RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia von Tsuchiya, Mai, Nan, Haitian, Koh, Kishin, Ichinose, Yuta, Gao, Lihua, Shimozono, Keisuke, Hata, Takanori, Kim, Yeon-Jeong, Ohtsuka, Toshihisa, Cortese, Andrea, Takiyama, Yoshihisa

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Variants in saposin D domain of prosaposin gene linked to Parkinson's disease von Oji, Yutaka, Hatano, Taku, Ueno, Shin-Ichi, Funayama, Manabu, Ishikawa, Kei-ichi, Okuzumi, Ayami, Noda, Sachiko, Sato, Shigeto, Satake, Wataru, Toda, Tatsushi, Li, Yuanzhe, Hino-Takai, Tomoko, Kakuta, Soichiro, Tsunemi, Taiji, Yoshino, Hiroyo, Nishioka, Kenya, Hattori, Tatsuya, Mizutani, Yasuaki, Mutoh, Tatsuro, Yokochi, Fusako, Ichinose, Yuta, Koh, Kishin, Shindo, Kazumasa, Takiyama, Yoshihisa, Hamaguchi, Tsuyoshi, Yamada, Masahito, Farrer, Matthew J., Uchiyama, Yasuo, Akamatsu, Wado, Wu, Yih-Ru, Matsuda, Junko, Hattori, Nobutaka

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Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene von Nan, Haitian, Takaki, Ryusuke, Shimozono, Keisuke, Ichinose, Yuta, Koh, Kishin, Takiyama, Yoshihisa

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A Japanese SPG4 Patient with a Confirmed De Novo Mutation of the SPAST Gene von Nan, Haitian, Okamoto, Kensho, Gao, Lihua, Morishima, Yuto, Ichinose, Yuta, Koh, Kishin, Hashiyada, Masaki, Adachi, Noboru, Takiyama, Yoshihisa

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Novel GARS mutation presenting as autosomal dominant intermediate Charcot‐Marie‐Tooth disease von Nan, Haitian, Takaki, Ryusuke, Hata, Takanori, Ichinose, Yuta, Tsuchiya, Mai, Koh, Kishin, Takiyama, Yoshihisa

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Exome Sequencing Reveals a Novel Homozygous Frameshift Mutation in the CYP7B1 Gene in a Japanese Patient with SPG5 von Nan, Haitian, Shimozono, Keisuke, Ichinose, Yuta, Tsuchiya, Mai, Koh, Kishin, Hiraide, Masaki, Takiyama, Yoshihisa

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Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment von Koh, Kishin, Ishiura, Hiroyuki, Beppu, Minako, Shimazaki, Haruo, Ichinose, Yuta, Mitsui, Jun, Kuwabara, Satoshi, Tsuji, Shoji, Takiyama, Yoshihisa

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VPS13D‐related disorders presenting as a pure and complicated form of hereditary spastic paraplegia von Koh, Kishin, Ishiura, Hiroyuki, Shimazaki, Haruo, Tsutsumiuchi, Michiko, Ichinose, Yuta, Nan, Haitian, Hamada, Shun, Ohtsuka, Toshihisa, Tsuji, Shoji, Takiyama, Yoshihisa

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UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes von Nan, Haitian, Ichinose, Yuta, Tanaka, Masaki, Koh, Kishin, Ishiura, Hiroyuki, Mitsui, Jun, Mizukami, Heisuke, Morimoto, Masafumi, Hamada, Shun, Ohtsuka, Toshihisa, Tsuji, Shoji, Takiyama, Yoshihisa

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Sympathetic outflow to skin predicts central autonomic dysfunction in multiple system atrophy von Shindo, Kazumasa, Fukao, Toko, Kurita, Naofumi, Satake, Akane, Tsuchiya, Mai, Ichinose, Yuta, Hata, Takanori, Koh, Kishin, Nagasaka, Takamura, Takiyama, Yoshihisa

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Spinocerebellar ataxia type 31 associated with REM sleep behavior disorder: a case report von Shindo, Kazumasa, Sato, Tohko, Murata, Hiroaki, Ichinose, Yuta, Hata, Takanori, Takiyama, Yoshihisa

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Age‐related changes in blood pressure and heart rates of patients with Parkinson's disease von Shindo, Kazumasa, Morishima, Yuto, Suwa, Yumi, Fukao, Toko, Kurita, Takafumi, Satake, Akane, Tsuchiya, Mai, Ichinose, Yuta, Hata, Takanori, Koh, Kishin, Nagasaka, Takamura, Takiyama, Yoshihisa

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Pre- and postganglionic vasomotor dysfunction causes distal limb coldness in multiple system atrophy von Shindo, Kazumasa, Tsuchiya, Mai, Ichinose, Yuta, Koh, Kishin, Hata, Takanori, Yamashiro, Nobuo, Kobayashi, Fumikazu, Nagasaka, Takamura, Takiyama, Yoshihisa

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Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report von Hata, Takanori, Nagasaka, Takamura, Koh, Kishin, Tsuchiya, Mai, Ichinose, Yuta, Nan, Haitian, Shindo, Kazumasa, Takiyama, Yoshihisa

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A patient with ossification of the yellow ligament and ventriculomegaly with 22q11.2 deletion syndrome undiagnosed until adulthood von Ichinose, Yuta, Kurita, Takafumi, Satake, Akane, Natori, Takahiro, Shindo, Kazumasa, Takiyama, Yoshihisa

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PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia von Koh, Kishin, Ichinose, Yuta, Ishiura, Hiroyuki, Nan, Haitian, Mitsui, Jun, Takahashi, Junya, Sato, Wakiro, Itoh, Yoshiaki, Hoshino, Kyoko, Tsuji, Shoji, Takiyama, Yoshihisa

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Characteristic MRI findings in beta-propeller protein-associated neurodegeneration (BPAN) von Ichinose, Yuta, Miwa, Michiaki, Onohara, Akiko, Obi, Kimiko, Shindo, Kazumasa, Saitsu, Hirotomo, Matsumoto, Naomichi, Takiyama, Yoshihisa

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Conjugal multiple system atrophy: Computing chance or investigating real patients? von Nan, Haitian, Natori, Takahiro, Ichinose, Yuta, Koh, Kishin, Takiyama, Yoshihisa

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Conjugal multiple system atrophy: Be cautious when calculating numbers of probability von Nan, Haitian, Natori, Takahiro, Ichinose, Yuta, Koh, Kishin, Takiyama, Yoshihisa

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Palpebral ptosis as the initial symptom of amyotrophic lateral sclerosis von Shindo, Kazumasa, Satake, Akane, Fukao, Toko, Ichinose, Yuta, Takiyama, Yoshihisa

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