A02-K05 木下 善仁（近畿大学 理工学部）

A02-K05 木下 善仁（近畿大学 理工学部）

  1. E. Ogawa, T. Fushimi, M. Ogawa-Tominaga, M. Shimura, M. Tajik, K. Ichimoto, A. Matsunaga, T. Tsuruoka, M. Ishige, T. Fuchigami, T. Yamazaki, Y. Kishita, M. Kohda, A. Imai-Okazaki, Y. Okazaki, I. Morioka, A. Ohtake, K. Murayama: “Mortality of Japanese Patients with Leigh Syndrome: Effects of Age at Onset and Genetic Diagnosis” J. Inherit. Metab. Dis. 43, 819-826. (2020) DOI: https://doi.org/10.1002/jimd.12218
  2. N. N. Borna, Y. Kishita, N. Sakai, Y. Hamada, K. Kamagata, M. Kohda, A. Ohtake, K. Murayama, Y. Okazaki: “Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL” Genes (Basel) 11, 1325 (2020) DOI: https://doi.org/10.3390/genes11111325
  3. N. Akiyama, M. Shimura, T. Yamazaki, H. Harashima, T. Fushimi, T. Tsuruoka, T. Ebihara, K. Ichimoto, A. Matsunaga, M. Saito-Tsuruoka, Y. Yatsuka, Y. Kishita M. Kohda, A. Namba, Y. Kamei, Y. Okazaki, S. Kosugi, A. Ohtake, K. Murayama: “Prenatal Diagnosis of Severe Mitochondrial Diseases Caused by Nuclear Gene Defects: a Study in Japan” Sci. Rep. 11, 3531 (2021) DOI: https://doi.org/10.1038/s41598-021-81015-y
  4. E. Frazier, A. G. Compton, Y. Kishita, D. H. Hock, A. E. Welch, S. S. C. Amarasekera, R. Rius, L. E. Formosa, A. Imai-Okazaki, D. Francis, M. Wang, N. J. Lake, S. Tregoning, J. S. Jabbari, A. Lucattini, K. R. Nitta, A. Ohtake, K. Murayama, D. J. Amor, G. McGillivray, F. Y. Wong, M. S. van der Knaap, R. Jeroen Vermeulen, E. J. Wiltshire, J. M. Fletcher, B. Lewis, G. Baynam, C. Ellaway, S. Balasubramaniam, K. Bhattacharya, M. L. Freckmann, S. Arbuckle, M. Rodriguez, R. J. Taft, S. Sadedin, M. J. Cowley, A. E. Minoche, S. E. Calvo, V. K. Mootha, M. T. Ryan, Y. Okazaki, D. A. Stroud, C. Simons, J. Christodoulou, D. R. Thorburn: “Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent de novo Duplications in the ATAD3 Locus.” Med (N Y), 2, 49-73 (2021) DOI: https://doi.org/10.1016/j.medj.2020.06.004
  5. A. Imai-Okazaki, A. Matsunaga, Y. Yatsuka, K. R. Nitta, Y. Kishita, A. Sugiura, Y. Sugiyama, T. Fushimi, M. Shimura, K. Ichimoto, M. Tajika, M. Ogawa-Tominaga, T. Ebihara, T. Matsuhashi, T. Tsuruoka, M. Kohda, T. Hirata, H. Harashima, S. Nojiri, A. Takeda, A. Nakaya, S. Kogaki, Y. Sakata, A. Ohtake, K. Murayama, Y. Okazaki: “Long-term Prognosis and Genetic Background of Cardiomyopathy in 223 Pediatric Mitochondrial Disease Patients.” Int. J. Cardiol. 341, 48-55 (2021) DOI: https://doi.org/10.1016/j.ijcard.2021.06.042
  6. Y. Kishita, M. Shimura, M. Kohda, T. Fushimi, K. R. Nitta, Y. Yatsuka, S. Hirose, H. Ideguchi, A. Ohtake, K. Murayama, Y. Okazaki: “Genome Sequencing and RNA-seq Analyses of Mitochondrial Complex I Deficiency Revealed Alu Insertion-mediated Deletion in NDUFV2” Hum. Mutat. 42, 1422-1428 (2021) DOI: https://doi.org/10.1002/humu.24274
  7. T. Ebihara, T. Nagatomo, Y. Sugiyama, T. Tsuruoka, Y. Osone, M. Shimura, M. Tajika, T. Matsuhashi, K. Ichimoto, A. Matsunaga, N. Akiyama, M.  Ogawa-Tominaga, Y. Yatsuka, K. R. Nitta, Y. Kishita, T. Fushimi, A. Imai-Okazaki, A. Ohtake, Y. Okazaki, K. Murayama: “Neonatal-onset Mitochondrial Disease: Clinical Features, Molecular Diagnosis and Prognosis” Arch. Dis. Child Fetal Neonatal. Ed. 107, 329-334 (2022) DOI: https://doi.org/10.1136/archdischild-2021-321633
  8. Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Häberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C, Lenz D, Makowski CC, Mosegaard S, Müller MF, Muñoz-Pujol G, Nadel A, Ohtake A, Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM, Terrile C, Tort F, Coster RV, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D, Mayr JA, Piekutowska-Abramczuk D, Ribes A, Rötig A, Taylor RW, Wortmann SB, Murayama K, Meitinger T, Gagneur J, Prokisch H: “Clinical implementation of RNA sequencing for Mendelian disease diagnostics.” Genome Med. 14, 38 (2022) DOI: https://doi.org/10.1186/s13073-022-01019-9
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