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Items: 1 to 20 of 694

1.

MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.

El-Hattab AW, Wang J, Dai H, Almannai M, Staufner C, Alfadhel M, Gambello MJ, Prasun P, Raza S, Lyons HJ, Afqi M, Saleh MAM, Faqeih EA, Alzaidan HI, Alshenqiti A, Flore LA, Hertecant J, Sacharow S, Barbouth DS, Murayama K, Shah AA, Lin H, Wong LC.

Hum Mutat. 2017 Dec 27. doi: 10.1002/humu.23387. [Epub ahead of print]

PMID:
29282788
2.

EXPRESS: An application for the quantitative analysis of pharmaceutical tablets using a rapid switching system between a near-infrared spectrometer and a portable near-infrared imaging system equipped with fiber optics.

Murayama K, Ishikawa D, Genkawa T, Ozaki Y.

Appl Spectrosc. 2017 Jan 1:3702817752697. doi: 10.1177/0003702817752697. [Epub ahead of print] No abstract available.

PMID:
29262698
3.

Barth Syndrome: Different Approaches to Diagnosis.

Imai-Okazaki A, Kishita Y, Kohda M, Yatsuka Y, Hirata T, Mizuno Y, Harashima H, Hirono K, Ichida F, Noguchi A, Yoshida M, Tokorodani C, Nishiuchi R, Takeda A, Nakaya A, Sakata Y, Murayama K, Ohtake A, Okazaki Y.

J Pediatr. 2017 Dec 15. pii: S0022-3476(17)31329-X. doi: 10.1016/j.jpeds.2017.09.075. [Epub ahead of print]

PMID:
29249525
4.

A variant of death-receptor 3 associated with rheumatoid arthritis interferes with apoptosis-induction of T cell.

Hashiramoto A, Konishi Y, Murayama K, Kawasaki H, Yoshida K, Tsumiyama K, Tanaka K, Mizuhara M, Shiotsuki T, Kitamura H, Komai K, Kimura T, Yagita H, Shiozawa K, Shiozawa S.

J Biol Chem. 2017 Nov 27. pii: jbc.M117.798884. doi: 10.1074/jbc.M117.798884. [Epub ahead of print]

5.

An Integrated Model of Academic Self-Concept Development: Academic Self-Concept, Grades, Test Scores, and Tracking Over 6 Years.

Marsh HW, Pekrun R, Murayama K, Arens AK, Parker PD, Guo J, Dicke T.

Dev Psychol. 2017 Nov 27. doi: 10.1037/dev0000393. [Epub ahead of print]

PMID:
29172566
6.

Remote intracranial recurrence of IDH mutant gliomas is associated with TP53 mutations and an 8q gain.

Nakae S, Kato T, Murayama K, Sasaki H, Abe M, Kumon M, Kumai T, Yamashiro K, Inamasu J, Hasegawa M, Kurahashi H, Hirose Y.

Oncotarget. 2017 Sep 15;8(49):84729-84742. doi: 10.18632/oncotarget.20951. eCollection 2017 Oct 17.

7.

Impaired prefrontal activity to regulate the intrinsic motivation-action link in schizophrenia.

Takeda K, Matsumoto M, Ogata Y, Maida K, Murakami H, Murayama K, Shimoji K, Hanakawa T, Matsumoto K, Nakagome K.

Neuroimage Clin. 2017 Jul 4;16:32-42. doi: 10.1016/j.nicl.2017.07.003. eCollection 2017.

8.
9.

Increase in proapoptotic activity of inhibitory PAS domain protein via phosphorylation by MK2.

Kasai S, Richardson MJE, Torii S, Yasumoto KI, Shima H, Igarashi K, Itoh K, Sogawa K, Murayama K.

FEBS J. 2017 Dec;284(23):4115-4127. doi: 10.1111/febs.14300. Epub 2017 Nov 13.

PMID:
29054108
10.

Novel Application of Time-Spatial Labeling Inversion Pulse Magnetic Resonance Imaging for Diagnosis of External Hydrocephalus.

Nakae S, Murayama K, Adachi K, Kumai T, Abe M, Hirose Y.

