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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: murayama k. Neurol Genet. 2022 Sep 27;8(5):e200030. doi: 10.1212/NXG.0000000000200030. eCollection 2022 Oct. Neurol Genet. 2022. PMID: 36176336 Free PMC article.
A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.
Kunii M, Doi H, Higashiyama Y, Kugimoto C, Ueda N, Hirata J, Tomita-Katsumoto A, Kashikura-Kojima M, Kubota S, Taniguchi M, Murayama K, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N, Tanaka F. Kunii M, et al. Among authors: murayama k. J Hum Genet. 2015 Apr;60(4):187-91. doi: 10.1038/jhg.2015.7. Epub 2015 Feb 5. J Hum Genet. 2015. PMID: 25652355 Review.
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
Higuchi Y, Okunushi R, Hara T, Hashiguchi A, Yuan J, Yoshimura A, Murayama K, Ohtake A, Ando M, Hiramatsu Y, Ishihara S, Tanabe H, Okamoto Y, Matsuura E, Ueda T, Toda T, Yamashita S, Yamada K, Koide T, Yaguchi H, Mitsui J, Ishiura H, Yoshimura J, Doi K, Morishita S, Sato K, Nakagawa M, Yamaguchi M, Tsuji S, Takashima H. Higuchi Y, et al. Among authors: murayama k. Brain. 2018 Jun 1;141(6):1622-1636. doi: 10.1093/brain/awy104. Brain. 2018. PMID: 29718187 Free PMC article.
A case report of Leigh syndrome diagnosed by endomyocardial biopsy.
Maruo Y, Ueda Y, Murayama K, Takeda A. Maruo Y, et al. Among authors: murayama k. Eur Heart J Case Rep. 2021 Feb 8;5(2):ytaa582. doi: 10.1093/ehjcr/ytaa582. eCollection 2021 Feb. Eur Heart J Case Rep. 2021. PMID: 33644659 Free PMC article.
Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet.
Numata-Uematsu Y, Uematsu M, Yamamoto T, Saitsu H, Katata Y, Oikawa Y, Saijyo N, Inui T, Murayama K, Ohtake A, Osaka H, Takanashi JI, Kure S, Inoue K. Numata-Uematsu Y, et al. Among authors: murayama k. Mol Genet Metab Rep. 2021 Sep 4;29:100800. doi: 10.1016/j.ymgmr.2021.100800. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34522618 Free PMC article.
1,091 results