論文・総説 - 三橋　里美

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  1. Chou PC, Liang WC, Nonaka I, Mitsuhashi S, Nishino I, Jong YJ. Intranuclear rods myopathy with autonomic dysfunction. Brain & development. 2013.08; 35 (7): 686-9. ( PubMed, DOI )

  2. Mitsuhashi H, Mitsuhashi S, Lynn-Jones T, Kawahara G, Kunkel LM. Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy. Human molecular genetics. 2013.02; 22 (3): 568-77. ( PubMed, DOI )

  3. Mitsuhashi S, Kang PB. Update on the genetics of limb girdle muscular dystrophy. Seminars in pediatric neurology. 2012.12; 19 (4): 211-8. ( PubMed, DOI )

  4. Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, Bönnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, Beggs AH, Kunkel LM, Kang PB. Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics. 2012.05; 13 (2): 115-24. ( PubMed, DOI )

  5. Kondo E, Nishimura T, Kosho T, Inaba Y, Mitsuhashi S, Ishida T, Baba A, Koike K, Nishino I, Nonaka I, Furukawa T, Saito K. Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing. American journal of medical genetics. Part A. 2012.04; 158A (4): 772-8. ( PubMed, DOI )

  6. Mitsuhashi S, Nishino I. Phospholipid synthetic defect and mitophagy in muscle disease. Autophagy. 2011.12; 7 (12): 1559-61. ( PubMed, DOI )

  7. Mitsuhashi S, Hatakeyama H, Karahashi M, Koumura T, Nonaka I, Hayashi YK, Noguchi S, Sher RB, Nakagawa Y, Manfredi G, Goto Y, Cox GA, Nishino I. Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy. Human molecular genetics. 2011.10; 20 (19): 3841-51. ( PubMed, DOI )

  8. Saito Y, Komaki H, Hattori A, Takeuchi F, Sasaki M, Kawabata K, Mitsuhashi S, Tominaga K, Hayashi YK, Nowak KJ, Laing NG, Nonaka I, Nishino I. Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations. Neuromuscular disorders : NMD. 2011.07; 21 (7): 489-93. ( PubMed, DOI )

  9. Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, Kurihara M, Quinlivan R, Sewry C, Mitsuhashi H, Goto K, Koksal B, Kale G, Ikeda K, Taguchi R, Noguchi S, Hayashi YK, Nonaka I, Sher RB, Sugimoto H, Nakagawa Y, Cox GA, Topaloglu H, Nishino I. A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. American journal of human genetics. 2011.06; 88 (6): 845-851. ( PubMed, DOI )

  10. Ishigaki K, Mitsuhashi S, Kuwatsuru R, Murakami T, Shishikura K, Suzuki H, Hirayama Y, Nonaka I, Osawa M. High-density areas on muscle CT in childhood-onset Pompe disease are caused by excess calcium accumulation. Acta neuropathologica. 2010.10; 120 (4): 537-43. ( PubMed, DOI )

  11. Mitsuhashi Satomi, Nonaka Ikuya, Wu Shiwen, Alberto Carlos, Moreno Ibarra, Shalaby Sherine, Hayashi Yukiko K., Noguchi Satoru, Nishino Ichizo. Multi-minicore病における遠位型ミオパシー(Distal Myopathy in Multi-minicore Disease) Internal Medicine. 2009.10; 48 (19): 1759-1762. ( 医中誌 )

  12. Hayashi YK, Matsuda C, Ogawa M, Goto K, Tominaga K, Mitsuhashi S, Park YE, Nonaka I, Hino-Fukuyo N, Haginoya K, Sugano H, Nishino I. Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. The Journal of clinical investigation. 2009.09; 119 (9): 2623-33. ( PubMed, DOI )

  13. Arai A, Mitsuhashi S, Saito Y, Komaki H, Sakuma H, Nakagawa E, Sugai K, Sasaki M, Robertson SP, Nishimura G, Yamamoto T, Nonaka I, Nishino I. Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification. Neuromuscular disorders : NMD. 2009.07; 19 (7): 485-8. ( PubMed, DOI )

  14. Mitsuhashi S, Nonaka I, Wu S, Moreno CA, Shalaby S, Hayashi YK, Noguchi S, Nishino I. Distal myopathy in multi-minicore disease. Internal medicine (Tokyo, Japan). 2009; 48 (19): 1759-62. ( PubMed, DOI )

  15. 尾堀 佐知子, 三橋 里美, 松本 直通. 【Long read sequencer】長鎖シークエンサーを用いたヒト疾患解析 遺伝子医学. 2020.07; 10 (3): 23-28. ( 医中誌 )

  16. 堀端 康博, 三橋 里美, 青山 智英子, 清水 裕晶, 杉本 博之. 筋分化におけるホスファチジルコリン輸送タンパク質STARD7の役割の解析 脂質生化学研究. 2019.06; 61 118-120. ( 医中誌 )

  17. 三橋 里美. 【ニューロジェネティクス新時代　次世代シークエンサーが拓く新しい世界】筋疾患・神経疾患のジェネティクス　次世代シークエンサーを用いた筋疾患診断 Clinical Neuroscience. 2018.02; 36 (2): 187-190. ( 医中誌 )

  18. 三橋 里美, 中川 草, 上田 真保子, 今西 規, Frith Martin C., 三橋 弘明. 【どこでも 誰でも より長く　ナノポアシークエンサーが研究の常識を変える!】リピート数が関与する疾患の診断に向けて　サブテロメア領域のD4Z4マクロサテライトリピートを読む 実験医学. 2018.01; 36 (1): 44-48. ( 医中誌 )

  19. 中川 草, 三橋 里美, Kryukov Kirill, 今西 規. 【どこでも 誰でも より長く　ナノポアシークエンサーが研究の常識を変える!】迅速な細菌種の組成解析 実験医学. 2018.01; 36 (1): 32-37. ( 医中誌 )

  20. 三橋 里美, 松本 直通. 【精神科におけるてんかん診療】てんかんの遺伝と遺伝子診断 臨床精神医学. 2017.07; 46 (7): 843-847. ( 医中誌 )

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