Akihiko Miyauchi
Overview
Explore the profile of Akihiko Miyauchi including associated specialties, affiliations and a list of published articles.
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Articles
25
Citations
175
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Recent Articles
11.
Hamanaka K, Imagawa E, Koshimizu E, Miyatake S, Tohyama J, Yamagata T, et al.
Am J Hum Genet
. 2020 Mar;
106(4):549-558.
PMID: 32169168
De novo variants (DNVs) cause many genetic diseases. When DNVs are examined in the whole coding regions of genes in next-generation sequencing analyses, pathogenic DNVs often cluster in a specific...
12.
Miyauchi A, Kouga T, Jimbo E, Matsuhashi T, Abe T, Yamagata T, et al.
Mitochondrion
. 2019 Jul;
49:111-120.
PMID: 31356884
Mitochondrial disease is a genetic disorder in which individuals suffer from energy insufficiency. The various clinical phenotypes of mitochondrial disease include Leigh syndrome (LS), myopathy encephalopathy lactic acidosis and stroke-like...
13.
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...
14.
15.
Nagashima M, Osaka H, Ikeda T, Matsumoto A, Miyauchi A, Kaneko K, et al.
Brain Dev
. 2018 Apr;
40(7):607-611.
PMID: 29661590
Background: The effect of rituximab on acute disseminated encephalomyelitis (ADEM) followed by recurrent optic neuritis (ON) is not yet known. Patient: We are reporting the case of a 4-year-old Japanese...
16.
Miyauchi A, Osaka H, Nagashima M, Kuwajima M, Monden Y, Kohda M, et al.
Brain Dev
. 2018 Mar;
40(6):498-502.
PMID: 29506883
Leigh syndrome, which is a common phenotype of pediatric mitochondrial disease, is a progressive neurodegenerative disease. The typical neuroimaging findings of Leigh syndrome include bilateral symmetric lesions in the basal...
17.
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...
18.
Kojima K, Shirai K, Kobayashi M, Miyauchi A, Saitsu H, Matsumoto N, et al.
Brain Dev
. 2017 Jul;
40(1):69-73.
PMID: 28687180
Background: The potassium voltage-gated channel subfamily Q member 2 (KCNQ2) gene has been reported to be associated with various types of epilepsy, including benign familial neonatal seizure (BFNS), early infantile...
19.
Usui M, Miyauchi A, Nakano Y, Nakamura S, Jimbo E, Itamura S, et al.
Brain Dev
. 2017 Jun;
39(10):886-890.
PMID: 28587793
Niemann-Pick disease type C (NPC) is a rare, progressive autosomal recessive disease. It is caused by mutations in either the NPC1 or NPC2 genes, resulting in defective regulation of intracellular...
20.
Sakamoto S, Monden Y, Fukai R, Miyake N, Saito H, Miyauchi A, et al.
Brain Dev
. 2016 Dec;
39(5):439-443.
PMID: 27916449
We report the case of a 19-year-old female patient who had progressive chorea associated with a GNAO1 mutation. Chorea was refractory to multiple anticonvulsants, and the patient suffered from tiapride-induced...