Marion Masingue

Paris, France

Last Updated: 09/26/2026

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Found 50 publications

Feasibility, validation and application of digital tools for remote monitoring in neuromuscular diseases: the DT4RD protocol.

Feasibility, validation and application of digital tools for remote monitoring in neuromuscular diseases: the DT4RD protocol.

Journal: BMJ open
Published: August 27, 2026

A COA8 homozygous mutation presenting as an intermediate CMT with leukopathy.

A COA8 homozygous mutation presenting as an intermediate CMT with leukopathy.

Journal: Neuromuscular disorders : NMD
Published: February 23, 2026

Prospective gait analysis in patients from the French registry of glycogen storage disease type III: implications for clinical trials.

Prospective gait analysis in patients from the French registry of glycogen storage disease type III: implications for clinical trials.

Journal: Journal of neurology
Published: February 20, 2026

Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy.

Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy.

Journal: Human mutation
Published: January 25, 2026

Whole-Body Muscle MRI in Non-5q Spinal Muscular Atrophy: Patterns, Genotype Prediction, and Diagnostic Implications.

Whole-Body Muscle MRI in Non-5q Spinal Muscular Atrophy: Patterns, Genotype Prediction, and Diagnostic Implications.

Journal: Neurology. Genetics
Published: December 16, 2025

Challenging mtDNA tRNA variant guidelines: Emphasizing single-cell analysis through four novel variants.

Challenging mtDNA tRNA variant guidelines: Emphasizing single-cell analysis through four novel variants.

Journal: Mitochondrion
Published: November 15, 2025

Electrocardiogram vs Electrophysiological Study and Major Conduction Delays in Myotonic Dystrophy Type 1.

Electrocardiogram vs Electrophysiological Study and Major Conduction Delays in Myotonic Dystrophy Type 1.

Journal: JAMA cardiology
Published: September 24, 2025

Transition from childhood to adulthood in neuromuscular disorders: results from the ERN EURO-NMD survey.

Transition from childhood to adulthood in neuromuscular disorders: results from the ERN EURO-NMD survey.

Journal: Orphanet journal of rare diseases
Published: August 26, 2025

ChatGPT in the diagnosis and management of complex polyneuropathies: comparative analysis with neurologists using real-world cases.

ChatGPT in the diagnosis and management of complex polyneuropathies: comparative analysis with neurologists using real-world cases.

Journal: NPJ digital medicine
Published: June 23, 2025

Laminopathies: natural history and risk prediction of heart failure.

Laminopathies: natural history and risk prediction of heart failure.

Journal: European heart journal
Published: June 06, 2025

MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in Adults.

MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in Adults.

Journal: Journal of inherited metabolic disease
Published: May 19, 2025

A Case Series of Unilateral Peripheral Neuropathy.

A Case Series of Unilateral Peripheral Neuropathy.

Journal: Journal of the peripheral nervous system : JPNS
Published: April 09, 2025
Showing 1-12 of 50

Last Updated: 09/26/2026