Yu Tsuyusaki
Overview
Explore the profile of Yu Tsuyusaki including associated specialties, affiliations and a list of published articles.
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Articles
27
Citations
109
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0
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Recent Articles
1.
Tsuji M, Ikeda A, Tsuyusaki Y, Goto T, Iai M
Pediatr Int
. 2025 Feb;
67(1):e15894.
PMID: 40019443
No abstract available.
2.
Uehara T, Seki E, Nonoda Y, Kumaki T, Tsuyusaki Y, Aida N, et al.
Am J Med Genet A
. 2024 Jun;
194(11):e63803.
PMID: 38923116
Acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy of unknown etiology. The underlying mechanisms are highly heterogeneous, often including genetic backgrounds. Variants of LARS1, encoding the leucyl-tRNA synthetase 1,...
3.
Kuroda Y, Naruto T, Tsuyusaki Y, Kato A, Aida N, Kurosawa K
J Hum Genet
. 2024 Apr;
69(7):349-355.
PMID: 38605133
Biallelic TOE1 variants can cause pontocerebellar hypoplasia type 7 (PCH7), a condition characterized by pontocerebellar hypoplasia with genital abnormality. TOE1 is a 3'-exonuclese for 3'-end maturation in small nuclear RNA....
4.
Ikeda A, Nagafuchi H, Enomoto Y, Kurosawa K, Tsuyusaki Y, Tsuji M, et al.
Seizure
. 2023 Aug;
111:103-105.
PMID: 37572404
No abstract available.
5.
Tsuji M, Ikeda A, Tsuyusaki Y, Iai M, Kurosawa K, Kosaki K, et al.
Brain Dev
. 2023 Jul;
45(8):462-466.
PMID: 37453880
Introduction: Variants in the GNB1 gene, which encodes the β1 subunit of a trimeric G protein, can cause moderate to severe psychomotor retardation. Acute encephalopathies have also been observed in...
6.
Ikeda A, Kumaki T, Tsuyusaki Y, Tsuji M, Enomoto Y, Fujita A, et al.
Front Neurol
. 2023 May;
14:1085228.
PMID: 37251230
Background And Purpose: Hereditary spastic paraplegias (HSPs) are a set of heterogeneous neurodegenerative disorders characterized by bilateral lower limb spasticity. They may present from infancy onwards at any time. Although...
7.
Nabatame S, Tanigawa J, Tominaga K, Kagitani-Shimono K, Yanagihara K, Imai K, et al.
J Neurol Sci
. 2023 Mar;
447:120597.
PMID: 36965413
Objective: In glucose transporter 1 deficiency syndrome (Glut1DS), cerebrospinal fluid glucose (CSFG) and CSFG to blood glucose ratio (CBGR) show significant differences among groups classified by phenotype or genotype. The...
8.
Sakamoto M, Iwama K, Sasaki M, Ishiyama A, Komaki H, Saito T, et al.
Genet Med
. 2022 Oct;
24(12):2453-2463.
PMID: 36305856
Purpose: Cerebellar hypoplasia and atrophy (CBHA) in children is an extremely heterogeneous group of disorders, but few comprehensive genetic studies have been reported. Comprehensive genetic analysis of CBHA patients may...
9.
Miyamoto T, Honda Y, Izawa K, Kanazawa N, Kadowaki S, Ohnishi H, et al.
Front Immunol
. 2022 Oct;
13:905960.
PMID: 36211342
Purpose: Upregulation of type I interferon (IFN) signaling has been increasingly detected in inflammatory diseases. Recently, upregulation of the IFN signature has been suggested as a potential biomarker of IFN-driven...
10.
Ikeda A, Tomiyasu M, Yamamoto A, Tsuyusaki Y, Kawai Y, Tanabe M, et al.
Epilepsy Res
. 2022 Feb;
181:106881.
PMID: 35183975
Objective: Vigabatrin (VGB) is an effective antiseizure medication for West syndrome. It works by irreversibly inhibiting gamma-aminobutyric acid (GABA) transaminase and increasing central GABA levels. Vigabatrin-associated brain abnormalities on magnetic...