Mutations in the J domain of DNAJB6 cause dominant distal myopathy
Palmio, Johanna, Jonson, Per Harald, Inoue, Michio, Sarparanta, Jaakko, Bengoechea, Rocio, Savarese, Marco, Vihola, Anna, Jokela, Manu, Nakagawa, Masanori, Noguchi, Satoru, Olivé, Montse, Masingue, Marion, Kerty, Emilia, Hackman, Peter, Weihl, Conrad C., Nishino, Ichizo, Udd, Bjarne
Published in Neuromuscular disorders : NMD (01.01.2020)
Published in Neuromuscular disorders : NMD (01.01.2020)
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Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing
Hiramuki, Yosuke, Kure, Yuriko, Saito, Yoshihiko, Ogawa, Megumu, Ishikawa, Keiko, Mori-Yoshimura, Madoka, Oya, Yasushi, Takahashi, Yuji, Kim, Dae-Seong, Arai, Noriko, Mori, Chiaki, Matsumura, Tsuyoshi, Hamano, Tadanori, Nakamura, Kenichiro, Ikezoe, Koji, Hayashi, Shinichiro, Goto, Yuichi, Noguchi, Satoru, Nishino, Ichizo
Published in Journal of translational medicine (08.11.2022)
Published in Journal of translational medicine (08.11.2022)
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Journal Article
Autophagic degradation of nuclear components in mammalian cells
Park, Young-Eun, Hayashi, Yukiko K., Bonne, Gisèle, Arimura, Takuro, Noguchi, Satoru, Nonaka, Ikuya, Nishino, Ichizo
Published in Autophagy (16.08.2009)
Published in Autophagy (16.08.2009)
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Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy
Ogasawara, Masashi, Eura, Nobuyuki, Iida, Aritoshi, Kumutpongpanich, Theerawat, Minami, Narihiro, Nonaka, Ikuya, Hayashi, Shinichiro, Noguchi, Satoru, Nishino, Ichizo
Published in Acta neuropathologica communications (07.12.2022)
Published in Acta neuropathologica communications (07.12.2022)
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Journal Article
Small-Vessel Vasculopathy Due to Aberrant Autophagy in LAMP-2 Deficiency
Nguyen, Huan T., Noguchi, Satoru, Sugie, Kazuma, Matsuo, Yoshiyuki, Nguyen, Chuyen T. H., Koito, Hitoshi, Shiojima, Ichiro, Nishino, Ichizo, Tsukaguchi, Hiroyasu
Published in Scientific reports (20.02.2018)
Published in Scientific reports (20.02.2018)
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Journal Article
Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro
Fujita, Misato, Mitsuhashi, Hiroaki, Isogai, Sumio, Nakata, Takahiro, Kawakami, Atsushi, Nonaka, Ikuya, Noguchi, Satoru, Hayashi, Yukiko K., Nishino, Ichizo, Kudo, Akira
Published in Developmental biology (01.01.2012)
Published in Developmental biology (01.01.2012)
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Journal Article
Lysosomal myopathies: An excessive build-up in autophagosomes is too much to handle
Malicdan, May Christine, Noguchi, Satoru, Nonaka, Ikuya, Saftig, Paul, Nishino, Ichizo
Published in Neuromuscular disorders : NMD (01.07.2008)
Published in Neuromuscular disorders : NMD (01.07.2008)
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Journal Article
Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy
Mitsuhashi, Satomi, Hatakeyama, Hideyuki, Karahashi, Minako, Koumura, Tomoko, Nonaka, Ikuya, Hayashi, Yukiko K., Noguchi, Satoru, Sher, Roger B., Nakagawa, Yasuhito, Manfredi, Giovanni, Goto, Yu-ichi, Cox, Gregory A., Nishino, Ichizo
Published in Human molecular genetics (01.10.2011)
Published in Human molecular genetics (01.10.2011)
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Journal Article
Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5′UTR and founder allele
Zhu, Wenhua, Mitsuhashi, Satomi, Yonekawa, Takahiro, Noguchi, Satoru, Huei, Josiah Chai Yui, Nalini, Atchayaram, Preethish-Kumar, Veeramani, Yamamoto, Masayoshi, Murakata, Kenji, Mori-Yoshimura, Madoka, Kamada, Sachiko, Yahikozawa, Hiroyuki, Karasawa, Masato, Kimura, Seigo, Yamashita, Fumitada, Nishino, Ichizo
Published in Journal of human genetics (01.02.2017)
Published in Journal of human genetics (01.02.2017)
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Journal Article
246th ENMC International Workshop: Protein aggregate myopathies 24–26 May 2019, Hoofddorp, The Netherlands
Olivé, Montse, Winter, Lilli, Fürst, Dieter O., Schröder, Rolf, Behin, Anthony, Breukel, Alexandra, Brumhard, Matthias, Bryson-Richardson, Robert, Claeys, Kristl, Ferreiro, Ana, Fürst, Dieter, Goebel, Hans H., Gupta, Vandana, Kley, Rudolf, Mankodi, Ami, Noguchi, Satoru, Oldfors, Anders, Olivé, Montse, Schröder, Rolf, Selcen, Duygu, Timmerman, Vincent, Udd, Bjarne, Walter, Maggie, Weihl, Conrad, Wiche, Gerhard, Winter, Lilly
Published in Neuromuscular disorders : NMD (01.02.2021)
