Madoka Yoshimura-Mori

Central Parkway
Newcastle Upon Tyne, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 111 publications

Identification of prognostic biomarkers in a large cohort of patients with LGMD R2.

Identification of prognostic biomarkers in a large cohort of patients with LGMD R2.

Journal: Journal of neurology

Published: March 10, 2026

Long-term Efficacy and Safety of Amifampridine Phosphate (Firdapse®) in Japanese Patients with Lambert-Eaton Myasthenic Syndrome (LMS-005 Study).

Long-term Efficacy and Safety of Amifampridine Phosphate (Firdapse®) in Japanese Patients with Lambert-Eaton Myasthenic Syndrome (LMS-005 Study).

Journal: Internal medicine (Tokyo, Japan)

Published: June 18, 2025

Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis.

Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis.

Journal: Journal of neuromuscular diseases

Published: February 20, 2025

Clinical and genetic characteristics based on the Japanese patient registry for facioscapulohumeral muscular dystrophy: a nationwide analysis.

Clinical and genetic characteristics based on the Japanese patient registry for facioscapulohumeral muscular dystrophy: a nationwide analysis.

Journal: Neuromuscular disorders : NMD

Published: December 21, 2024

Modeling of Dysferlinopathy (LGMDR2) Progression: A Longitudinal Fat Fraction Analysis.

Modeling of Dysferlinopathy (LGMDR2) Progression: A Longitudinal Fat Fraction Analysis.

Journal: Neurology. Genetics

Published: December 20, 2024

High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2.

High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2.

Journal: Journal of cachexia, sarcopenia and muscle

Published: November 27, 2024

Identification of ZNF850 as a novel CTG repeat expansion-related gene in myotonic dystrophy type 1 patient-derived iPSCs.

Identification of ZNF850 as a novel CTG repeat expansion-related gene in myotonic dystrophy type 1 patient-derived iPSCs.

Journal: Human molecular genetics

Published: August 01, 2024

LAG3 Is Expressed on Muscle-Infiltrating Cytotoxic T Cells, but Scarce on Circulating T Cells, in Patients With Inclusion Body Myositis.

LAG3 Is Expressed on Muscle-Infiltrating Cytotoxic T Cells, but Scarce on Circulating T Cells, in Patients With Inclusion Body Myositis.

Journal: Muscle & nerve

Published: April 30, 2024

Clinical Characteristics of Patients With Becker Muscular Dystrophy Having Pathogenic Microvariants or Duplications.

Clinical Characteristics of Patients With Becker Muscular Dystrophy Having Pathogenic Microvariants or Duplications.

Journal: Neurology. Genetics

Published: April 10, 2024

Safety and efficacy of aceneuramic acid in GNE myopathy: open-label extension study.

Safety and efficacy of aceneuramic acid in GNE myopathy: open-label extension study.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: March 16, 2024

Efficacy and safety of avalglucosidase alfa in Japanese patients with late-onset and infantile-onset Pompe diseases: A case series from clinical trials.

Efficacy and safety of avalglucosidase alfa in Japanese patients with late-onset and infantile-onset Pompe diseases: A case series from clinical trials.

Journal: Molecular genetics and metabolism reports

Published: March 04, 2024

Muscle-specific lack of Gfpt1 triggers ER stress to alleviate misfolded protein accumulation.

Muscle-specific lack of Gfpt1 triggers ER stress to alleviate misfolded protein accumulation.

Journal: Disease models & mechanisms

Published: February 27, 2024

Showing 1-12 of 111

Last Updated: 09/26/2026