1. Furukawa Y, Nishi K, Kondo T, Mizuno Y, Narabayashi H. CSF biopterin levels and clinical features of patients with juvenile parkinsonism. Adv Neurol. 1993;60:562–7.
2. Furukawa Y, Shimadzu M, Rajput AH, Shimuzu Y, Tagawa T, Mori H, et al. GTP-cyclohydrolase I gene mutations in hereditary progressive and dopa-responsive dystonia. Ann Neurol. 1996;39:609–17. https://doi.org/10.1002/ana.410390510.
3. Furukawa Y, Guttman M, Sparagana SP, Trugman JM, Hyland K, Wyatt P, et al. Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene. Ann Neurol. 2000;47:517–20. https://doi.org/10.1002/1531-8249(200004)47:43.0.CO;2-B
4. Nygaard TG. Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis. Adv Neurol. 1993;60:577–85.
5. Segawa M, Nomura Y. Hereditary progressive dystonia with marked diurnal fluctuation. In: Segawa M, editor. Hereditary progressive dystonia with marked diurnal fluctuation. New York: Parthenon Publishing; 1993. p. 3–19.