Published in Neuromuscular disorders : NMD (01.02.2021)
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Conference Proceeding
Branchpoints as potential targets of exon-skipping therapies for genetic disorders
Ohara, Hiroaki, Hosokawa, Motoyasu, Awaya, Tomonari, Hagiwara, Atsuko, Kurosawa, Ryo, Sako, Yukiya, Ogawa, Megumu, Ogasawara, Masashi, Noguchi, Satoru, Goto, Yuichi, Takahashi, Ryosuke, Nishino, Ichizo, Hagiwara, Masatoshi
Published in Molecular therapy. Nucleic acids (12.09.2023)
Published in Molecular therapy. Nucleic acids (12.09.2023)
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215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13–15 November 2015, Heemskerk, The Netherlands
Evangelista, Teresinha, Weihl, Conrad C., Kimonis, Virginia, Lochmüller, Hanns, Clemen, Christoph, Deshaies, Ray, Evangelista, Teresinha, Eymard, Bruno, Greensmith, Linda, Hilton-Jones, David, Kimonis, Virginia, Kley, Rudy, Lochmüller, Hanns, Meyer, Hemmo, Mozaffar, Tahseen, Noguchi, Satoru, Ralston, Stuart, Ridha, Basil, Udd, Bjarne, Weihl, Conrad, Brumhard, Matthias, Brumhard, Sarah
Published in Neuromuscular disorders : NMD (01.08.2016)
Published in Neuromuscular disorders : NMD (01.08.2016)
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Collagen-VI supplementation by cell transplantation improves muscle regeneration in Ullrich congenital muscular dystrophy model mice
Takenaka-Ninagawa, Nana, Kim, Jinsol, Zhao, Mingming, Sato, Masae, Jonouchi, Tatsuya, Goto, Megumi, Yoshioka, Clémence Kiho Bourgeois, Ikeda, Rukia, Harada, Aya, Sato, Takahiko, Ikeya, Makoto, Uezumi, Akiyoshi, Nakatani, Masashi, Noguchi, Satoru, Sakurai, Hidetoshi
Published in Stem cell research & therapy (09.08.2021)
Published in Stem cell research & therapy (09.08.2021)
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Long-term evaluation parameters in GNE myopathy: a 5-year observational follow-up natural history study
Mori-Yoshimura, Madoka, Yajima, Hiroyuki, Oya, Yasushi, Mizuno, Katsuhiro, Noguchi, Satoru, Nishino, Ichizo, Takahashi, Yuji
Published in BMJ neurology open (01.12.2022)
Published in BMJ neurology open (01.12.2022)
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Journal Article
Peracetylated N-Acetylmannosamine, a Synthetic Sugar Molecule, Efficiently Rescues Muscle Phenotype and Biochemical Defects in Mouse Model of Sialic Acid-deficient Myopathy
Malicdan, May Christine V., Noguchi, Satoru, Tokutomi, Tomoharu, Goto, Yu-ichi, Nonaka, Ikuya, Hayashi, Yukiko K., Nishino, Ichizo
Published in The Journal of biological chemistry (20.01.2012)
Published in The Journal of biological chemistry (20.01.2012)
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Journal Article
Valence-band structure of organic radical p-CF3PNN investigated by angle-resolved photoemission spectroscopy
Anzai, Hiroaki, Takakura, Ryosuke, Ono, Yusuke, Ishihara, Suzuna, Sato, Hitoshi, Namatame, Hirofumi, Taniguchi, Masaki, Matsui, Toshiyuki, Noguchi, Satoru, Hosokoshi, Yuko
Published in Physica. B, Condensed matter (01.05.2018)
Published in Physica. B, Condensed matter (01.05.2018)
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Journal Article
GNE myopathy: A prospective natural history study of disease progression
Mori-Yoshimura, Madoka, Oya, Yasushi, Yajima, Hiroyuki, Yonemoto, Naohiro, Kobayashi, Yoko, Hayashi, Yukiko K, Noguchi, Satoru, Nishino, Ichizo, Murata, Miho
Published in Neuromuscular disorders : NMD (01.05.2014)
Published in Neuromuscular disorders : NMD (01.05.2014)
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Systemic Supplementation of Collagen VI by Neonatal Transplantation of iPSC-Derived MSCs Improves Histological Phenotype and Function of Col6-Deficient Model Mice
Harada, Aya, Goto, Megumi, Kato, Atsuya, Takenaka-Ninagawa, Nana, Tanaka, Akito, Noguchi, Satoru, Ikeya, Makoto, Sakurai, Hidetoshi
Published in Frontiers in cell and developmental biology (23.11.2021)
Published in Frontiers in cell and developmental biology (23.11.2021)
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Journal Article
Muscle‐specific calpain‐3 is phosphorylated in its unique insertion region for enrichment in a myofibril fraction
Ojima, Koichi, Ono, Yasuko, Hata, Shoji, Noguchi, Satoru, Nishino, Ichizo, Sorimachi, Hiroyuki
Published in Genes to cells : devoted to molecular & cellular mechanisms (01.11.2014)
Published in Genes to cells : devoted to molecular & cellular mechanisms (01.11.2014)
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