Negishi Y - Search Results

1

Risks of ACTH therapy for West syndrome following BCG vaccination.

Maki Y, Natsume J, Hori I, Takeuchi T, Negishi Y, Kubota T, Maruyama K, Nakata T, Yamamoto H, Tanaka M, Kawaguchi M, Suzuki T, Shiraki A, Sawamura F, Kidokoro H. Maki Y, et al. Among authors: negishi y. Epilepsy Behav. 2021 May;118:107924. doi: 10.1016/j.yebeh.2021.107924. Epub 2021 Apr 7. Epilepsy Behav. 2021. PMID: 33838621

2

A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy.

Nakashima M, Negishi Y, Hori I, Hattori A, Saitoh S, Saitsu H. Nakashima M, et al. Among authors: negishi y. Am J Med Genet A. 2019 Apr;179(4):645-649. doi: 10.1002/ajmg.a.61056. Epub 2019 Jan 24. Am J Med Genet A. 2019. PMID: 30680869

3

Lacosamide for children with paroxysmal kinesigenic dyskinesia.

Furukawa G, Negishi Y, Takeuchi T, Ishihara N, Okumura A. Furukawa G, et al. Among authors: negishi y. Brain Dev. 2020 Sep;42(8):617-620. doi: 10.1016/j.braindev.2020.04.009. Epub 2020 May 16. Brain Dev. 2020. PMID: 32430160

4

Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood.

Kato K, Mizuno S, Inaba M, Fukumura S, Kurahashi N, Maruyama K, Ieda D, Ohashi K, Hori I, Negishi Y, Hattori A, Saitoh S. Kato K, et al. Among authors: negishi y. Brain Dev. 2018 Sep;40(8):678-684. doi: 10.1016/j.braindev.2018.04.008. Epub 2018 May 8. Brain Dev. 2018. PMID: 29752200

5

A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever.

Nakamura Y, Hattori A, Nakashima M, Ieda D, Hori I, Negishi Y, Ando N, Matsumoto N, Saitoh S. Nakamura Y, et al. Among authors: negishi y. Brain Dev. 2018 Mar;40(3):222-225. doi: 10.1016/j.braindev.2017.09.010. Epub 2017 Oct 21. Brain Dev. 2018. PMID: 29066118

6

A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome.

Ieda D, Hori I, Nakamura Y, Ohashi K, Negishi Y, Hattori A, Arisaka A, Hasegawa S, Saitoh S. Ieda D, et al. Among authors: negishi y. Hum Genome Var. 2019 Mar 25;6:15. doi: 10.1038/s41439-019-0046-x. eCollection 2019. Hum Genome Var. 2019. PMID: 30937176 Free PMC article.

7

Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy.

Negishi Y, Ieda D, Hori I, Nozaki Y, Yamagata T, Komaki H, Tohyama J, Nagasaki K, Tada H, Saitoh S. Negishi Y, et al. Orphanet J Rare Dis. 2019 Dec 2;14(1):277. doi: 10.1186/s13023-019-1249-4. Orphanet J Rare Dis. 2019. PMID: 31791363 Free PMC article.

8

Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum.

Nakamura Y, Togawa Y, Okuno Y, Muramatsu H, Nakabayashi K, Kuroki Y, Ieda D, Hori I, Negishi Y, Togawa T, Hattori A, Kojima S, Saitoh S. Nakamura Y, et al. Among authors: negishi y. Brain Dev. 2018 Feb;40(2):134-139. doi: 10.1016/j.braindev.2017.08.003. Epub 2017 Oct 12. Brain Dev. 2018. PMID: 28893434

9

A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia.

Ieda D, Hori I, Nakamura Y, Ohshita H, Negishi Y, Shinohara T, Hattori A, Kato T, Inukai S, Kitamura K, Kawai T, Ohara O, Kunishima S, Saitoh S. Ieda D, et al. Among authors: negishi y. Brain Dev. 2018 Jun;40(6):489-492. doi: 10.1016/j.braindev.2018.01.010. Epub 2018 Feb 12. Brain Dev. 2018. PMID: 29449050

10

A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome.

Hori I, Miya F, Negishi Y, Hattori A, Ando N, Boroevich KA, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. Hori I, et al. Among authors: negishi y. J Hum Genet. 2018 Sep;63(9):957-963. doi: 10.1038/s10038-018-0482-3. Epub 2018 Jun 15. J Hum Genet. 2018. PMID: 29907875

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