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Multimodal MR imaging in acute exacerbation of methylmalonic acidemia.
Saito R, Murofushi Y, Kimura S, Yasukawa K, Murayama K, Takanashi JI. Saito R, et al. Among authors: murayama k. Radiol Case Rep. 2023 Jan 5;18(3):1010-1014. doi: 10.1016/j.radcr.2022.12.037. eCollection 2023 Mar. Radiol Case Rep. 2023. PMID: 36684635 Free PMC article.
Severe pediatric acute encephalopathy syndromes related to SARS-CoV-2.
Sakuma H, Takanashi JI, Muramatsu K, Kondo H, Shiihara T, Suzuki M, Okanari K, Kasai M, Mitani O, Nakazawa T, Omata T, Shimoda K, Abe Y, Maegaki Y, Murayama K, Murofushi Y, Nagase H, Okumura A, Sakai Y, Tada H, Mizuguchi M; Japanese Pediatric Neuro-COVID-19 Study Group. Sakuma H, et al. Among authors: murayama k. Front Neurosci. 2023 Feb 27;17:1085082. doi: 10.3389/fnins.2023.1085082. eCollection 2023. Front Neurosci. 2023. PMID: 36922927 Free PMC article.
Clinical characteristics of SARS-CoV-2-associated encephalopathy in children: Nationwide epidemiological study.
Kasai M, Sakuma H, Abe Y, Kuki I, Maegaki Y, Murayama K, Murofushi Y, Nagase H, Nishiyama M, Okumura A, Sakai Y, Tada H, Mizuguchi M, Takanashi JI; Japanese Pediatric Neuro-COVID-19 Study Group. Kasai M, et al. Among authors: murayama k. J Neurol Sci. 2024 Feb 15;457:122867. doi: 10.1016/j.jns.2024.122867. Epub 2024 Jan 3. J Neurol Sci. 2024. PMID: 38199023 Free article.
Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder.
Ittiwut C, Ittiwut R, Kuptanon C, Matsuhashi T, Shimura M, Sugiyama Y, Onuki T, Ohtake A, Murayama K, Vatanavicharn N, Dejputtawat W, Tantisirivit N, Kor-Anantakul P, Kamolvisit W, Suphapeetiporn K, Shotelersuk V. Ittiwut C, et al. Among authors: murayama k. Sci Rep. 2023 Dec 12;13(1):22005. doi: 10.1038/s41598-023-49161-7. Sci Rep. 2023. PMID: 38086984 Free PMC article.
Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family.
Suzuki-Ajihara S, Saito-Tsuruoka M, Harashima H, Arai K, Koide H, Yatsuka Y, Imai-Okazaki A, Okazaki Y, Murayama K, Numakura C, Akioka Y, Ohtake A. Suzuki-Ajihara S, et al. Among authors: murayama k. Mol Genet Metab Rep. 2023 Mar 17;35:100966. doi: 10.1016/j.ymgmr.2023.100966. eCollection 2023 Jun. Mol Genet Metab Rep. 2023. PMID: 36967720 Free PMC article.
Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease.
Watanabe C, Osaka H, Watanabe M, Miyauchi A, Jimbo EF, Tokuyama T, Uosaki H, Kishita Y, Okazaki Y, Onuki T, Ebihara T, Aizawa K, Murayama K, Ohtake A, Yamagata T. Watanabe C, et al. Among authors: murayama k. Mol Genet Metab Rep. 2023 Jan 3;34:100951. doi: 10.1016/j.ymgmr.2022.100951. eCollection 2023 Mar. Mol Genet Metab Rep. 2023. PMID: 36632326 Free PMC article.
Adult-onset Leigh Syndrome with a m.9176T>C Mutation Manifested As Reversible Cerebral Vasoconstriction Syndrome.
Ohyama-Tamagake A, Kaneko K, Itami R, Nakano M, Namioka Y, Izumi R, Sato H, Suzuki H, Takeda A, Okazaki Y, Yatsuka Y, Abe T, Murayama K, Sugeno N, Misu T, Aoki M. Ohyama-Tamagake A, et al. Among authors: murayama k. Intern Med. 2023 Jul 1;62(13):1995-1998. doi: 10.2169/internalmedicine.0773-22. Epub 2022 Dec 21. Intern Med. 2023. PMID: 36543208 Free PMC article.
Living donor liver transplantation for myocerebrohepatopathy spectrum due to POLG mutations.
Kadohisa M, Okamoto T, Yamamoto M, Uebayashi EY, Sonoda M, Ogawa E, Yokoyama A, Kawasaki H, Hiejima E, Ito S, Togawa T, Imagawa K, Murayama K, Okajima H, Hatano E. Kadohisa M, et al. Among authors: murayama k. Pediatr Transplant. 2024 Feb;28(1):e14659. doi: 10.1111/petr.14659. Epub 2023 Nov 27. Pediatr Transplant. 2024. PMID: 38012111
1,085 results