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Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.
Zagaglia S, Selch C, Nisevic JR, Mei D, Michalak Z, Hernandez-Hernandez L, Krithika S, Vezyroglou K, Varadkar SM, Pepler A, Biskup S, Leão M, Gärtner J, Merkenschlager A, Jaksch M, Møller RS, Gardella E, Kristiansen BS, Hansen LK, Vari MS, Helbig KL, Desai S, Smith-Hicks CL, Hino-Fukuyo N, Talvik T, Laugesaar R, Ilves P, Õunap K, Körber I, Hartlieb T, Kudernatsch M, Winkler P, Schimmel M, Hasse A, Knuf M, Heinemeyer J, Makowski C, Ghedia S, Subramanian GM, Striano P, Thomas RH, Micallef C, Thom M, Werring DJ, Kluger GJ, Cross JH, Guerrini R, Balestrini S, Sisodiya SM. Zagaglia S, et al. Among authors: hino fukuyo n. Neurology. 2018 Nov 27;91(22):e2078-e2088. doi: 10.1212/WNL.0000000000006567. Epub 2018 Nov 9. Neurology. 2018. PMID: 30413629 Free PMC article.
Asymmetric drug-induced tremor: rare feature of a common event.
Kakisaka Y, Ito S, Ohara T, Hino-Fukuyo N, Uematsu M, Kure S. Kakisaka Y, et al. Pediatr Neurol. 2013 Jun;48(6):479-80. doi: 10.1016/j.pediatrneurol.2013.03.004. Pediatr Neurol. 2013. PMID: 23668878 No abstract available.
Head turning associated with involuntary gaze deviation.
Kakisaka Y, Hino-Fukuyo N, Kure S. Kakisaka Y, et al. Pediatr Neurol. 2013 Aug;49(2):144. doi: 10.1016/j.pediatrneurol.2013.04.023. Pediatr Neurol. 2013. PMID: 23859865 No abstract available.
Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.
Arai-Ichinoi N, Uematsu M, Sato R, Suzuki T, Kudo H, Kikuchi A, Hino-Fukuyo N, Matsumoto M, Igarashi K, Haginoya K, Kure S. Arai-Ichinoi N, et al. Hum Genet. 2016 Jan;135(1):89-98. doi: 10.1007/s00439-015-1617-7. Epub 2015 Nov 23. Hum Genet. 2016. PMID: 26597493
Lower back pain as a symptom of migrainous corpalgia.
Kakisaka Y, Ohara T, Katayama S, Suzuki T, Hino-Fukuyo N, Uematsu M, Kure S. Kakisaka Y, et al. J Child Neurol. 2013 May;28(5):676-7. doi: 10.1177/0883073813478170. Epub 2013 Feb 26. J Child Neurol. 2013. PMID: 23446803
RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy.
Nakayama T, Saitsu H, Endo W, Kikuchi A, Uematsu M, Haginoya K, Hino-fukuyo N, Kobayashi T, Iwasaki M, Tominaga T, Kure S, Matsumoto N. Nakayama T, et al. Brain Dev. 2014 Jun;36(6):532-6. doi: 10.1016/j.braindev.2013.07.009. Epub 2013 Aug 16. Brain Dev. 2014. PMID: 23958593
71 results