Yvan De Feraudy

Strasbourg, France

Last Updated: 09/26/2026

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Found 9 publications

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

The MYOCAPTURE project: Capturing the elusive mutations behind congenital myopathies

The MYOCAPTURE project: Capturing the elusive mutations behind congenital myopathies

Journal: Medecine sciences : M/S

Published: November 28, 2025

Levetiracetam Versus Fosphenytoin Infusions as Second-Line Treatment for Pediatric Status Epilepticus: A Multicenter Study Examining Effectiveness, Tolerability, and Ease of Use.

Levetiracetam Versus Fosphenytoin Infusions as Second-Line Treatment for Pediatric Status Epilepticus: A Multicenter Study Examining Effectiveness, Tolerability, and Ease of Use.

Journal: Paediatric drugs

Published: June 23, 2025

Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing-A Multicenter Cohort Study.

Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing-A Multicenter Cohort Study.

Journal: Pediatric neurology

Published: January 04, 2024

Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.

Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.

Journal: Genome medicine

Published: October 30, 2023

Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.

Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.

Journal: Molecular genetics and metabolism

Published: July 27, 2023

The Rogdi knockout mouse is a model for Kohlschütter-Tönz syndrome.

The Rogdi knockout mouse is a model for Kohlschütter-Tönz syndrome.

Journal: Scientific reports

Published: July 24, 2023

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

Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy.

Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy.

Journal: Annals of neurology

Published: November 27, 2019

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Last Updated: 09/26/2026