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937 results

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Page 1
Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy.
Kuroha Y, Ishiguro T, Tada M, Hara N, Murayama K, Kawachi I, Kasuga K, Miyashita A, Hasegawa A, Takahashi T, Matsubara N, Onodera O, Kakita A, Koike R, Ikeuchi T. Kuroha Y, et al. Among authors: ishiguro t. Neurol Genet. 2022 Sep 27;8(5):e200030. doi: 10.1212/NXG.0000000000200030. eCollection 2022 Oct. Neurol Genet. 2022. PMID: 36176336 Free PMC article.
Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.
Miura T, Mezaki N, Konno T, Iwasaki A, Hara N, Miura M, Funayama M, Unai Y, Tashiro Y, Okita K, Kihara T, Ito N, Kanatsuka Y, Jones DT, Hara N, Ishiguro T, Tokutake T, Kasuga K, Nozaki H, Dickson DW, Onodera O, Wszolek ZK, Ikeuchi T. Miura T, et al. Among authors: ishiguro t. J Neurol. 2018 Oct;265(10):2415-2424. doi: 10.1007/s00415-018-9017-2. Epub 2018 Aug 22. J Neurol. 2018. PMID: 30136118 Free PMC article.
Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy.
Mezaki N, Miura T, Ogaki K, Eriguchi M, Mizuno Y, Komatsu K, Yamazaki H, Suetsugi N, Kawajiri S, Yamasaki R, Ishiguro T, Konno T, Nozaki H, Kasuga K, Okuma Y, Kira JI, Hara H, Onodera O, Ikeuchi T. Mezaki N, et al. Among authors: ishiguro t. Neurol Genet. 2018 Dec 7;4(6):e292. doi: 10.1212/NXG.0000000000000292. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30697589 Free PMC article.
Dysarthria-facial paresis syndrome due to long insular artery infarction.
Hanyu R, Tsuboguchi S, Ninomiya I, Ishiguro T, Konno T, Kanazawa M, Onodera O. Hanyu R, et al. Among authors: ishiguro t. J Neurol Sci. 2022 Nov 15;442:120456. doi: 10.1016/j.jns.2022.120456. Epub 2022 Oct 8. J Neurol Sci. 2022. PMID: 36252285 No abstract available.
Novel partial deletions, frameshift and missense mutations of CSF1R in patents with CSF1R-related leukoencephalopathy.
Ishiguro T, Konno T, Hara N, Zhu B, Okada S, Shibata M, Saika R, Kitano T, Toko M, Nezu T, Hama Y, Kawazoe T, Takahashi-Iwata I, Yabe I, Sato K, Takeda H, Toda S, Nishimiya J, Teduka T, Nozaki H, Kasuga K, Miyashita A, Onodera O, Ikeuchi T. Ishiguro T, et al. Eur J Neurol. 2023 Jul;30(7):1861-1870. doi: 10.1111/ene.15796. Epub 2023 Mar 30. Eur J Neurol. 2023. PMID: 36943150
Heterogenous Genetic, Clinical, and Imaging Features in Patients with Neuronal Intranuclear Inclusion Disease Carrying NOTCH2NLC Repeat Expansion.
Fitrah YA, Higuchi Y, Hara N, Tokutake T, Kanazawa M, Sanpei K, Taneda T, Nakajima A, Koide S, Tsuboguchi S, Watanabe M, Fukumoto J, Ando S, Sato T, Iwafuchi Y, Sato A, Hayashi H, Ishiguro T, Takeda H, Takahashi T, Fukuhara N, Kasuga K, Miyashita A, Onodera O, Ikeuchi T. Fitrah YA, et al. Among authors: ishiguro t. Brain Sci. 2023 Jun 15;13(6):955. doi: 10.3390/brainsci13060955. Brain Sci. 2023. PMID: 37371433 Free PMC article.
Cerebellar compensation: a case of aphasia due to cerebellar hemorrhage.
Kinoshita Y, Hatakeyama M, Otsuki M, Ishiguro T, Saji E, Kanazawa M, Onodera O. Kinoshita Y, et al. Among authors: ishiguro t. J Neurol. 2024 Jun;271(6):3639-3642. doi: 10.1007/s00415-024-12276-6. Epub 2024 Mar 4. J Neurol. 2024. PMID: 38436678 No abstract available.
937 results