Mitsuko Okuda
Overview
Explore the profile of Mitsuko Okuda including associated specialties, affiliations and a list of published articles.
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5
Citations
92
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Recent Articles
1.
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...
2.
Takano K, Tsuyusaki Y, Sato M, Takagi M, Anzai R, Okuda M, et al.
Brain Dev
. 2014 Dec;
37(6):638-42.
PMID: 25457085
Vanishing white matter disease (VWM)/childhood ataxia with central hypomyelination (CACH) is an autosomal recessive leukoencephalopathy caused by mutations in one of five genes, EIF2B1-5, encoding the 5 subunits of eukaryotic...
3.
Kato H, Miyake F, Shimbo H, Ohya M, Sugawara H, Aida N, et al.
Brain Dev
. 2013 Sep;
36(7):630-3.
PMID: 24045174
Creatine transporter deficiency (CTD) is an example of X-linked intellectual disability syndromes, caused by mutations in SLC6A8 on Xq28. Although this is the second most frequent genetic cause of intellectual...
4.
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...
5.
Yoshihara N, Okuda M, Takano K, Wada T, Osaka H
Pediatr Neurol
. 2012 Aug;
47(3):198-200.
PMID: 22883285
A 4-year-old boy presented with a sudden onset of nasal escape of fluids, nasal speech, and difficulty placing his left arm through a sleeve. Neurologic examination indicated a unilateral cranial...