{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T22:10:11Z","timestamp":1783116611141,"version":"3.54.6"},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,12,12]],"date-time":"2024-12-12T00:00:00Z","timestamp":1733961600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,12,12]],"date-time":"2024-12-12T00:00:00Z","timestamp":1733961600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","award":["JPMH23FC1008"],"award-info":[{"award-number":["JPMH23FC1008"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP23ek0109673"],"award-info":[{"award-number":["JP23ek0109673"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP23ek0109617"],"award-info":[{"award-number":["JP23ek0109617"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP23ek0109631"],"award-info":[{"award-number":["JP23ek0109631"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP24K18698"],"award-info":[{"award-number":["JP24K18698"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP23K27514"],"award-info":[{"award-number":["JP23K27514"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["21K07512"],"award-info":[{"award-number":["21K07512"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006264","name":"RIKEN","doi-asserted-by":"publisher","award":["Glyco-lipidologue Initiative Program"],"award-info":[{"award-number":["Glyco-lipidologue Initiative Program"]}],"id":[{"id":"10.13039\/501100006264","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004721","name":"The University of Tokyo","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004721","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Introduction<\/jats:title>\n            <jats:p>Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder of the motor system. Pathogenic variants in <jats:italic>SPTLC1<\/jats:italic>, encoding a subunit of serine palmitoyltransferase, cause hereditary sensory and autonomic neuropathy type 1 (HSAN1), and have recently been associated with juvenile ALS. <jats:italic>SPTLC1<\/jats:italic> variants associated with ALS cause elevated levels of sphinganines and ceramides. Reports on ALS associated with <jats:italic>SPTLC1<\/jats:italic> remain limited. This study aimed to investigate the frequency of <jats:italic>SPTLC1<\/jats:italic> variants in ALS and relevant clinical characteristics.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>We analyzed whole-exome and whole-genome sequence data from 40 probands with familial ALS and 413 patients with sporadic ALS without previously identified causative variants. Reverse transcription polymerase chain reaction (RT-PCR) analysis and droplet digital PCR (ddPCR) were used to assess splicing and mosaicism, respectively. Plasma sphingolipid levels were quantified to analyze biochemical consequences.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>The heterozygous c.58G&gt;A, p.Ala20Thr variant was identified in a 21-year-old Japanese female patient presenting with symmetric weakness which slowly progressed over 15\u00a0years. RT-PCR analysis showed no splice defects. Plasma sphingolipid levels in the patient were significantly increased compared to her asymptomatic parents. ddPCR revealed that the asymptomatic father harbored a mosaic variant with 17% relative mutant allele abundance in peripheral blood leukocytes.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>We identified a pathogenic c.58G&gt;A, p.Ala20Thr <jats:italic>SPTLC1<\/jats:italic> variant in a patient with juvenile ALS, likely inherited from an asymptomatic parent with mosaicism. Lipid analysis results are consistent with previous findings on <jats:italic>SPTLC1<\/jats:italic>-associated ALS. Further studies are necessary to determine the clinical effect of mosaic variants of <jats:italic>SPTLC1<\/jats:italic>.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1007\/s00415-024-12776-5","type":"journal-article","created":{"date-parts":[[2024,12,12]],"date-time":"2024-12-12T12:22:00Z","timestamp":1734006120000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosis"],"prefix":"10.1007","volume":"272","author":[{"given":"So","family":"Okubo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1190-0499","authenticated-orcid":false,"given":"Hiroya","family":"Naruse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Ishiura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Sudo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kayoko","family":"Esaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Mitsui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Matsukawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wataru","family":"Satake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Greimel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nanoka","family":"Shingai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasushi","family":"Oya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeo","family":"Yoshikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shoji","family":"Tsuji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsushi","family":"Toda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,12,12]]},"reference":[{"key":"12776_CR1","doi-asserted-by":"publisher","first-page":"942","DOI":"10.1016\/S0140-6736(10)61156-7","volume":"377","author":"MC