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Prenatal clinical manifestations in individuals with COL4A1/2 variants.
J Med Genet. 2021 Aug;58(8):505-513. doi: 10.1136/jmedgenet-2020-106896. Epub 2020 Jul 30.
J Med Genet. 2021.
PMID: 32732225
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.
Miyake N, Fukai R, Ohba C, Chihara T, Miura M, Shimizu H, Kakita A, Imagawa E, Shiina M, Ogata K, Okuno-Yuguchi J, Fueki N, Ogiso Y, Suzumura H, Watabe Y, Imataka G, Leong HY, Fattal-Valevski A, Kramer U, Miyatake S, Kato M, Okamoto N, Sato Y, Mitsuhashi S, Nishino I, Kaneko N, Nishiyama A, Tamura T, Mizuguchi T, Nakashima M, Tanaka F, Saitsu H, Matsumoto N.
Miyake N, et al. Among authors: okuno yuguchi j.
Am J Hum Genet. 2016 Oct 6;99(4):950-961. doi: 10.1016/j.ajhg.2016.08.005. Epub 2016 Sep 22.
Am J Hum Genet. 2016.
PMID: 27666374
Free PMC article.
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Subclinical Neuroaxonal Damage in Patients With Clinically Mild Encephalitis/Encephalopathy With a Reversible Splenial Lesion.
Motobayashi M, Fukuyama T, Okuno-Yuguchi J, Tsukahara K, Nagaharu S, Hagimoto R, Kinoshita T, Nakazawa Y, Inaba Y.
Motobayashi M, et al. Among authors: okuno yuguchi j.
Pediatr Neurol. 2017 Sep;74:e3-e4. doi: 10.1016/j.pediatrneurol.2017.05.026. Epub 2017 Jun 7.
Pediatr Neurol. 2017.
PMID: 28676246
No abstract available.
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An Increase of Cerebrospinal Fluid B-cell Activating Factor Level in Pediatric Patients With Acute Viral Encephalitis.
Motobayashi M, Fukuyama T, Okuno-Yuguchi J, Shioiri T, Nagaharu S, Hagimoto R, Kinoshita T, Inaba Y.
Motobayashi M, et al. Among authors: okuno yuguchi j.
Pediatr Neurol. 2017 May;70:e3-e4. doi: 10.1016/j.pediatrneurol.2017.01.027. Epub 2017 Feb 7.
Pediatr Neurol. 2017.
PMID: 28259511
No abstract available.
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