S. Yukishita

Dystonias responding to levodopa and failure in biopterin metabolism.

N. Nishiyama, M. Segawa, Y. Nomura, 1998, Advances in neurology.

Gene mutation in hereditary progressive dystonia with marked diurnal fluctuation (HPD), strictly defined dopa-responsive dystonia

N. Nishiyama, M. Segawa, Y. Nomura, 2000, Brain and Development.

Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing

T. Matsuishi, A. Fattal-Valevski, A. Takata, 2019, Journal of Medical Genetics.

26 – Long-term effects of L-dopa on hereditary progressive dystonia with marked diurnal fluctuation

N. Nishiyama, K. Nagata, S. Yamashita, 1990 .

Is phenotypic variation of hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) caused by the difference of the locus of mutation on the GTP cyclohydrolase 1 (GCH-1) gene?

N. Nishiyama, M. Yokochi, M. Segawa, 2004, Advances in neurology.