{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T11:10:32Z","timestamp":1790161832398,"version":"4.1.0"},"reference-count":21,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2013,1,9]],"date-time":"2013-01-09T00:00:00Z","timestamp":1357689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2014,4]]},"abstract":"<jats:p>Pontocerebellar hypoplasias represent a group of neurodegenerative autosomal recessive disorders characterized by hypoplasia\/atrophy of the cerebellum, hypoplastic ventral pons, and microcephaly and associated with various clinical features. Pontocerebellar hypolasia type 2 is the most common form, and different mutations in genes encoding subunits of the transfer ribonucleic acid (RNA)\u2013splicing endonuclease ( TSEN) complex were identified in patients. The authors report clinical, imaging, and molecular studies in 2 unrelated patients with different clinical pictures of the pontocerebellar hypoplasia type 2 spectrum and novel mutations in TSEN54, aiming to further define the clinical spectrum of the disease and possible indicators of more favorable progression. They identified a novel missense mutation c.355T&gt;G\/p.Y119D in compound heterozygosity with the \u201ccommon\u201d c.919G&gt;T\/p.A307S (patient 1) and a novel homozygous c.7ins6(CCGGAG)\/p.E2-P3insPE variant (patient 2). An expanded array of mutations might contribute in defining possible differences in severity and phenotype-genotype correlations.<\/jats:p>","DOI":"10.1177\/0883073812470002","type":"journal-article","created":{"date-parts":[[2013,1,10]],"date-time":"2013-01-10T21:39:47Z","timestamp":1357853987000},"page":"520-525","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":19,"title":["Novel Mutations in\n                    <i>TSEN54<\/i>\n                    in Pontocerebellar Hypoplasia Type 2"],"prefix":"10.1177","volume":"29","author":[{"given":"Roberta","family":"Battini","sequence":"first","affiliation":[{"name":"These authors equally contributed to the paper"},{"name":"Department of Developmental Neuroscience, Scientific Research Institute Stella Maris, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"D\u2019Arrigo","sequence":"additional","affiliation":[{"name":"These authors equally contributed to the paper"},{"name":"Division of Child Neurology and Psychiatry, Scientific Research Institute C. Besta, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise","family":"Cassandrini","sequence":"additional","affiliation":[{"name":"These authors equally contributed to the paper"},{"name":"Department of Developmental Neuroscience, Scientific Research Institute Stella Maris, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Guzzetta","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience, Scientific Research Institute Stella Maris, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Fiorillo","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience, Scientific Research Institute Stella Maris, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Pantaleoni","sequence":"additional","affiliation":[{"name":"Division of Child Neurology and Psychiatry, Scientific Research Institute C. Besta, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Romano","sequence":"additional","affiliation":[{"name":"Department of Biological and Environmental Sciences and Technologies, University of Salento, Lecce, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Alfei","sequence":"additional","affiliation":[{"name":"Division of Child Neurology and Psychiatry, Scientific Research Institute C. Besta, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Cioni","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience, Scientific Research Institute Stella Maris, Pisa, Italy"},{"name":"Division of Child Neurology and Psychiatry, University of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo M.","family":"Santorelli","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience, Scientific Research Institute Stella Maris, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2013,1,9]]},"reference":[{"key":"bibr1-0883073812470002","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-50"},{"key":"bibr2-0883073812470002","doi-asserted-by":"publisher","DOI":"10.1053\/ejpn.2000.0294"},{"key":"bibr3-0883073812470002","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.45.2.311"},{"key":"bibr4-0883073812470002","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181f88173"},{"key":"bibr5-0883073812470002","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq287"},{"key":"bibr6-0883073812470002","doi-asserted-by":"publisher","DOI":"10.1086\/521227"},{"key":"bibr7-0883073812470002","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.07.006"},{"key":"bibr8-0883073812470002","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2254"},{"key":"bibr9-0883073812470002","doi-asserted-by":"publisher","DOI":"10.1038\/ng.204"},{"key":"bibr10-0883073812470002","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.8"},{"key":"bibr11-0883073812470002","doi-asserted-by":"publisher","DOI":"10.1006\/jmbi.1993.1626"},{"key":"bibr12-0883073812470002","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq369"},{"key":"bibr13-0883073812470002","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbapap.2010.01.011"},{"key":"bibr14-0883073812470002","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-9-S1-S9"},{"key":"bibr15-0883073812470002","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bti541"},{"key":"bibr16-0883073812470002","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkm363"},{"key":"bibr17-0883073812470002","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80270-6"},{"key":"bibr18-0883073812470002","doi-asserted-by":"publisher","DOI":"10.1110\/ps.37101"},{"key":"bibr19-0883073812470002","doi-asserted-by":"publisher","DOI":"10.1126\/science.280.5361.279"},{"key":"bibr20-0883073812470002","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.22-03-00639.2002"},{"key":"bibr21-0883073812470002","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.21098"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073812470002","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073812470002","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073812470002","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:37:44Z","timestamp":1777495064000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073812470002"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1,9]]},"references-count":21,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2014,4]]}},"alternative-id":["10.1177\/0883073812470002"],"URL":"https:\/\/doi.org\/10.1177\/0883073812470002","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,1,9]]}}}