Search Results - "Momma, Kazunari"

Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies by Momma, Kazunari, Noguchi, Satoru, Malicdan, May Christine V, Hayashi, Yukiko K, Minami, Narihiro, Kamakura, Keiko, Nonaka, Ikuya, Nishino, Ichizo

“…Rimmed vacuoles in myofibers are thought to be due to the accumulation of autophagic vacuoles, and can be characteristic in certain myopathies with protein…”
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Clinical efficacy of haematopoietic stem cell transplantation for adult adrenoleukodystrophy by Matsukawa, Takashi, Yamamoto, Tomotaka, Honda, Akira, Toya, Takashi, Ishiura, Hiroyuki, Mitsui, Jun, Tanaka, Masaki, Hao, Akihito, Shinohara, Akihito, Ogura, Mizuki, Kataoka, Keisuke, Seo, Sachiko, Kumano, Keiki, Hosoi, Masataka, Narukawa, Kensuke, Yasunaga, Megumi, Maki, Hiroaki, Ichikawa, Motoshi, Nannya, Yasuhito, Imai, Yoichi, Takahashi, Tsuyoshi, Takahashi, Yuji, Nagasako, Yuki, Yasaka, Kyoko, Mano, Kagari Koshi, Matsukawa, Miho Kawabe, Miyagawa, Toji, Hamada, Masashi, Sakuishi, Kaori, Hayashi, Toshihiro, Iwata, Atsushi, Terao, Yasuo, Shimizu, Jun, Goto, Jun, Mori, Harushi, Kunimatsu, Akira, Aoki, Shigeki, Hayashi, Shin, Nakamura, Fumihiko, Arai, Syunya, Momma, Kazunari, Ogata, Katsuhisa, Yoshida, Toshikazu, Abe, Osamu, Inazawa, Johji, Toda, Tatsushi, Kurokawa, Mineo, Tsuji, Shoji

“…Abstract Accumulated experience supports the efficacy of allogenic haematopoietic stem cell transplantation in arresting the progression of childhood-onset…”
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A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties by Kadoya, Masato, Ogata, Katsuhisa, Suzuki, Mikiya, Honma, Yutaka, Momma, Kazunari, Yatabe, Kana, Tamura, Takuhisa, Kaida, Kenichi, Miyata, Naomasa, Nishino, Ichizo, Nonaka, Ikuya, Kawai, Mitsuru

“…Highlights • We identified a novel homozygous mutation of c.2394dupA (p.Arg799fs) in ANO5 gene. • There are LGMD2L patients even of non-European ancestry,…”
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Identification of biomarkers for GNE myopathy by Malicdan, May Christine, Momma, Kazunari, Nishino, Ichizo, Noguchi, Satoru

“…Abstract only GNE‐myopathy is an autosomal recessive disorder characterized by muscle atrophy and weakness, and accumulation of amyloid proteins and rimmed…”
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A new mutation in the GCH1 gene presents as early-onset Parkinsonism by Momma, Kazunari, Funayama, Manabu, Li, Yuanzhe, Ichinose, Hiroshi, Motoyoshi, Kazuo, Hattori, Nobutaka, Mizuno, Yoshikuni, Kamakura, Keiko

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A new mutation in the GCH1 gene presents as early-onset Parkinsonism by Momma, Kazunari, Funayama, Manabu, Li, Yuanzhe, Ichinose, Hiroshi, Motoyoshi, Kazuo, Hattori, Nobutaka, Mizuno, Yoshikuni, Kamakura, Keiko

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