Published Papers & Misc - MITSUHASHI Satomi

Division display  81 - 100 of about 114 ／  All the affair displays >>

  1. Miyake N, Fukai R, Ohba C, Chihara T, Miura M, Shimizu H, Kakita A, Imagawa E, Shiina M, Ogata K, Okuno-Yuguchi J, Fueki N, Ogiso Y, Suzumura H, Watabe Y, Imataka G, Leong HY, Fattal-Valevski A, Kramer U, Miyatake S, Kato M, Okamoto N, Sato Y, Mitsuhashi S, Nishino I, Kaneko N, Nishiyama A, Tamura T, Mizuguchi T, Nakashima M, Tanaka F, Saitsu H, Matsumoto N. Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy. American journal of human genetics. 2016.10; 99 (4): 950-961. ( PubMed, DOI )

  2. Reddy HM, Hamed SA, Lek M, Mitsuhashi S, Estrella E, Jones MD, Mahoney LJ, Duncan AR, Cho KA, Macarthur DG, Kunkel LM, Kang PB. Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt. Muscle & nerve. 2016.10; 54 (4): 690-5. ( PubMed, DOI )

  3. Termglinchan T, Hisamatsu S, Ohmori J, Suzumura H, Sumitomo N, Imataka G, Arisaka O, Murakami N, Minami N, Akihiko I, Sasaki M, Goto Y, Noguchi S, Nonaka I, Mitsuhashi S, Nishino I. Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome. Neurology. Genetics. 2016.10; 2 (5): e95. ( PubMed, DOI )

  4. Takayama K, Mitsuhashi S, Shin JY, Tanaka R, Fujii T, Tsuburaya R, Mukaida S, Noguchi S, Nonaka I, Nishino I. Japanese multiple epidermal growth factor 10 (MEGF10) myopathy with novel mutations: A phenotype-genotype correlation. Neuromuscular disorders : NMD. 2016.09; 26 (9): 604-9. ( PubMed, DOI )

  5. Hamanaka K, Goto K, Arai M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Mitsuhashi S, Nishino I. Corrigendum to "Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations": [Neuromuscular Disorders 26/4-5 (2016) 300-308]. Neuromuscular disorders : NMD. 2016.07; 26 (7): 472. ( PubMed, DOI )

  6. Okubo M, Minami N, Goto K, Goto Y, Noguchi S, Mitsuhashi S, Nishino I. Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. Journal of human genetics. 2016.06; 61 (6): 483-9. ( PubMed, DOI )

  7. van den Boogaard ML, Lemmers RJLF, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RFP, Kriek M, Laurense-Bik MEY, Raz V, van Ostaijen-Ten Dam MM, Hansson KBM, van der Kooi EL, Kiuru-Enari S, Udd B, van Tol MJD, Nishino I, Tawil R, Tapscott SJ, van Engelen BGM, van der Maarel SM. Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy. American journal of human genetics. 2016.05; 98 (5): 1020-1029. ( PubMed, DOI )

  8. Hamanaka K, Goto K, Arai M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Mitsuhashi S, Nishino I. Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations. Neuromuscular disorders : NMD. 2016.04; 26 (4-5): 300-8. ( PubMed, DOI )

  9. Hamanaka K, Inami I, Wada T, Mitsuhashi S, Noguchi S, Hayashi YK, Nishino I. Muscle from a 20-week-old myotubular myopathy fetus is not myotubular. Neuromuscular disorders : NMD. 2016.03; 26 (3): 234-5. ( PubMed, DOI )

  10. Ando H, Aoyama C, Horibata Y, Satou M, Mitsuhashi S, Itoh M, Hosaka K, Sugimoto H. Transcriptional suppression of CTP:phosphoethanolamine cytidylyltransferase by 25-hydroxycholesterol is mediated by nuclear factor-Y and Yin Yang 1. The Biochemical journal. 2015.11; 471 (3): 369-79. ( PubMed, DOI )

  11. Zhao Y, Ogawa H, Yonekura S, Mitsuhashi H, Mitsuhashi S, Nishino I, Toyoshima C, Ishiura S. Functional analysis of SERCA1b, a highly expressed SERCA1 variant in myotonic dystrophy type 1 muscle. Biochimica et biophysica acta. 2015.10; 1852 (10 Pt A): 2042-7. ( PubMed, DOI )

  12. Izumi R, Warita H, Niihori T, Takahashi T, Tateyama M, Suzuki N, Nishiyama A, Shirota M, Funayama R, Nakayama K, Mitsuhashi S, Nishino I, Aoki Y, Aoki M. Isolated inclusion body myopathy caused by a multisystem proteinopathy-linked hnRNPA1 mutation. Neurology. Genetics. 2015.10; 1 (3): e23. ( PubMed, DOI )

  13. Uruha A, Noguchi S, Sato W, Nishimura H, Mitsuhashi S, Yamamura T, Nishino I. Plasma IP-10 level distinguishes inflammatory myopathy. Neurology. 2015.07; 85 (3): 293-4. ( PubMed, DOI )

  14. Uruha A, Hayashi YK, Oya Y, Mori-Yoshimura M, Kanai M, Murata M, Kawamura M, Ogata K, Matsumura T, Suzuki S, Takahashi Y, Kondo T, Kawarabayashi T, Ishii Y, Kokubun N, Yokoi S, Yasuda R, Kira J, Mitsuhashi S, Noguchi S, Nonaka I, Nishino I. Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure. Journal of neurology, neurosurgery, and psychiatry. 2015.05; 86 (5): 483-9. ( PubMed, DOI )

  15. Liang WC, Zhu W, Mitsuhashi S, Noguchi S, Sacher M, Ogawa M, Shih HH, Jong YJ, Nishino I. Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype. Skeletal muscle. 2015; 5 29. ( PubMed, DOI )

  16. Draper I, Mahoney LJ, Mitsuhashi S, Pacak CA, Salomon RN, Kang PB. Silencing of drpr leads to muscle and brain degeneration in adult Drosophila. The American journal of pathology. 2014.10; 184 (10): 2653-61. ( PubMed, DOI )

  17. Furusawa Yoshihiko, Mitsuhashi Satomi, Mori-Yoshimura Madoka, Shimada Yohta, Yamamoto Toshiyuki, Shibuya Makoto, Shimizu Jun, Ohashi Toya, Saito Yuko, Nishino Ichizo, Oya Yasushi, Murata Miho. 酵素補充療法から4年後に発症した遅発型ポンぺ病　剖検例(Late-onset Pompe disease after 4 years of enzyme replacement therapy: An autopsy case) Neurology and Clinical Neuroscience. 2014.01; 2 (1): 7-9. ( ichushi )

  18. Mitsuhashi S, Boyden SE, Estrella EA, Jones TI, Rahimov F, Yu TW, Darras BT, Amato AA, Folkerth RD, Jones PL, Kunkel LM, Kang PB. Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. Neuromuscular disorders : NMD. 2013.12; 23 (12): 975-80. ( PubMed, DOI )

  19. Mitsuhashi S, Nishino I. Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β. Current opinion in neurology. 2013.10; 26 (5): 536-43. ( PubMed, DOI )

  20. Mitsuhashi S, Mitsuhashi H, Alexander MS, Sugimoto H, Kang PB. Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy. FEBS letters. 2013.09; 587 (18): 2952-7. ( PubMed, DOI )

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