{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T19:45:30Z","timestamp":1787168730060,"version":"build-2736575974"},"reference-count":82,"publisher":"Oxford University Press (OUP)","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Neuropathol Exp Neurol"],"published-print":{"date-parts":[[2002,9]]},"DOI":"10.1093\/jnen\/61.9.747","type":"journal-article","created":{"date-parts":[[2016,1,11]],"date-time":"2016-01-11T19:28:46Z","timestamp":1452540526000},"page":"747-759","source":"Crossref","is-referenced-by-count":87,"title":["Pelizaeus-Merzbacher Disease"],"prefix":"10.1093","volume":"61","author":[{"given":"Arnulf H.","family":"Koeppen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves","family":"Robitaille","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2002,9,1]]},"reference":[{"key":"2016011116283929000_61.9.747.1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02057569"},{"key":"2016011116283929000_61.9.747.2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02893591"},{"key":"2016011116283929000_61.9.747.3","doi-asserted-by":"publisher","DOI":"10.1007\/BF02863784"},{"key":"2016011116283929000_61.9.747.4","unstructured":"Seitelberger F . Pelizaeus-Merzbacher disease. In: Vinken PJ Bruyn GW , eds. Handbook of clinical neurology, vol 10 (Leucodystrophies and poliodystrophies). Amsterdam: North-Holland, 1970:150\u2013202"},{"key":"2016011116283929000_61.9.747.5","first-page":"807","article-title":"Proteolipids, a new type of tissue lipoproteins","volume":"191","author":"Folch","year":"1951","journal-title":"Their isolation from brain. J Biol Chem"},{"key":"2016011116283929000_61.9.747.6","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-196404000-00008"},{"key":"2016011116283929000_61.9.747.7","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410210208"},{"key":"2016011116283929000_61.9.747.8","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.20.8128"},{"key":"2016011116283929000_61.9.747.9","doi-asserted-by":"publisher","DOI":"10.1126\/science.3840606"},{"key":"2016011116283929000_61.9.747.10","unstructured":"Koeppen AH . Pelizaeus-Merzbacher disease: X-linked proteolipid protein deficiency in the human central nervous system. In: Martenson RE , ed. Myelin: Biology and chemistry. Boca Raton: CRC Press, 1992:703\u201321"},{"key":"2016011116283929000_61.9.747.11","doi-asserted-by":"publisher","DOI":"10.1159\/000111361"},{"key":"2016011116283929000_61.9.747.12","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.1995.tb00603.x"},{"key":"2016011116283929000_61.9.747.13","unstructured":"Seitelberger F Urbanitis S Nave K-A . Pelizaeus-Merzbacher disease. In: Moser HW , ed. Handbook of clinical neurology, chapt. 26. Amsterdam: Elsevier, 1996:559\u201379"},{"key":"2016011116283929000_61.9.747.14","unstructured":"Hudson LD . Pelizaeus-Merzbacher disease and the allelic disorder X-linked spastic paraplegia type 2. In: Scriver CR Beaudet AL Sly SW Valle D , eds. The metabolic & molecular basis of inherited disease, chapter 228. New York: McGraw-Hill, 2001:5789\u201398"},{"key":"2016011116283929000_61.9.747.15","unstructured":"GeneReviews at http:\/\/www.geneclinics.org"},{"key":"2016011116283929000_61.9.747.16","doi-asserted-by":"publisher","DOI":"10.1038\/ng0394-257"},{"key":"2016011116283929000_61.9.747.17","first-page":"83","article-title":"A sex-linked recessive form of spastic paraplegia","volume":"14","author":"Johnston","year":"1962","journal-title":"Am J Hum Genet"},{"key":"2016011116283929000_61.9.747.18","doi-asserted-by":"publisher","DOI":"10.1038\/ng0794-351"},{"key":"2016011116283929000_61.9.747.19","unstructured":"Online Mendelian Inheritance in Man; http:\/\/www.ncbi.nlm.nih.gov\/omim\/"},{"key":"2016011116283929000_61.9.747.20","doi-asserted-by":"publisher","DOI":"10.1023\/A:1022488912996"},{"key":"2016011116283929000_61.9.747.21","doi-asserted-by":"publisher","DOI":"10.1177\/088307388600100310"},{"key":"2016011116283929000_61.9.747.22","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.50.6.1749"},{"key":"2016011116283929000_61.9.747.23","doi-asserted-by":"publisher","DOI":"10.1086\/301933"},{"key":"2016011116283929000_61.9.747.24","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(97)00088-X"},{"key":"2016011116283929000_61.9.747.25","first-page":"1099","article-title":"Concepts of myelin and myelination in