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41.
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Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene. [electronic resource] by
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- Takashima, Hiroshi
- Higuchi, Itsuro
- Matsuyama, Wataru
- Suehara, Masahito
- Nishihira, Yasushi
- Hashiguchi, Akihiro
- Hirano, Ryuki
- Ng, Arlene R
- Nakagawa, Masanori
- Izumo, Shuji
- Osame, Mitsuhiro
- Arimura, Kimiyoshi
Producer: 20070112
In:
Neurogenetics vol. 7
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42.
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MRI studies of spinal visceral larva migrans syndrome. [electronic resource] by
- Umehara, Fujio
- Ookatsu, Hideki
- Hayashi, Daisuke
- Uchida, Akifumi
- Douchi, Yukari
- Kawabata, Hisashi
- Goto, Rina
- Hashiguchi, Akihiro
- Matsuura, Eiji
- Okubo, Ryuichi
- Higuchi, Itsuro
- Arimura, Kimiyoshi
- Nawa, Yukifumi
- Osame, Mitsuhiro
Producer: 20070125
In:
Journal of the neurological sciences vol. 249
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43.
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Clinical diversity caused by novel IGHMBP2 variants. [electronic resource] by
- Yuan, Jun-Hui
- Hashiguchi, Akihiro
- Yoshimura, Akiko
- Yaguchi, Hiroshi
- Tsuzaki, Koji
- Ikeda, Azusa
- Wada-Isoe, Kenji
- Ando, Masahiro
- Nakamura, Tomonori
- Higuchi, Yujiro
- Hiramatsu, Yu
- Okamoto, Yuji
- Takashima, Hiroshi
Producer: 20180118
In:
Journal of human genetics vol. 62
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44.
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A mild case of giant axonal neuropathy without central nervous system manifestation. [electronic resource] by
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- Saito, Takashi
- Ishiyama, Akihiko
- Komaki, Hirofumi
- Yuasa, Shota
- Saito, Yoshiaki
- Nakagawa, Eiji
- Sugai, Kenji
- Shiihara, Takashi
- Shioya, Ayako
- Saito, Yuko
- Higuchi, Yujiro
- Hashiguchi, Akihiro
- Takashima, Hiroshi
- Sasaki, Masayuki
Producer: 20161213
In:
Brain & development vol. 38
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45.
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(Pro)renin receptor accelerates development of sarcopenia via activation of Wnt/YAP signaling axis. [electronic resource] by
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- Endo, Jin
- Kinouchi, Kenichiro
- Kitakata, Hiroki
- Moriyama, Hidenori
- Kataoka, Masaharu
- Yamamoto, Tsunehisa
- Shirakawa, Kohsuke
- Morimoto, Satoshi
- Nishiyama, Akira
- Hashiguchi, Akihiro
- Higuchi, Itsuro
- Fukuda, Keiichi
- Ichihara, Atsuhiro
- Sano, Motoaki
Producer: 20200922
In:
Aging cell vol. 18
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46.
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Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2. [electronic resource] by
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- Hashiguchi, Akihiro
- Okamoto, Yuji
- Yoshimura, Akiko
- Ando, Masahiro
- Shiomi, Kazutaka
- Saito, Kayoko
- Takahashi, Makoto
- Ichinose, Keiko
- Ohmichi, Takuma
- Ichikawa, Kazushi
- Tadashi, Adachi
- Takigawa, Hiroshi
- Shibayama, Hidehiro
- Takashima, Hiroshi
Producer: 20180827
In:
Journal of human genetics vol. 63
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47.
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Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study. [electronic resource] by
- Ando, Masahiro
- Hashiguchi, Akihiro
- Okamoto, Yuji
- Yoshimura, Akiko
- Hiramatsu, Yu
- Yuan, Junhui
- Higuchi, Yujiro
- Mitsui, Jun
- Ishiura, Hiroyuki
- Umemura, Ayako
- Maruyama, Koichi
- Matsushige, Takeshi
- Morishita, Shinichi
- Nakagawa, Masanori
- Tsuji, Shoji
- Takashima, Hiroshi
Producer: 20180508
In:
Journal of the peripheral nervous system : JPNS vol. 22
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48.
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Clinical features of inherited neuropathy with BSCL2 mutations in Japan. [electronic resource] by
- Ishihara, Satoshi
- Okamoto, Yuji
- Tanabe, Hajime
- Yoshimura, Akiko
- Higuchi, Yujiro
- Yuan, Jun-Hui
- Hashiguchi, Akihiro
- Ishiura, Hiroyuki
- Mitsui, Jun
- Suwazono, Shugo
- Oya, Yasushi
- Sasaki, Masayuki
- Nakagawa, Masanori
- Tsuji, Shoji
- Ohya, Yusuke
- Takashima, Hiroshi
Producer: 20210601
In:
Journal of the peripheral nervous system : JPNS vol. 25
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49.
