Mari Matsuo
Overview
Explore the profile of Mari Matsuo including associated specialties, affiliations and a list of published articles.
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Articles
23
Citations
372
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Recent Articles
1.
Otsuki N, Kato T, Yokomura M, Urano M, Matsuo M, Kobayashi E, et al.
Orphanet J Rare Dis
. 2025 Feb;
20(1):91.
PMID: 40022154
Background: Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disease caused by insufficient functional survival motor neuron protein (SMN). The SMN expression level in the spinal cord is highest...
2.
Ishizaki Y, Matsuo M, Saito K, Fujihira Y
Front Pediatr
. 2022 Jul;
10:924343.
PMID: 35874599
Background: The 5p- syndrome is associated with intellectual disturbance and physical complications from infancy, and patients continue treatment into adulthood. This study aimed to clarify the factors that facilitate and...
3.
Ito M, Yamauchi A, Urano M, Kato T, Matsuo M, Nakashima K, et al.
Brain Dev
. 2021 Aug;
44(1):2-16.
PMID: 34452804
Background: International reporting of epidemiological surveys of spinal muscular atrophy (SMA) in Japan has been limited to Shikoku, despite the epidemiology of the disease in countries worldwide becoming clearer. Treatments...
4.
Sekiguchi F, Tsurusaki Y, Okamoto N, Teik K, Mizuno S, Suzumura H, et al.
J Hum Genet
. 2019 Sep;
64(12):1173-1186.
PMID: 31530938
Coffin-Siris syndrome (CSS, MIM#135900) is a congenital disorder characterized by coarse facial features, intellectual disability, and hypoplasia of the fifth digit and nails. Pathogenic variants for CSS have been found...
5.
Matsuo M, Yamamoto T, Saito K
Congenit Anom (Kyoto)
. 2018 Jun;
59(3):102-103.
PMID: 29926511
No abstract available.
6.
Miyoshi M, Ueno M, Matsuo M, Hamada Y, Takahashi M, Yamamoto M, et al.
Nutrition
. 2017 Jun;
39-40:67-70.
PMID: 28606572
Objective: Serum diamine oxidase (DAO) activity varies to a greater extent in women than in men. DAO activity during the luteal phase was higher than that during the follicular phase...
7.
Watanabe M, Matsuo M, Ogawa M, Uchiyama T, Shimizu S, Iwasaki N, et al.
J Genet Couns
. 2016 Nov;
26(3):628-639.
PMID: 27830353
The recent advent of noninvasive prenatal testing (NIPT) has had a significant impact in the field of prenatal testing. Although reports on pregnant women who used NIPT have accumulated, little...
8.
Matsuo M, Yamauchi A, Ito Y, Sakauchi M, Yamamoto T, Okamoto N, et al.
Brain Dev
. 2016 Sep;
39(2):177-181.
PMID: 27670155
We report a case of mandibulofacial dysostosis with microcephaly presenting with seizures. The proband, a 6-year-old Korean boy, had microcephaly, malar and mandibular hypoplasia, and deafness. He showed developmental delay...
9.
Shimada S, Shimojima K, Okamoto N, Sangu N, Hirasawa K, Matsuo M, et al.
Brain Dev
. 2014 Aug;
37(5):515-26.
PMID: 25172301
Objective: Monosomy 1p36 syndrome is the most commonly observed subtelomeric deletion syndrome. Patients with this syndrome typically have common clinical features, such as intellectual disability, epilepsy, and characteristic craniofacial features....
10.
Yamada Y, Nomura N, Yamada K, Matsuo M, Suzuki Y, Sameshima K, et al.
Am J Med Genet A
. 2014 Apr;
164A(8):1899-908.
PMID: 24715670
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital...