{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T17:29:11Z","timestamp":1791912551370,"version":"4.3.4"},"reference-count":27,"publisher":"Oxford University Press (OUP)","issue":"5","funder":[{"DOI":"10.13039\/100000002","name":"National Institute of Health (NIH)","doi-asserted-by":"publisher","award":["R01NS072248"],"award-info":[{"award-number":["R01NS072248"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institute of Health (NIH)","doi-asserted-by":"publisher","award":["1R01NS075764"],"award-info":[{"award-number":["1R01NS075764"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institute of Health (NIH)","doi-asserted-by":"publisher","award":["5R01NS054132"],"award-info":[{"award-number":["5R01NS054132"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institute of Health (NIH)","doi-asserted-by":"publisher","award":["2U54NS065712"],"award-info":[{"award-number":["2U54NS065712"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Interdisciplinary Center for Clinical Research IZKF T\u00fcbingen","award":["2191-0-0 to M.S."],"award-info":[{"award-number":["2191-0-0 to M.S."]}]},{"name":"Interdisciplinary Center for Clinical Research IZKF T\u00fcbingen","award":["1970-0-0 to R.S."],"award-info":[{"award-number":["1970-0-0 to R.S."]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,5,1]]},"DOI":"10.1093\/brain\/aww079","type":"journal-article","created":{"date-parts":[[2016,4,17]],"date-time":"2016-04-17T20:10:10Z","timestamp":1460923810000},"page":"1378-1393","source":"Crossref","is-referenced-by-count":124,"title":["SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study"],"prefix":"10.1093","volume":"139","author":[{"given":"Matthis","family":"Synofzik","sequence":"first","affiliation":[{"name":"Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of T\u00fcbingen, Germany"},{"name":"German Research Center for Neurodegenerative Diseases (DZNE), University of T\u00fcbingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrien","family":"Smets","sequence":"additional","affiliation":[{"name":"Neurogenetics Group, Department of Molecular Genetics, University of Antwerp, VIB Belgium"},{"name":"Department of Neurology, Antwerp University Hospital, Belgium"},{"name":"Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martial","family":"Mallaret","sequence":"additional","affiliation":[{"name":"Department of Neurology, H\u00f4pital de Hautepierre, Strasbourg, France"},{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), INSERM-U964\/CNRS-UMR7104\/Universit\u00e9 de Strasbourg, Coll\u00e8ge de France, 67404 Illkirch, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Di Bella","sequence":"additional","affiliation":[{"name":"Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constanze","family":"Gallenm\u00fcller","sequence":"additional","affiliation":[{"name":"Department of Neurology with Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany"},{"name":"German Research Center for Neurodegenerative Diseases (DZNE), Munich, Germany"},{"name":"Munich Cluster for Systems Neurology (SyNergy), Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Baets","sequence":"additional","affiliation":[{"name":"Neurogenetics Group, Department of Molecular Genetics, University of Antwerp, VIB Belgium"},{"name":"Department of Neurology, Antwerp University Hospital, Belgium"},{"name":"Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Schulze","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, University of T\u00fcbingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Magri","sequence":"additional","affiliation":[{"name":"Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Sarto","sequence":"additional","affiliation":[{"name":"Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mona","family":"Mustafa","sequence":"additional","affiliation":[{"name":"Department of Nuclear Medicine, Ludwig-Maximilians-University, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tine","family":"Deconinck","sequence":"additional","affiliation":[{"name":"Neurogenetics Group, Department of Molecular Genetics, University of Antwerp, VIB Belgium"},{"name":"Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias","family":"Haack","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Technische Universit\u00e4t M\u00fcnchen, 81675 Munich, Germany"},{"name":"Institute of Human Genetics, Helmholtz Zentrum M\u00fcnchen, German Research Center for Environmental Health, 85764 Neuherberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Z\u00fcchner","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Gonzalez","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dagmar","family":"Timmann","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Duisburg-Essen, Essen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Stendel","sequence":"additional","affiliation":[{"name":"Department of Neurology with Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany"},{"name":"German Research Center for Neurodegenerative Diseases (DZNE), Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Klopstock","sequence":"additional","affiliation":[{"name":"Department of Neurology with Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany"},{"name":"German Research Center for Neurodegenerative Diseases (DZNE), Munich, Germany"},{"name":"Munich Cluster for Systems Neurology (SyNergy), Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Durr","sequence":"additional","affiliation":[{"name":"APHP Genetic department and Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM), UPMC University