Kiernan","year":"2011","unstructured":"Kiernan MC, Vucic S, Cheah BC et al (2011) Amyotrophic lateral sclerosis. Lancet 377:942\u2013955. https:\/\/doi.org\/10.1016\/S0140-6736(10)61156-7","journal-title":"Lancet"},{"key":"12776_CR2","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1136\/jnnp.2010.224501","volume":"82","author":"S Byrne","year":"2011","unstructured":"Byrne S, Walsh C, Lynch C et al (2011) Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry 82:623\u2013627. https:\/\/doi.org\/10.1136\/jnnp.2010.224501","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"12776_CR3","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000200109","volume":"9","author":"J Barberio","year":"2023","unstructured":"Barberio J, Lally C, Kupelian V et al (2023) Estimated familial amyotrophic lateral sclerosis proportion: a literature review and meta-analysis. Neurol Genet 9:e200109. https:\/\/doi.org\/10.1212\/NXG.0000000000200109","journal-title":"Neurol Genet"},{"key":"12776_CR4","doi-asserted-by":"publisher","first-page":"255.e9","DOI":"10.1016\/j.neurobiolaging.2017.08.030","volume":"61","author":"H Naruse","year":"2018","unstructured":"Naruse H, Ishiura H, Mitsui J et al (2018) Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation. Neurobiol Aging 61:255.e9-255.e16. https:\/\/doi.org\/10.1016\/j.neurobiolaging.2017.08.030","journal-title":"Neurobiol Aging"},{"key":"12776_CR5","first-page":"301","volume-title":"Handbook of clinical neurology","author":"P Orban","year":"2007","unstructured":"Orban P, Devon RS, Hayden MR, Leavitt BR (2007) Chapter 15 Juvenile amyotrophic lateral sclerosis. In: Eisen AA, Shaw PJ (eds) Handbook of clinical neurology. Elsevier, Amsterdam, pp 301\u2013312"},{"key":"12776_CR6","doi-asserted-by":"publisher","first-page":"1935","DOI":"10.3390\/genes12121935","volume":"12","author":"T Lehky","year":"2021","unstructured":"Lehky T, Grunseich C (2021) Juvenile amyotrophic lateral sclerosis: a review. Genes (Basel) 12:1935. https:\/\/doi.org\/10.3390\/genes12121935","journal-title":"Genes (Basel)"},{"key":"12776_CR7","doi-asserted-by":"publisher","first-page":"311","DOI":"10.3390\/genes15030311","volume":"15","author":"PVS de Souza","year":"2024","unstructured":"de Souza PVS, de Serrano PL, Farias IB et al (2024) Clinical and genetic aspects of juvenile amyotrophic lateral sclerosis: a promising era emerges. Genes 15:311. https:\/\/doi.org\/10.3390\/genes15030311","journal-title":"Genes"},{"key":"12776_CR8","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1038\/85817","volume":"27","author":"K Bejaoui","year":"2001","unstructured":"Bejaoui K, Wu C, Scheffler MD et al (2001) SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Nat Genet 27:261\u2013262. https:\/\/doi.org\/10.1038\/85817","journal-title":"Nat Genet"},{"key":"12776_CR9","doi-asserted-by":"publisher","first-page":"1197","DOI":"10.1038\/s41591-021-01346-1","volume":"27","author":"P Mohassel","year":"2021","unstructured":"Mohassel P, Donkervoort S, Lone MA et al (2021) Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis. Nat Med 27:1197\u20131204. https:\/\/doi.org\/10.1038\/s41591-021-01346-1","journal-title":"Nat Med"},{"key":"12776_CR10","doi-asserted-by":"publisher","first-page":"1236","DOI":"10.1001\/jamaneurol.2021.2598","volume":"78","author":"JO Johnson","year":"2021","unstructured":"Johnson JO, Chia R, Miller DE et al (2021) Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis. JAMA Neurol 78:1236. https:\/\/doi.org\/10.1001\/jamaneurol.2021.2598","journal-title":"JAMA Neurol"},{"key":"12776_CR11","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1136\/jnnp-2023-332132","volume":"95","author":"SB Syeda","year":"2024","unstructured":"Syeda SB, Lone MA, Mohassel P et al (2024) Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis. J Neurol Neurosurg Psychiatry 95:103\u2013113. https:\/\/doi.org\/10.1136\/jnnp-2023-332132","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"12776_CR12","doi-asserted-by":"publisher","first-page":"946","DOI":"10.1002\/acn3.52013","volume":"11","author":"H Naruse","year":"2024","unstructured":"Naruse H, Ishiura H, Esaki K et al (2024) SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis. Ann Clin Transl Neurol 11:946\u2013957. https:\/\/doi.org\/10.1002\/acn3.52013","journal-title":"Ann Clin Transl Neurol"},{"key":"12776_CR13","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1016\/j.clinph.2007.09.143","volume":"119","author":"M de Carvalho","year":"2008","unstructured":"de Carvalho M, Dengler R, Eisen A et al (2008) Electrodiagnostic criteria for diagnosis of ALS. Clin Neurophysiol 