Hiroko Harashima
Overview
Explore the profile of Hiroko Harashima including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
15
Citations
288
Followers
0
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Recent Articles
1.
Suzuki-Ajihara S, Saito-Tsuruoka M, Harashima H, Arai K, Koide H, Yatsuka Y, et al.
Mol Genet Metab Rep
. 2023 Mar;
35:100966.
PMID: 36967720
The identification of the m.12207G > A variant in (NC_012920.1:m.12207G > A) was first reported in 2006. The affected individual presented with developmental delay, feeding difficulty, proximal muscle weakness, and...
2.
Akiyama N, Shimura M, Yamazaki T, Harashima H, Fushimi T, Tsuruoka T, et al.
Sci Rep
. 2021 Nov;
11(1):22682.
PMID: 34785734
No abstract available.
3.
Imai-Okazaki A, Matsunaga A, Yatsuka Y, Nitta K, Kishita Y, Sugiura A, et al.
Int J Cardiol
. 2021 Jul;
341:48-55.
PMID: 34298071
Background: Cardiomyopathy is a risk factor for poor prognosis in pediatric patients with mitochondrial disease. However, other risk factors including genetic factors related to poor prognosis in mitochondrial disease has...
4.
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan
Akiyama N, Shimura M, Yamazaki T, Harashima H, Fushimi T, Tsuruoka T, et al.
Sci Rep
. 2021 Feb;
11(1):3531.
PMID: 33574353
Prenatal diagnoses of mitochondrial diseases caused by defects in nuclear DNA (nDNA) or mitochondrial DNA have been reported in several countries except for Japan. The present study aimed to clarify...
5.
Imai-Okazaki A, Kishita Y, Kohda M, Mizuno Y, Fushimi T, Matsunaga A, et al.
Int J Cardiol
. 2019 Jan;
279:115-121.
PMID: 30642647
Background: Cardiomyopathy is a reported indicator of poor prognosis in children with mitochondrial disease. However, the association between prognosis and the genetic background of cardiomyopathy in children with mitochondrial disease...
6.
Borna N, Kishita Y, Kohda M, Lim S, Shimura M, Wu Y, et al.
Neurogenetics
. 2019 Jan;
20(1):9-25.
PMID: 30607703
Pentatricopeptide repeat domain proteins are a large family of RNA-binding proteins involved in mitochondrial RNA editing, stability, and translation. Mitochondrial translation machinery defects are an expanding group of genetic diseases...
7.
Imai-Okazaki A, Kishita Y, Kohda M, Yatsuka Y, Hirata T, Mizuno Y, et al.
J Pediatr
. 2017 Dec;
193:256-260.
PMID: 29249525
The diagnosis of Barth syndrome is challenging owing to the wide phenotypic spectrum with allelic heterogeneity. Here we report 3 cases of Barth syndrome with phenotypic and allelic heterogeneity that...
8.
Imai A, Fujita S, Kishita Y, Kohda M, Tokuzawa Y, Hirata T, et al.
Int J Cardiol
. 2016 Jan;
207:203-5.
PMID: 26803244
No abstract available.
9.
Kohda M, Tokuzawa Y, Kishita Y, Nyuzuki H, Moriyama Y, Mizuno Y, et al.
PLoS Genet
. 2016 Jan;
12(1):e1005679.
PMID: 26741492
Mitochondrial disorders have the highest incidence among congenital metabolic disorders characterized by biochemical respiratory chain complex deficiencies. It occurs at a rate of 1 in 5,000 births, and has phenotypic...
10.
Uehara N, Mori M, Tokuzawa Y, Mizuno Y, Tamaru S, Kohda M, et al.
Ann Clin Transl Neurol
. 2014 Oct;
1(5):361-9.
PMID: 25356405
Objective: Mitochondrial respiratory chain disorder (MRCD) is an intractable disease of infants with variable clinical symptoms. Our goal was to identify the causative mutations in MRCD patients. Methods: The subjects...