{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T14:08:40Z","timestamp":1769436520572,"version":"3.49.0"},"reference-count":35,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,11,27]],"date-time":"2024-11-27T00:00:00Z","timestamp":1732665600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,11,27]],"date-time":"2024-11-27T00:00:00Z","timestamp":1732665600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"DOI":"10.1007\/s10048-024-00790-8","type":"journal-article","created":{"date-parts":[[2024,11,27]],"date-time":"2024-11-27T06:11:18Z","timestamp":1732687878000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Giant axonal neuropathy: a rare inherited neuropathy with a novel mutation"],"prefix":"10.1007","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2164-4000","authenticated-orcid":false,"given":"Bita","family":"Poorshiri","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-6632-6284","authenticated-orcid":false,"given":"Neda","family":"Jabbarpour","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5503-9039","authenticated-orcid":false,"given":"Mohammad","family":"Barzegar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3216-2947","authenticated-orcid":false,"given":"Mortaza","family":"Bonyadi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6168-4256","authenticated-orcid":false,"given":"Zakiyeh","family":"Ebadi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,11,27]]},"reference":[{"issue":"6","key":"790_CR1","doi-asserted-by":"publisher","first-page":"825","DOI":"10.1136\/jnnp.2003.035162","volume":"76","author":"E Demir","year":"2005","unstructured":"Demir E, Bomont P, Erdem S, Cavalier L, Demirci M, Kose G et al (2005) Giant axonal neuropathy: clinical and genetic study in six cases. J Neurol Neurosurg Psychiatry 76(6):825\u2013832","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"3","key":"790_CR2","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1007\/s12519-018-0140-z","volume":"14","author":"MI Normendez-Mart\u00ednez","year":"2018","unstructured":"Normendez-Mart\u00ednez MI, Monterde-Cruz L, Mart\u00ednez R, Marquez-Harper M, Esquitin-Gardu\u00f1o N, Valdes-Flores M et al (2018) Two novel mutations in the GAN gene causing giant axonal neuropathy. World J Pediatr 14(3):298\u2013304","journal-title":"World J Pediatr"},{"key":"790_CR3","doi-asserted-by":"crossref","unstructured":"Chen P-H, Hu J, Wu J, Huynh DT, Smith TJ, Pan S et al (2020) Gigaxonin glycosylation regulates intermediate filament turnover and may impact giant axonal neuropathy etiology or treatment. JCI Insight.;5(1)","DOI":"10.1172\/jci.insight.127751"},{"issue":"4","key":"790_CR4","first-page":"200","volume":"19","author":"M Vafaee-Shahi","year":"2020","unstructured":"Vafaee-Shahi M, Ghasemi S, Ghahvechi-Akbar M, Tahernia L, Davarzani A, Hajati R et al (2020) Giant axonal neuropathy: the first Iranian case with a variation in the gigaxonin gene and a glance to the other cases. Curr J Neurol 19(4):200","journal-title":"Curr J Neurol"},{"issue":"4","key":"790_CR5","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1016\/j.nmd.2009.01.011","volume":"19","author":"M Tazir","year":"2009","unstructured":"Tazir M, Nouioua S, Magy L, Huehne K, Assami S, Urtizberea A et al (2009) Phenotypic variability in giant axonal neuropathy. Neuromuscul Disord 19(4):270\u2013274","journal-title":"Neuromuscul Disord"},{"issue":"7","key":"790_CR6","doi-asserted-by":"publisher","first-page":"912","DOI":"10.1177\/0883073814547721","volume":"30","author":"K Vijaykumar","year":"2015","unstructured":"Vijaykumar K, Bindu PS, Taly AB, Mahadevan A, Bharath RD, Gayathri N et al (2015) Giant axonal neuropathy. J Child Neurol 30(7):912\u2013915","journal-title":"J Child