{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T14:09:26Z","timestamp":1761919766481},"reference-count":43,"publisher":"Oxford University Press (OUP)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,2]]},"DOI":"10.1093\/neuonc\/not165","type":"journal-article","created":{"date-parts":[[2013,12,20]],"date-time":"2013-12-20T01:56:32Z","timestamp":1387504592000},"page":"250-255","source":"Crossref","is-referenced-by-count":11,"title":["A deletion causing NF2 exon 9 skipping is associated with familial autosomal dominant intramedullary ependymoma"],"prefix":"10.1093","volume":"16","author":[{"given":"Ilyess","family":"Zemmoura","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Vourc'h","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agathe","family":"Paubel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e9atrice","family":"Parfait","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jo\u00eblle","family":"Cohen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Bilan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alain","family":"Kitzis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9cilia","family":"Rousselot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabrice","family":"Parker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Fran\u00e7ois","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian R.","family":"Andres","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2013,12,18]]},"reference":[{"key":"key\n\t\t\t\t20170508172516_NOT165C1","volume-title":"Pathology and genetics of tumours of the nervous system","author":"Kleihues","year":"2000"},{"issue":"2","key":"key\n\t\t\t\t20170508172516_NOT165C2","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1111\/j.1750-3639.1997.tb01066.x","article-title":"The molecular biology of ependymomas","volume":"7","author":"Hamilton","year":"1997","journal-title":"Brain Pathol"},{"issue":"11","key":"key\n\t\t\t\t20170508172516_NOT165C3","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1056\/NEJM198803173181106","article-title":"Neurofibromatosis 2 (bilateral acoustic neurofibromatosis)","volume":"318","author":"Martuza","year":"1988","journal-title":"N Engl J Med"},{"issue":"2","key":"key\n\t\t\t\t20170508172516_NOT165C4","doi-asserted-by":"crossref","first-page":"109","DOI":"10.4103\/0256-4947.51737","article-title":"Outcome of surgery for intramedullary spinal ependymoma","volume":"28","author":"Alkhani","year":"2008","journal-title":"Ann Saudi Med"},{"issue":"2","key":"key\n\t\t\t\t20170508172516_NOT165C5","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1097\/00006123-199902000-00012","article-title":"Results of microsurgical treatment for intramedullary spinal cord ependymomas: analysis of 36 cases","volume":"44","author":"Hoshimaru","year":"1999","journal-title":"Neurosurgery"},{"issue":"4","key":"key\n\t\t\t\t20170508172516_NOT165C6","doi-asserted-by":"crossref","first-page":"951","DOI":"10.2214\/ajr.165.4.7676998","article-title":"Spinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety","volume":"165","author":"Mautner","year":"1995","journal-title":"AJR Am J Roentgenol"},{"issue":"2","key":"key\n\t\t\t\t20170508172516_NOT165C7","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1148\/radiology.218.2.r01fe40434","article-title":"Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype","volume":"218","author":"Patronas","year":"2001","journal-title":"Radiology"},{"issue":"6429","key":"key\n\t\t\t\t20170508172516_NOT165C8","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1038\/363515a0","article-title":"Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2","volume":"363","author":"Rouleau","year":"1993","journal-title":"Nature"},{"issue":"5","key":"key\n\t\t\t\t20170508172516_NOT165C9","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1016\/0092-8674(93)90406-G","article-title":"A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor","volume":"72","author":"Trofatter","year":"1993","journal-title":"Cell"},{"issue":"19","key":"key\n\t\t\t\t20170508172516_NOT165C10","doi-asserted-by":"crossref","first-page":"2265","DOI":"10.1101\/gad.1335605","article-title":"Membrane organization and tumorigenesis\u2013the NF2 tumor suppressor, Merlin","volume":"19","author":"McClatchey","year":"2005","journal-title":"Genes Dev"},{"issue":"188","key":"key\n\t\t\t\t20170508172516_NOT165C11","doi-asserted-by":"crossref","first-page":"pt6","DOI":"10.1126\/scisignal.2002314","article-title":"Merlin\/NF2 functions upstream of the nuclear E3 ubiquitin ligase CRL4DCAF1 to suppress oncogenic gene expression","volume":"4","author":"Cooper","year":"2011","journal-title":"Sci Signal"},{"issue":"10","key":"key\n\t\t\t\t20170508172516_NOT165C12","doi-asserted-by":"crossref","first-page":"1403","DOI":"10.1016\/j.febslet.2012.03.016","article-title":"Merlin, a multi-suppressor from cell