Area of research
Molecular Biology · Genetics
Research interest
Research focused on Duchenne muscular dystrophy and Guideline, with related work in Spinal muscular atrophy, Polyradiculoneuropathy, Muscular dystrophy. Notable publications include 'Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care', 'The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations', and 'Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study'.
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study
European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of <scp>Guillain–Barré</scp> syndrome
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of the<scp>NURTURE</scp>study
European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of <scp>Guillain–Barré</scp> syndrome
European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force—Second revision
European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force—Second revision
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
Correction: The genomic and clinical landscape of fetal akinesia
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study
The genomic and clinical landscape of fetal akinesia
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders
ATP8A2-related disorders as recessive cerebellar ataxia
P.113Phenotype, genetics and natural history in 131 SEPN1-related myopathy patients: towards clinical trial readiness
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach
Broad Phenotypic Spectrum of A-Dystroglycanopathies due to POMT1 Mutations in 16 Families
Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy
Recessive TTN truncating mutations define novel forms of core myopathy with heart disease
Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe
MAN1B1 Deficiency: An Unexpected CDG-II
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia