Carsten G. Bönnemann

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

Kevin M. Flanigan, Diane M. Dunn, Andrew von Niederhausern et al. · Human Mutation · 2009 · 314 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Phase 2a Study of Ataluren-Mediated Dystrophin Production in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

Richard S. Finkel, Kevin M. Flanigan, Brenda Wong et al. · PLoS ONE · 2013 · 241 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy

Eugenio Mercuri, Anne Lampe, Joanna Allsop et al. · Neuromuscular Disorders · 2005 · 184 citations

Medicine, Neurology, Radiology +13

Clinical and genetic characterization of manifesting carriers of DMD mutations

Payam Soltanzadeh, Michael J. Friez, Diane M. Dunn et al. · Neuromuscular Disorders · 2010 · 161 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene

Kevin M. Flanigan, Diane M. Dunn, Andrew von Niederhausern et al. · Human Mutation · 2010 · 118 citations

Life Sciences, Genetics, Molecular Genetics +17