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Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance.
Hosoe J, Miya F, Kadowaki H, Fujiwara T, Suzuki K, Kato T, Waki H, Sasako T, Aizu K, Yamamura N, Sasaki F, Kurano M, Hara K, Tanaka M, Ishiura H, Tsuji S, Honda K, Yoshimura J, Morishita S, Matsuzawa F, Aikawa SI, Boroevich KA, Nangaku M, Okada Y, Tsunoda T, Shojima N, Yamauchi T, Kadowaki T. Hosoe J, et al. Among authors: tanaka m. Diabetes Res Clin Pract. 2020 Nov;169:108461. doi: 10.1016/j.diabres.2020.108461. Epub 2020 Sep 22. Diabetes Res Clin Pract. 2020. PMID: 32971154
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.
Higuchi Y, Hashiguchi A, Yuan J, Yoshimura A, Mitsui J, Ishiura H, Tanaka M, Ishihara S, Tanabe H, Nozuma S, Okamoto Y, Matsuura E, Ohkubo R, Inamizu S, Shiraishi W, Yamasaki R, Ohyagi Y, Kira J, Oya Y, Yabe H, Nishikawa N, Tobisawa S, Matsuda N, Masuda M, Kugimoto C, Fukushima K, Yano S, Yoshimura J, Doi K, Nakagawa M, Morishita S, Tsuji S, Takashima H. Higuchi Y, et al. Among authors: tanaka m. Ann Neurol. 2016 Apr;79(4):659-72. doi: 10.1002/ana.24612. Epub 2016 Mar 17. Ann Neurol. 2016. PMID: 26991897 Free PMC article.
Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation.
Naruse H, Ishiura H, Mitsui J, Date H, Takahashi Y, Matsukawa T, Tanaka M, Ishii A, Tamaoka A, Hokkoku K, Sonoo M, Segawa M, Ugawa Y, Doi K, Yoshimura J, Morishita S, Goto J, Tsuji S. Naruse H, et al. Among authors: tanaka m. Neurobiol Aging. 2018 Jan;61:255.e9-255.e16. doi: 10.1016/j.neurobiolaging.2017.08.030. Epub 2017 Sep 6. Neurobiol Aging. 2018. PMID: 29033165
Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion.
Ichinose Y, Ishiura H, Tanaka M, Yoshimura J, Doi K, Umeda T, Yamauchi H, Tsuchiya M, Koh K, Yamashiro N, Mitsui J, Goto J, Onishi H, Ohtsuka T, Shindo K, Morishita S, Tsuji S, Takiyama Y. Ichinose Y, et al. Among authors: tanaka m. Parkinsonism Relat Disord. 2019 Apr;61:57-63. doi: 10.1016/j.parkreldis.2018.11.028. Epub 2018 Dec 2. Parkinsonism Relat Disord. 2019. PMID: 30528172
Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes.
Hiramatsu Y, Okamoto Y, Yoshimura A, Yuan JH, Ando M, Higuchi Y, Hashiguchi A, Matsuura E, Nozaki F, Kumada T, Murayama K, Suzuki M, Yamamoto Y, Matsui N, Miyazaki Y, Yamaguchi M, Suzuki Y, Mitsui J, Ishiura H, Tanaka M, Morishita S, Nishino I, Tsuji S, Takashima H. Hiramatsu Y, et al. Among authors: tanaka m. J Neurol. 2022 Aug;269(8):4129-4140. doi: 10.1007/s00415-022-11026-w. Epub 2022 Mar 2. J Neurol. 2022. PMID: 35235001 Free PMC article.
A Japanese family with primary familial brain calcification presenting with paroxysmal kinesigenic dyskinesia - A comprehensive mutational analysis.
Mitsutake A, Matsukawa T, Porto KJL, Sato T, Katsumata J, Seki T, Maekawa R, Hideyama T, Tanaka M, Ishiura H, Toda T, Tsuji S, Shiio Y. Mitsutake A, et al. Among authors: tanaka m. J Neurol Sci. 2020 Nov 15;418:117091. doi: 10.1016/j.jns.2020.117091. Epub 2020 Aug 11. J Neurol Sci. 2020. PMID: 32798841 No abstract available.
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.
Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, Almansour MA, Kikuchi JK, Taira M, Mitsui J, Takahashi Y, Ichikawa Y, Mano T, Iwata A, Harigaya Y, Matsukawa MK, Matsukawa T, Tanaka M, Shirota Y, Ohtomo R, Kowa H, Date H, Mitsue A, Hatsuta H, Morimoto S, Murayama S, Shiio Y, Saito Y, Mitsutake A, Kawai M, Sasaki T, Sugiyama Y, Hamada M, Ohtomo G, Terao Y, Nakazato Y, Takeda A, Sakiyama Y, Umeda-Kameyama Y, Shinmi J, Ogata K, Kohno Y, Lim SY, Tan AH, Shimizu J, Goto J, Nishino I, Toda T, Morishita S, Tsuji S. Ishiura H, et al. Among authors: tanaka m. Nat Genet. 2019 Aug;51(8):1222-1232. doi: 10.1038/s41588-019-0458-z. Epub 2019 Jul 22. Nat Genet. 2019. PMID: 31332380
Diagnostic Values of Venous Peak Lactate, Lactate-to-pyruvate Ratio, and Fold Increase in Lactate from Baseline in Aerobic Exercise Tests in Patients with Mitochondrial Diseases.
Kurihara M, Sugiyama Y, Tanaka M, Sato K, Mitsutake A, Ishiura H, Kubota A, Sakuishi K, Hayashi T, Iwata A, Shimizu J, Murayama K, Tsuji S, Toda T. Kurihara M, et al. Among authors: tanaka m. Intern Med. 2022 Jul 1;61(13):1939-1946. doi: 10.2169/internalmedicine.8629-21. Epub 2021 Nov 27. Intern Med. 2022. PMID: 34840233 Free PMC article.
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