185407_aws205-B33","first-page":"1347","article-title":"Parametric and nonparametric linkage analysis: a unified multipoint approach","volume":"58","author":"Kruglyak","year":"1996","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20170425185407_aws205-B34","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/BF02863929","article-title":"Beitrag zur Histopathologie der myoklonischen Epilepsie","volume":"6","author":"Lafora","year":"1911","journal-title":"Zeitschrift Gesamte Neurologische Psychiatrie"},{"key":"key\n\t\t\t\t20170425185407_aws205-B35","first-page":"460","article-title":"Easy calculations of lod scores and genetic risks on small computers","volume":"36","author":"Lathrop","year":"1984","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20170425185407_aws205-B36","doi-asserted-by":"crossref","first-page":"3443","DOI":"10.1073\/pnas.81.11.3443","article-title":"Strategies for multilocus linkage analysis in humans","volume":"81","author":"Lathrop","year":"1984","journal-title":"Proc Natl Acad Sci USA"},{"key":"key\n\t\t\t\t20170425185407_aws205-B37","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1111\/j.1528-1157.1999.tb00895.x","article-title":"Progressive myoclonus epilepsy of Unverricht\u2013Lundborg type","volume":"40","author":"Lehesjoki","year":"1999","journal-title":"Epilepsia"},{"key":"key\n\t\t\t\t20170425185407_aws205-B38","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1002\/ana.410440604","article-title":"Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene","volume":"44","author":"Lossos","year":"1998","journal-title":"Ann Neurol"},{"key":"key\n\t\t\t\t20170425185407_aws205-B39","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/S0887-8994(00)00276-9","article-title":"Lafora\u2019s disease: towards a clinical, pathologic, and molecular synthesis","volume":"25","author":"Minassian","year":"2001","journal-title":"Pediatr Neurol"},{"key":"key\n\t\t\t\t20170425185407_aws205-B40","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/2470","article-title":"Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy","volume":"20","author":"Minassian","year":"1998","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20170425185407_aws205-B41","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1007\/s10545-011-9323-7","article-title":"Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients","volume":"34","author":"Perez-Poyato","year":"2011","journal-title":"J Inherit Metab Dis"},{"key":"key\n\t\t\t\t20170425185407_aws205-B42","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1038\/35020506","article-title":"Regulation of chromatin structure by site-specific histone H3 methyltransferases","volume":"406","author":"Rea","year":"2000","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170425185407_aws205-B43","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1016\/j.cell.2007.10.018","article-title":"LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase","volume":"131","author":"Reczek","year":"2007","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170425185407_aws205-B44","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1111\/j.1399-0004.2009.01285.x","article-title":"Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis","volume":"77","author":"Reinhardt","year":"2010","journal-title":"Clin Genet"},{"key":"key\n\t\t\t\t20170425185407_aws205-B45","doi-asserted-by":"crossref","first-page":"101","DOI":"10.2174\/1566524024605761","article-title":"Glycogen and its metabolism","volume":"2","author":"Roach","year":"2002","journal-title":"Curr Mol Med"},{"key":"key\n\t\t\t\t20170425185407_aws205-B46","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1093\/brain\/103.2.315","article-title":"A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora's disease and normal ageing","volume":"103","author":"Robitaille","year":"1980","journal-title":"Brain"},{"key":"key\n\t\t\t\t20170425185407_aws205-B47","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1016\/j.neuron.2011.09.035","article-title":"Bhlhb5 and Prdm8 form a repressor complex involved in neuronal circuit assembly","volume":"73","author":"Ross","year":"2012","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20170425185407_aws205-B48","first-page":"365","article-title":"Primer3 on the WWW for general users and for biologist programmers","volume":"132","author":"Rozen","year":"2000","journal-title":"Methods Mol Biol"},{"key":"key\n\t\t\t\t20170425185407_aws205-B50","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1212\/WNL.20.2.160","article-title":"Studies in myoclonus epilepsy (Lafora body form): II. Polyglucosans in the systemic deposits of