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23 results for Kume,+Kodai

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The first Japanese case of primary familial brain calcification caused by an MYORG variant
Author / Creator:Kume, Kodai ; Takata, Tadayuki ; Morino, Hiroyuki ; Matsuda, Yukiko ; Ohsawa, Ryosuke ; Tada, Yui ; Kurashige, Takashi ; Kawakami, Hideshi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2020-10, Vol.65 (10), p.917-920
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Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia
Author / Creator:Tada, Yui ; Kume, Kodai ; Matsuda, Yukiko ; Kurashige, Takashi ; Kanaya, Yuhei ; Ohsawa, Ryosuke ; Morino, Hiroyuki ; Tabu, Hayato ; Kaneko, Satoshi ; Suenaga, Toshihiko ; Kakizuka, Akira ; Kawakami, Hideshi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2020-04, Vol.65 (4), p.363-369
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Analysis of genetic risk factors in Japanese patients with Parkinson’s disease
Author / Creator:Kanaya, Yuhei ; Kume, Kodai ; Morino, Hiroyuki ; Ohsawa, Ryosuke ; Kurashige, Takashi ; Kamada, Masaki ; Torii, Tsuyoshi ; Izumi, Yuishin ; Maruyama, Hirofumi ; Kawakami, Hideshi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2021-10, Vol.66 (10), p.957-964
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FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report
Author / Creator:Toko, Megumi ; Ohshita, Tomohiko ; Kurashige, Takashi ; Morino, Hiroyuki ; Kume, Kodai ; Yamashita, Hiroshi ; Sobue, Gen ; Iwasaki, Yasushi ; Sone, Jun ; Kawakami, Hideshi ; Maruyama, Hirofumi
Publisher:London: BioMed Central Ltd
Journal title:BMC neurology, 2021-10, Vol.21 (1), p.1-396, Article 396
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Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutation
Author / Creator:Kurashige, Takashi ; Morino, Hiroyuki ; Matsuda, Yukiko ; Mukai, Tomoya ; Murao, Tomomi ; Toko, Megumi ; Kume, Kodai ; Ohsawa, Ryosuke ; Torii, Tsuyoshi ; Tokinobu, Hiroshi ; Maruyama, Hirofumi ; Kawakami, Hideshi
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of neurology, neurosurgery and psychiatry, 2020-02, Vol.91 (2), p.220-222
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Long-term MRI findings of adult-onset neuronal intranuclear inclusion disease
Author / Creator:Tachi, Kisaki ; Takata, Tadayuki ; Kume, Kodai ; Sone, Jun ; Kobara, Hideki ; Deguchi, Kazushi ; Kawakami, Hideshi ; Masaki, Tsutomu
Publisher:Netherlands: Elsevier B.V
Journal title:Clinical neurology and neurosurgery, 2021-02, Vol.201, p.106456-106456, Article 106456
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Aggressive periodontitis and NOD2 variants
Author / Creator:Mizuno, Noriyoshi ; Kume, Kodai ; Nagatani, Yukiko ; Matsuda, Shinji ; Iwata, Tomoyuki ; Ouhara, Kazuhisa ; Kajiya, Mikihito ; Takeda, Katsuhiro ; Matsuda, Yukiko ; Tada, Yui ; Ohsawa, Ryosuke ; Morino, Hiroyuki ; Mihara, Keichiro ; Fujita, Tsuyoshi ; Kawaguchi, Hiroyuki ; Shiba, Hideki ; Kawakami, Hideshi ; Kurihara, Hidemi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2020-10, Vol.65 (10), p.841-846
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Comparison of two families with and without ataxia harboring novel variants in PRKCG
Author / Creator:Tada, Yui ; Kume, Kodai ; Noguchi, Soma ; Sekiya, Tomoko ; Nishinaka, Kazuto ; Ishiguchi, Hiroshi ; Koh, Jinsoo ; Emori, Seiji ; Nakayama, Yoshiaki ; Kurashige, Takashi ; Izumi, Yuishin ; Ito, Hidefumi ; Sakai, Norio ; Kawakami, Hideshi
Publisher:London: Nature Publishing Group
Journal title:Journal of human genetics, 2022-10, Vol.67 (10), p.595-599
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Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report
Author / Creator:Kume, Kodai ; Morino, Hiroyuki ; Miyamoto, Ryosuke ; Matsuda, Yukiko ; Ohsawa, Ryosuke ; Kanaya, Yuhei ; Tada, Yui ; Kurashige, Takashi ; Kawakami, Hideshi
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2020-03, Vol.21 (1), p.68-4, Article 68
