Published Papers & Misc - MITSUHASHI Satomi

Division display  61 - 80 of about 114 ／  All the affair displays >>

  1. Miyatake S, Kato M, Sawaishi Y, Saito T, Nakashima M, Mizuguchi T, Mitsuhashi S, Takata A, Miyake N, Saitsu H, Matsumoto N. Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria. Annals of neurology. 2018.07; 84 (1): 159-161. ( PubMed, DOI )

  2. Fukuda H, Imagawa E, Hamanaka K, Fujita A, Mitsuhashi S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Kramer U, Matsumoto N, Fattal-Valevski A. A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia. Journal of human genetics. 2018.05; 63 (5): 673-676. ( PubMed, DOI )

  3. Mizuguchi T, Nakashima M, Kato M, Okamoto N, Kurahashi H, Ekhilevitch N, Shiina M, Nishimura G, Shibata T, Matsuo M, Ikeda T, Ogata K, Tsuchida N, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Hata K, Kaname T, Matsubara Y, Saitsu H, Matsumoto N. Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. Human molecular genetics. 2018.04; 27 (8): 1421-1433. ( PubMed, DOI )

  4. Iwama K, Takaori T, Fukushima A, Tohyama J, Ishiyama A, Ohba C, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ito S, Saitsu H, Mizuguchi T, Matsumoto N. Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy. Journal of human genetics. 2018.03; 63 (3): 263-270. ( PubMed, DOI )

  5. Iwama K, Iwata A, Shiina M, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Mizuguchi T, Matsumoto N. A novel mutation in SLC1A3 causes episodic ataxia. Journal of human genetics. 2018.02; 63 (2): 207-211. ( PubMed, DOI )

  6. Zhu W, Eto M, Mitsuhashi S, Takata K, Beck G, Sumi-Akamaru H, Mochizuki H, Sakoda S, Takahashi MP, Nishino I. GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing. Neuromuscular disorders : NMD. 2018.02; 28 (2): 154-157. ( PubMed, DOI )

  7. Mori-Yoshimura M, Mitsuhashi S, Nakamura H, Komaki H, Goto K, Yonemoto N, Takeuchi F, Hayashi YK, Murata M, Takahashi Y, Nishino I, Takeda S, Kimura E. Characteristics of Japanese Patients with Becker Muscular Dystrophy and Intermediate Muscular Dystrophy in a Japanese National Registry of Muscular Dystrophy (Remudy): Heterogeneity and Clinical Variation. Journal of neuromuscular diseases. 2018; 5 (2): 193-203. ( PubMed, DOI )

  8. Watanabe N, Kryukov K, Nakagawa S, Takeuchi JS, Takeshita M, Kirimura Y, Mitsuhashi S, Ishihara T, Aoki H, Inokuchi S, Imanishi T, Inoue S. Detection of pathogenic bacteria in the blood from sepsis patients using 16S rRNA gene amplicon sequencing analysis. PloS one. 2018; 13 (8): e0202049. ( PubMed, DOI )

  9. Mitsuhashi S, Nakagawa S, Takahashi Ueda M, Imanishi T, Frith MC, Mitsuhashi H. Nanopore-based single molecule sequencing of the D4Z4 array responsible for facioscapulohumeral muscular dystrophy. Scientific reports. 2017.11; 7 (1): 14789. ( PubMed, DOI )

  10. Ishiyama A, Sakai C, Matsushima Y, Noguchi S, Mitsuhashi S, Endo Y, Hayashi YK, Saito Y, Nakagawa E, Komaki H, Sugai K, Sasaki M, Sato N, Nonaka I, Goto YI, Nishino I. <i>IBA57</i> mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy. Neurology. Genetics. 2017.10; 3 (5): e184. ( PubMed, DOI )

  11. Okubo M, Minami N, Goto K, Goto Y, Noguchi S, Mitsuhashi S, Nishino I. Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. Journal of human genetics. 2017.10; 62 (10): 931-933. ( PubMed, DOI )

  12. Okubo M, Goto K, Komaki H, Nakamura H, Mori-Yoshimura M, Hayashi YK, Mitsuhashi S, Noguchi S, Kimura E, Nishino I. Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. Orphanet journal of rare diseases. 2017.08; 12 (1): 149. ( PubMed, DOI )

  13. Horibata Y, Ando H, Satou M, Shimizu H, Mitsuhashi S, Shimizu Y, Itoh M, Sugimoto H. Identification of the N-terminal transmembrane domain of StarD7 and its importance for mitochondrial outer membrane localization and phosphatidylcholine transfer. Scientific reports. 2017.08; 7 (1): 8793. ( PubMed, DOI )

  14. Saha M, Mitsuhashi S, Jones MD, Manko K, Reddy HM, Bruels CC, Cho KA, Pacak CA, Draper I, Kang PB. Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions. Human molecular genetics. 2017.08; 26 (15): 2984-3000. ( PubMed, DOI )

  15. Mitsuhashi S, Kryukov K, Nakagawa S, Takeuchi JS, Shiraishi Y, Asano K, Imanishi T. A portable system for rapid bacterial composition analysis using a nanopore-based sequencer and laptop computer. Scientific reports. 2017.07; 7 (1): 5657. ( PubMed, DOI )

  16. Zhu W, Mitsuhashi S, Yonekawa T, Noguchi S, Huei JC, Nalini A, Preethish-Kumar V, Yamamoto M, Murakata K, Mori-Yoshimura M, Kamada S, Yahikozawa H, Karasawa M, Kimura S, Yamashita F, Nishino I. Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele. Journal of human genetics. 2017.02; 62 (2): 159-166. ( PubMed, DOI )

  17. Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, MacArthur DG, Kang PB. The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. Journal of human genetics. 2017.02; 62 (2): 243-252. ( PubMed, DOI )

  18. Nishikawa A, Mitsuhashi S, Miyata N, Nishino I. Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders. Journal of medical genetics. 2017.02; 54 (2): 104-110. ( PubMed, DOI )

  19. Liang WC, Uruha A, Suzuki S, Murakami N, Takeshita E, Chen WZ, Jong YJ, Endo Y, Komaki H, Fujii T, Kawano Y, Mori-Yoshimura M, Oya Y, Xi J, Zhu W, Zhao C, Watanabe Y, Ikemoto K, Nishikawa A, Hamanaka K, Mitsuhashi S, Suzuki N, Nishino I. Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies. Rheumatology (Oxford, England). 2017.02; 56 (2): 287-293. ( PubMed, DOI )

  20. Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, Kuru S, Shiina M, Tsurusaki Y, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Ogata K, Kawai M, Towbin J, Nonaka I, Nishino I, Matsumoto N. Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. American journal of human genetics. 2017.01; 100 (1): 169-178. ( PubMed, DOI )

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