{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T12:38:31Z","timestamp":1788871111051,"version":"build-2803163510"},"reference-count":35,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2007,11,9]],"date-time":"2007-11-09T00:00:00Z","timestamp":1194566400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Fondazione Santa Lucia and Ministero dell'Universit\u00e0 e Ricerca Scientifica","award":["COFIN-2005060584"],"award-info":[{"award-number":["COFIN-2005060584"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2008,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Adult polyglucosan body disease (APBD) is characterized by the accumulation of insoluble glucose polymers within the central and peripheral nervous systems. A common missense mutation in the glycogen branching enzyme (\n                    <jats:italic>GBE1<\/jats:italic>\n                    ) gene has been identified in Ashkenazi patients with APBD. We report on a non\u2010Jewish patient with APBD on whom we performed proton magnetic resonance spectroscopic imaging of the brain. GBE activity in fibroblasts was markedly reduced, and a novel heterozygous mutation was identified in the\n                    <jats:italic>GBE1<\/jats:italic>\n                    gene. Our findings widen the spectrum of APBD genotypes, underline the importance of performing GBE analysis in all APBD patients, and suggest that brain white matter degeneration in APBD may result from tissue damage involving axons and myelin. Muscle Nerve, 2007\n                  <\/jats:p>","DOI":"10.1002\/mus.20916","type":"journal-article","created":{"date-parts":[[2007,11,9]],"date-time":"2007-11-09T14:55:37Z","timestamp":1194620137000},"page":"530-536","source":"Crossref","is-referenced-by-count":26,"title":["Adult polyglucosan body disease: Proton magnetic resonance spectroscopy of the brain and novel mutation in the\n                    <i>GBE1<\/i>\n                    gene"],"prefix":"10.1002","volume":"37","author":[{"given":"Roberto","family":"Massa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Bruno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Martorana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"de Stefano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Otto P.","family":"van Diggelen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Federico","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,3,19]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880030602"},{"key":"e_1_2_6_3_2","first-page":"139","volume-title":"MR spectroscopy: clinical applications and techniques","author":"Arnold DL","year":"1996"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/mrm.1910380203"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/nbm.1940060114"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s002340000425"},{"key":"e_1_2_6_7_2","first-page":"227","article-title":"Familial dementia due to adult polyglucosan body disease","volume":"16","author":"Bigio EH","year":"1997","journal-title":"Clin Neuropathol"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10052"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-003-0995-2"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(99)00040-1"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410330114"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000138429.11433.0D"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880140203"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-0173(99)00003-X"},{"key":"e_1_2_6_15_2","doi-asserted-by":"crossref","DOI":"10.4324\/9780429177200","volume-title":"Magnetic resonance spectroscopy: diagnosis of neurological diseases","author":"Danielsen ER","year":"1999"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004150170182"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410380610"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.58.1.65"},{"issue":"2","key":"e_1_2_6_19_2","first-page":"S121","article-title":"Proton MR spectroscopy to assess axonal damage in multiple sclerosis and other white matter disorders","volume":"6","author":"De Stefano N","year":"2000","journal-title":"J Neurovirol"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200002)47:2<179::AID-ANA7>3.0.CO;2-Z"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1997.tb00070.x"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-198807000-00007"},{"key":"e_1_2_6_23_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.10520"},{"key":"e_1_2_6_24_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410300505"},{"key":"e_1_2_6_25_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410440604"},{"key":"e_1_2_6_26_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004010050432"},{"key":"e_1_2_6_27_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.4.785"},{"key":"e_1_2_6_28_2","doi-asserted-by":"publisher","DOI":"10.2174\/1566524024605815"},{"key":"e_1_2_6_29_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.12.1739"},{"key":"e_1_2_6_30_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.65.5.788"},{"key":"e_1_2_6_31_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/103.2.315"},{"key":"e_1_2_6_32_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00334454"},{"key":"e_1_2_6_33_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000073144.96680.CB"},{"key":"e_1_2_6_34_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20384"},{"key":"e_1_2_6_35_2","doi-asserted-by":"publisher","DOI":"10.1148\/radiol.2412051345"},{"key":"e_1_2_6_36_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200004)47:4<536::AID-ANA22>3.0.CO;2-K"}],"container-title":["Muscle &amp; 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