• 1618 Citations
  • 23 h-Index
19942019
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Fingerprint Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 6 Similar Profiles
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Research Output 1994 2019

A case of early onset life-threatening epilepsy associated with a novel ATP1A3 gene variant

Ishihara, N., Inagaki, H., Miyake, M., Kawamura, Y., Yoshikawa, T. & Kurahashi, H., 01-03-2019, In : Brain and Development. 41, 3, p. 285-291 7 p.

Research output: Contribution to journalArticle

Epilepsy
Mutation
Genes
Respiratory Insufficiency
Parents

Disruption of the responsible gene in a phosphoglucomutase 1 deficiency patient by homozygous chromosomal inversion

Yokoi, K., Nakajima, Y., Oe, T., Inagaki, H., Wada, Y., Fukuda, T., Sugie, H., Yuasa, I., Ito, T. & Kurahashi, H., 01-01-2019, JIMD Reports. Springer, p. 85-90 6 p. (JIMD Reports; vol. 43).

Research output: Chapter in Book/Report/Conference proceedingChapter

Phosphoglucomutase
Genes
Mutation
Congenital Disorders of Glycosylation
Glycogen Storage Disease

Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis

Hayano, S., Okuno, Y., Tsutsumi, M., Inagaki, H., Fukasawa, Y., Kurahashi, H., Kojima, S., Takahashi, Y. & Kato, T., 01-01-2019, In : International Journal of Cardiology. 274, p. 290-295 6 p.

Research output: Contribution to journalArticle

Supravalvular Aortic Stenosis
Elastin
Exome
Mutation
Williams Syndrome

Myogenin promoter-associated lncRNA Myoparr is essential for myogenic differentiation

Hitachi, K., Nakatani, M., Takasaki, A., Ouchi, Y., Uezumi, A., Ageta, H., Inagaki, H., Kurahashi, H. & Tsuchida, K., 01-03-2019, In : EMBO Reports. 20, 3, e47468.

Research output: Contribution to journalArticle

Long Noncoding RNA
Myogenin
Muscle
Myoblasts
Skeletal Muscle

Obstetric complication-associated ANXA5 promoter polymorphisms may affect gene expression via DNA secondary structures

Inagaki, H., Ota, S., Nishizawa, H., Miyamura, H., Nakahira, K., Suzuki, M., Nishiyama, S., Kato, T., Yanagihara, I. & Kurahashi, H., 01-05-2019, In : Journal of Human Genetics. 64, 5, p. 459-466 8 p.

Research output: Contribution to journalArticle

G-Quadruplexes
Annexin A5
Obstetrics
Gene Expression
DNA