N. Strigl‐Pill

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial

S. Strothotte, N. Strigl‐Pill, Birgit Grunert et al. · Journal of Neurology · 2009 · 249 citations

Observational Clinical Trial, Enzyme Replacement Therapy, Inherited Metabolic Disease +4

36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy

Caroline Regnery, Cornelia Kornblum, Frank Hanisch et al. · Journal of Inherited Metabolic Disease · 2012 · 126 citations · Full text

Toward deconstructing the phenotype of late‐onset Pompe disease

Angela Schüller, Stephan Wenninger, N. Strigl‐Pill et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2012 · 114 citations

Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations

Ulrike Schara, Nina Barišić, Marcus Deschauer et al. · Neuromuscular Disorders · 2009 · 57 citations

Dok7 Mutations, Ephedrine Therapy, Pediatrics +3

Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy

Peter Reilich, Nicolai Schramm, Benedikt Schoser et al. · Journal of Neurology · 2010 · 26 citations

Mitochondrial Myopathy, Unusual Phenotypes, Facioscapulohumeral Muscular Dystrophy +5