Published Papers & Misc - MITSUHASHI Satomi

101. 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 )

102. 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 )

103. 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 )

104. 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 )

105. 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 )

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

107. 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 )

108. 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 )

109. 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 )

110. 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 )

111. 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. ( ichushi )

112. 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 )

113. 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 )

114. 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 )