Megumu Ogawa

Kodaira, 1878502, Japan

Last Updated: 09/26/2026

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Found 20 publications

Pathogenic CGG expansions in oculopharyngodistal myopathy exhibit distinct characteristics of each causative gene on the flanking sequences as well as methylation status.

Pathogenic CGG expansions in oculopharyngodistal myopathy exhibit distinct characteristics of each causative gene on the flanking sequences as well as methylation status.

Journal: Genome medicine

Published: July 15, 2025

SNUPN variants cause spinocerebellar atrophy by disrupting global splicing in cerebellar Purkinje cells.

SNUPN variants cause spinocerebellar atrophy by disrupting global splicing in cerebellar Purkinje cells.

Journal: Brain : a journal of neurology

Published: April 04, 2025

Substitutions of nucleotides at the 3' ends of COL6A1/2/3 exons induce exon skipping associated with collagen VI-related muscular dystrophies and therapeutic strategies.

Substitutions of nucleotides at the 3' ends of COL6A1/2/3 exons induce exon skipping associated with collagen VI-related muscular dystrophies and therapeutic strategies.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 24, 2024

Branchpoints as potential targets of exon-skipping therapies for genetic disorders.

Branchpoints as potential targets of exon-skipping therapies for genetic disorders.

Journal: Molecular therapy. Nucleic acids

Published: February 03, 2023

Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4.

Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4.

Journal: Acta neuropathologica

Published: September 15, 2022

Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing.

Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing.

Journal: Journal of translational medicine

Published: September 11, 2022

Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy.

Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy.

Journal: Scientific reports

Published: September 08, 2022

RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy.

RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy.

Journal: Human genetics

Published: June 19, 2022

A recurrent homozygous ACTN2 variant associated with core myopathy.

A recurrent homozygous ACTN2 variant associated with core myopathy.

Journal: Acta neuropathologica

Published: July 18, 2021

Pharmacological activation of SERCA ameliorates dystrophic phenotypes in dystrophin-deficient mdx mice.

Pharmacological activation of SERCA ameliorates dystrophic phenotypes in dystrophin-deficient mdx mice.

Journal: Human molecular genetics

Published: February 17, 2021

Causative variant profile of collagen VI-related dystrophy in Japan.

Causative variant profile of collagen VI-related dystrophy in Japan.

Journal: Orphanet journal of rare diseases

Published: January 03, 2021

Evaluation of the Core Formation Process in Congenital Neuromuscular Disease With Uniform Type 1 Fiber and Central Core Disease.

Evaluation of the Core Formation Process in Congenital Neuromuscular Disease With Uniform Type 1 Fiber and Central Core Disease.

Journal: Journal of neuropathology and experimental neurology

Published: November 13, 2020

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Last Updated: 09/26/2026