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Ito D, Suzuki N. Seipinopathy: a novel endoplasmic reticulum stress-associated disease. Brain 132: 8-15, 2009."},{"key":"2","doi-asserted-by":"publisher","unstructured":"2. Windpassinger C, Auer-Grumbach M, Irobi J, et al. Heterozygous missense mutations in <i>BSCL2<\/i> are associated with distal hereditary motor neuropathy and Silver syndrome. Nature Genetics 36: 271-276, 2004.","DOI":"10.1038\/ng1313"},{"key":"3","unstructured":"3. Choi BO, Park MH, Chung KW, et al. Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in <i>BSCL2<\/i>. Neurogenetics 14: 35-42, 2013."},{"key":"4","unstructured":"4. Hsiao CT, Tsai PC, Lin CC, et al. Clinical and molecular characterization of <i>BSCL2<\/i> mutations in a Taiwanese cohort with hereditary neuropathy. PloS One 11: e0147677, 2016."},{"key":"5","unstructured":"5. Auer-Grumbach M, Schlotter-Weigel B, Lochmuller H, et al. 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