{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:20Z","timestamp":1772160080673,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,12,26]],"date-time":"2024-12-26T00:00:00Z","timestamp":1735171200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","award":["UIDB\/04293\/2020"],"award-info":[{"award-number":["UIDB\/04293\/2020"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","award":["PESSOA2023\u20102024"],"award-info":[{"award-number":["PESSOA2023\u20102024"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","award":["SFRH\/BD\/87189\/2012"],"award-info":[{"award-number":["SFRH\/BD\/87189\/2012"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","award":["DL57\/2016\u2010NormaTransit\u00f3ria"],"award-info":[{"award-number":["DL57\/2016\u2010NormaTransit\u00f3ria"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Hereditary spastic paraplegias (HSP) are a diverse group of neurodegenerative diseases characterized by lower limb spasticity and weakness. To date, over 80 genes have been associated with HSP, but many families remain without a molecular diagnosis.<\/jats:p>\n                  <jats:p>\n                    In this study, linkage analysis and whole\u2010exome sequencing (WES) were performed to identify the causal gene in a HSP family with autosomal recessive inheritance. Multipoint linkage analysis revealed a maximum significant multipoint LOD score of 4.6 on chromosome 4. WES analysis focused on this region led to the identification of a homozygous missense variant in\n                    <jats:italic>AIMP1<\/jats:italic>\n                    (c.223G&gt;A). Minigene assays showed that the presumed missense variant in\n                    <jats:italic>AIMP1<\/jats:italic>\n                    caused loss of the exon 3 donor splice site. Ultimately, this led to the use of an alternative splice site within the intron and the insertion of a premature stop codon.\n                  <\/jats:p>\n                  <jats:p>\n                    The identification of a novel\n                    <jats:italic>AIMP1<\/jats:italic>\n                    causal variant contributes to the growing list of HSP genes. Furthermore, it shows that, considering also previous reported cases, disruption of\n                    <jats:italic>AIMP1<\/jats:italic>\n                    causes a spectrum of disorders ranging from intellectual disability to more complex neurodegenerative diseases.\n                  <\/jats:p>","DOI":"10.1111\/cge.14690","type":"journal-article","created":{"date-parts":[[2024,12,27]],"date-time":"2024-12-27T01:18:26Z","timestamp":1735262306000},"page":"668-672","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Hereditary Spastic Paraplegia Linked to Abnormal Splicing From an\n                    <scp>\n                      <i>AIMP1<\/i>\n                    <\/scp>\n                    Missense Variant"],"prefix":"10.1111","volume":"107","author":[{"given":"Sara","family":"Morais","sequence":"first","affiliation":[{"name":"IBMC\u2010Institute for Molecular and Cell Biology, i3S\u2010Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade Universidade do Porto  Porto Portugal"},{"name":"ICBAS School of Medicine and Biomedical Sciences Universidade do Porto  Porto Portugal"},{"name":"CGPP\u2010Center for Predictive and Preventive Genetics, IBMC\u2010Institute for Molecular and Cell Biology Universidade do Porto  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9","family":"Leal Loureiro","sequence":"additional","affiliation":[{"name":"IBMC\u2010Institute for Molecular and Cell Biology, i3S\u2010Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade Universidade do Porto  Porto Portugal"},{"name":"Servi\u00e7o de Neurologia Centro Hospitalar de Entre o Douro e Vouga  Santa Maria da Feira Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Brand\u00e3o","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Neurologia Centro Hospitalar de Entre o Douro e Vouga  Santa Maria da Feira Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge","family":"Sequeiros","sequence":"additional","affiliation":[{"name":"IBMC\u2010Institute for Molecular and Cell Biology, i3S\u2010Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade Universidade do Porto  Porto Portugal"},{"name":"ICBAS School of Medicine and Biomedical Sciences Universidade do Porto  Porto Portugal"},{"name":"CGPP\u2010Center for Predictive and Preventive Genetics, IBMC\u2010Institute for Molecular and Cell Biology Universidade do Porto  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Stevanin","sequence":"additional","affiliation":[{"name":"CNRS\u2010Centre National de la Recherche Scientifique, EPHE\u2013Ecole Pratique des Hautes \u00c9tudes, INCIA\u2010Institut de Neurosciences Cognitives et Int\u00e9gratives d'Aquitaine Universit\u00e9 de Bordeaux  Bordeaux France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2343-2215","authenticated-orcid":false,"given":"Mariana","family":"Santos","sequence":"additional","affiliation":[{"name":"IBMC\u2010Institute for Molecular and Cell Biology, i3S\u2010Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade Universidade do Porto  Porto Portugal"},{"name":"ICBAS School of Medicine and Biomedical Sciences Universidade do Porto  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,12,26]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-013-1115-8"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-319-67144-4_25"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28982"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-015-1536-7"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.10.016"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-014-0411-3"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.148"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-019-00572-7"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073818811223"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2018.09.010"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2020.12.008"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0042-1760366"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/iub.324"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0901872106"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2013.1707"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000262043.53386.22"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.51.32573"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14690","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,4]],"date-time":"2025-05-04T22:56:50Z","timestamp":1746399410000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14690"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,26]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,6]]}},"alternative-id":["10.1111\/cge.14690"],"URL":"https:\/\/doi.org\/10.1111\/cge.14690","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14690\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14690\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14690\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14690\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14690\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14690\/v1\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,26]]},"assertion":[{"value":"2024-10-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-17","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-26","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}