Karin Kojima
Overview
Explore the profile of Karin Kojima including associated specialties, affiliations and a list of published articles.
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Articles
16
Citations
179
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Recent Articles
1.
Yamagishi H, Osaka H, Muramatsu K, Kojima K, Monden Y, Mitani T, et al.
Sci Rep
. 2024 Dec;
14(1):30051.
PMID: 39627316
Seizures in patients with developmental and epileptic encephalopathies (DEEs) are often highly resistant to various antiseizure medications. Perampanel (PER) is a novel antiseizure medication that non-competitively inhibits the α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid...
2.
Nagai K, Mitani T, Kato M, Kojima K, Fukushima N, Omaeuda T, et al.
Pediatr Blood Cancer
. 2024 Aug;
71(10):e31228.
PMID: 39090683
No abstract available.
3.
Kojima K, Wada T, Shimbo H, Ikeda T, Jimbo E, Saitsu H, et al.
Hum Genome Var
. 2022 Sep;
9(1):33.
PMID: 36104326
The ATRX variant c.21-1G>A was detected by an exome analysis of a patient with Cockayne syndrome without alpha thalassemia X-linked intellectual disability syndrome (ATR-XS). In addition, variants in ERCC6 were...
4.
Kuwajima M, Kojima K, Osaka H, Hamada Y, Jimbo E, Watanabe M, et al.
Mol Genet Metab Rep
. 2021 Oct;
29:100809.
PMID: 34667719
Short-chain enoyl-CoA hydratase (ECHS1) is involved in amino acid and fatty acid catabolism in mitochondria and its deficiency causes Leigh syndrome or exercise-induced dystonia. More than 60 patients with this...
5.
Hasegawa Y, Nishi E, Mishima Y, Sakaguchi T, Sekiguchi F, Miyake N, et al.
Brain Dev
. 2021 Sep;
43(10):1023-1028.
PMID: 34481663
Background: Aromatic L-amino acid decarboxylase (AADC) deficiency, caused by a pathogenic variant in the dopa decarboxylase (DDC) gene, is a rare neurometabolic disorder in which catecholamine and serotonin are not...
6.
Onuki Y, Ono S, Nakajima T, Kojima K, Taga N, Ikeda T, et al.
Brain Commun
. 2021 Aug;
3(3):fcab078.
PMID: 34423296
Aromatic l-amino acid decarboxylase (AADC) is an essential dopamine-synthesizing enzyme. In children with AADC deficiency, the gene delivery of AADC into the putamen, which functionally interacts with cortical regions, was...
7.
Matsumoto A, Kojima K, Miya F, Miyauchi A, Watanabe K, Iwamoto S, et al.
Brain Dev
. 2021 Jun;
43(8):857-862.
PMID: 34092403
Background: The DYNC1H1 gene encodes the heavy chain of cytoplasmic dynein 1, a core structure of the cytoplasmic dynein complex. Dominant DYNC1H1 mutations are implicated in Charcot-Marie-Tooth disease, axonal, type...
8.
Wakabayashi K, Osaka H, Kojima K, Imaizumi T, Yamamoto T, Yamagata T
Hum Genome Var
. 2021 Feb;
8(1):10.
PMID: 33594047
MCT8 deficiency is an X-linked recessive disorder. We report the case of a 2-year-old Japanese boy with MCT8 deficiency caused by a novel frameshift variant, NM_006517.5(SLC16A2_v001):c.966dup [p.(Ile323Hisfs*57)]. He presented no...
9.
Keuls R, Kojima K, Lozzi B, Steele J, Chen Q, Gross S, et al.
Int J Mol Sci
. 2020 Oct;
21(20).
PMID: 33066028
Neural tube closure is a critical early step in central nervous system development that requires precise control of metabolism to ensure proper cellular proliferation and differentiation. Dysregulation of glucose metabolism...
10.
Kojima K, Nakajima T, Taga N, Miyauchi A, Kato M, Matsumoto A, et al.
Brain
. 2019 Jan;
142(2):322-333.
PMID: 30689738
In patients with aromatic l-amino acid decarboxylase (AADC) deficiency, a decrease in catecholamines and serotonin levels in the brain leads to developmental delay and movement disorders. The beneficial effects of...