membrane to the nucleus","volume":"586","author":"Zhou","year":"2012","journal-title":"FEBS Lett"},{"issue":"4","key":"key\n\t\t\t\t20170508172516_NOT165C13","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1073\/pnas.68.4.820","article-title":"Mutation and cancer: statistical study of retinoblastoma","volume":"68","author":"Knudson","year":"1971","journal-title":"Proc Natl Acad Sci USA"},{"issue":"2","key":"key\n\t\t\t\t20170508172516_NOT165C14","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1086\/422700","article-title":"Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study","volume":"75","author":"Baser","year":"2004","journal-title":"Am J Hum Genet"},{"issue":"2","key":"key\n\t\t\t\t20170508172516_NOT165C15","first-page":"331","article-title":"Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease","volume":"59","author":"Ruttledge","year":"1996","journal-title":"Am J Hum Genet"},{"issue":"5","key":"key\n\t\t\t\t20170508172516_NOT165C16","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1212\/WNL.54.5.1132","article-title":"Mild familial neurofibromatosis 2 associates with expression of merlin with altered COOH-terminus","volume":"54","author":"Sainio","year":"2000","journal-title":"Neurology"},{"issue":"4","key":"key\n\t\t\t\t20170508172516_NOT165C17","first-page":"155","article-title":"Molecular alterations in ependymomas","volume":"45","author":"Biernat","year":"2007","journal-title":"Folia Neuropathol"},{"issue":"1","key":"key\n\t\t\t\t20170508172516_NOT165C18","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0165-4608(99)00046-1","article-title":"Karyotype studies in 18 ependymomas with literature review of 107 cases","volume":"113","author":"Mazewski","year":"1999","journal-title":"Cancer Genet Cytogenet"},{"issue":"1","key":"key\n\t\t\t\t20170508172516_NOT165C19","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1097\/00006123-199607000-00026","article-title":"Frequent type 2 neurofibromatosis gene transcript mutations in sporadic intramedullary spinal cord ependymomas","volume":"39","author":"Birch","year":"1996","journal-title":"Neurosurgery"},{"issue":"2","key":"key\n\t\t\t\t20170508172516_NOT165C20","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1016\/S0002-9440(10)65158-9","article-title":"Molecular genetic analysis of ependymal tumors. NF2 mutations and chromosome 22q loss occur preferentially in intramedullary spinal ependymomas","volume":"155","author":"Ebert","year":"1999","journal-title":"Am J Pathol"},{"issue":"1","key":"key\n\t\t\t\t20170508172516_NOT165C21","first-page":"45","article-title":"Analysis of the neurofibromatosis 2 gene in human ependymomas and astrocytomas","volume":"54","author":"Rubio","year":"1994","journal-title":"Cancer Res"},{"issue":"1","key":"key\n\t\t\t\t20170508172516_NOT165C22","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1002\/(SICI)1098-2264(199609)17:1<37::AID-GCC6>3.0.CO;2-3","article-title":"Molecular genetic analysis of chromosome arm 17p and chromosome arm 22q DNA sequences in sporadic pediatric ependymomas","volume":"17","author":"von Haken","year":"1996","journal-title":"Genes Chromosomes Cancer"},{"issue":"1","key":"key\n\t\t\t\t20170508172516_NOT165C23","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0165-4608(01)00591-X","article-title":"Analysis of the NF2 gene in oligodendrogliomas and ependymomas","volume":"134","author":"Alonso","year":"2002","journal-title":"Cancer Genet Cytogenet"},{"issue":"Pt 3","key":"key\n\t\t\t\t20170508172516_NOT165C24","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1107\/S0907444901021175","article-title":"The structure of the FERM domain of merlin, the neurofibromatosis type 2 gene product","volume":"58","author":"Kang","year":"2002","journal-title":"Acta Crystallogr D Biol Crystallogr"},{"key":"key\n\t\t\t\t20170508172516_NOT165C25","author":"SWISS-MODEL"},{"issue":"2","key":"key\n\t\t\t\t20170508172516_NOT165C26","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1093\/bioinformatics\/bti770","article-title":"The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling","volume":"22","author":"Arnold","year":"2006","journal-title":"Bioinformatics"},{"key":"key\n\t\t\t\t20170508172516_NOT165C27","author":"PyMOL"},{"key":"key\n\t\t\t\t20170508172516_NOT165C28","author":"Database of Genomic Variants"},{"issue":"12","key":"key\n\t\t\t\t20170508172516_NOT165C29","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1136\/jmg.29.12.841","article-title":"A genetic study of type 2 neurofibromatosis in the United Kingdom. I.: Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity","volume":"29","author":"Evans","year":"1992","journal-title":". J Med Genet"},{"issue":"10","key":"key\n\t\t\t\t20170508172516_NOT165C30","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1136\/jnnp.57.10.1245","article-title":"Familial anaplastic