Paris VI, UMR975; CNRS UMR 7225; INSERM U975; University Hospital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Tranchant","sequence":"additional","affiliation":[{"name":"Department of Neurology, H\u00f4pital de Hautepierre, Strasbourg, France"},{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), INSERM-U964\/CNRS-UMR7104\/Universit\u00e9 de Strasbourg, Coll\u00e8ge de France, 67404 Illkirch, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Sturm","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, University of T\u00fcbingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wahiba","family":"Hamza","sequence":"additional","affiliation":[{"name":"Laboratoire de Biologie Cellulaire et Mol\u00e9culaire, Facult\u00e9 des Sciences Biologiques, USTHB, Algiers, Algeria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Nanetti","sequence":"additional","affiliation":[{"name":"Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Mariotti","sequence":"additional","affiliation":[{"name":"Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Koenig","sequence":"additional","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), INSERM-U964\/CNRS-UMR7104\/Universit\u00e9 de Strasbourg, Coll\u00e8ge de France, 67404 Illkirch, France"},{"name":"Laboratoire de Genetique de Maladies Rares, EA 7402, Institut Universitaire de Recherche Clinique, Universit\u00e9 et CHU de Montpellier, 34093 Montpellier cedex 5, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludger","family":"Sch\u00f6ls","sequence":"additional","affiliation":[{"name":"Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of T\u00fcbingen, Germany"},{"name":"German Research Center for Neurodegenerative Diseases (DZNE), University of T\u00fcbingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Sch\u00fcle","sequence":"additional","affiliation":[{"name":"Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of T\u00fcbingen, Germany"},{"name":"German Research Center for Neurodegenerative Diseases (DZNE), University of T\u00fcbingen, Germany"},{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"de Jonghe","sequence":"additional","affiliation":[{"name":"Neurogenetics Group, Department of Molecular Genetics, University of Antwerp, VIB Belgium"},{"name":"Department of Neurology, Antwerp University Hospital, Belgium"},{"name":"Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathieu","family":"Anheim","sequence":"additional","affiliation":[{"name":"Department of Neurology, H\u00f4pital de Hautepierre, Strasbourg, France"},{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), INSERM-U964\/CNRS-UMR7104\/Universit\u00e9 de Strasbourg, Coll\u00e8ge de France, 67404 Illkirch, France"},{"name":"F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Universit\u00e9 de Strasbourg, Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franco","family":"Taroni","sequence":"additional","affiliation":[{"name":"Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Bauer","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, University of T\u00fcbingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2016,4,17]]},"reference":[{"key":"key\n\t\t\t\t2018102610103831600_aww079-B1","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"key\n\t\t\t\t2018102610103831600_aww079-B2","doi-asserted-by":"crossref","first-page":"31986","DOI":"10.1074\/jbc.M004775200","article-title":"Syne-1, a dystrophin- and Klarsicht-related protein associated with synaptic nuclei at the neuromuscular junction","volume":"275","author":"Apel","year":"2000","journal-title":"J Biol Chem"},{"key":"key\n\t\t\t\t2018102610103831600_aww079-B3","doi-asserted-by":"crossref","first-page":"3462","DOI":"10.1093\/hmg\/ddp290","article-title":"Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis","volume":"18","author":"Attali","year":"2009","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t2018102610103831600_aww079-B4","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1086\/344206","article-title":"Is the transportation highway the right road for hereditary spastic paraplegia?","volume":"71","author":"Crosby","year":"2002","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t2018102610103831600_aww079-B5","volume-title":"GeneReviews","author":"Dupre","year":"1993"},{"key":"key\n\t\t\t\t2018102610103831600_aww079-B6","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1002\/ana.21143","article-title":"Clinical and genetic study of autosomal recessive cerebellar ataxia type 1","volume":"62","author":"Dupre","year":"2007","journal-title":"Ann Neurol"},{"key":"key\n\t\t\t\t2018102610103831600_aww079-B7","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.1001\/jamaneurol.2014.1944","article-title":"Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia","volume":"71","author":"Fogel","year":"2014","journal-title":"JAMA Neurol"},{"key":"key\n\t\t\t\t2018102610103831600_aww079-B8","doi-asserted-by":"crossref","first-page":"581","DOI":"10.3233\/JAD-2010-091549","article-title":"Functional representation of olfactory impairment in early Alzheimer's disease","volume":"22","author":"Forster","year":"2010","journal-title":"J Alzheimers Dis"},{"key":"key\n\t\t\t\t2018102610103831600_aww079-B26","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1002\/humu.22305","article-title":"GEnomes Management Application (GEM.app): A New Software Tool for Large-Scale Collaborative Genome Analysis","volume":"34","author":"Gonzalez","year":"2013","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t2018102610103831600_aww079-B27","doi-asserted-by":"crossref","first-page":"950","DOI":"10.1002\/humu.22836","article-title":"Innovative