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Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature.
Sonoda Y, Fujita A, Torio M, Mukaino T, Sakata A, Matsukura M, Yonemoto K, Hatae K, Ichimiya Y, Chong PF, Ochiai M, Wada Y, Kadoya M, Okamoto N, Murakami Y, Suzuki T, Isobe N, Shigeto H, Matsumoto N, Sakai Y, Ohga S. Sonoda Y, et al. Among authors: murakami y. Eur J Med Genet. 2024 Feb;67:104895. doi: 10.1016/j.ejmg.2023.104895. Epub 2023 Dec 7. Eur J Med Genet. 2024. PMID: 38070824 Free article. Review.
PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.
Kato M, Saitsu H, Murakami Y, Kikuchi K, Watanabe S, Iai M, Miya K, Matsuura R, Takayama R, Ohba C, Nakashima M, Tsurusaki Y, Miyake N, Hamano S, Osaka H, Hayasaka K, Kinoshita T, Matsumoto N. Kato M, et al. Among authors: murakami y. Neurology. 2014 May 6;82(18):1587-96. doi: 10.1212/WNL.0000000000000389. Epub 2014 Apr 4. Neurology. 2014. PMID: 24706016
Mutations in PIGL in a patient with Mabry syndrome.
Fujiwara I, Murakami Y, Niihori T, Kanno J, Hakoda A, Sakamoto O, Okamoto N, Funayama R, Nagashima T, Nakayama K, Kinoshita T, Kure S, Matsubara Y, Aoki Y. Fujiwara I, et al. Among authors: murakami y. Am J Med Genet A. 2015 Apr;167A(4):777-85. doi: 10.1002/ajmg.a.36987. Epub 2015 Feb 23. Am J Med Genet A. 2015. PMID: 25706356
A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.
Nakagawa T, Taniguchi-Ikeda M, Murakami Y, Nakamura S, Motooka D, Emoto T, Satake W, Nishiyama M, Toyoshima D, Morisada N, Takada S, Tairaku S, Okamoto N, Morioka I, Kurahashi H, Toda T, Kinoshita T, Iijima K. Nakagawa T, et al. Among authors: murakami y. Am J Med Genet A. 2016 Jan;170A(1):183-8. doi: 10.1002/ajmg.a.37397. Epub 2015 Sep 30. Am J Med Genet A. 2016. PMID: 26419326
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.
Makrythanasis P, Kato M, Zaki MS, Saitsu H, Nakamura K, Santoni FA, Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan CV, Roberts N, Parry DA, Johnson CA, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, Antonarakis SE, Murakami Y. Makrythanasis P, et al. Among authors: murakami y. Am J Hum Genet. 2016 Apr 7;98(4):615-26. doi: 10.1016/j.ajhg.2016.02.007. Epub 2016 Mar 17. Am J Hum Genet. 2016. PMID: 26996948 Free PMC article.
4,057 results