ependymoma: evidence of loss of chromosome 22 in tumour cells","volume":"57","author":"Nijssen","year":"1994","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"7","key":"key\n\t\t\t\t20170508172516_NOT165C31","doi-asserted-by":"crossref","first-page":"1150","DOI":"10.1038\/sj.bjc.6690822","article-title":"Evidence for an ependymoma tumour suppressor gene in chromosome region 22pter-22q11.2","volume":"81","author":"Hulsebos","year":"1999","journal-title":"Br J Cancer"},{"issue":"11","key":"key\n\t\t\t\t20170508172516_NOT165C32","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1007\/s10038-003-0078-3","article-title":"A family with spinal anaplastic ependymoma: evidence of loss of chromosome 22q in tumor","volume":"48","author":"Yokota","year":"2003","journal-title":"J Hum Genet"},{"issue":"1","key":"key\n\t\t\t\t20170508172516_NOT165C33","doi-asserted-by":"crossref","first-page":"E8","DOI":"10.3171\/foc.2006.20.1.9","article-title":"Familial intracranial ependymomas. Report of three cases in a family and review of the literature","volume":"20","author":"Dimopoulos","year":"2006","journal-title":"Neurosurg Focus"},{"issue":"5","key":"key\n\t\t\t\t20170508172516_NOT165C34","doi-asserted-by":"crossref","first-page":"655","DOI":"10.3171\/jns.1979.50.5.0655","article-title":"Simultaneous clinical manifestation of subependymoma of the fourth ventricle in identical twins. Case report","volume":"50","author":"Clarenbach","year":"1979","journal-title":"J Neurosurg"},{"issue":"3","key":"key\n\t\t\t\t20170508172516_NOT165C35","doi-asserted-by":"crossref","first-page":"317","DOI":"10.3109\/02688698709023773","article-title":"Familial subependymomas","volume":"1","author":"Honan","year":"1987","journal-title":"Br J Neurosurg"},{"issue":"6","key":"key\n\t\t\t\t20170508172516_NOT165C36","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.3171\/jns.1994.80.6.1108","article-title":"Familial occurrence of subependymoma. Report of two cases","volume":"80","author":"Ryken","year":"1994","journal-title":"J Neurosurg"},{"key":"key\n\t\t\t\t20170508172516_NOT165C37","author":"1000 Genomes Project"},{"issue":"1","key":"key\n\t\t\t\t20170508172516_NOT165C38","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/humu.20393","article-title":"Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings","volume":"28","author":"Ahronowitz","year":"2007","journal-title":"Hum Mutat"},{"issue":"4","key":"key\n\t\t\t\t20170508172516_NOT165C39","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1002\/humu.20317","article-title":"The distribution of constitutional and somatic mutations in the neurofibromatosis 2 gene","volume":"27","author":"Baser","year":"2006","journal-title":"Hum Mutat"},{"issue":"12","key":"key\n\t\t\t\t20170508172516_NOT165C40","doi-asserted-by":"crossref","first-page":"2113","DOI":"10.1002\/pro.751","article-title":"Unfurling of the band 4.1, ezrin, radixin, moesin (FERM) domain of the merlin tumor suppressor","volume":"20","author":"Yogesha","year":"2011","journal-title":"Protein Sci"},{"issue":"Pt 22","key":"key\n\t\t\t\t20170508172516_NOT165C41","doi-asserted-by":"crossref","first-page":"4141","DOI":"10.1242\/jcs.045914","article-title":"Tumor-suppression functions of merlin are independent of its role as an organizer of the actin cytoskeleton in Schwann cells","volume":"122","author":"Lallemand","year":"2009","journal-title":"J Cell Sci"},{"issue":"4","key":"key\n\t\t\t\t20170508172516_NOT165C42","doi-asserted-by":"crossref","first-page":"543","DOI":"10.3171\/2010.11.SPINE10350","article-title":"Spinal ependymomas in neurofibromatosis Type 2: a retrospective analysis of 55 patients","volume":"14","author":"Plotkin","year":"2011","journal-title":"J Neurosurg Spine"},{"issue":"2","key":"key\n\t\t\t\t20170508172516_NOT165C43","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1111\/j.1399-0004.2009.01315.x","article-title":"Further genotype\u2013phenotype correlations in neurofibromatosis 2","volume":"77","author":"Selvanathan","year":"2010","journal-title":"Clin Genet"}],"container-title":["Neuro-Oncology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/neuro-oncology\/article-pdf\/16\/2\/250\/16664797\/not165.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,23]],"date-time":"2017-08-23T19:50:44Z","timestamp":1503517844000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/neuro-oncology\/article-lookup\/doi\/10.1093\/neuonc\/not165"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12,18]]},"references-count":43,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2013,12,18]]},"published-print":{"date-parts":[[2014,2]]}},"URL":"https:\/\/doi.org\/10.1093\/neuonc\/not165","relation":{},"ISSN":["1523-5866","1522-8517"],"issn-type":[{"value":"1523-5866","type":"electronic"},{"value":"1522-8517","type":"print"}],"subject":[],"published":{"date-parts":[[2013,12,18]]}}}