myoclonus epilepsy and in corpora amylacea","volume":"20","author":"Sakai","year":"1970","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170425185407_aws205-B51","doi-asserted-by":"crossref","first-page":"2277","DOI":"10.1242\/jcs.082800","article-title":"Malin and laforin are essential components of a protein complex that protects cells from thermal stress","volume":"124","author":"Sengupta","year":"2011","journal-title":"J Cell Sci"},{"key":"key\n\t\t\t\t20170425185407_aws205-B52","doi-asserted-by":"crossref","first-page":"E1","DOI":"10.1002\/humu.20737","article-title":"Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin","volume":"29","author":"Singh","year":"2008","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t20170425185407_aws205-B53","article-title":"Regulation of glycogen synthesis","volume-title":"Diabetes mellitus: a fundamental and clinical text","author":"Skurat","year":"2004","edition":"3 edn"},{"key":"key\n\t\t\t\t20170425185407_aws205-B54","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1093\/hmg\/ddm339","article-title":"Regulation of glycogen synthesis by the laforin-malin complex is modulated by the AMP-activated protein kinase pathway","volume":"17","author":"Solaz-Fuster","year":"2008","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t20170425185407_aws205-B55","doi-asserted-by":"crossref","first-page":"33816","DOI":"10.1074\/jbc.M807428200","article-title":"Abnormal metabolism of glycogen phosphate as a cause for Lafora disease","volume":"283","author":"Tagliabracci","year":"2008","journal-title":"J Biol Chem"},{"key":"key\n\t\t\t\t20170425185407_aws205-B56","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1016\/j.cmet.2011.01.017","article-title":"Phosphate incorporation during glycogen synthesis and Lafora disease","volume":"13","author":"Tagliabracci","year":"2011","journal-title":"Cell Metab"},{"key":"key\n\t\t\t\t20170425185407_aws205-B57","doi-asserted-by":"crossref","first-page":"19262","DOI":"10.1073\/pnas.0707952104","article-title":"Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo","volume":"104","author":"Tagliabracci","year":"2007","journal-title":"Proc Natl Acad Sci USA"},{"key":"key\n\t\t\t\t20170425185407_aws205-B58","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1111\/j.1528-1157.1983.tb04881.x","article-title":"Visual ictal phenomena in a case of Lafora disease proven by skin biopsy","volume":"24","author":"Tinuper","year":"1983","journal-title":"Epilepsia"},{"key":"key\n\t\t\t\t20170425185407_aws205-B59","doi-asserted-by":"crossref","first-page":"e1002037","DOI":"10.1371\/journal.pgen.1002037","article-title":"PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease","volume":"7","author":"Turnbull","year":"2011","journal-title":"PLoS Genet"},{"key":"key\n\t\t\t\t20170425185407_aws205-B60","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1002\/ana.22156","article-title":"Glycogen hyperphosphorylation underlies lafora body formation","volume":"68","author":"Turnbull","year":"2010","journal-title":"Ann Neurol"},{"key":"key\n\t\t\t\t20170425185407_aws205-B61","article-title":"Die myoklonie. Leipzig and Vienna","author":"Unverricht","year":"1891"},{"key":"key\n\t\t\t\t20170425185407_aws205-B62","article-title":"Lafora disease, a form of progressive myoclonus epilepsy","author":"Van Heycop Ten Ham","year":"1975"},{"key":"key\n\t\t\t\t20170425185407_aws205-B63","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1038\/nn1998","article-title":"Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy","volume":"10","author":"Vilchez","year":"2007","journal-title":"Nat Neurosci"},{"key":"key\n\t\t\t\t20170425185407_aws205-B64","doi-asserted-by":"crossref","first-page":"4069","DOI":"10.1074\/jbc.M708712200","article-title":"Malin decreases glycogen accumulation by promoting the degradation of PTG","volume":"283","author":"Worby","year":"2008","journal-title":"J Biol Chem"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/135\/9\/2684\/13795149\/aws205.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,22]],"date-time":"2017-08-22T16:13:42Z","timestamp":1503418422000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article-lookup\/doi\/10.1093\/brain\/aws205"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,8,29]]},"references-count":63,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2012,8,29]]},"published-print":{"date-parts":[[2012,9]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/aws205","relation":{},"ISSN":["1460-2156","0006-8950"],"issn-type":[{"value":"1460-2156","type":"electronic"},{"value":"0006-8950","type":"print"}],"subject":[],"published":{"date-parts":[[2012,8,29]]}}}