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Significance of the hot-cross bun sign on T2-weighted MRI for the diagnosis of multiple system atrophy
Author / Creator:Deguchi, Kazushi ; Ikeda, Kazuyo ; Kume, Kodai ; Takata, Tadayuki ; Kokudo, Yohei ; Kamada, Masaki ; Touge, Tetsuo ; Honjo, Naomi ; Masaki, Tsutomu
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2015-06, Vol.262 (6), p.1433-1439
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Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient
Author / Creator:Saito, Rie ; Tada, Yui ; Oikawa, Daisuke ; Sato, Yusuke ; Seto, Makiko ; Satoh, Akira ; Kume, Kodai ; Ueki, Nozomi ; Nakashima, Masahiro ; Hayashi, Shintaro ; Toyoshima, Yasuko ; Tokunaga, Fuminori ; Kawakami, Hideshi ; Kakita, Akiyoshi
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2022-12, Vol.10 (1), p.177-177, Article 177
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Correction to: FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report
Author / Creator:Toko, Megumi ; Ohshita, Tomohiko ; Kurashige, Takashi ; Morino, Hiroyuki ; Kume, Kodai ; Yamashita, Hiroshi ; Sobue, Gen ; Iwasaki, Yasushi ; Sone, Jun ; Kawakami, Hideshi ; Maruyama, Hirofumi
Publisher:London: BioMed Central Ltd
Journal title:BMC neurology, 2021-10, Vol.21 (1), p.1-413, Article 413
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Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report
Author / Creator:Fujita, Koji ; Matsubara, Tomoyasu ; Miyamoto, Ryosuke ; Sumikura, Hiroyuki ; Takeuchi, Toshiaki ; Maruyama Saladini, Keiko ; Kawarai, Toshitaka ; Nodera, Hiroyuki ; Udaka, Fukashi ; Kume, Kodai ; Morino, Hiroyuki ; Kawakami, Hideshi ; Hasegawa, Masato ; Kaji, Ryuji ; Murayama, Shigeo ; Izumi, Yuishin
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2019-07, Vol.19 (1), p.168-168, Article 168
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Premedication of hemin for eradication therapy of Helicobacter pylori in patients with porphyria
Author / Creator:Takata, Tadayuki ; Kokudo, Yohei ; Morishita, Asahiro ; Kume, Kodai ; Yachida, Tatsuo ; Kamada, Masaki ; Kobara, Hideki ; Deguchi, Kazushi ; Touge, Tetsuo ; Masugata, Hisashi ; Masaki, Tsutomu
Publisher:England: John Wiley & Sons, Inc
Journal title:Clinical case reports, 2021-02, Vol.9 (2), p.944-946
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Advantage of 11C-methionine positron emission tomography for assessing IgG4-related central nervous system lesions
Author / Creator:Kume, Kodai ; Ikeda, Kazuyo ; Deguchi, Kazushi ; Kamada, Masaki ; Okada, Masaki ; Tamiya, Takashi ; Touge, Tetsuo ; Masaki, Tsutomu
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2014-03, Vol.261 (3), p.625-627
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An autopsy case of sporadic, adult-onset amyotrophic lateral sclerosis with heterozygous p.N1935S SETX gene variant
Author / Creator:Nakamura, Masataka ; Nishii, Makoto ; Kume, Kodai ; Kawakami, Hideshi ; Yakushiji, Yusuke
Publisher:England: Oxford University Press
Journal title:Journal of neuropathology and experimental neurology, 2023-08, Vol.82 (8), p.734-738
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Correction: Comparison of two families with and without ataxia harboring novel variants in PRKCG
Author / Creator:Tada, Yui ; Kume, Kodai ; Noguchi, Soma ; Sekiya, Tomoko ; Nishinaka, Kazuto ; Ishiguchi, Hiroshi ; Koh, Jinsoo ; Emori, Seiji ; Nakayama, Yoshiaki ; Kurashige, Takashi ; Izumi, Yuishin ; Ito, Hidefumi ; Sakai, Norio ; Kawakami, Hideshi
Publisher:London: Nature Publishing Group
Journal title:Journal of human genetics, 2022-10, Vol.67 (10), p.621-621
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Serum microRNA expression profiling in patients with multiple system atrophy
Author / Creator:Kume, Kodai ; Iwama, Hisakazu ; Deguchi, Kazushi ; Ikeda, Kazuyo ; Takata, Tadayuki ; Kokudo, Yohei ; Kamada, Masaki ; Fujikawa, Keiko ; Hirose, Kayo ; Masugata, Hisashi ; Touge, Tetsuo ; Masaki, Tsutomu
