Rafaelle Bernard
Marseille, 13005, France
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 32 publications
Benchmarking long-read sequencing approaches to resolve facioscapulohumeral dystrophy locus complexity.
Journal: Brain : a journal of neurology
Published: August 12, 2025
Camptocormia as a Phenotypic Variant of FSHD in the Elderly: Clinical, Genetic, and Imaging Features.
Journal: European journal of neurology
Published: May 27, 2025
Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry.
Journal: Orphanet journal of rare diseases
Published: April 09, 2025
French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD).
Journal: Journal of neurology
Published: March 05, 2024
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.
Journal: European journal of human genetics : EJHG
Published: January 20, 2024
Facio-scapulo-humeral muscular dystrophy: towards a molecular diagnosis extended to FSHD2
Journal: Medecine sciences : M/S
Published: January 17, 2023
Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells-derived innervated muscle fibres.
Journal: Journal of cachexia, sarcopenia and muscle
Published: April 07, 2021
Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.
Journal: Orphanet journal of rare diseases
Published: December 24, 2020
Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention.
Journal: International journal of molecular sciences
Published: January 27, 2020
Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism.
Journal: Neurology. Genetics
Published: February 07, 2019
Last Updated: 09/26/2026