Takuya Morikawa

发表

Familial paroxysmal kinesigenic dyskinesia with a novel missense variant (Arg2866Trp) in NBEA

S. Kurata, H. Shibata, Y. Uchiyama, 2021, Journal of Human Genetics.

A Japanese family with dystonia due to a pathogenic variant in SGCE

H. Shibata, S. Yasumoto, Y. Uchiyama, 2022, Human Genome Variation.

A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene

H. Shibata, T. Tateishi, S. Miura, 2021, Human genome variation.

TDRKH is a candidate gene for an autosomal dominant distal hereditary motor neuropathy.

T. Taniwaki, H. Shibata, T. Nomura, 2019, European journal of medical genetics.

Spinocerebellar ataxia 27 with a novel nonsense variant (Lys177X) in FGF14.

T. Taniwaki, H. Shibata, Y. Uchiyama, 2019, European journal of medical genetics.

A new mutation of congenital methemoglobinemia exacerbated after methylene blue treatment

H. Shibata, A. Soeda, S. Ogura, 2018, Acute medicine & surgery.

Oleic Acid-Containing Phosphatidylinositol Is a Blood Biomarker Candidate for SPG28

H. Shibata, Yoshihiro Izumi, Masatomo Takahashi, 2023, Biomedicines.

A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy.

T. Taniwaki, H. Shibata, S. Miura, 2017, European journal of medical genetics.

Ddhd1 knockout mouse as a model of locomotive and physiological abnormality in familial spastic paraplegia

T. Bamba, I. Taniguchi, M. Unoki, 2021, Bioscience reports.

A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia.

T. Taniwaki, H. Shibata, Gohsuke Hattori, 2016, European journal of medical genetics.

Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A

K. Senzaki, Masayuki Ochi, S. Miura, 2024, Human genome variation.

Hexanucleotide repeat expansion in SCA36 reduces the expression of genes involved in ribosome biosynthesis and protein translation.

S. Miura, Takuya Morikawa, Ryuta Fujioka, 2024, Journal of human genetics.