Area of research
Genetics · Molecular Biology
Research interest
Research interests include Medicine, Genetics, Adverse effect, Biology, Spinal muscular atrophy, and Pediatrics.
Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO study
Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany
INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy
Re: “Moving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy” by Wilson and Flotte
Diagnosis and Care of Infants and Children with Pompe Disease
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders
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)
Development of practice and consensus-based strategies including a treat-to-target approach for the management of moderate and severe juvenile dermatomyositis in Germany and Austria
Broad Phenotypic Spectrum of A-Dystroglycanopathies due to POMT1 Mutations in 16 Families
Genotype-phenotype correlation in congenital muscular dystrophies with defective O-glycosylation of #CHR:alpha_LOWER#-dystroglycan
36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy