Mariko Ikeda-Taniguchi

Nankoku, 7838505, Japan

Last Updated: 09/26/2026

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Found 69 publications

Corrigendum to "Fukuyama congenital muscular dystrophy: Clinical features and therapeutic advances" [Brain Dev. 47(5) (2025) 104437].

Corrigendum to "Fukuyama congenital muscular dystrophy: Clinical features and therapeutic advances" [Brain Dev. 47(5) (2025) 104437].

Journal: Brain & development
Published: September 27, 2025

Response to the letter to the editor "Decoding the pathophysiological role of Fukutin in Fukuyama congenital muscular dystrophy".

Response to the letter to the editor "Decoding the pathophysiological role of Fukutin in Fukuyama congenital muscular dystrophy".

Journal: Brain & development
Published: September 16, 2025

Early childhood weight gain and alanine aminotransferase at age 8: an adjunct study of the Japan Environment and Children's Study.

Early childhood weight gain and alanine aminotransferase at age 8: an adjunct study of the Japan Environment and Children's Study.

Journal: BMC medicine
Published: July 08, 2025

Fukuyama congenital muscular dystrophy: Clinical features and therapeutic advances.

Fukuyama congenital muscular dystrophy: Clinical features and therapeutic advances.

Journal: Brain & development
Published: May 18, 2025

Nonrandomized Allocation of Steroid Therapy in Patients With Fukuyama Congenital Muscular Dystrophy: Study Protocol for a Phase II Clinical Trial.

Nonrandomized Allocation of Steroid Therapy in Patients With Fukuyama Congenital Muscular Dystrophy: Study Protocol for a Phase II Clinical Trial.

Journal: Neuropsychopharmacology reports
Published: February 24, 2025

Regulation of MCCC1 expression by a Parkinson's disease-associated intronic variant: implications for pathogenesis.

Regulation of MCCC1 expression by a Parkinson's disease-associated intronic variant: implications for pathogenesis.

Journal: Journal of human genetics
Published: February 16, 2025

B-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiency.

B-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiency.

Journal: The journal of allergy and clinical immunology. Global
Published: January 22, 2025

Urinary prostaglandin D2 and E2 metabolites are elevated with disease severity in patients with Fukuyama congenital muscular dystrophy.

Urinary prostaglandin D2 and E2 metabolites are elevated with disease severity in patients with Fukuyama congenital muscular dystrophy.

Journal: Scientific reports
Published: August 22, 2024

Molecular Aggregation Strategy for Inhibiting DNases.

Molecular Aggregation Strategy for Inhibiting DNases.

Journal: JACS Au
Published: March 05, 2024

Glutamine Supplementation as a Novel Metabolic Therapeutic Strategy for LIG3-Dependent Chronic Intestinal Pseudo-Obstruction.

Glutamine Supplementation as a Novel Metabolic Therapeutic Strategy for LIG3-Dependent Chronic Intestinal Pseudo-Obstruction.

Journal: Gastroenterology
Published: February 15, 2024

Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm.

Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm.

Journal: Human genetics
Published: June 02, 2023

Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant.

Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant.

Journal: Human molecular genetics
Published: August 22, 2022
Showing 1-12 of 69

Last Updated: 09/26/2026