Megumi Tsuji
Overview
Explore the profile of Megumi Tsuji including associated specialties, affiliations and a list of published articles.
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Articles
26
Citations
168
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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.
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.
3.
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...
4.
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...
5.
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...
6.
Tsuji M, Nishi M, Tabei T, Ishikawa W, Iai M
Pediatr Int
. 2021 Oct;
64(1):e14731.
PMID: 34708892
No abstract available.
7.
Anzai R, Tsuji M, Yamashita S, Wada Y, Okamoto N, Saitsu H, et al.
Brain Dev
. 2020 Dec;
43(3):402-410.
PMID: 33261925
Aim: MOGS mutations cause congenital disorders of glycosylation type IIb (CDG-IIb or GCS1-CDG). The specific manifestations caused by the mutations in this gene remain unknown. We aimed to describe the...
8.
Nishimura N, Kumaki T, Murakami H, Enomoto Y, Tsurusaki Y, Tsuji M, et al.
Brain Dev
. 2020 Jun;
42(9):639-645.
PMID: 32565002
Objective: COL4A1 variant causes severe central nervous system (CNS) anomalies, including hydranencephaly. However, the pathogenic mechanism underlying the COL4A1 phenotype remains unclear. Here, we report de novo COL4A1 variants in...
9.
Tsuji M, Tanaka M, Tanaka Y, Ikeda A, Tsuyusaki Y, Goto T, et al.
Neuropediatrics
. 2020 Mar;
51(4):298-301.
PMID: 32143223
Patients with infantile Alexander disease (AxD) usually do not survive beyond their early teens without life support care because of progressive central hypoventilation. We present the autopsy report of a...
10.
Ikeda A, Yamamoto A, Ichikawa K, Tsuyusaki Y, Tsuji M, Iai M, et al.
Epilepsy Behav Rep
. 2019 Dec;
13:100349.
PMID: 31879735
Christianson syndrome (CS) is an X-linked intellectual disorder caused by mutations in the gene. Clinical features of CS include an inability to speak, truncal ataxia, postnatal microcephaly, hyperkinesis, and epilepsy....