Area of research
Molecular Biology · Cardiology and Cardiovascular Medicine
Research interest
Research interests include Muscle Physiology and Disorders, Cardiomyopathy and Myosin Studies, Genetic Neurodegenerative Diseases, and Neurogenetic and Muscular Disorders Research.
Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial
Autosomal dominant <i>in cis</i> D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy
Randomized phase 2 study of<scp>ACE</scp>‐083, a<scp>muscle‐promoting</scp>agent, in facioscapulohumeral muscular dystrophy
Skeletal muscle regeneration in facioscapulohumeral muscular dystrophy is correlated with pathological severity
Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain
Intronic <i>SMCHD1</i> variants in FSHD: testing the potential for CRISPR-Cas9 genome editing
A checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial
Monosomy 18p is a risk factor for facioscapulohumeral dystrophy
Review of the Diagnosis and Treatment of Periodic Paralysis
Developing standardized corticosteroid treatment for Duchenne muscular dystrophy
Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis
Efficacy of prednisone for the treatment of ocular myasthenia (EPITOME): A randomized, controlled trial
The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1
Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD
Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
Prospective cohort study of spinal muscular atrophy types 2 and 3
Design of the Efficacy of Prednisone in the Treatment of Ocular Myasthenia (EPITOME) trial