Publisher:Greece: Spandidos Publications
Journal title:Molecular medicine reports, 2018-01, Vol.17 (1), p.852-860
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Neuromyelitis optica spectrum disorder presenting with repeated hypersomnia due to involvement of the hypothalamus and hypothalamus-amygdala linkage
Author / Creator:Kume, Kodai ; Deguchi, Kazushi ; Ikeda, Kazuyo ; Takata, Tadayuki ; Kokudo, Yohei ; Kamada, Masaki ; Touge, Tetsuo ; Takahashi, Toshiyuki ; Kanbayashi, Takashi ; Masaki, Tsutomu
Publisher:London, England: SAGE Publications
Journal title:Multiple sclerosis, 2015-06, Vol.21 (7), p.960-962
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Advantage of ^sup 11^C-methionine positron emission tomography for assessing IgG4-related central nervous system lesions
Author / Creator:Kume, Kodai ; Ikeda, Kazuyo ; Deguchi, Kazushi ; Kamada, Masaki ; Okada, Masaki ; Tamiya, Takashi ; Touge, Tetsuo ; Masaki, Tsutomu
Publisher:Heidelberg: Springer Nature B.V
Journal title:Journal of neurology, 2014-03, Vol.261 (3), p.625
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Showing 1 to 20 of 23 results

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The first Japanese case of primary familial brain calcification caused by an MYORG variant

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Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia

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Analysis of genetic risk factors in Japanese patients with Parkinson’s disease

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FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report

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Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutation

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Long-term MRI findings of adult-onset neuronal intranuclear inclusion disease

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Aggressive periodontitis and NOD2 variants

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Comparison of two families with and without ataxia harboring novel variants in PRKCG

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Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report

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Significance of the hot-cross bun sign on T2-weighted MRI for the diagnosis of multiple system atrophy

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Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient

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Correction to: FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report

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Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report

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Premedication of hemin for eradication therapy of Helicobacter pylori in patients with porphyria

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Advantage of 11C-methionine positron emission tomography for assessing IgG4-related central nervous system lesions

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An autopsy case of sporadic, adult-onset amyotrophic lateral sclerosis with heterozygous p.N1935S SETX gene variant

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Correction: Comparison of two families with and without ataxia harboring novel variants in PRKCG

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Serum microRNA expression profiling in patients with multiple system atrophy

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Neuromyelitis optica spectrum disorder presenting with repeated hypersomnia due to involvement of the hypothalamus and hypothalamus-amygdala linkage

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Advantage of ^sup 11^C-methionine positron emission tomography for assessing IgG4-related central nervous system lesions

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