Yuri Mizuno, Taira Uehara, Yuri Nakamura, Toshiki Okadome, Takahiko Mukaino, Kishin Koh, Yoshihisa Takiyama, Takashi Kanbayashi, Noriko Isobe, Jun-Ichi Kira, et al. A case of monozygotic twins with hereditary spastic paraplegia type 4 and epilepsy, of whom only one developed narcolepsy type 1. Journal of sleep research. 2023. e14102
Masahiro Ando, Yujiro Higuchi, Junhui Yuan, Akiko Yoshimura, Takaki Taniguchi, Jun Takei, Mika Takeuchi, Yu Hiramatsu, Fumitaka Shimizu, Masaya Kubota, et al. Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease. Annals of clinical and translational neurology. 2022. 9. 7. 902-911
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane S Müller, Rolf Stucka, Christian Beetz, Stephanie Efthymiou, Filippo M Santorelli, Ahmed A Alfares, et al. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Brain : a journal of neurology. 2021