Hiroko Shimbo
Overview
Explore the profile of Hiroko Shimbo including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
36
Citations
224
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
11.
Kuwajima M, Goto M, Kurane K, Shimbo H, Omika N, Jimbo E, et al.
Brain Dev
. 2019 Feb;
41(5):465-469.
PMID: 30739820
Mutations in the mitochondrial tRNA gene have been reported in only five patients to date, all of whom presented with muscle weakness and exercise intolerance as signs of myopathy. We...
12.
Tulyeu J, Tamaura M, Jimbo E, Shimbo H, Takano K, Iai M, et al.
Brain Dev
. 2018 Sep;
41(2):195-200.
PMID: 30213442
Alexander disease (AxD) is a neurodegenerative disease in astrocytes caused by a mutation in the gene encoding glial fibrillary acidic protein, GFAP. We herein present the case of a 12-year-old...
13.
Ikeda T, Osaka H, Shimbo H, Tajika M, Yamazaki M, Ueda A, et al.
Hum Genome Var
. 2018 Sep;
5:25.
PMID: 30210801
Approximately 80% of cases of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) harbor a heteroplasmic m.3243A>G transition in the tRNA () gene. We report a MELAS case with...
14.
Ueda A, Shimbo H, Yada Y, Koike Y, Yamagata T, Osaka H
Hum Genome Var
. 2018 Apr;
5:18013.
PMID: 29619238
Pelizaeus-Merzbacher disease (PMD; MIM #312080) is a rare X-linked recessive disorder. A male neonate presented with severe respiratory distress that required tracheostomy. After the appearance of nystagmus, PMD was suspected...
15.
Kouga T, Takagi M, Miyauchi A, Shimbo H, Iai M, Yamashita S, et al.
Brain Dev
. 2017 Sep;
40(2):145-149.
PMID: 28916229
Background: Leigh syndrome is a mitochondrial disease caused by respiratory chain deficiency, and there are no proven effective therapies. EPI-743 is a potent cellular oxidative stress protectant and results of...
16.
Shimbo H, Yokoi T, Aida N, Mizuno S, Suzumura H, Nagai J, et al.
Mol Genet Genomic Med
. 2017 Jul;
5(4):429-437.
PMID: 28717667
Background: Chromosome 2p15p16.1 deletion syndrome is a rare genetic disorder characterized by intellectual disability (ID), neurodevelopmental delay, language delay, growth retardation, microcephaly, structural brain abnormalities, and dysmorphic features. More than...
17.
Matsuhashi T, Sato T, Kanno S, Suzuki T, Matsuo A, Oba Y, et al.
EBioMedicine
. 2017 Jun;
20:27-38.
PMID: 28579242
Mitochondrial dysfunction increases oxidative stress and depletes ATP in a variety of disorders. Several antioxidant therapies and drugs affecting mitochondrial biogenesis are undergoing investigation, although not all of them have...
18.
Shimbo H, Oyoshi T, Kurosawa K
Congenit Anom (Kyoto)
. 2017 Feb;
58(1):33-35.
PMID: 28220539
Saethre-Chotzen syndrome (SCS) is an autosomal dominant craniosynostotic disorder characterized by coronal synostosis, facial asymmetry, ptosis, and limb abnormalities. Haploinsufficiency of TWIST1, a basic helix-loop-helix transcription factor is responsible for...
19.
Shimbo H, Takagi M, Okuda M, Tsuyusaki Y, Takano K, Iai M, et al.
Mol Genet Metab Rep
. 2016 Nov;
1:133-138.
PMID: 27896082
Large numbers of genes are responsible for Leigh syndrome (LS), making genetic confirmation of LS difficult. We screened our patients with LS using a limited set of 21 primers encompassing...
20.
Akiyama T, Osaka H, Shimbo H, Kuhara T, Shibata T, Kobayashi K, et al.
Brain Dev
. 2016 Apr;
38(9):871-4.
PMID: 27056292
Background: Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive disorder that affects the degradation of gamma-aminobutyric acid and leads to the accumulation of gamma-hydroxybutyric acid (GHB) in body...