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2,586 results

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Page 1
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. Among authors: sato r. Hum Genet. 2016 Jan;135(1):89-98. doi: 10.1007/s00439-015-1617-7. Epub 2015 Nov 23. Hum Genet. 2016. PMID: 26597493
Efficacy of long term weekly ACTH therapy for intractable epilepsy.
Inui T, Kobayashi T, Kobayashi S, Sato R, Endo W, Kikuchi A, Nakayama T, Uematsu M, Takayanagi M, Kato M, Saitsu H, Matsumoto N, Kure S, Haginoya K. Inui T, et al. Among authors: sato r. Brain Dev. 2015 Apr;37(4):449-54. doi: 10.1016/j.braindev.2014.07.004. Epub 2014 Aug 20. Brain Dev. 2015. PMID: 25149137
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.
Hino-Fukuyo N, Kikuchi A, Arai-Ichinoi N, Niihori T, Sato R, Suzuki T, Kudo H, Sato Y, Nakayama T, Kakisaka Y, Kubota Y, Kobayashi T, Funayama R, Nakayama K, Uematsu M, Aoki Y, Haginoya K, Kure S. Hino-Fukuyo N, et al. Among authors: sato r, sato y. Hum Genet. 2015 Jun;134(6):649-58. doi: 10.1007/s00439-015-1553-6. Epub 2015 Apr 16. Hum Genet. 2015. PMID: 25877686 Clinical Trial.
Patchy white matter hyperintensity in ring chromosome 18 syndrome.
Anzai M, Arai-Ichinoi N, Takezawa Y, Endo W, Inui T, Sato R, Kikuchi A, Uematsu M, Kure S, Haginoya K. Anzai M, et al. Among authors: sato r. Pediatr Int. 2016 Sep;58(9):919-22. doi: 10.1111/ped.13043. Epub 2016 Aug 31. Pediatr Int. 2016. PMID: 27577543
The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
Zerem A, Haginoya K, Lev D, Blumkin L, Kivity S, Linder I, Shoubridge C, Palmer EE, Field M, Boyle J, Chitayat D, Gaillard WD, Kossoff EH, Willems M, Geneviève D, Tran-Mau-Them F, Epstein O, Heyman E, Dugan S, Masurel-Paulet A, Piton A, Kleefstra T, Pfundt R, Sato R, Tzschach A, Matsumoto N, Saitsu H, Leshinsky-Silver E, Lerman-Sagie T. Zerem A, et al. Among authors: sato r. Epilepsia. 2016 Nov;57(11):1858-1869. doi: 10.1111/epi.13560. Epub 2016 Sep 26. Epilepsia. 2016. PMID: 27665735 Free article.
Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutation.
Hino-Fukuyo N, Kikuchi A, Iwasaki M, Sato Y, Kubota Y, Kobayashi T, Nakayama T, Haginoya K, Arai-Ichinoi N, Niihori T, Sato R, Suzuki T, Kudo H, Funayama R, Nakayama K, Aoki Y, Kure S. Hino-Fukuyo N, et al. Among authors: sato r, sato y. Brain Dev. 2017 Apr;39(4):337-340. doi: 10.1016/j.braindev.2016.11.006. Brain Dev. 2017. PMID: 27916450
2,586 results