119:497\u2013503. https:\/\/doi.org\/10.1016\/j.clinph.2007.09.143","journal-title":"Clin Neurophysiol"},{"key":"12776_CR14","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1007\/s10048-020-00626-1","volume":"22","author":"H Naruse","year":"2021","unstructured":"Naruse H, Ishiura H, Mitsui J et al (2021) Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis. Neurogenetics 22:11\u201317. https:\/\/doi.org\/10.1007\/s10048-020-00626-1","journal-title":"Neurogenetics"},{"key":"12776_CR15","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1136\/jnnp-2018-318568","volume":"90","author":"H Naruse","year":"2019","unstructured":"Naruse H, Ishiura H, Mitsui J et al (2019) Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS. J Neurol Neurosurg Psychiatry 90:537\u2013542. https:\/\/doi.org\/10.1136\/jnnp-2018-318568","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"12776_CR16","doi-asserted-by":"publisher","first-page":"576","DOI":"10.1080\/21678421.2020.1813312","volume":"22","author":"H Naruse","year":"2021","unstructured":"Naruse H, Ishiura H, Mitsui J et al (2021) Juvenile amyotrophic lateral sclerosis with complex phenotypes associated with novel SYNE1 mutations. Amyotroph Lateral Scler Frontotemporal Degener 22:576\u2013578. https:\/\/doi.org\/10.1080\/21678421.2020.1813312","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener"},{"key":"12776_CR17","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1038\/ng.2892","volume":"46","author":"M Kircher","year":"2014","unstructured":"Kircher M, Witten DM, Jain P et al (2014) A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 46:310\u2013315. https:\/\/doi.org\/10.1038\/ng.2892","journal-title":"Nat Genet"},{"key":"12776_CR18","doi-asserted-by":"publisher","first-page":"1581","DOI":"10.1038\/ng.3703","volume":"48","author":"KA Jagadeesh","year":"2016","unstructured":"Jagadeesh KA, Wenger AM, Berger MJ et al (2016) M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity. Nat Genet 48:1581\u20131586. https:\/\/doi.org\/10.1038\/ng.3703","journal-title":"Nat Genet"},{"key":"12776_CR19","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1002\/humu.22225","volume":"34","author":"HA Shihab","year":"2013","unstructured":"Shihab HA, Gough J, Cooper DN et al (2013) Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. Hum Mutat 34:57\u201365. https:\/\/doi.org\/10.1002\/humu.22225","journal-title":"Hum Mutat"},{"key":"12776_CR20","doi-asserted-by":"publisher","first-page":"14595","DOI":"10.1074\/jbc.M114.603860","volume":"290","author":"K Esaki","year":"2015","unstructured":"Esaki K, Sayano T, Sonoda C et al (2015) l-Serine deficiency elicits intracellular accumulation of cytotoxic deoxysphingolipids and lipid body formation. J Biol Chem 290:14595\u201314609. https:\/\/doi.org\/10.1074\/jbc.M114.603860","journal-title":"J Biol Chem"},{"key":"12776_CR21","doi-asserted-by":"publisher","first-page":"315","DOI":"10.3390\/biom4010315","volume":"4","author":"AS Don","year":"2014","unstructured":"Don AS, Lim XY, Couttas TA (2014) Re-configuration of sphingolipid metabolism by oncogenic transformation. Biomolecules 4:315\u2013353. https:\/\/doi.org\/10.3390\/biom4010315","journal-title":"Biomolecules"},{"key":"12776_CR22","doi-asserted-by":"publisher","first-page":"488","DOI":"10.3389\/fnins.2016.00488","volume":"10","author":"R Castillo","year":"2016","unstructured":"Castillo R, Rojo L, Henr\u00edquez Henr\u00edquez M et al (2016) From molecules to the clinic: linking schizophrenia and metabolic syndrome through sphingolipids metabolism. Front Neurosci 10:488. https:\/\/doi.org\/10.3389\/fnins.2016.00488","journal-title":"Front Neurosci"},{"key":"12776_CR23","doi-asserted-by":"publisher","first-page":"e12842","DOI":"10.1111\/nan.12842","volume":"48","author":"C Fiorillo","year":"2022","unstructured":"Fiorillo C, Capodivento G, Geroldi A et al (2022) The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment. Neuropathol Appl Neurobiol 48:e12842. https:\/\/doi.org\/10.1111\/nan.12842","journal-title":"Neuropathol Appl Neurobiol"},{"key":"12776_CR24","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1097\/CM9.0000000000002495","volume":"136","author":"P Wang","year":"2023","unstructured":"Wang P, Wei Q, Li H, Wu Z-Y (2023) Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations. Chin Med J (Engl) 136:176\u2013183. https:\/\/doi.org\/10.1097\/CM9.0000000000002495","journal-title":"Chin Med J (Engl)"},{"key":"12776_CR25","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1089\/cmb.1997.4.311","volume":"4","author":"MG Reese","year":"1997","unstructured":"Reese MG, Eeckman FH, Kulp D, Haussler D (1997) Improved splice site detection in Genie. J Comput Biol 4:311\u2013323. https:\/\/doi.org\/10.1089\/cmb.1997.4.311","journal-title":"J Comput Biol"},{"key":"12776_CR26","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1016\/j.cell.2018.12.015","volume":"176","author":"K Jaganathan","year":"2019","unstructured":"Jaganathan