genomic collaboration using the GENESIS (GEM.app) platform","volume":"36","author":"Gonzalez","year":"2015","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t2018102610103831600_aww079-B9","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1038\/ng1927","article-title":"Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia","volume":"39","author":"Gros-Louis","year":"2007","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t2018102610103831600_aww079-B10","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1186\/s12881-015-0180-3","article-title":"Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia","volume":"16","author":"Hamza","year":"2015","journal-title":"BMC Med Genet"},{"key":"key\n\t\t\t\t2018102610103831600_aww079-B11","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1212\/WNL.0b013e3182815529","article-title":"Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease","volume":"80","author":"Izumi","year":"2013","journal-title":"Neurology"},{"key":"key\n\t\t\t\t2018102610103831600_aww079-B12","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t2018102610103831600_aww079-B13","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1016\/S0960-8966(97)00119-3","article-title":"On a dominantly inherited myopathy with tubular aggregates","volume":"7","author":"Martin","year":"1997","journal-title":"Neuromuscul Disord"},{"key":"key\n\t\t\t\t2018102610103831600_aww079-B14","first-page":"1296","article-title":"SYNE1 mutations in autosomal recessive cerebellar ataxia","volume":"70","author":"Noreau","year":"2013","journal-title":"JAMA Neurol"},{"key":"key\n\t\t\t\t2018102610103831600_aww079-B15","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1038\/ng.2613","article-title":"Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly","volume":"45","author":"Poirier","year":"2013","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t2018102610103831600_aww079-B16","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1093\/hmg\/ddn386","article-title":"Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice","volume":"18","author":"Puckelwartz","year":"2009","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t2018102610103831600_aww079-B17","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.nbd.2015.03.027","article-title":"A variant of Nesprin1 giant devoid of KASH domain underlies the molecular etiology of autosomal recessive cerebellar ataxia type I","volume":"78","author":"Razafsky","year":"2015","journal-title":"Neurobiol Dis"},{"key":"key\n\t\t\t\t2018102610103831600_aww079-B18","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1089\/cmb.1997.4.311","article-title":"Improved splice site detection in Genie","volume":"4","author":"Reese","year":"1997","journal-title":"J Comput Biol"},{"key":"key\n\t\t\t\t2018102610103831600_aww079-B19","doi-asserted-by":"crossref","first-page":"1717","DOI":"10.1212\/01.wnl.0000219042.60538.92","article-title":"Scale for the assessment and rating of ataxia: development of a new clinical scale","volume":"66","author":"Schmitz-Hubsch","year":"2006","journal-title":"Neurology"},{"key":"key\n\t\t\t\t2018102610103831600_aww079-B20","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/nmeth0810-575","article-title":"MutationTaster evaluates disease-causing potential of sequence alterations","volume":"7","author":"Schwarz","year":"2010","journal-title":"Nat Methods"},{"key":"key\n\t\t\t\t2018102610103831600_aww079-B21","doi-asserted-by":"crossref","first-page":"W452","DOI":"10.1093\/nar\/gks539","article-title":"SIFT web server: predicting effects of amino acid substitutions on proteins","volume":"40","author":"Sim","year":"2012","journal-title":"Nucleic Acids Res"},{"key":"key\n\t\t\t\t2018102610103831600_aww079-B22","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"key\n\t\t\t\t2018102610103831600_aww079-B23","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1093\/hmg\/ddp499","article-title":"Nesprin 1 is critical for nuclear positioning and anchorage","volume":"19","author":"Zhang","year":"2010","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t2018102610103831600_aww079-B24","doi-asserted-by":"crossref","first-page":"2816","DOI":"10.1093\/hmg\/ddm238","article-title":"Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity","volume":"16","author":"Zhang","year":"2007","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t2018102610103831600_aww079-B25","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1242\/dev.02783","article-title":"Syne-1 and Syne-2 play crucial roles in myonuclear anchorage and motor neuron innervation","volume":"134","author":"Zhang","year":"2007","journal-title":"Development"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/139\/5\/1378\/26178885\/aww079.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,9,6]],"date-time":"2019-09-06T15:53:11Z","timestamp":1567785191000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/139\/5\/1378\/2468772"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,4,17]]},"references-count":27,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2016,4,17]]},"published-print":{"date-parts":[[2016,5,1]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/aww079","relation":{},"ISSN":["1460-2156","0006-8950"],"issn-type":[{"value":"1460-2156","type":"electronic"},{"value":"0006-8950","type":"print"}],"subject":[],"published-other":{"date-parts":[[2016,5]]},"published":{"date-parts":[[2016,4,17]]}}}