Familial paroxysmal kinesigenic dyskinesia with a novel missense variant (Arg2866Trp) in NBEA
Miura, Shiroh, Shimojo, Tomofumi, Morikawa, Takuya, Kamada, Takashi, Uchiyama, Yusuke, Kurata, Seiji, Fujioka, Ryuta, Shibata, Hiroki
Published in Journal of human genetics (01.08.2021)
Published in Journal of human genetics (01.08.2021)
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Journal Article
Intronic variant in IQGAP3 associated with hereditary neuropathy with proximal lower dominancy, urinary disturbance, and paroxysmal dry cough
Miura, Shiroh, Kosaka, Kengo, Shimojo, Tomofumi, Matsuura, Eiji, Noda, Kazuhito, Fujioka, Ryuta, Mori, Shin-Ichiro, Umehara, Fujio, Iwaki, Toru, Yamamoto, Ken, Saitsu, Hirotomo, Shibata, Hiroki
Published in Journal of human genetics (01.09.2020)
Published in Journal of human genetics (01.09.2020)
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Journal Article
Plasma amino acids in patients with essential tremor
Miura, Shiroh, Kamada, Takashi, Fujioka, Ryuta, Yamanishi, Yoshihiro
Published in Clinical case reports (01.08.2021)
Published in Clinical case reports (01.08.2021)
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Journal Article
A novel 1-bp deletion variant in DAG1 in Japanese familial asymptomatic hyper-CK-emia
Fan, Luoming, Miura, Shiroh, Shimojo, Tomofumi, Sugino, Hirotoshi, Fujioka, Ryuta, Shibata, Hiroki
Published in Human genome variation (27.01.2022)
Published in Human genome variation (27.01.2022)
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Journal Article
Case report: Frontotemporal dementia and amyotrophic lateral sclerosis caused by a missense variant (p.Arg89Trp) in the valosin-containing protein gene
Miura, Shiroh, Hiruki, Shigeyoshi, Okada, Tomohisa, Takei, Satoko Itani, Senzaki, Kensuke, Okada, Yoko, Ochi, Masayuki, Tanabe, Yuki, Ochi, Hirofumi, Igase, Michiya, Ohyagi, Yasumasa, Shibata, Hiroki
Published in Frontiers in genetics (26.05.2023)
Published in Frontiers in genetics (26.05.2023)
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Journal Article
A trial of topiramate for patients with hereditary spinocerebellar ataxia
Miura, Shiroh, Sawada, Ryusuke, Yorita, Akiko, Kida, Hiroshi, Kamada, Takashi, Yamanishi, Yoshihiro
Published in Clinical case reports (01.02.2023)
Published in Clinical case reports (01.02.2023)
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Journal Article
A Japanese family with dystonia due to a pathogenic variant in SGCE
Morikawa, Takuya, Miura, Shiroh, Fan, Luoming, Watanabe, Emina, Fujioka, Ryuta, Motooka, Hiromichi, Yasumoto, Shingo, Uchiyama, Yusuke, Shibata, Hiroki
Published in Human genome variation (22.08.2022)
Published in Human genome variation (22.08.2022)
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Journal Article
Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry
Liu, Yutao, Hauser, Michael A, Akafo, Stephen K, Qin, Xuejun, Miura, Shiroh, Gibson, Jason R, Wheeler, Joshua, Gaasterland, Douglas E, Challa, Pratap, Herndon, Leon W, Ritch, Robert, Moroi, Sayoko E, Pasquale, Louis R, Girkin, Christopher A, Budenz, Donald L, Wiggs, Janey L, Richards, Julia E, Ashley-Koch, Allison E, Allingham, R Rand
Published in Investigative ophthalmology & visual science (17.09.2013)
Published in Investigative ophthalmology & visual science (17.09.2013)
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Journal Article
Ddhd1 knockout mouse as a model of locomotive and physiological abnormality in familial spastic paraplegia
Morikawa, Takuya, Ohishi, Hiroaki, Kosaka, Kengo, Shimojo, Tomofumi, Nagano, Akihiro, Taniguchi, Itsuki, Fujioka, Ryuta, Moriyama, Kosei, Unoki, Motoko, Takahashi, Masatomo, Nakao, Motonao, Izumi, Yoshihiro, Bamba, Takeshi, Sasaki, Hiroyuki, Miura, Shiroh, Shibata, Hiroki
Published in Bioscience reports (26.02.2021)
Published in Bioscience reports (26.02.2021)
