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Page 1
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: mitsutake a. Nat Genet. 2019 Aug;51(8):1222-1232. doi: 10.1038/s41588-019-0458-z. Epub 2019 Jul 22. Nat Genet. 2019. PMID: 31332380
Clinical and neuroimaging review of triplet repeat diseases.
Kurokawa R, Kurokawa M, Mitsutake A, Nakaya M, Baba A, Nakata Y, Moritani T, Abe O. Kurokawa R, et al. Among authors: mitsutake a. Jpn J Radiol. 2023 Feb;41(2):115-130. doi: 10.1007/s11604-022-01343-5. Epub 2022 Sep 28. Jpn J Radiol. 2023. PMID: 36169768 Free PMC article. Review.
CSF P-Tau181 and Other Biomarkers in Patients With Neuronal Intranuclear Inclusion Disease.
Kurihara M, Komatsu H, Sengoku R, Shibukawa M, Morimoto S, Matsubara T, Arakawa A, Orita M, Ishibashi K, Mitsutake A, Shibata S, Ishiura H, Adachi K, Ohse K, Hatano K, Ihara R, Higashihara M, Nishina Y, Tokumaru AM, Ishii K, Saito Y, Murayama S, Kanemaru K, Iwata A. Kurihara M, et al. Among authors: mitsutake a. Neurology. 2023 Mar 7;100(10):e1009-e1019. doi: 10.1212/WNL.0000000000201647. Epub 2022 Dec 14. Neurology. 2023. PMID: 36517236 Free PMC article.
Isolated Paravermal Hyperintensities in Neuronal Intranuclear Inclusion Disease.
Tokimura R, Hashimoto Maeda M, Mitsutake A, Sakai S, Suzuki F, Sugasawa K, Fujimoto C, Ishiura H, Toda T. Tokimura R, et al. Among authors: mitsutake a. Neurology. 2022 May 31;98(22):938-939. doi: 10.1212/WNL.0000000000200590. Epub 2022 Mar 29. Neurology. 2022. PMID: 35351782 No abstract available.
Proximal sensory neuropathy and cerebellar ataxia as presenting symptoms of NOTCH2NLC-related neuronal intranuclear inclusion disease.
Funakawa K, Kurihara M, Takahashi K, Higashihara M, Hara M, Mitsutake A, Ishiura H, Tokumaru AM, Sonoo M, Murayama S, Saito Y, Iwata A. Funakawa K, et al. Among authors: mitsutake a. J Neurol Sci. 2024 Mar 15;458:122915. doi: 10.1016/j.jns.2024.122915. Epub 2024 Feb 2. J Neurol Sci. 2024. PMID: 38326182 No abstract available.
The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation.
Takegami N, Mitsutake A, Mano T, Shintani-Domoto Y, Unuma A, Yamaguchi-Takegami N, Ishiura H, Sakuishi K, Ando M, Yamauchi H, Ono M, Morishita S, Mitsui J, Shimizu J, Tsuji S, Toda T. Takegami N, et al. Among authors: mitsutake a. Intern Med. 2023 Oct 1;62(19):2883-2887. doi: 10.2169/internalmedicine.0992-22. Epub 2023 Feb 15. Intern Med. 2023. PMID: 36792195 Free PMC article.
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: mitsutake a. 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.
20 results