Nagasaka M - Search Results

1

Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant.

Enkhjargal S, Sugahara K, Khaledian B, Nagasaka M, Inagaki H, Kurahashi H, Koshimizu H, Toda T, Taniguchi-Ikeda M. Enkhjargal S, et al. Among authors: nagasaka m. Hum Mol Genet. 2023 Apr 6;32(8):1301-1312. doi: 10.1093/hmg/ddac286. Hum Mol Genet. 2023. PMID: 36426838

2

Prevalence of small for gestational age (SGA) and short stature in children born SGA who qualify for growth hormone treatment at 3 years of age: Population-based study.

Fujita K, Nagasaka M, Iwatani S, Koda T, Kurokawa D, Yamana K, Nishida K, Taniguchi-Ikeda M, Uchino E, Shirai C, Iijima K, Morioka I. Fujita K, et al. Among authors: nagasaka m. Pediatr Int. 2016 May;58(5):372-6. doi: 10.1111/ped.12859. Epub 2016 Feb 19. Pediatr Int. 2016. PMID: 26617415

3

Transcutaneous bilirubin monitoring predicts unexplained late-onset hemolysis in a very low birthweight infant.

Nagasaka M, Kikuma T, Iwatani S, Kurokawa D, Yamana K, Maeyama K, Koda T, Matsumoto H, Taniguchi-Ikeda M, Iijima K, Nakamura H, Morioka I. Nagasaka M, et al. BMC Res Notes. 2016 Mar 10;9:153. doi: 10.1186/s13104-016-1970-1. BMC Res Notes. 2016. PMID: 26965169 Free PMC article.

4

Comprehensive analysis of serum cytokines/chemokines in febrile children with primary human herpes virus-6B infection.

Nagasaka M, Morioka I, Kawabata A, Yamagishi Y, Iwatani S, Taniguchi-Ikeda M, Ishida A, Iijima K, Mori Y. Nagasaka M, et al. J Infect Chemother. 2016 Sep;22(9):593-8. doi: 10.1016/j.jiac.2016.05.010. Epub 2016 Jun 23. J Infect Chemother. 2016. PMID: 27346377

5

Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.

Nagasaka M, Taniguchi-Ikeda M, Inagaki H, Ouchi Y, Kurokawa D, Yamana K, Harada R, Nozu K, Sakai Y, Mishra SK, Yamaguchi Y, Morioka I, Toda T, Kurahashi H, Iijima K. Nagasaka M, et al. J Hum Genet. 2017 Sep;62(9):851-855. doi: 10.1038/jhg.2017.48. Epub 2017 Apr 27. J Hum Genet. 2017. PMID: 28446798

6

Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.

Nagasaka M, Taniguchi-Ikeda M, Inagaki H, Ouchi Y, Kurokawa D, Yamana K, Harada R, Nozu K, Sakai Y, Mishra SK, Yamaguchi Y, Morioka I, Toda T, Kurahashi H, Iijima K. Nagasaka M, et al. J Hum Genet. 2017 Sep;62(9):869. doi: 10.1038/jhg.2017.59. J Hum Genet. 2017. PMID: 28839276

7

A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia.

Kawamura R, Kato T, Miyai S, Suzuki F, Naru Y, Kato M, Tanaka K, Nagasaka M, Tsutsumi M, Inagaki H, Ioroi T, Yoshida M, Nao T, Conlin LK, Iijima K, Kurahashi H, Taniguchi-Ikeda M. Kawamura R, et al. Among authors: nagasaka m. J Hum Genet. 2020 Aug;65(8):705-709. doi: 10.1038/s10038-020-0748-4. Epub 2020 Apr 10. J Hum Genet. 2020. PMID: 32277176 Free PMC article.

8

Assessment of the upper limb muscles in patients with Fukuyama muscular dystrophy: Noninvasive assessment using visual ultrasound muscle analysis and shear wave elastography.

Harada R, Taniguchi-Ikeda M, Nagasaka M, Nishii T, Inui A, Yamamoto T, Morioka I, Kuroda R, Iijima K, Nozu K, Sakai Y, Toda T. Harada R, et al. Among authors: nagasaka m. Neuromuscul Disord. 2022 Sep;32(9):754-762. doi: 10.1016/j.nmd.2022.05.004. Epub 2022 May 17. Neuromuscul Disord. 2022. PMID: 35902324 Free article.

9

Extremely preterm infants small for gestational age are at risk for motor impairment at 3 years corrected age.

Kato T, Mandai T, Iwatani S, Koda T, Nagasaka M, Fujita K, Kurokawa D, Yamana K, Nishida K, Taniguchi-Ikeda M, Tanimura K, Deguchi M, Yamada H, Iijima K, Morioka I. Kato T, et al. Among authors: nagasaka m. Brain Dev. 2016 Feb;38(2):188-95. doi: 10.1016/j.braindev.2015.07.008. Epub 2015 Aug 8. Brain Dev. 2016. PMID: 26265090

10

Dravet syndrome and hemorrhagic shock and encephalopathy syndrome associated with an intronic deletion of SCN1A.

Hanafusa H, Yamaguchi H, Kondo H, Nagasaka M, Juan Ye M, Oikawa S, Tokumoto S, Tomioka K, Nishiyama M, Morisada N, Matsuo M, Nozu K, Nagase H. Hanafusa H, et al. Among authors: nagasaka m. Brain Dev. 2023 Jun;45(6):317-323. doi: 10.1016/j.braindev.2023.01.008. Epub 2023 Feb 9. Brain Dev. 2023. PMID: 36774261

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