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Journal Article
Oleic Acid-Containing Phosphatidylinositol Is a Blood Biomarker Candidate for SPG28
Morikawa, Takuya, Takahashi, Masatomo, Izumi, Yoshihiro, Bamba, Takeshi, Moriyama, Kosei, Hattori, Gohsuke, Fujioka, Ryuta, Miura, Shiroh, Shibata, Hiroki
Published in Biomedicines (01.04.2023)
Published in Biomedicines (01.04.2023)
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Journal Article
Disease reactivation in a patient with secondary progressive multiple sclerosis after switching treatment from fingolimod to siponimod
Senzaki, Kensuke, Ochi, Hirofumi, Ochi, Masayuki, Okada, Yoko, Miura, Shiroh, Ohyagi, Yasumasa
Published in eNeurologicalSci (01.06.2021)
Published in eNeurologicalSci (01.06.2021)
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Journal Article
Unilateral lower limb atrophy associated with glomus tumors: a case report
Akechi, Yuji, Miura, Shiroh, Ochi, Masayuki, Enoki, Moe, Matsuda, Takuya, Kitazawa, Riko, Fujibuchi, Taketsugu, Ochi, Hirofumi, Igase, Michiya, Ohyagi, Yasumasa
Published in Journal of medical case reports (13.01.2021)
Published in Journal of medical case reports (13.01.2021)
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Journal Article
Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A
Miura, Shiroh, Watanabe, Emina, Senzaki, Kensuke, Hiruki, Shigeyoshi, Matsumoto, Sayaka, Morikawa, Takuya, Uchiyama, Yusuke, Kurata, Seiji, Ochi, Masayuki, Ohyagi, Yasumasa, Shibata, Hiroki
Published in Human genome variation (15.01.2024)
Published in Human genome variation (15.01.2024)
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Journal Article
The Successful Treatment of Myeloperoxidase Antineutrophil Cytoplasmic Antibody-positive Hypertrophic Pachymeningitis in Patients with the Limited Form of Granulomatosis with Polyangiitis Using Methotrexate: Two Case Reports
Kaieda, Shinjiro, Yoshida, Naomi, Minezaki, Midori, Ushijima, Shuri, Wakasugi, Daisuke, Miura, Shiroh, Uchiyama, Yusuke, Ida, Hiroaki, Hoshino, Tomoaki
Published in Internal Medicine (01.01.2017)
Published in Internal Medicine (01.01.2017)
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Journal Article
Bilateral parkinsonism in a patient with infarcts involving the unilateral basal ganglia
Miura, Shiroh, Ochi, Masayuki, Ochi, Hirofumi, Igase, Michiya, Kawaguchi, Naoto, Miyagawa, Masao, Uchiyama, Yusuke, Ohyagi, Yasumasa
Published in eNeurologicalSci (01.12.2020)
Published in eNeurologicalSci (01.12.2020)
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Journal Article
Reversible Conduction Failure in Anti-lactosylceramide-antibody-positive Combined Central and Peripheral Demyelination
Harada, Masaya, Miura, Shiroh, Kida, Hiroshi, Moritaka, Taiga, Irie, Ken-Ichi, Kamada, Takashi, Uchiyama, Yusuke, Shima, Sayuri, Mutoh, Tatsuro, Hoshino, Tomoaki, Taniwaki, Takayuki
Published in Frontiers in neurology (07.06.2019)
Published in Frontiers in neurology (07.06.2019)
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Journal Article
Bilateral cingulate cortices lesions in two autoantibodies directed against MOG (MOG-Ab)-positive patients
Kamada, Takashi, Miura, Shiroh, Harada, Masaya, Irie, Azusa, Kikuchi, Shinsuke, Taniwaki, Takayuki, Kurata, Seiji, Uchiyama, Yusuke, Takahashi, Toshiyuki
Published in Multiple sclerosis and related disorders (01.04.2019)
Published in Multiple sclerosis and related disorders (01.04.2019)
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Journal Article
Reliability of cerebral vasoreactivity assessment from the submandibular window
OKADA, Yoko, SENZAKI, Kensuke, KUWAGAKI, Shiori, KONDO, Shu, TAKEI, Satoko I., MIURA, Shiroh, OCHI, Masayuki, OCHI, Hirofumi, IGASE, Michiya, OHYAGI, Yasumasa
Published in Neurosonology (2021)
Published in Neurosonology (2021)
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Journal Article