neuroradiology","volume":"21","author":"Barkovich","year":"2000","journal-title":"Am J Neuroradiol"},{"key":"2016011116283929000_61.9.747.26","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(97)00212-9"},{"key":"2016011116283929000_61.9.747.27","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.6.785"},{"key":"2016011116283929000_61.9.747.28","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1212\/WNL.58.2.237","article-title":"Brain N-acetylaspartate is elevated in Pelizaeus-Merzbacher disease with PLP duplication","volume":"58","author":"Takanashi","year":"2001","journal-title":"Neurology"},{"key":"2016011116283929000_61.9.747.29","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(94)00124-K"},{"key":"2016011116283929000_61.9.747.30","doi-asserted-by":"publisher","DOI":"10.1086\/302965"},{"key":"2016011116283929000_61.9.747.31","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284707"},{"key":"2016011116283929000_61.9.747.32","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971031)72:3<329::AID-AJMG15>3.0.CO;2-V"},{"key":"2016011116283929000_61.9.747.33","first-page":"A144","article-title":"Familial Pelizaeus-Merzbacher disease with a pericentric inversion of the X chromosome [inv(X)(p11.4q22.1)] resulting in PLP duplication","volume":"61","author":"Zackai","year":"1997","journal-title":"Am J Hum Genet"},{"key":"2016011116283929000_61.9.747.34","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005328019832"},{"key":"2016011116283929000_61.9.747.35","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980217)75:5<516::AID-AJMG11>3.0.CO;2-N"},{"key":"2016011116283929000_61.9.747.36","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-196904000-00004"},{"key":"2016011116283929000_61.9.747.37","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-197304000-00010"},{"key":"2016011116283929000_61.9.747.38","doi-asserted-by":"crossref","unstructured":"Kirschner DA Ganser AL Caspar DW . Diffraction studies of molecular organization and membrane interactions in myelin. In: Morrell P , ed. Myelin, 2nd edition. New York: Plenum, 1984:51\u201395","DOI":"10.1007\/978-1-4757-1830-0_2"},{"key":"2016011116283929000_61.9.747.39","unstructured":"Morrell P Quarles RH . Myelin formation, structure and biochemistry. In: Siegel GJ Agranoff BW Albers RW , eds. Basic neurochemistry, 6th edition. New York: Lippincott-Raven, 1999:69\u201393"},{"key":"2016011116283929000_61.9.747.40","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.490180402"},{"key":"2016011116283929000_61.9.747.41","doi-asserted-by":"publisher","DOI":"10.1007\/BF00965533"},{"key":"2016011116283929000_61.9.747.42","doi-asserted-by":"publisher","DOI":"10.1097\/00001756-199102000-00006"},{"key":"2016011116283929000_61.9.747.43","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80360-8"},{"key":"2016011116283929000_61.9.747.44","first-page":":1355","article-title":"Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease","volume":"49","author":"Raskind","year":"1991","journal-title":"Am J Hum Genet"},{"key":"2016011116283929000_61.9.747.45","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970822)71:3<357::AID-AJMG19>3.0.CO;2-J"},{"key":"2016011116283929000_61.9.747.46","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1978.tb10777.x"},{"key":"2016011116283929000_61.9.747.47","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1980.tb09671.x"},{"key":"2016011116283929000_61.9.747.48","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.28.6.540"},{"key":"2016011116283929000_61.9.747.49","first-page":"322","article-title":"Jimpy, a new totally sex-linked gene in the house mouse","volume":"86","author":"Phillips","year":"1954","journal-title":"Zeitschr Indukt Abstamm Vererb"},{"key":"2016011116283929000_61.9.747.50","first-page":"135","article-title":"Sex chromatin and gene action in the mammalian X-chromosome","volume":"14","author":"Lyon","year":"1962","journal-title":"Am J Med Genet"},{"key":"2016011116283929000_61.9.747.51","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10036"},{"key":"2016011116283929000_61.9.747.52","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.8.1089"},{"key":"2016011116283929000_61.9.747.53","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199905)45:5<624::AID-ANA11>3.0.CO;2-1"},{"key":"2016011116283929000_61.9.747.54","doi-asserted-by":"publisher","DOI":"10.1086\/302965"},{"key":"2016011116283929000_61.9.747.55","doi-asserted-by":"publisher","DOI":"10.1086\/302483"},{"key":"2016011116283929000_61.9.747.56","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200537"},{"key":"2016011116283929000_61.9.747.57","doi-asserted-by":"publisher","DOI":"10.1517\/14622416.2.3.263"},{"key":"2016011116283929000_61.9.747.58","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990115)82:2<132::AID-AJMG6>3.0.CO;2-4"},{"key":"2016011116283929000_61.9.747.59","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0029(19980601)41:5<344::AID-JEMT2>3.0.CO;2-Q"},{"key":"2016011116283929000_61.9.747.60","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1111\/j.1750-3639.2001.tb00383.x","article-title":"The pathobiology of myelin mutants reveal novel biological functions of the MBP and PLP genes","volume":"11","author":"Campagnoni","year":"2001","journal-title":"Brain Pathol"},{"key":"2016011116283929000_61.9.747.61","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(88)90135-9"},{"key":"2016011116283929000_61.9.747.62","doi-asserted-by":"publisher","DOI":"10.1007\/BF01217305"},{"key":"2016011116283929000_61.9.747.63","doi-asserted-by":"publisher","DOI":"10.1038\/358758a0"},{"key":"2016011116283929000_61.9.747.64","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.1995.tb00605.x"},{"key":"2016011116283929000_61.9.747.65","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4547(19980215)51:4<497::AID-JNR9>3.0.CO;2-7"},{"key":"2016011116283929000_61.9.747.66","doi-asserted-by":"publisher","DOI":"10.1016\/0006-8993(81)90047-0"},{"key":"2016011116283929000_61.9.747.67","doi-asserted-by":"publisher","DOI":"10.1016\/0006-8993(87)91062-6"},{"key":"2016011116283929000_61.9.747.68","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1993.1139"},{"key":"2016011116283929000_61.9.747.69","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(94)90147-3"},{"key":"2016011116283929000_61.9.747.70","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-9861(19980518)394:4<506::AID-CNE8>3.0.CO;2-5"},{"key":"2016011116283929000_61.9.747.71","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1046\/j.1471-4159.1995.64030967.x","article-title":"Over-expression of the DM-20 proteolipid causes central nervous system demyelination in transgenic mice","volume":"64","author":"Simons Johnson","year":"1995","journal-title":"J Neurochem"},{"key":"2016011116283929000_61.9.747.72","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(01)80046-5"},{"key":"2016011116283929000_61.9.747.73","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.102.2.384"},{"key":"2016011116283929000_61.9.747.74","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.95.2.598"},{"key":"2016011116283929000_61.9.747.75","doi-asserted-by":"publisher","DOI":"10.3109\/09687689409162223"},{"key":"2016011116283929000_61.9.747.76","doi-asserted-by":"publisher","DOI":"10.1023\/A:1007097226688"},{"key":"2016011116283929000_61.9.747.77","doi-asserted-by":"publisher","DOI":"10.1007\/BF01217922"},{"key":"2016011116283929000_61.9.747.78","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.79.13.4217"},{"key":"2016011116283929000_61.9.747.79","doi-asserted-by":"publisher","DOI":"10.1038\/ng0896-422"},{"key":"2016011116283929000_61.9.747.80","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.140.4.925"},{"key":"2016011116283929000_61.9.747.81","doi-asserted-by":"publisher","DOI":"10.1002\/jemt.1054"},{"key":"2016011116283929000_61.9.747.82","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970905)71:4<475::AID-AJMG20>3.0.CO;2-C"}],"container-title":["Journal of Neuropathology &amp; Experimental Neurology"],"original-title":[],"language":"en","deposited":{"date-parts":[[2017,6,23]],"date-time":"2017-06-23T23:31:08Z","timestamp":1498260668000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jnen\/article-lookup\/doi\/10.1093\/jnen\/61.9.747"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,9]]},"references-count":82,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2002,9,1]]},"published-print":{"date-parts":[[2002,9]]}},"alternative-id":["10.1093\/jnen\/61.9.747"],"URL":"https:\/\/doi.org\/10.1093\/jnen\/61.9.747","relation":{},"ISSN":["0022-3069","1554-6578"],"issn-type":[{"value":"0022-3069","type":"print"},{"value":"1554-6578","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,9]]}}}