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Tomoko Lee

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Articles 47
Citations 263
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Recent Articles
1.
Tokunaga S, Shimomura H, Horibe T, Taniguchi N, Lee T, Takeshima Y
Eur J Paediatr Neurol . 2025 Feb; 54:171-177. PMID: 39955912
Objective: Little clinical data is available for advanced cases of spinal muscular atrophy (SMA) type 1, particularly those requiring ventilation support. Therefore, this study aimed to evaluate the effectiveness of...
2.
Nishio H, Niba E, Saito T, Okamoto K, Lee T, Takeshima Y, et al.
Genes (Basel) . 2024 Oct; 15(10). PMID: 39457418
Background: Spinal muscular atrophy (SMA) is a genetic disease characterized by loss of motor neurons in the spinal cord and lower brainstem. The term "SMA" usually refers to the most...
3.
Maeda M, Shimomura H, Tokunaga S, Taniguchi N, Lee T, Takeshima Y
Children (Basel) . 2024 May; 11(5). PMID: 38790567
Juvenile myasthenia gravis (MG) is a rare autoimmune neuromuscular disease, often treated with anticholinesterases, corticosteroids, and immunosuppressants. However, optimal treatment durations remain unclear. This study investigated the clinical characteristics and...
4.
Awano H, Nambu Y, Itoh C, Kida A, Yamamoto T, Lee T, et al.
Muscle Nerve . 2024 Mar; 69(5):604-612. PMID: 38511270
Introduction/aims: Duchenne muscular dystrophy (DMD) presents with skeletal muscle weakness, followed by cardiorespiratory involvement. The need for longitudinal data regarding DMD that could serve as a control for determining treatment...
5.
Sonehara S, Bo R, Nambu Y, Iketani K, Lee T, Shimomura H, et al.
Genes (Basel) . 2023 Dec; 14(12). PMID: 38137033
Newborn screening (NBS) for spinal muscular atrophy (SMA) is necessary, as favorable outcomes can be achieved by treatment with disease-modifying drugs in early infancy. Although SMA-NBS has been initiated in...
6.
Horibe T, Shimomura H, Tokunaga S, Taniguchi N, Lee T, Kimura S, et al.
Children (Basel) . 2023 May; 10(5). PMID: 37238317
Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous inherited disorder that is treatable. Although the disease usually develops at birth or during infancy, some patients develop the disease...
7.
Noguchi Y, Bo R, Nishio H, Matsumoto H, Matsui K, Yano Y, et al.
Genes (Basel) . 2023 Mar; 14(3). PMID: 36981045
The authors wish to make the following correction to this paper [...].
8.
Noguchi Y, Bo R, Nishio H, Matsumoto H, Matsui K, Yano Y, et al.
Genes (Basel) . 2022 Nov; 13(11). PMID: 36421785
Spinal muscular atrophy (SMA) is a common devastating neuromuscular disorder, usually involving homozygous deletion of the gene. Newly developed drugs can improve the motor functions of infants with SMA when...
9.
Kondo H, Tsuji Y, Lee T, Saito Y, Nishino I
Pediatr Int . 2022 Nov; 64(1):e15342. PMID: 36370373
No abstract available.
10.
Niba E, Awano H, Lee T, Takeshima Y, Shinohara M, Nishio H, et al.
Life (Basel) . 2021 Sep; 11(9). PMID: 34575126
Duchenne muscular dystrophy (DMD) is a fatal muscle wasting disease caused by deficiency in dystrophin, a protein product encoded by the gene. Mitochondrial dysfunction is now attracting much attention as...