{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T12:04:05Z","timestamp":1790597045363,"version":"4.1.0"},"reference-count":31,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T00:00:00Z","timestamp":1773878400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004881","name":"Instituto Mexicano del Seguro Social","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004881","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005343","name":"IMSS AC Foundation","doi-asserted-by":"publisher","award":["R\\u22122021\\u2013785\\u2013068"],"award-info":[{"award-number":["R\\u22122021\\u2013785\\u2013068"]}],"id":[{"id":"10.13039\/501100005343","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Global Medical Genetics"],"published-print":{"date-parts":[[2026,9]]},"DOI":"10.1016\/j.gmg.2026.100098","type":"journal-article","created":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T17:23:32Z","timestamp":1774286612000},"page":"100098","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and molecular characterization of giant axonal neuropathy due to a homozygous c.851\u202f+\u202f1G&gt;A variant in GAN: A case report and literature review"],"prefix":"10.1016","volume":"13","author":[{"given":"Emmanuel","family":"Rojas-Morales","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"Esparza-Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Teresa","family":"Maga\u00f1a-Torres","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gmg.2026.100098_bib1","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1007\/s00439-016-1659-5","article-title":"A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer","volume":"135","author":"Kang","year":"2016","journal-title":"Hum. Genet"},{"key":"10.1016\/j.gmg.2026.100098_bib2","doi-asserted-by":"crossref","first-page":"304","DOI":"10.4103\/aian.AIAN_82_18","article-title":"Giant axonal neuropathy: Clinical, radiological, and genetic features","volume":"21","author":"Garg","year":"2018","journal-title":"Ann. Indian Acad. Neurol."},{"key":"10.1016\/j.gmg.2026.100098_bib3","doi-asserted-by":"crossref","first-page":"D1333","DOI":"10.1093\/nar\/gkad1005","article-title":"The Human Phenotype Ontology in 2024: Phenotypes around the world","volume":"52","author":"Gargano","year":"2024","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.gmg.2026.100098_bib4","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/s42466-020-00064-2","article-title":"Diagnosis of peripheral neuropathy","volume":"2","author":"Lehmann","year":"2020","journal-title":"Neurol. Res. Pr."},{"key":"10.1016\/j.gmg.2026.100098_bib5","doi-asserted-by":"crossref","first-page":"85","DOI":"10.3389\/fnins.2020.00085","article-title":"Identification of novel compound heterozygous mutations in the GAN gene of a Chinese patient diagnosed with giant axonal neuropathy","volume":"14","author":"Xu","year":"2020","journal-title":"Front. Neurosci."},{"key":"10.1016\/j.gmg.2026.100098_bib6","doi-asserted-by":"crossref","first-page":"3239","DOI":"10.1093\/brain\/awab179","article-title":"Giant axonal neuropathy: Cross-sectional analysis of a large natural history cohort","volume":"144","author":"Bharucha Goebel","year":"2021","journal-title":"Brain"},{"key":"10.1016\/j.gmg.2026.100098_bib7","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1038\/ejhg.2009.31","article-title":"Charcot-Marie-Tooth disease","volume":"17","author":"Szigeti","year":"2009","journal-title":"Eur. J. Hum. Genet"},{"key":"10.1016\/j.gmg.2026.100098_bib8","article-title":"Charcot-Marie-Tooth disease","author":"Nagappa","year":"2024","journal-title":"StatPearls"},{"key":"10.1016\/j.gmg.2026.100098_bib9","doi-asserted-by":"crossref","first-page":"152","DOI":"10.4103\/aian.aian_1001_23","article-title":"Revisiting Friedreich\u2019s ataxia: Phenotypic and imaging characteristics","volume":"27","author":"Mahale","year":"2024","journal-title":"Ann. Indian Acad. Neurol."},{"key":"10.1016\/j.gmg.2026.100098_bib10","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1097\/WCO.0000000000001307","article-title":"The evolving spectrum of complex inherited neuropathies","volume":"37","author":"Rossor","year":"2024","journal-title":"Curr. Opin. Neurol."},{"key":"10.1016\/j.gmg.2026.100098_bib11","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.3389\/fphys.2020.01022","article-title":"E3 ubiquitin ligases in neurological diseases: Focus on gigaxonin and autophagy","volume":"11","author":"Lescouz\u00e8res","year":"2020","journal-title":"Front. Physiol."},{"key":"10.1016\/j.gmg.2026.100098_bib12","doi-asserted-by":"crossref","first-page":"2050","DOI":"10.1016\/j.cub.2005.10.052","article-title":"Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway","volume":"15","author":"Wang","year":"2005","journal-title":"Curr. Biol."},{"key":"10.1016\/j.gmg.2026.100098_bib13","doi-asserted-by":"crossref","first-page":"91","DOI":"10.3390\/jpm13010091","article-title":"Genetic approaches for the treatment of giant axonal neuropathy","volume":"13","author":"Shirakaki","year":"2023","journal-title":"J. Pers. Med."