K, Kyriazopoulou Panagiotopoulou S, McRae JF et al (2019) Predicting splicing from primary sequence with deep learning. Cell 176:535-548.e24. https:\/\/doi.org\/10.1016\/j.cell.2018.12.015","journal-title":"Cell"},{"key":"12776_CR27","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1089\/1066527041410418","volume":"11","author":"G Yeo","year":"2004","unstructured":"Yeo G, Burge CB (2004) Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 11:377\u2013394. https:\/\/doi.org\/10.1089\/1066527041410418","journal-title":"J Comput Biol"},{"key":"12776_CR28","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1016\/j.gene.2005.07.015","volume":"366","author":"M Wang","year":"2006","unstructured":"Wang M, Mar\u00edn A (2006) Characterization and prediction of alternative splice sites. Gene 366:219\u2013227. https:\/\/doi.org\/10.1016\/j.gene.2005.07.015","journal-title":"Gene"},{"key":"12776_CR29","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1038\/s41594-020-00553-7","volume":"28","author":"S Li","year":"2021","unstructured":"Li S, Xie T, Liu P et al (2021) Structural insights into the assembly and substrate selectivity of human SPT-ORMDL3 complex. Nat Struct Mol Biol 28:249\u2013257. https:\/\/doi.org\/10.1038\/s41594-020-00553-7","journal-title":"Nat Struct Mol Biol"},{"key":"12776_CR30","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1038\/s41594-020-00551-9","volume":"28","author":"Y Wang","year":"2021","unstructured":"Wang Y, Niu Y, Zhang Z et al (2021) Structural insights into the regulation of human serine palmitoyltransferase complexes. Nat Struct Mol Biol 28:240\u2013248. https:\/\/doi.org\/10.1038\/s41594-020-00551-9","journal-title":"Nat Struct Mol Biol"},{"key":"12776_CR31","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1016\/j.cancergen.2019.04.005","volume":"235\u2013236","author":"TP Slavin","year":"2019","unstructured":"Slavin TP, Coffee B, Bernhisel R et al (2019) Prevalence and characteristics of likely-somatic variants in cancer susceptibility genes among individuals who had hereditary pan-cancer panel testing. Cancer Genet 235\u2013236:31\u201338. https:\/\/doi.org\/10.1016\/j.cancergen.2019.04.005","journal-title":"Cancer Genet"},{"key":"12776_CR32","doi-asserted-by":"publisher","first-page":"1460","DOI":"10.1001\/archderm.1993.01680320094012","volume":"129","author":"R Happle","year":"1993","unstructured":"Happle R (1993) Mosaicism in human skin: understanding the patterns and mechanisms. Arch Dermatol 129:1460\u20131470. https:\/\/doi.org\/10.1001\/archderm.1993.01680320094012","journal-title":"Arch Dermatol"},{"key":"12776_CR33","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1016\/j.nmd.2021.12.004","volume":"32","author":"A Kubota","year":"2022","unstructured":"Kubota A, Ishiura H, Porto KJL et al (2022) DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicism. Neuromuscul Disord 32:263\u2013269. https:\/\/doi.org\/10.1016\/j.nmd.2021.12.004","journal-title":"Neuromuscul Disord"},{"key":"12776_CR34","doi-asserted-by":"publisher","first-page":"1311","DOI":"10.1038\/cr.2014.131","volume":"24","author":"AY Huang","year":"2014","unstructured":"Huang AY, Xu X, Ye AY et al (2014) Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals. Cell Res 24:1311\u20131327. https:\/\/doi.org\/10.1038\/cr.2014.131","journal-title":"Cell Res"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-024-12776-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-024-12776-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-024-12776-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,29]],"date-time":"2025-01-29T17:58:50Z","timestamp":1738173530000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00415-024-12776-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,12]]},"references-count":34,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["12776"],"URL":"https:\/\/doi.org\/10.1007\/s00415-024-12776-5","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,12]]},"assertion":[{"value":"11 September 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 October 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 October 2024","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 December 2024","order":4,"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 conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}},{"value":"This study was approved by the Institutional Review Board of the University of Tokyo. The procedures used in this study adhere to the tenets of the Declaration of Helsinki.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Genomic DNA and plasma samples were obtained from all participants after obtaining written informed consent.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"Additional informed consent was obtained from all individual participants for whom identifying information is included in this article.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to publish"}}],"article-number":"36"}}