{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T18:56:43Z","timestamp":1789757803466,"version":"4.0.1"},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2009,3,1]],"date-time":"2009-03-01T00:00:00Z","timestamp":1235865600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2009,3]]},"DOI":"10.1007\/s00415-009-0094-0","type":"journal-article","created":{"date-parts":[[2009,3,10]],"date-time":"2009-03-10T05:08:37Z","timestamp":1236661717000},"page":"416-419","source":"Crossref","is-referenced-by-count":28,"title":["Pontocerebellar hypoplasia type III (CLAM): Extended phenotype and novel molecular findings"],"prefix":"10.1007","volume":"256","author":[{"given":"B.","family":"Durmaz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Wollnik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.","family":"Cogulu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Tekgul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Hazan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Ozkinay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2009,3,14]]},"reference":[{"key":"94_CR1","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1016\/0387-7604(93)90080-R","volume":"15","author":"Barth","year":"1993","unstructured":"Barth PG (1993) Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev 15:411\u2013422","journal-title":"Brain Dev"},{"key":"94_CR2","first-page":"21","volume":"9","author":"Chou","year":"1990","unstructured":"Chou SM, Gilbert EF, Chun RW, Laxova R, Tuffli GA, Sufit RL, Krassikot N (1990) Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA). Clin Neuropathol 9:21\u201332","journal-title":"Clin Neuropathol"},{"key":"94_CR3","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1016\/S0387-7604(00)00093-0","volume":"22","author":"Coppola","year":"2000","unstructured":"Coppola G, Muras I, Pascotto A (2000) Pontocerebellar hypoplasia type 2 (PCH2): report of two siblings. Brain Dev 22:188\u2013192","journal-title":"Brain Dev"},{"key":"94_CR4","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1177\/088307380201700119","volume":"17","author":"Dilber","year":"2002","unstructured":"Dilber E, Aynaci FM, Ahmetoglu A (2002) Pontocerebellar hypoplasia in two siblings with dysmorphic features. J Child Neurol 17:64\u201366","journal-title":"J Child Neurol"},{"key":"94_CR5","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1016\/j.ygeno.2006.06.016","volume":"88","author":"Haitina","year":"2006","unstructured":"Haitina T, Lindblom J, Renstr\u00f6m T, Fredriksson R (2006) Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system. Genomics 88:779\u2013790","journal-title":"Genomics"},{"key":"94_CR6","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/S0387-7604(96)00563-3","volume":"19","author":"Malandrini","year":"1997","unstructured":"Malandrini A, Palmeri S, Villanova M, Parrotta E, Sicurelli F, Amato D, DeFalco D, Guazzi GC (1997) A syndrome of autosomal recessive pontocerebellar hypoplasia with white matter abnormalities and protracted course in two brothers. Brain Dev 19:209\u2013211","journal-title":"Brain Dev"},{"key":"94_CR7","doi-asserted-by":"crossref","first-page":"1664","DOI":"10.1212\/01.WNL.0000068548.58498.41","volume":"60","author":"Rajab","year":"2003","unstructured":"Rajab A, Mochida GH, Hill A, Ganesh V, Bodell A, Riaz A, Grant PE, Shugart YY, Walsh CA (2003) A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. Neurology 60:1664\u20131667","journal-title":"Neurology"},{"key":"94_CR8","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1002\/ajmg.a.10863","volume":"117","author":"Rudnik-Sch\u00f6neborn","year":"2003","unstructured":"Rudnik-Sch\u00f6neborn S, Sztriha L, Aithala GR, Houge G, Laegreid LM, Seeger J, Huppke M, Wirth B, Zerres K (2003) Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy. Am J Med Genet A 117:10\u201317","journal-title":"Am J Med Genet A"},{"key":"94_CR9","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1007\/s002470050410","volume":"28","author":"Uhl","year":"1998","unstructured":"Uhl M, Pawlik H, Laubenberger J, Darge K, Baborie A, Korinthenberg R, Langer M (1998) MR findings in pontocerebellar hypoplasia. Pediatr Radiol 28:547\u2013551","journal-title":"Pediatr Radiol"},{"key":"94_CR10","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1006\/mgme.2000.3055","volume":"71","author":"van der Leij","year":"2000","unstructured":"van der Leij FR, Huijkman NC, Boomsma C, Kuipers JR, Bartelds B (2000) Genomics of the human carnitine acyltransferase genes. Mol Genet Metab 71:139\u2013153","journal-title":"Mol Genet Metab"},{"key":"94_CR11","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1007\/s002340050334","volume":"38","author":"Zelnik","year":"1996","unstructured":"Zelnik N, Dobyns WB, Forem SL, Kolodny EH (1996) Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations. Neuroradiology 38:684\u2013687","journal-title":"Neuroradiology"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-009-0094-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00415-009-0094-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-009-0094-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T19:08:20Z","timestamp":1559070500000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00415-009-0094-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,3]]},"references-count":11,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2009,3]]}},"alternative-id":["94"],"URL":"https:\/\/doi.org\/10.1007\/s00415-009-0094-0","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,3]]}}}