Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease von Yamaguchi-Takegami, Nanaka, Takahashi, Akiko, Mitsui, Jun, Sugiyama, Yusuke, Chikada, Ayaka, Porto, Kristine Joyce L, Takegami, Naoki, Sakuishi, Kaori, Ishiura, Hiroyuki, Yamada, Kaoru, Shimizu, Jun, Tsuji, Shoji, Toda, Tatsushi

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A novel multi‐exon deletion in the dysferlin gene of a limb‐girdle muscular dystrophy type 2B Filipino patient von Porto, Kristine Joyce L., Mitsui, Jun, Ishiura, Hiroyuki, Kubota, Akatsuki, Luspian, Kathleen Jaye L., Eduardo, Emmanuel, Damian, Ludwig, Toda, Tatsushi, Tsuji, Shoji

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A novel mutation in ABCD1 gene in a Filipino patient with adult‐onset X‐linked ALD von Porto, Kristine Joyce, Matsukawa, Takashi, Ishiura, Hiroyuki, Mitsui, Jun, Matic, Alexandria, Yu, Justine Megan, Dominguez, Jacqueline, Damian, Ludwig, Toda, Tatsushi, Tsuji, Shoji

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COQ2 V393A confers high risk susceptibility for multiple system atrophy in East Asian population von Porto, Kristine Joyce, Hirano, Makito, Mitsui, Jun, Chikada, Ayaka, Matsukawa, Takashi, Ishiura, Hiroyuki, Toda, Tatsushi, Kusunoki, Susumu, Tsuji, Shoji

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Multiple system atrophy variant with severe hippocampal pathology von Ando, Takashi, Riku, Yuichi, Akagi, Akio, Miyahara, Hiroaki, Hirano, Mitsuaki, Ikeda, Toshimasa, Yabata, Hiroyuki, Koizumi, Ryuichi, Oba, Chisato, Morozumi, Saori, Yasui, Keizo, Goto, Atsuko, Katayama, Taiji, Sakakibara, Satoko, Aiba, Ikuko, Sakai, Motoko, Konagaya, Masaaki, Mori, Keiko, Ito, Yasuhiro, Yuasa, Hiroyuki, Nomura, Masayo, Porto, Kristine Joyce L., Mitsui, Jun, Tsuji, Shoji, Mimuro, Maya, Hashizume, Yoshio, Katsuno, Masahisa, Iwasaki, Yasushi, Yoshida, Mari

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Clinical and Genetic Features of Multiplex Families with Multiple System Atrophy and Parkinson’s Disease von Matsukawa, Takashi, Porto, Kristine Joyce L., Mitsui, Jun, Chikada, Ayaka, Ishiura, Hiroyuki, Takahashi, Yuji, Nakamoto, Fumiko Kusunoki, Seki, Tomonari, Shiio, Yasushi, Toda, Tatsushi, Tsuji, Shoji

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A Japanese family with primary familial brain calcification presenting with paroxysmal kinesigenic dyskinesia - A comprehensive mutational analysis von Mitsutake, Akihiko, Matsukawa, Takashi, Porto, Kristine Joyce L., Sato, Tatsuya, Katsumata, Junko, Seki, Tomonari, Maekawa, Risa, Hideyama, Takuto, Tanaka, Masaki, Ishiura, Hiroyuki, Toda, Tatsushi, Tsuji, Shoji, Shiio, Yasushi

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High-dose ubiquinol supplementation in multiple-system atrophy: a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial von Mitsui, Jun, Matsukawa, Takashi, Uemura, Yukari, Kawahara, Takuya, Chikada, Ayaka, Porto, Kristine Joyce L., Naruse, Hiroya, Tanaka, Masaki, Ishiura, Hiroyuki, Toda, Tatsushi, Kuzuyama, Haruko, Hirano, Mari, Wada, Ikue, Ga, Toshio, Moritoyo, Takashi, Takahashi, Yuji, Mizusawa, Hidehiro, Ishikawa, Kinya, Yokota, Takanori, Kuwabara, Satoshi, Sawamoto, Nobukatsu, Takahashi, Ryosuke, Abe, Koji, Ishihara, Tomohiko, Onodera, Osamu, Matsuse, Dai, Yamasaki, Ryo, Kira, Jun-Ichi, Katsuno, Masahisa, Hanajima, Ritsuko, Ogata, Katsuhisa, Takashima, Hiroshi, Matsushima, Masaaki, Yabe, Ichiro, Sasaki, Hidenao, Tsuji, Shoji

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Clinical Impact of Copy Number Variation on the Genetic Diagnosis of Syndromic Aortopathies von Takeda, Norifumi, Inuzuka, Ryo, Yagi, Hiroki, Morita, Hiroyuki, Ando, Masahiko, Yamauchi, Haruo, Taniguchi, Yuki, Porto, Kristine Joyce, Kanaya, Tsubasa, Ishiura, Hiroyuki, Mitsui, Jun, Tsuji, Shoji, Toda, Tatsushi, Ono, Minoru, Komuro, Issei

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Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene von Yagi, Hiroki, Takiguchi, Hiroshi, Takeda, Norifumi, Inuzuka, Ryo, Taniguchi, Yuki, Porto, Kristine Joyce, Ishiura, Hiroyuki, Mitsui, Jun, Morita, Hiroyuki, Komuro, Issei

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DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicism von Kubota, Akatsuki, Ishiura, Hiroyuki, Porto, Kristine Joyce Linay, Tanaka, Masaki, Mitsui, Jun, Unuma, Atsushi, Maki, Hisataka, Komuro, Issei, Tsuji, Shoji, Shimizu, Jun, Toda, Tatsushi

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Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease von Yamaguchi-Takegami, Nanaka, Takahashi, Akiko, Mitsui, Jun, Sugiyama, Yusuke, Chikada, Ayaka, Porto, Kristine Joyce L, Takegami, Naoki, Sakuishi, Kaori, Ishiura, Hiroyuki, Yamada, Kaoru, Shimizu, Jun, Tsuji, Shoji, Toda, Tatsushi

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Clinical Impact of Copy Number Variation on the Genetic Diagnosis of Syndromic Aortopathies von Takeda, Norifumi, Inuzuka, Ryo, Yagi, Hiroki, Morita, Hiroyuki, Ando, Masahiko, Yamauchi, Haruo, Taniguchi, Yuki, Porto, Kristine Joyce, Kanaya, Tsubasa, Ishiura, Hiroyuki, Mitsui, Jun, Tsuji, Shoji, Toda, Tatsushi, Ono, Minoru, Komuro, Issei

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DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicism von Kubota, Akatsuki, Ishiura, Hiroyuki, Porto, Kristine Joyce Linay, Tanaka, Masaki, Mitsui, Jun, Unuma, Atsushi, Maki, Hisataka, Komuro, Issei, Tsuji, Shoji, Shimizu, Jun, Toda, Tatsushi

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Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene von Yagi, Hiroki, Takiguchi, Hiroshi, Takeda, Norifumi, Inuzuka, Ryo, Taniguchi, Yuki, Porto, Kristine Joyce, Ishiura, Hiroyuki, Mitsui, Jun, Morita, Hiroyuki, Komuro, Issei

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