},{"key":"10.1016\/j.gmg.2026.100098_bib14","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.omtm.2018.02.005","article-title":"Development of intrathecal AAV9 gene therapy for giant axonal neuropathy","volume":"9","author":"Bailey","year":"2018","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"10.1016\/j.gmg.2026.100098_bib15","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1080\/13816810.2021.1923036","article-title":"Extensive rod and cone photoreceptor-cell degeneration in rat models of giant axonal neuropathy: Implications for gene therapy of human disease","volume":"42","author":"Armao","year":"2021","journal-title":"Ophthalmic Genet"},{"key":"10.1016\/j.gmg.2026.100098_bib16","doi-asserted-by":"crossref","first-page":"1092","DOI":"10.1056\/NEJMoa2307952","article-title":"Intrathecal gene therapy for giant axonal neuropathy","volume":"390","author":"Bharucha Goebel","year":"2024","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.gmg.2026.100098_bib17","doi-asserted-by":"crossref","first-page":"2319","DOI":"10.1093\/hmg\/10.21.2319","article-title":"Understanding human disease mutations through the use of interspecific genetic variation","volume":"10","author":"Miller","year":"2001","journal-title":"Hum. Mol. Genet"},{"key":"10.1016\/j.gmg.2026.100098_bib18","doi-asserted-by":"crossref","first-page":"2886","DOI":"10.1016\/j.jmb.2015.07.004","article-title":"The contribution of missense mutations in core and rim residues of protein-protein interfaces to human disease","volume":"427","author":"David","year":"2015","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.gmg.2026.100098_bib19","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1016\/j.tig.2020.10.003","article-title":"Hotspots of human mutation","volume":"37","author":"Nesta","year":"2021","journal-title":"Trends Genet"},{"key":"10.1016\/j.gmg.2026.100098_bib20","first-page":"298","article-title":"A fast method for high-quality genomic DNA extraction from whole human blood","volume":"11","author":"Gustincich","year":"1991","journal-title":"BioTechniques"},{"key":"10.1016\/j.gmg.2026.100098_bib21","doi-asserted-by":"crossref","first-page":"2235","DOI":"10.1056\/NEJMsr1406261","article-title":"ClinGen\u2014the Clinical Genome Resource","volume":"372","author":"Rehm","year":"2015","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.gmg.2026.100098_bib22","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.gmg.2026.100098_bib23","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1007\/s00415-024-12744-z","article-title":"Giant axonal neuropathy (GAN): Cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohort","volume":"272","author":"Gangfu\u00df","year":"2025","journal-title":"J. Neurol."},{"key":"10.1016\/j.gmg.2026.100098_bib24","doi-asserted-by":"crossref","first-page":"D1313","DOI":"10.1093\/nar\/gkae1090","article-title":"ClinVar: Updates to support classifications of both germline and somatic variants","volume":"53","author":"Landrum","year":"2025","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.gmg.2026.100098_bib25","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1007\/s12519-018-0140-z","article-title":"Two novel mutations in the GAN gene causing giant axonal neuropathy","volume":"14","author":"Normendez Mart\u00ednez","year":"2018","journal-title":"World J. Pedia"},{"key":"10.1016\/j.gmg.2026.100098_bib26","doi-asserted-by":"crossref","first-page":"W451","DOI":"10.1093\/nar\/gkad455","article-title":"PhD\u2011SNPg: updating a webserver and lightweight tool for scoring nucleotide variants","volume":"51","author":"Capriotti","year":"2023","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.gmg.2026.100098_bib27","doi-asserted-by":"crossref","DOI":"10.1096\/fj.202202119R","article-title":"Gigaxonin is required for intermediate filament transport","volume":"37","author":"Renganathan","year":"2023","journal-title":"FASEB J."},{"key":"10.1016\/j.gmg.2026.100098_bib28","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-020-73219-5","article-title":"Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin","volume":"10","author":"Chakravorty","year":"2020","journal-title":"Sci. Rep."},{"key":"10.1016\/j.gmg.2026.100098_bib29","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1002\/ajmg.a.62592","article-title":"Giant axonal neuropathy (GAN) in an 8-year-old girl caused by a homozygous pathogenic splicing variant in GAN gene","volume":"188","author":"Guo","year":"2022","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gmg.2026.100098_bib30","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1016\/j.braindev.2014.12.002","article-title":"Giant axonal disease: Report of eight cases","volume":"37","author":"Incecik","year":"2015","journal-title":"Brain Dev."},{"key":"10.1016\/j.gmg.2026.100098_bib31","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1136\/jnnp.2003.035162","article-title":"Giant axonal neuropathy: Clinical and genetic study in six cases","volume":"76","author":"Demir","year":"2005","journal-title":"J. Neurol. Neurosurg. Psychiatry"}],"container-title":["Global Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2699940426000068?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2699940426000068?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T11:44:00Z","timestamp":1790595840000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2699940426000068"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9]]},"references-count":31,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["S2699940426000068"],"URL":"https:\/\/doi.org\/10.1016\/j.gmg.2026.100098","relation":{},"ISSN":["2699-9404"],"issn-type":[{"value":"2699-9404","type":"print"}],"subject":[],"published":{"date-parts":[[2026,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical and molecular characterization of giant axonal neuropathy due to a homozygous c.851\u202f+\u202f1G>A variant in GAN: A case report and literature review","name":"articletitle","label":"Article Title"},{"value":"Global Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gmg.2026.100098","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Authors. Publishing services by Elsevier B.V. on behalf of KeAi Communications Co. Ltd.","name":"copyright","label":"Copyright"}],"article-number":"100098"}}