Neurol"},{"issue":"4","key":"790_CR7","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1016\/j.braindev.2015.10.003","volume":"38","author":"A Iemura","year":"2016","unstructured":"Iemura A, Iwasaki M, Yamakawa N, Tomiwa K, Anji Y, Sakakihara Y et al (2016) Influence of sleep-onset time on the development of 18-month-old infants: Japan Children\u2019s cohort study. Brain Develop 38(4):364\u2013372","journal-title":"Brain Develop"},{"issue":"5 suppl 1","key":"790_CR8","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1590\/abd1806-4841.20164677","volume":"91","author":"G Almeida Jr","year":"2016","unstructured":"Almeida G Jr, Silva RMe, Batista SL, Pasetto F (2016) Pili Canaliculi as manifestation of giant axonal neuropathy. An Bras Dermatol 91(5 suppl 1):125\u2013127","journal-title":"An Bras Dermatol"},{"issue":"4","key":"790_CR9","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1016\/S0387-7604(89)80038-5","volume":"11","author":"RA Ouvrier","year":"1989","unstructured":"Ouvrier RA (1989) Giant axonal neuropathy a review. Brain Develop 11(4):207\u2013214","journal-title":"Brain Develop"},{"issue":"4","key":"790_CR10","doi-asserted-by":"publisher","first-page":"304","DOI":"10.4103\/aian.AIAN_82_18","volume":"21","author":"M Garg","year":"2018","unstructured":"Garg M, Kulkarni SD, Hegde AU, Desai M, Sayed RJ (2018) Giant axonal neuropathy: clinical, radiological, and genetic features. Ann Indian Acad Neurol 21(4):304\u2013308","journal-title":"Ann Indian Acad Neurol"},{"issue":"6","key":"790_CR11","doi-asserted-by":"publisher","first-page":"e2159","DOI":"10.1002\/mgg3.2159","volume":"11","author":"MR Ashrafi","year":"2023","unstructured":"Ashrafi MR, Dehnavi AZ, Tavasoli AR, Heidari M, Ghahvechi Akbari M, Ronagh AR et al (2023) Expanding the genetic spectrum of giant axonal neuropathy: two novel variants in Iranian families. Mol Genet Genom Med 11(6):e2159","journal-title":"Mol Genet Genom Med"},{"issue":"2","key":"790_CR12","doi-asserted-by":"publisher","first-page":"275","DOI":"10.24953\/turkjped.2019.02.019","volume":"61","author":"P Edem","year":"2019","unstructured":"Edem P, Karakaya M, Wirth B, Okur TD, Yi\u015f U (2019) Giant axonal neuropathy: a differential diagnosis of consideration. Turk J Pediatr 61(2):275\u2013278","journal-title":"Turk J Pediatr"},{"issue":"10","key":"790_CR13","doi-asserted-by":"publisher","first-page":"3239","DOI":"10.1093\/brain\/awab179","volume":"144","author":"DX Bharucha-Goebel","year":"2021","unstructured":"Bharucha-Goebel DX, Norato G, Saade D, Paredes E, Biancavilla V, Donkervoort S et al (2021) Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort. Brain 144(10):3239\u20133250","journal-title":"Brain"},{"issue":"14","key":"790_CR14","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25(14):1754\u20131760. https:\/\/doi.org\/10.1093\/bioinformatics\/btp324","journal-title":"Bioinformatics"},{"key":"790_CR15","doi-asserted-by":"crossref","unstructured":"Danecek P, Bonfield JK, Liddle J, Marshall J, Ohan V, Pollard MO, Whitwham A, Keane T, McCarthy SA, Davies RM (2021) Twelve years of SAMtools and BCFtools. GigaScience, 10(2), giab008","DOI":"10.1093\/gigascience\/giab008"},{"issue":"15","key":"790_CR16","doi-asserted-by":"publisher","first-page":"2114","DOI":"10.1093\/bioinformatics\/btu170","volume":"30","author":"AM Bolger","year":"2014","unstructured":"Bolger AM, Lohse M, Usadel B (2014) Trimmomatic: a flexible trimmer for Illumina sequence data. Bioinformatics 30(15):2114\u20132120","journal-title":"Bioinformatics"},{"issue":"9","key":"790_CR17","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","volume":"20","author":"A McKenna","year":"2010","unstructured":"McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA (2010) The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20(9):1297\u20131303","journal-title":"Genome