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Identification of novel SNPs of <i>ABCD1<\/i>, <i>ABCD2<\/i>, <i>ABCD3<\/i>, and <i>ABCD4<\/i> genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes. Neurogenetics 12: 41-50, 2011.","DOI":"10.1007\/s10048-010-0253-6"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Takano H, Koike R, Onodera O, Sasaki R, Tsuji S. Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy. Arch Neurol 56: 295-300, 1999.","DOI":"10.1001\/archneur.56.3.295"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Wiesinger C, Eichler FS, Berger J. The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis. Appl Clin Genet 8: 109-121, 2015.","DOI":"10.2147\/TACG.S49590"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Schl\u00fcter A, Sandoval J, Fourcade S, et al. Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation. Brain Pathol 28: 902-919, 2018.","DOI":"10.1111\/bpa.12595"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Suzuki Y, Takemoto Y, Shimozawa N, et al. Natural history of X-linked adrenoleukodystrophy in Japan. Brain Dev 27: 353-357, 2005.","DOI":"10.1016\/j.braindev.2004.09.008"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Takemoto Y, Suzuki Y, Tamakoshi A, et al. Epidemiology of X-linked adrenoleukodystrophy in Japan. J Hum Genet 47: 590-593, 2002.","DOI":"10.1007\/s100380200090"},{"key":"10","unstructured":"10. Loes DJ, Hite S, Moser H, et al. Adrenoleukodystrophy: a scoring method for brain MR observations. AJNR Am J Neuroradiol 15: 1761-1766, 1994."},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. van de Stadt SIW, Mooyer PAW, Dijkstra IME, et al. Biochemical studies in fibroblasts to interpret variants of unknown significance in the <i>ABCD1<\/i> gene. Genes (Basel) 12: 1930, 2021.","DOI":"10.3390\/genes12121930"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Lira MG, Mottes M, Pignatti PF, et al. Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations. Hum Mutat 16: 271, 2000.","DOI":"10.1002\/1098-1004(200009)16:3<271::AID-HUMU15>3.0.CO;2-D"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Chen Y, Polara F, Pillai A. Rare variability in adrenoleukodystrophy: a case report. J Med Case Rep 12: 182, 2018.","DOI":"10.1186\/s13256-018-1722-z"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Wichers M, K\u00f6hler W, Brennemann W, et al. X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset. Hum Genet 105: 116-119, 1999.","DOI":"10.1007\/s004399900090"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Shukla P, Gupta N, Gulati S, et al. Molecular analysis of <i>ABCD1<\/i> gene in Indian patients with X-linked adrenoleukodystrophy. Clin Chim Acta 412: 2289-2295, 2011.","DOI":"10.1016\/j.cca.2011.08.026"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Inoue S, Terada S, Matsumoto T, Ujike H, Uchitomi Y. A case of adult-onset adrenoleukodystrophy with frontal lobe dysfunction: a novel point mutation in the ABCD1 gene. Intern Med 51: 1403-1406, 2012.","DOI":"10.2169\/internalmedicine.51.6899"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Amorosi CA, Mysk\u00f3va H, Monti MR, et al. X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patients. PLoS One 7: e52635, 2012.","DOI":"10.1371\/journal.pone.0052635"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Park HJ, Shin HY, Kang HC, et al. Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy. Yonsei Med J 55: 676-682, 2014.","DOI":"10.3349\/ymj.2014.55.3.676"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Guimar\u00e3es CP, Lemos M, Menezes I, Coelho T, S\u00e1-Miranda C, Azevedo JE. Characterisation of two mutations in the <i>ABCD1<\/i> gene leading to low levels of normal ALDP. Hum Genet 109: 616-622, 2001.","DOI":"10.1007\/s00439-001-0632-z"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Kallabi F, Hadj Salem I, Ben Chehida A, et al. Splicing defects in <i>ABCD1<\/i> gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient. Neurosci Res 97: 7-12, 2015.","DOI":"10.1016\/j.neures.2015.03.005"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Hung KL, Wang JS, Keng WT, et al. Mutational analyses on X-linked adrenoleukodystrophy reveal a novel cryptic splicing and three missense mutations in the <i>ABCD1<\/i> gene. Pediatr Neurol 49: 185-190, 2013.","DOI":"10.1016\/j.pediatrneurol.2013.04.021"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Margoni M, Soli F, Sangalli A, Bellizzi M, Cecchini E, Buganza M. A novel mutation in ABCD1 unveils different clinical phenotypes in a family with adrenoleukodystrophy. J Clin Neurosci 43: 175-177, 2017.","DOI":"10.1016\/j.jocn.2017.05.025"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Kemp S, Ligtenberg MJ, van Geel BM, et al. Two intronic mutations in the adrenoleukodystrophy gene. Hum Mutat 6: 272-273, 1995.","DOI":"10.1002\/humu.1380060316"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24. Lejeune F. Nonsense-mediated mRNA decay at the crossroads of many cellular pathways. 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