Ryuta Fujioka

Beppu, 8748501, Japan

Last Updated: 09/26/2026

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Found 15 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

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

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 novel 1-bp deletion variant in DAG1 in Japanese familial asymptomatic hyper-CK-emia.

A novel 1-bp deletion variant in DAG1 in Japanese familial asymptomatic hyper-CK-emia.

Journal: Human genome variation

Published: October 11, 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

Plasma amino acids in patients with essential tremor.

Plasma amino acids in patients with essential tremor.

Journal: Clinical case reports

Published: August 12, 2020

Intronic variant in IQGAP3 associated with hereditary neuropathy with proximal lower dominancy, urinary disturbance, and paroxysmal dry cough.

Intronic variant in IQGAP3 associated with hereditary neuropathy with proximal lower dominancy, urinary disturbance, and paroxysmal dry cough.

Journal: Journal of human genetics

Published: February 10, 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 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

Essential Tremor with Aspartic Acidemia.

Essential Tremor with Aspartic Acidemia.

Journal: The Kurume medical journal

Published: March 18, 2017

Showing 1-12 of 15

Last Updated: 09/26/2026