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MFN2 transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2. [electronic resource] by
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- Yamasaki, Kanto
- Mori, Atsuko
- Takamatsu, Naoko
- Osaki, Yusuke
- Banzrai, Chimeglkham
- Miyamoto, Ryosuke
- Oki, Ryosuke
- Pedace, Lucia
- Orlacchio, Antonio
- Nodera, Hiroyuki
- Hashiguchi, Akihiro
- Higuchi, Yujiro
- Takashima, Hiroshi
- Nishida, Yoshihiko
- Izumi, Yuishin
- Kaji, Ryuji
Producer: 20180312
In:
Journal of neurology, neurosurgery, and psychiatry vol. 87
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50.
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Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation. [electronic resource] by
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- Mori, Akira
- Nishida, Yasuto
- Kurisaki, Ryoichi
- Tawara, Nozomu
- Nishikami, Tomo
- Misumi, Yohei
- Ueyama, Hidetsugu
- Imamura, Shigehiro
- Higuchi, Yujiro
- Hashiguchi, Akihiro
- Higuchi, Itsuro
- Morishita, Shinichi
- Yoshimura, Jun
- Uchino, Makoto
- Takashima, Hiroshi
- Tsuji, Shoji
- Ando, Yukio
Producer: 20151120
In:
Neuropathology and applied neurobiology vol. 41
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51.
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Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan. [electronic resource] by
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- Higuchi, Yujiro
- Yuan, Jun-Hui
- Hashiguchi, Akihiro
- Yoshimura, Akiko
- Ishihara, Satoshi
- Nozuma, Satoshi
- Okamoto, Yuji
- Matsuura, Eiji
- Ishiura, Hiroyuki
- Mitsui, Jun
- Takashima, Ryotaro
- Kokubun, Norito
- Maeda, Kengo
- Asano, Yuri
- Sunami, Yoko
- Kono, Yu
- Ishigaki, Yasunori
- Yanamoto, Shosaburo
- Fukae, Jiro
- Kida, Hiroshi
- Morita, Mitsuya
- Tsuji, Shoji
- Takashima, Hiroshi
Producer: 20191106
In:
Journal of the peripheral nervous system : JPNS vol. 23
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The updated retrospective questionnaire study of sporadic inclusion body myositis in Japan. [electronic resource] by
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- Mori-Yoshimura, Madoka
- Yamashita, Satoshi
- Nakano, Satoshi
- Murata, Ken-Ya
- Mori, Megumi
- Inamori, Yukie
- Matsui, Naoko
- Kimura, En
- Kusaka, Hirofumi
- Kondo, Tomoyoshi
- Ito, Hidefumi
- Higuchi, Itsuro
- Hashiguchi, Akihiro
- Nodera, Hiroyuki
- Kaji, Ryuji
- Tateyama, Maki
- Izumi, Rumiko
- Ono, Hiroya
- Kato, Masaaki
- Warita, Hitoshi
- Takahashi, Toshiaki
- Nishino, Ichizo
- Aoki, Masashi
Producer: 20200330
In:
Orphanet journal of rare diseases vol. 14
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53.
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Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. [electronic resource] by
- Higuchi, Yujiro
- Okunushi, Ryuta
- Hara, Taichi
- Hashiguchi, Akihiro
- Yuan, Junhui
- Yoshimura, Akiko
- Murayama, Kei
- Ohtake, Akira
- Ando, Masahiro
- Hiramatsu, Yu
- Ishihara, Satoshi
- Tanabe, Hajime
- Okamoto, Yuji
- Matsuura, Eiji
- Ueda, Takehiro
- Toda, Tatsushi
- Yamashita, Sumimasa
- Yamada, Kenichiro
- Koide, Takashi
- Yaguchi, Hiroaki
- Mitsui, Jun
- Ishiura, Hiroyuki
- Yoshimura, Jun
- Doi, Koichiro
- Morishita, Shinichi
- Sato, Ken
- Nakagawa, Masanori
- Yamaguchi, Masamitsu
- Tsuji, Shoji
- Takashima, Hiroshi
Producer: 20190708
In:
Brain : a journal of neurology vol. 141
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54.