World Neurosurg. 2018 Jan;109:197-201. doi: 10.1016/j.wneu.2017.09.175. Epub 2017 Oct 5.

PMID:
28989050
11.

A prospective study of the motivational and health dynamics of Internet Gaming Disorder.

Weinstein N, Przybylski AK, Murayama K.

PeerJ. 2017 Sep 29;5:e3838. doi: 10.7717/peerj.3838. eCollection 2017.

12.

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.

Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H.

Am J Hum Genet. 2017 Oct 5;101(4):525-538. doi: 10.1016/j.ajhg.2017.08.015. Epub 2017 Sep 21.

13.

Japanese Leigh syndrome case treated with EPI-743.

Kouga T, Takagi M, Miyauchi A, Shimbo H, Iai M, Yamashita S, Murayama K, Klein MB, Miller G, Goto T, Osaka H.

Brain Dev. 2018 Feb;40(2):145-149. doi: 10.1016/j.braindev.2017.08.005. Epub 2017 Sep 12.

PMID:
28916229
14.

Re-evaluation of glycated hemoglobin and glycated albumin with continuous glucose monitoring system as markers of glycemia in patients with liver cirrhosis.

Isoda H, Takahashi H, Eguchi Y, Kojima M, Inoue K, Murayama K, Matsuda Y, Anzai K.

Biomed Rep. 2017 Sep;7(3):286. doi: 10.3892/br.2017.928. Epub 2017 Jun 16.

15.

Introduction of 2,6-Diaminopurines into Serinol Nucleic Acid Improves Anti-miRNA Performance.

Kamiya Y, Donoshita Y, Kamimoto H, Murayama K, Ariyoshi J, Asanuma H.

Chembiochem. 2017 Oct 5;18(19):1917-1922. doi: 10.1002/cbic.201700272. Epub 2017 Aug 22.

PMID:
28748559
16.

Supplementation with branched-chain amino acids ameliorates hypoalbuminemia, prevents sarcopenia, and reduces fat accumulation in the skeletal muscles of patients with liver cirrhosis.

Kitajima Y, Takahashi H, Akiyama T, Murayama K, Iwane S, Kuwashiro T, Tanaka K, Kawazoe S, Ono N, Eguchi T, Anzai K, Eguchi Y.

J Gastroenterol. 2017 Jul 24. doi: 10.1007/s00535-017-1370-x. [Epub ahead of print]

PMID:
28741271
17.

Solid State Structures of Lead Complexes with Relevance for Biological Systems.

Aoki K, Murayama K, Hu NH.

Met Ions Life Sci. 2017 Apr 10;17. pii: /books/9783110434330/9783110434330-007/9783110434330-007.xml. doi: 10.1515/9783110434330-007.

PMID:
28731300
18.

HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing.

Imai-Okazaki A, Kohda M, Kobayashi K, Hirata T, Sakata Y, Murayama K, Ohtake A, Okazaki Y, Nakaya A, Ott J.

Hum Mutat. 2017 Dec;38(12):1796-1800. doi: 10.1002/humu.23298. Epub 2017 Sep 21.

PMID:
28722338
19.

Retrospective analysis of prognostic factors for Waldenstrӧm macroglobulinemia: a multicenter cooperative study in Japan.

Saito A, Isoda A, Kojima M, Yokohama A, Tsukune Y, Sasaki M, Ito S, Ohtsu A, Koike M, Murayama K, Moriya K, Tamura H, Matsumoto M, Nakahashi H, Tanosaki S, Sakura T, Kawamura T, Miyanaga T, Nakamura N, Murakami H, Handa H, Tsukamoto N.

Int J Hematol. 2017 Nov;106(5):681-690. doi: 10.1007/s12185-017-2297-y. Epub 2017 Jul 7.

PMID:
28687991
20.

Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial-RNA-import protein PNPase cause delayed myelination.

Sato R, Arai-Ichinoi N, Kikuchi A, Matsuhashi T, Numata-Uematsu Y, Uematsu M, Fujii Y, Murayama K, Ohtake A, Abe T, Kure S.

Clin Genet. 2017 Jun 8. doi: 10.1111/cge.13068. [Epub ahead of print]

PMID:
28594066

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