Area of research
Molecular Biology · Cardiology and Cardiovascular Medicine
Research interest
Research interests include Muscle Physiology and Disorders, Cardiomyopathy and Myosin Studies, Neurogenetic and Muscular Disorders Research, and Cellular transport and secretion.
Delandistrogene Moxeparvovec Gene Therapy in Individuals With Duchenne Muscular Dystrophy: Evidence in Focus
Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO study
Standardization of zebrafish drug testing parameters for muscle diseases
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review
Variants in <i>CLDN5</i> cause a syndrome characterized by seizures, microcephaly and brain calcifications
INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy
First-line options for systemic juvenile idiopathic arthritis treatment: an observational study of Childhood Arthritis and Rheumatology Research Alliance Consensus Treatment Plans
Molecular and cellular basis of genetically inherited skeletal muscle disorders
Lineage-defined leiomyosarcoma subtypes emerge years before diagnosis and determine patient survival
Re: “Moving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy” by Wilson and Flotte
GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder
P.105INCEPTUS pre-phase 1, prospective, non-interventional, natural history run-in study to evaluate subjects aged 4 years and younger with X-linked myotubular myopathy (XLMTM)
Uniparental disomy unveils a novel recessive mutation in POMT2
CONGENITAL MYOPATHIES (CNM)
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
A study of the reactivity of S<sup>(VI)</sup>–F containing warheads with nucleophilic amino-acid side chains under physiological conditions
217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29–31 January 2016
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
Approach to the diagnosis of congenital myopathies
Severe congenital <i>RYR1</i> -associated myopathy
Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy
Consensus Statement on Standard of Care for Congenital Myopathies
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy
C.P.2 In silico analysis of recessive RYR1 mutations identifies novel potential disease mechanisms