Kiyomi Nishiyama
Overview
Explore the profile of Kiyomi Nishiyama including associated specialties, affiliations and a list of published articles.
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Articles
29
Citations
1534
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Recent Articles
1.
Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, et al.
Epilepsia
. 2014 Jun;
55(7):994-1000.
PMID: 24888894
Objective: De novo SCN8A mutations have been reported in patients with epileptic encephalopathy. Herein we report seven patients with de novo heterozygous SCN8A mutations, which were found in our comprehensive...
2.
Ohba C, Nabatame S, Iijima Y, Nishiyama K, Tsurusaki Y, Nakashima M, et al.
J Hum Genet
. 2014 Mar;
59(5):292-5.
PMID: 24621584
Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by MECP2 mutations. We identified a de novo WDR45 mutation, which caused a subtype of neurodegeneration with brain iron accumulation, in...
3.
Nakamura K, Osaka H, Murakami Y, Anzai R, Nishiyama K, Kodera H, et al.
Epilepsia
. 2014 Jan;
55(2):e13-7.
PMID: 24417746
Aberrations in the glycosylphosphatidylinositol (GPI)-anchor biosynthesis pathway constitute a subclass of congenital disorders of glycosylation, and mutations in seven genes involved in this pathway have been identified. Among them, mutations...
4.
Kodera H, Nakamura K, Osaka H, Maegaki Y, Haginoya K, Mizumoto S, et al.
Hum Mutat
. 2013 Oct;
34(12):1708-14.
PMID: 24115232
Early-onset epileptic encephalopathies (EOEE) are severe neurological disorders characterized by frequent seizures accompanied by developmental regression or retardation. Whole-exome sequencing of 12 patients together with five pairs of parents and...
5.
Ohba C, Osaka H, Iai M, Yamashita S, Suzuki Y, Aida N, et al.
Neurogenetics
. 2013 Oct;
14(3-4):225-32.
PMID: 24091540
Cerebellar and/or vermis atrophy is recognized in various types of childhood disorders with clinical and genetic heterogeneity. Although careful evaluation of clinical features and neuroimaging can lead to correct diagnosis...
6.
Nakamura K, Kodera H, Akita T, Shiina M, Kato M, Hoshino H, et al.
Am J Hum Genet
. 2013 Sep;
93(3):496-505.
PMID: 23993195
Heterotrimeric G proteins, composed of α, β, and γ subunits, can transduce a variety of signals from seven-transmembrane-type receptors to intracellular effectors. By whole-exome sequencing and subsequent mutation screening, we...
7.
Nakamura K, Kato M, Osaka H, Yamashita S, Nakagawa E, Haginoya K, et al.
Neurology
. 2013 Aug;
81(11):992-8.
PMID: 23935176
Objective: We aimed to investigate the possible association between SCN2A mutations and early-onset epileptic encephalopathies (EOEEs). Methods: We recruited a total of 328 patients with EOEE, including 67 patients with...
8.
Kondo Y, Koshimizu E, Megarbane A, Hamanoue H, Okada I, Nishiyama K, et al.
Am J Med Genet A
. 2013 May;
161A(7):1543-6.
PMID: 23703728
Microphthalmia with limb anomalies (MLA), also known as Waardenburg anophthalmia syndrome or ophthalmoacromelic syndrome, is a rare autosomal recessive disorder. Recently, we and others successfully identified SMOC1 as the causative...
9.
Kodera H, Kato M, Nord A, Walsh T, Lee M, Yamanaka G, et al.
Epilepsia
. 2013 May;
54(7):1262-9.
PMID: 23662938
Purpose: Early onset epileptic encephalopathies (EOEEs) are heterogeneous epileptic disorders caused by various abnormalities in causative genes including point mutations and copy number variations (CNVs). In this study, we performed...
10.
Nakamura K, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, et al.
Brain Dev
. 2013 Apr;
36(3):272-3.
PMID: 23623288
No abstract available.