A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical fi... von Kondo, Daiki, Noguchi, Atsuko, Takahashi, Ikuko, Kubota, Hiroki, Yano, Tamami, Sato, Yoko, Toyono, Miyuki, Sawaishi, Yukio, Takahashi, Tsutomu

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Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy von Yamamoto, Toshiyuki, Shimojima, Keiko, Yano, Tamami, Ueda, Yuki, Takayama, Rumiko, Ikeda, Hiroko, Imai, Katsumi

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Elevated Urinary Levels of 8-Hydroxy-2′-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome von Kondo, Daiki, Noguchi, Atsuko, Tamura, Hiroaki, Tsuchida, Satoko, Takahashi, Ikuko, Kubota, Hiroki, Yano, Tamami, Oyama, Chikako, Sawaishi, Yukio, Moriwaki, Shinichi, Takahashi, Tsutomu

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Three-Year Longitudinal Motor Function and Disability Level of Acute Flaccid Myelitis von Chong, Pin Fee, Kira, Ryutaro, Torisu, Hiroyuki, Yasumoto, Sawa, Okumura, Akihisa, Mori, Harushi, Tanaka-Taya, Keiko, Sato, Tatsuharu, Kanazawa, Akane, Suzuki, Keiko, Toyofuku, Etsushi, Fukuyama, Tetsuhiro, Asaoka, Mari, Fujita, Takako, Yano, Tamami, Kumakura, Akira, Kawabata, Takayoshi, Miyatake, Chiharu, Hiyane, Masato, Moriyama, Nobuko, Kawamura, Naohisa, Tanaka, Kenichi, Ohta, Genrei, Ono, Sahoko, Ban, Kyoko, Sugiyama, Nobuyoshi, Ohta, Kazuhide, Inoue, Mika, Sakajiri, Kenichi, Yamamuro, Miho, Endo, Yusaku, Nakano, Kotaro, Yoshida, Noboru, Suzuki, Yasuhiro, Takami, Yuichi, Kasai, Mariko, Takahashi, Yuya, Miyamoto, Tomoyuki, Ishida, Yu, Takeshita, Eri, Abe, Yuichi, Kubota, Sonoko, Ishii, Wakako, Tsuyusaki, Yu, Hattori, Ayako, Nagura, Michiaki, Koran, Nozomi, Toki, Taira, Goto, Shinichiro, Terashima, Hiroshi, Kikuchi, Eriko, Mikami, Hitoshi, Konishi, Yukihiko

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A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia von Takahashi, Ikuko, Kondo, Daiki, Oyama, Chikako, Yano, Tamami, Tamura, Hiroaki, Noguchi, Atsuko, Takahashi, Tsutomu

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Nationwide survey (incidence, clinical course, prognosis) of Rasmussen’s encephalitis von Muto, Ayako, Oguni, Hirokazu, Takahashi, Yukitoshi, Shirasaka, Yukiyoshi, Sawaishi, Yukio, Yano, Tamami, Hoshida, Toru, Osaka, Hitoshi, Nakasu, Satoru, Akasaka, Noriyuki, Sugai, Kenji, Miyamoto, Akie, Takahashi, Satoru, Suzuki, Motomasa, Ohmori, Iori, Nabatame, Shin, Osawa, Makiko

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Alexander disease with mild dorsal brainstem atrophy and infantile spasms von Torisu, Hiroyuki, Yoshikawa, Yoko, Yamaguchi-Takada, Yui, Yano, Tamami, Sanefuji, Masafumi, Ishizaki, Yoshito, Sawaishi, Yukio, Hara, Toshiro

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Hypocretin-1 (orexin-A) levels in human lumbar CSF in different age groups: Infants to elderly persons von KANBAYASHI, Takashi, YANO, Tamami, ISHIGURO, Hideaki, KAWANISHI, Kentoh, CHIBA, Shigeru, AIZAWA, Rika, SAWAISHI, Yukio, HIROTA, Kouichi, NISHINO, Seiji, SHIMIZU, Tetsuo

