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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: okazaki y. 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.
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: okazaki y. 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.
Reply to the Letter "Reversible Vasoconstriction Syndrome Is a Complication of SARS-CoV-2 Infection/Vaccination Rather than That of Leigh Syndrome".
Ohyama-Tamagake A, Kaneko K, Itami R, Nakano M, Namioka Y, Izumi R, Sato H, Suzuki H, Takeda A, Yatsuka Y, Okazaki Y, Abe T, Murayama K, Sugeno N, Misu T, Aoki M. Ohyama-Tamagake A, et al. Among authors: okazaki y. Intern Med. 2023 Jul 15;62(14):2159-2160. doi: 10.2169/internalmedicine.1962-23. Epub 2023 Apr 21. Intern Med. 2023. PMID: 37081677 Free PMC article. No abstract available.
Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
Saettini F, Guerra F, Fazio G, Bugarin C, McMillan HJ, Ohtake A, Ardissone A, Itoh M, Giglio S, Cappuccio G, Giardino G, Romano R, Quadri M, Gasperini S, Moratto D, Chiarini M, Akira I, Fukuhara Y, Hayakawa I, Okazaki Y, Mauri M, Piazza R, Cazzaniga G, Biondi A. Saettini F, et al. Among authors: okazaki y. J Clin Immunol. 2023 Nov;43(8):2115-2125. doi: 10.1007/s10875-023-01584-7. Epub 2023 Sep 28. J Clin Immunol. 2023. PMID: 37770806
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
Saettini F, Guerra F, Fazio G, Bugarin C, McMillan HJ, Ohtake A, Ardissone A, Itoh M, Giglio S, Cappuccio G, Giardino G, Romano R, Quadri M, Gasperini S, Moratto D, Chiarini M, Ishiguro A, Fukuhara Y, Hayakawa I, Okazaki Y, Mauri M, Piazza R, Cazzaniga G, Biondi A. Saettini F, et al. Among authors: okazaki y. J Clin Immunol. 2023 Nov;43(8):2126. doi: 10.1007/s10875-023-01600-w. J Clin Immunol. 2023. PMID: 37921915 No abstract available.
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
Manzoni E, Carli S, Gaignard P, Schlieben LD, Hirano M, Ronchi D, Gonzales E, Shimura M, Murayama K, Okazaki Y, Barić I, Petkovic Ramadza D, Karall D, Mayr J, Martinelli D, La Morgia C, Primiano G, Santer R, Servidei S, Bris C, Cano A, Furlan F, Gasperini S, Laborde N, Lamperti C, Lenz D, Mancuso M, Montano V, Menni F, Musumeci O, Nesbitt V, Procopio E, Rouzier C, Staufner C, Taanman JW, Tal G, Ticci C, Cordelli DM, Carelli V, Procaccio V, Prokisch H, Garone C. Manzoni E, et al. Among authors: okazaki y. Brain Commun. 2024 May 6;6(3):fcae160. doi: 10.1093/braincomms/fcae160. eCollection 2024. Brain Commun. 2024. PMID: 38756539 Free PMC article.
1,659 results