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The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients.
Sumida K, Inoue K, Takanashi J, Sasaki M, Watanabe K, Suzuki M, Kurahashi H, Omata T, Tanaka M, Yokochi K, Iio J, Iyoda K, Kurokawa T, Matsuo M, Sato T, Iwaki A, Osaka H, Kurosawa K, Yamamoto T, Matsumoto N, Maikusa N, Matsuda H, Sato N. Sumida K, et al. Among authors: yamamoto t. Brain Dev. 2016 Jun;38(6):571-80. doi: 10.1016/j.braindev.2015.12.007. Epub 2016 Jan 13. Brain Dev. 2016. PMID: 26774704
A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination.
Miyamoto S, Nakashima M, Ohashi T, Hiraide T, Kurosawa K, Yamamoto T, Takanashi J, Osaka H, Inoue K, Miyazaki T, Wada Y, Okamoto N, Saitsu H. Miyamoto S, et al. Among authors: yamamoto t. Mol Genet Genomic Med. 2019 Aug;7(8):e814. doi: 10.1002/mgg3.814. Epub 2019 Jun 23. Mol Genet Genomic Med. 2019. PMID: 31231989 Free PMC article.
A severe form of epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma.
Okumura A, Lee T, Ikeno M, Shimojima K, Kajino K, Inoue Y, Yoshikawa N, Suganuma H, Suzuki M, Hisata K, Shoji H, Takanashi J, Barkovich AJ, Shimizu T, Yamamoto T, Hayashi M. Okumura A, et al. Among authors: yamamoto t. Brain Dev. 2012 Nov;34(10):881-5. doi: 10.1016/j.braindev.2012.03.003. Epub 2012 Apr 7. Brain Dev. 2012. PMID: 22483529
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: yamamoto t. 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.
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