Administration of nusinersen via paramedian approach for spinal muscular atrophy von Iwayama, Hideyuki, Wakao, Norimitsu, Kurahashi, Hirokazu, Kubota, Norika, Hattori, Ayako, Kumagai, Toshiyuki, Okumura, Akihisa

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Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction von Fujimoto, Masanori, Nakamura, Yuji, Iwaki, Toshihiko, Sato, Emi, Ieda, Daisuke, Hattori, Ayako, Shiraki, Anna, Mizuno, Seiji, Saitoh, Shinji

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Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant von Yamamoto, Kosuke, Ohashi, Kei, Fujimoto, Masanori, Ieda, Daisuke, Nakamura, Yuji, Hattori, Ayako, Kaname, Tadashi, Ieda, Kuniko, Nishino, Ichizo, Saitoh, Shinji

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Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement von Hori, Ikumi, Otomo, Takanobu, Nakashima, Mitsuko, Miya, Fuyuki, Negishi, Yutaka, Shiraishi, Hideaki, Nonoda, Yutaka, Magara, Shinichi, Tohyama, Jun, Okamoto, Nobuhiko, Kumagai, Takeshi, Shimoda, Konomi, Yukitake, Yoshiya, Kajikawa, Daigo, Morio, Tomohiro, Hattori, Ayako, Nakagawa, Motoo, Ando, Naoki, Nishino, Ichizo, Kato, Mitsuhiro, Tsunoda, Tatsuhiko, Saitsu, Hirotomo, Kanemura, Yonehiro, Yamasaki, Mami, Kosaki, Kenjiro, Matsumoto, Naomichi, Yoshimori, Tamotsu, Saitoh, Shinji

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Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood von Kato, Kohji, Mizuno, Seiji, Inaba, Mie, Fukumura, Shinobu, Kurahashi, Naoko, Maruyama, Koichi, Ieda, Daisuke, Ohashi, Kei, Hori, Ikumi, Negishi, Yutaka, Hattori, Ayako, Saitoh, Shinji

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Lenticular nuclei to thalamic ratio on PET is useful for diagnosis of GLUT1 deficiency syndrome von Natsume, Jun, Ishihara, Naoko, Azuma, Yoshiteru, Nakata, Tomohiko, Takeuchi, Tomoya, Tanaka, Masaharu, Sakaguchi, Yoko, Okai, Yu, Ito, Yuji, Yamamoto, Hiroyuki, Ohno, Atsuko, Kidokoro, Hiroyuki, Hattori, Ayako, Nabatame, Shin, Kato, Katsuhiko

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A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate von Kato, Koji, Miya, Fuyuki, Hori, Ikumi, Ieda, Daisuke, Ohashi, Kei, Negishi, Yutaka, Hattori, Ayako, Okamoto, Nobuhiko, Kato, Mitsuhiro, Tsunoda, Tatsuhiko, Yamasaki, Mami, Kanemura, Yonehiro, Kosaki, Kenjiro, Saitoh, Shinji

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Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant von Hori, Ikumi, Ieda, Daisuke, Ito, Shogo, Ebe, Seimi, Nakamura, Yuji, Ohashi, Kei, Aoyama, Kohei, Hattori, Ayako, Kokubo, Minoru, Saitoh, Shinji

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De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences von Hiraide, Takuya, Hattori, Ayako, Ieda, Daisuke, Hori, Ikumi, Saitoh, Shinji, Nakashima, Mitsuko, Saitsu, Hirotomo

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A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome von Hori, Ikumi, Miya, Fuyuki, Negishi, Yutaka, Hattori, Ayako, Ando, Naoki, Boroevich, Keith A, Okamoto, Nobuhiko, Kato, Mitsuhiro, Tsunoda, Tatsuhiko, Yamasaki, Mami, Kanemura, Yonehiro, Kosaki, Kenjiro, Saitoh, Shinji

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Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KIF1A von Isobe, Kouji, Ieda, Daisuke, Miya, Fuyuki, Miyachi, Rieko, Otsuji, Shiomi, Asai, Masami, Tsunoda, Tatsuhiko, Kosaki, Kenjiro, Hattori, Ayako, Saitoh, Shinji, Mizuno, Mihoko

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Transition from Leigh syndrome to MELAS syndrome in a patient with heteroplasmic MT-ND3 m.10158T>C von Kori, Atsuko, Hori, Ikumi, Tanaka, Tatsushi, Aoyama, Kohei, Ito, Koichi, Hattori, Ayako, Ban, Kyoko, Okazaki, Yasushi, Murayama, Kei, Saitoh, Shinji

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Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome von Negishi, Yutaka, Hattori, Ayako, Takeshita, Eri, Sakai, Chika, Ando, Naoki, Ito, Tetsuya, Goto, Yu-ichi, Saitoh, Shinji

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Role of a heterotrimeric G‐protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability von Hamada, Nanako, Negishi, Yutaka, Mizuno, Makoto, Miya, Fuyuki, Hattori, Ayako, Okamoto, Nobuhiko, Kato, Mitsuhiro, Tsunoda, Tatsuhiko, Yamasaki, Mami, Kanemura, Yonehiro, Kosaki, Kenjiro, Tabata, Hidenori, Saitoh, Shinji, Nagata, Koh‐ichi

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A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia von Ieda, Daisuke, Hori, Ikumi, Nakamura, Yuji, Ohshita, Hironori, Negishi, Yutaka, Shinohara, Tsutomu, Hattori, Ayako, Kato, Takenori, Inukai, Sachiko, Kitamura, Katsumasa, Kawai, Tomoki, Ohara, Osamu, Kunishima, Shinji, Saitoh, Shinji

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Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum von Nakamura, Yuji, Togawa, Yasuko, Okuno, Yusuke, Muramatsu, Hideki, Nakabayashi, Kazuhiko, Kuroki, Yoko, Ieda, Daisuke, Hori, Ikumi, Negishi, Yutaka, Togawa, Takao, Hattori, Ayako, Kojima, Seiji, Saitoh, Shinji

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A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever von Nakamura, Yuji, Hattori, Ayako, Nakashima, Mitsuko, Ieda, Daisuke, Hori, Ikumi, Negishi, Yutaka, Ando, Naoki, Matsumoto, Naomichi, Saitoh, Shinji

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Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome von Hori, Ikumi, Miya, Fuyuki, Ohashi, Kei, Negishi, Yutaka, Hattori, Ayako, Ando, Naoki, Okamoto, Nobuhiko, Kato, Mitsuhiro, Tsunoda, Tatsuhiko, Yamasaki, Mami, Kanemura, Yonehiro, Kosaki, Kenjiro, Saitoh, Shinji

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Genotype-phenotype correlation over time in Angelman syndrome: Researching 134 patients von Fujimoto, Masanori, Nakamura, Yuji, Hosoki, Kana, Iwaki, Toshihiko, Sato, Emi, Ieda, Daisuke, Hori, Ikumi, Negishi, Yutaka, Hattori, Ayako, Shiraishi, Hideaki, Saitoh, Shinji

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Cytotoxic edema at onset in West syndrome of unknown etiology: A longitudinal diffusion tensor imaging study von Ogawa, Chikako, Kidokoro, Hiroyuki, Fukasawa, Tatsuya, Yamamoto, Hiroyuki, Ishihara, Naoko, Ito, Yuji, Sakaguchi, Yoko, Okai, Yu, Ohno, Atsuko, Nakata, Tomohiko, Azuma, Yoshiteru, Hattori, Ayako, Kubota, Tetsuo, Tsuji, Takeshi, Hirakawa, Akihiro, Kawai, Hisashi, Natsume, Jun

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