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Clinical Features of Acute Flaccid Myelitis Temporally Associated With an Enterovirus D68 Outbreak: Results of a Nationwide Survey of Acute Flaccid Paralysis in Japan, August-Decem... von Chong, Pin Fee, Kira, Ryutaro, Mori, Harushi, Okumura, Akihisa, Torisu, Hiroyuki, Yasumoto, Sawa, Shimizu, Hiroyuki, Fujimoto, Tsuguto, Hanaoka, Nozomu, Kusunoki, Susumu, Takahashi, Toshiyuki, Oishi, Kazunori, Tanaka-Taya, Keiko

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Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano‐like pattern von Yanagishita, Tomoe, Imaizumi, Taichi, Yamamoto‐Shimojima, Keiko, Yano, Tamami, Okamoto, Nobuhiko, Nagata, Satoru, Yamamoto, Toshiyuki

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A Hippocampal Lesion Detected by High-Field 3 Tesla Magnetic Resonance Imaging in a Patient with Temporal Lobe Epilepsy von Sawaishi, Yukio, Sasaki, Makoto, Yano, Tamami, Hirayama, Aya, Akabane, Jinzo, Takada, Goro

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Lidocaine‐dependent Early Infantile Status Epilepticus with Highly Suppressed EEG von Sawaishi, Yukio, Yano, Tamami, Enoki, Masamichi, Takada, Goro

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Positron emission tomography in juvenile Alexander disease von Sawaishi, Yukio, Hatazawa, Jun, Ochi, Nobuhiko, Hirono, Hiyoshi, Yano, Tamami, Watanabe, Yasuhiro, Okudera, Toshio, Takada, Goro

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Accumulation of GM2 Ganglioside in Niemann-Pick Disease Type C Fibroblasts von YANO, Tamami, TANIGUCHI, Miyako, AKABOSHI, Shinjiro, VANIER, Marie-Thèrése, TAI, Tadashi, SAKURABA, Hitoshi, OHNO, Kousaku

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AN INVESTIGATION OF MOLECULAR LESIONS IN TWO JAPANESE FAMILIES WITH FAMILIAL PAROXYSMAL KINESIGENIC DYSKINESIA von Hiroki Kubota, Atsuko Noguchi, Tamami Yano, Daiki Kondo, Tsutomu Takahashi

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Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene von SAWAISHI, Yukio, YANO, Tamami, TAKAKU, Iwao, TAKADA, Goro

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Enzyme Therapy in Gaucher Disease Type 2: An Autopsy Case von Takahashi, Tsutomu, Yoshida, Yasuji, Sato, Wataru, Yano, Tamami, Shoji, Yutaka, Sawaishi, Yukio, Sakuma, Ikuro, Sashi, Takashi, Enomoto, Katsuhiko, Ida, Hiroyuki, Takada, Goro

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A Japanese case of infantile sialic acid storage disease von Nakano, Chizuko, Hirabayashi, Yoshio, Ohno, Kousaku, Yano, Tamami, Mito, Takashi, Sakurai, Minoru

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Increased levels of GM 2 ganglioside in fibroblasts from a patient with juvenile Niemann–Pick disease type C von Watanabe, Yasuhiro, Akaboshi, Shinjiro, Ishida, Gen, Takeshima, Takao, Yano, Tamami, Taniguchi, Miyako, Ohno, Kousaku, Nakashima, Kenji

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Nationwide survey (incidence, clinical course, prognosis) of Rasmussen' s encephalitis von Muto, Ayako, Oguni, Hirokazu, Takahashi, Yukitoshi, Shirasaka, Yukiyoshi, Sawaishi, Yukio, Yano, Tamami, Hoshida, Toru, Osaka, Hitoshi, Nakasu, Satoru, Akasaka, Noriyuki, Sugai, Kenji, Miyamoto, Akie, Takahashi, Satoru, Suzuki, Motomasa, Ohmori, Iori, Nabatame, Shin, Osawa, Makiko

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