Takuya Morikawa

Higashi, 8128582, Japan

Last Updated: 09/26/2026

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Found 13 publications

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

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

Journal: Journal of human genetics
Published: November 07, 2023

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

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

Journal: Human genome variation
Published: October 10, 2023

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

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

Journal: Biomedicines
Published: March 07, 2023

Hereditary Congenital Methemoglobinemia Diagnosed at the Age of 79 Years: A Case Report.

Hereditary Congenital Methemoglobinemia Diagnosed at the Age of 79 Years: A Case Report.

Journal: Medicina (Kaunas, Lithuania)
Published: February 20, 2023

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

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

Journal: Human genome variation
Published: June 24, 2022

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

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

Journal: Human genome variation
Published: February 16, 2021

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

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

Journal: Bioscience reports
Published: December 15, 2020

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

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

Journal: Journal of human genetics
Published: November 18, 2020

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

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

Journal: European journal of medical genetics
Published: May 11, 2018

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

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

Journal: European journal of medical genetics
Published: February 23, 2018

A new mutation of congenital methemoglobinemia exacerbated after methylene blue treatment.

A new mutation of congenital methemoglobinemia exacerbated after methylene blue treatment.

Journal: Acute medicine & surgery
Published: September 13, 2017

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.

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.

Journal: European journal of medical genetics
Published: March 25, 2017
Showing 1-12 of 13

Last Updated: 09/26/2026