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New type of encephalomyelitis responsive to trimethoprim/sulfamethoxazole treatment in Japan. [electronic resource] by
- Sakiyama, Yusuke
- Kanda, Naoaki
- Higuchi, Yujiro
- Yoshimura, Michiyoshi
- Wakaguri, Hiroyuki
- Takata, Yoshiharu
- Watanabe, Osamu
- Yuan, Junhui
- Tashiro, Yuichi
- Saigo, Ryuji
- Nozuma, Satoshi
- Yoshimura, Akiko
- Arishima, Shiho
- Ikeda, Kenichi
- Shinohara, Kazuya
- Arata, Hitoshi
- Michizono, Kumiko
- Higashi, Keiko
- Hashiguchi, Akihiro
- Okamoto, Yuji
- Hirano, Ryuki
- Shiraishi, Tadafumi
- Matsuura, Eiji
- Okubo, Ryuichi
- Higuchi, Itsuro
- Goto, Masamichi
- Hirano, Hirofumi
- Sano, Akira
- Iwasaki, Takuya
- Matsuda, Fumihiko
- Izumo, Shuji
- Takashima, Hiroshi
Producer: 20150828
In:
Neurology(R) neuroimmunology & neuroinflammation vol. 2
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55.
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Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. [electronic resource] by
- Sone, Jun
- Mori, Keiko
- Inagaki, Tomonori
- Katsumata, Ryu
- Takagi, Shinnosuke
- Yokoi, Satoshi
- Araki, Kunihiko
- Kato, Toshiyasu
- Nakamura, Tomohiko
- Koike, Haruki
- Takashima, Hiroshi
- Hashiguchi, Akihiro
- Kohno, Yutaka
- Kurashige, Takashi
- Kuriyama, Masaru
- Takiyama, Yoshihisa
- Tsuchiya, Mai
- Kitagawa, Naoyuki
- Kawamoto, Michi
- Yoshimura, Hajime
- Suto, Yutaka
- Nakayasu, Hiroyuki
- Uehara, Naoko
- Sugiyama, Hiroshi
- Takahashi, Makoto
- Kokubun, Norito
- Konno, Takuya
- Katsuno, Masahisa
- Tanaka, Fumiaki
- Iwasaki, Yasushi
- Yoshida, Mari
- Sobue, Gen
Producer: 20170510
In:
Brain : a journal of neurology vol. 139
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56.
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Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2. [electronic resource] by
- Higuchi, Yujiro
- Hashiguchi, Akihiro
- Yuan, Junhui
- Yoshimura, Akiko
- Mitsui, Jun
- Ishiura, Hiroyuki
- Tanaka, Masaki
- Ishihara, Satoshi
- Tanabe, Hajime
- Nozuma, Satoshi
- Okamoto, Yuji
- Matsuura, Eiji
- Ohkubo, Ryuichi
- Inamizu, Saeko
- Shiraishi, Wataru
- Yamasaki, Ryo
- Ohyagi, Yasumasa
- Kira, Jun-ichi
- Oya, Yasushi
- Yabe, Hayato
- Nishikawa, Noriko
- Tobisawa, Shinsuke
- Matsuda, Nozomu
- Masuda, Masayuki
- Kugimoto, Chiharu
- Fukushima, Kazuhiro
- Yano, Satoshi
- Yoshimura, Jun
- Doi, Koichiro
- Nakagawa, Masanori
- Morishita, Shinichi
- Tsuji, Shoji
- Takashima, Hiroshi
Producer: 20160906
In:
Annals of neurology vol. 79
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57.
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Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. [electronic resource] by
- Sone, Jun
- Mitsuhashi, Satomi
- Fujita, Atsushi
- Mizuguchi, Takeshi
- Hamanaka, Kohei
- Mori, Keiko
- Koike, Haruki
- Hashiguchi, Akihiro
- Takashima, Hiroshi
- Sugiyama, Hiroshi
- Kohno, Yutaka
- Takiyama, Yoshihisa
- Maeda, Kengo
- Doi, Hiroshi
- Koyano, Shigeru
- Takeuchi, Hideyuki
- Kawamoto, Michi
- Kohara, Nobuo
- Ando, Tetsuo
- Ieda, Toshiaki
- Kita, Yasushi
- Kokubun, Norito
- Tsuboi, Yoshio
- Katoh, Kazutaka
- Kino, Yoshihiro
- Katsuno, Masahisa
- Iwasaki, Yasushi
- Yoshida, Mari
- Tanaka, Fumiaki
- Suzuki, Ikuo K
- Frith, Martin C
- Matsumoto, Naomichi
- Sobue, Gen
Producer: 20200128
In:
Nature genetics vol. 51
Availability: No items available.
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