Res"},{"issue":"10","key":"790_CR18","doi-asserted-by":"publisher","first-page":"983","DOI":"10.1038\/nbt.4235","volume":"36","author":"R Poplin","year":"2018","unstructured":"Poplin R, Chang PC, Alexander D, Schwartz S, Colthurst T, Ku A, Newburger D, Dijamco J, Nguyen N, Afshar PT, Gross SS, Dorfman L, McLean CY, Depristo MA (2018) A universal snp and small-indel variant caller using deep neural networks. Nat Biotechnol 36(10):983\u2013987. https:\/\/doi.org\/10.1038\/nbt.4235","journal-title":"Nat Biotechnol"},{"issue":"7","key":"790_CR19","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1136\/jmedgenet-2012-100918","volume":"49","author":"X Chang","year":"2012","unstructured":"Chang X, Wang K (2012) Wannovar: annotating genetic variants for personal genomes via the web. J Med Genet 49(7):433\u2013436. https:\/\/doi.org\/10.1136\/jmedgenet-2012-100918","journal-title":"J Med Genet"},{"issue":"16","key":"790_CR20","doi-asserted-by":"publisher","first-page":"e164","DOI":"10.1093\/nar\/gkq603","volume":"38","author":"K Wang","year":"2010","unstructured":"Wang K, Li M, Hakonarson H (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38(16):e164\u2013e164. https:\/\/doi.org\/10.1093\/nar\/gkq603","journal-title":"Nucleic Acids Res"},{"issue":"10","key":"790_CR21","doi-asserted-by":"publisher","first-page":"1556","DOI":"10.1038\/nprot.2015.105","volume":"10","author":"H Yang","year":"2015","unstructured":"Yang H, Wang K (2015) Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR. Nat Protoc 10(10):1556\u20131566. https:\/\/doi.org\/10.1038\/nprot.2015.105","journal-title":"Nat Protoc"},{"key":"790_CR22","doi-asserted-by":"crossref","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL (2015) 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. Genetics in Medicine, 17(5), 405\u2013423","DOI":"10.1038\/gim.2015.30"},{"issue":"11","key":"790_CR23","doi-asserted-by":"publisher","first-page":"1978","DOI":"10.1093\/bioinformatics\/bty897","volume":"35","author":"C Kopanos","year":"2019","unstructured":"Kopanos C, Tsiolkas V, Kouris A, Chapple CE, Albarca Aguilera M, Meyer R, Massouras A (2019) VarSome: the human genomic variant search engine. Bioinformatics 35(11):1978","journal-title":"Bioinformatics"},{"key":"#cr-split#-790_CR24.1","unstructured":"Kniffin CL (2013), November 6 Intellectual developmental disorder, autosomal recessive 38"},{"key":"#cr-split#-790_CR24.2","unstructured":"MRT38. Online Mendelian Inheritance in Man. Retrieved February 13, 2024, from https:\/\/www.omim.org\/entry\/615516"},{"key":"790_CR25","doi-asserted-by":"publisher","first-page":"W475","DOI":"10.1093\/nar\/gkt291","volume":"41W1","author":"R Sabarinathan","year":"2013","unstructured":"Sabarinathan R, Tafer H, Seemann SE, Hofacker IL, Stadler PF, Gorodkin J (2013) The RNAsnp web server: predicting SNP effects on local RNA secondary structure. Nucleic Acids Res 41W1:W475\u2013W479. https:\/\/doi.org\/10.1093\/nar\/gkt291","journal-title":"Nucleic Acids Res"},{"issue":"13","key":"790_CR26","doi-asserted-by":"publisher","first-page":"1605","DOI":"10.1002\/jcc.20084","volume":"25","author":"EF Pettersen","year":"2004","unstructured":"Pettersen EF, Goddard TD, Huang CC, Couch GS, Greenblatt DM, Meng EC, Ferrin TE (2004) UCSF Chimera - A visualization system for exploratory research and analysis. J Comput Chem 25(13):1605\u20131612. https:\/\/doi.org\/10.1002\/jcc.20084","journal-title":"J Comput Chem"},{"key":"790_CR27","unstructured":"National Center for Biotechnology Information (n.d.). ORF Finder. Retrieved from https:\/\/www.ncbi.nlm.nih.gov\/orffinder\/"},{"issue":"7809","key":"790_CR28","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1038\/s41586-020-2314-9","volume":"581","author":"KJ Karczewski","year":"2020","unstructured":"Karczewski KJ, Francioli LC, Tiao G et al (2020) The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581(7809):434\u2013443. https:\/\/doi.org\/10.1038\/s41586-020-2314-9","journal-title":"Nature"},{"issue":"7571","key":"790_CR29","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1038\/nature15393","volume":"526","author":"The 1000 Genomes Project Consortium","year":"2015","unstructured":"The 1000 Genomes Project Consortium (2015) A global reference for human genetic variation. Nature 526(7571):68\u201374. https:\/\/doi.org\/10.1038\/nature15393","journal-title":"Nature"},{"issue":"1","key":"790_CR30","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1016\/j.nmd.2013.06.007","volume":"24","author":"LA Roth","year":"2014","unstructured":"Roth LA, Johnson-Kerner BL, Marra JD, LaMarca NH, Sproule DM (2014) The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy. Neuromuscul Disord 24(1):48\u201355","journal-title":"Neuromuscul Disord"},{"key":"790_CR31","doi-asserted-by":"publisher","first-page":"568645","DOI":"10.3389\/fphys.2020.01022","volume":"11","author":"L Lescouz\u00e8res","year":"2020","unstructured":"Lescouz\u00e8res L, Bomont P (2020) E3 ubiquitin ligases in neurological diseases: focus on gigaxonin and autophagy. Front Physiol 11:568645","journal-title":"Front Physiol"},{"issue":"4","key":"790_CR32","doi-asserted-by":"publisher","first-page":"467","DOI":"10.1002\/mus.24321","volume":"50","author":"BL Johnson-Kerner","year":"2014","unstructured":"Johnson-Kerner BL, Roth L, Greene JP, Wichterle H, Sproule DM (2014) Giant axonal neuropathy: an updated perspective on its pathology and pathogenesis. Muscle Nerve 50(4):467\u2013476","journal-title":"Muscle Nerve"},{"issue":"5","key":"790_CR33","doi-asserted-by":"publisher","first-page":"40","DOI":"10.37549\/AR2481","volume":"47","author":"R Crete","year":"2018","unstructured":"Crete R, Jorgensen SA, Towbin AJ, Towbin R (2018) Giant axonal neuropathy. Appl Radiol 47(5):40\u201341","journal-title":"Appl Radiol"},{"issue":"12","key":"790_CR34","doi-asserted-by":"publisher","first-page":"1092","DOI":"10.1056\/NEJMoa2307952","volume":"21","author":"DX Bharucha-Goebel","year":"2024","unstructured":"Bharucha-Goebel DX, Todd J, Saade D, Norato G, Jain M, Lehky T, Bailey RM et al (2024) Intrathecal Gene Therapy for Giant Axonal Neuropathy. N Engl J Med 21(12):1092\u20131104. https:\/\/doi.org\/10.1056\/NEJMoa2307952","journal-title":"N Engl J Med"}],"container-title":["Neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-024-00790-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10048-024-00790-8","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-024-00790-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T04:04:17Z","timestamp":1769400257000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10048-024-00790-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,27]]},"references-count":35,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["790"],"URL":"https:\/\/doi.org\/10.1007\/s10048-024-00790-8","relation":{},"ISSN":["1364-6753"],"issn-type":[{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,27]]},"assertion":[{"value":"8 July 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 October 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 November 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the Ethics Committee of University of Tabriz (IR.TABRIZU.REC.1402.160).","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Written informed consent was taken from all participants.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"Not applicable.","order":6,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to publication"}}],"article-number":"11"}}