Maud Beuvin

Centre De Référence De Pathologie Neuromusculaire Paris Est
Estonia

Last Updated: 09/26/2026

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Found 30 publications

Drug-induced autophagic myopathies: Exploring pathophysiology with immunolabelling and proteomics.

Drug-induced autophagic myopathies: Exploring pathophysiology with immunolabelling and proteomics.

Journal: Journal of neuropathology and experimental neurology

Published: January 29, 2026

Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA).

Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA).

Journal: Journal of neuropathology and experimental neurology

Published: November 27, 2025

Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.

Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.

Journal: Journal of neuromuscular diseases

Published: November 18, 2025

Psychosocial Determinants of Pain in Muscle Biopsy.

Psychosocial Determinants of Pain in Muscle Biopsy.

Journal: Muscle & nerve

Published: November 03, 2025

Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era.

Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era.

Journal: Acta neuropathologica communications

Published: October 16, 2024

Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.

Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.

Journal: Acta neuropathologica communications

Published: June 17, 2022

High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients.

High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients.

Journal: Journal of neuropathology and experimental neurology

Published: September 09, 2021

Benefits of therapy by dynamin-2-mutant-specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy.

Benefits of therapy by dynamin-2-mutant-specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy.

Journal: Molecular therapy. Nucleic acids

Published: August 11, 2021

The non-muscle ADF/cofilin-1 controls sarcomeric actin filament integrity and force production in striated muscle laminopathies.

The non-muscle ADF/cofilin-1 controls sarcomeric actin filament integrity and force production in striated muscle laminopathies.

Journal: Cell reports

Published: March 23, 2020

A Muscle Hybrid Promoter as a Novel Tool for Gene Therapy.

A Muscle Hybrid Promoter as a Novel Tool for Gene Therapy.

Journal: Molecular therapy. Methods & clinical development

Published: March 20, 2019

'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.

'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.

Journal: Acta neuropathologica communications

Published: December 19, 2018

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES.

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES.

Journal: Neurology. Genetics

Published: November 21, 2018

Showing 1-12 of 30

Last Updated: 09/26/2026