Elke Hobbiebrunken

Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy

Astrid Pechmann, Max Behrens, Katharina Dörnbrack et al. · Brain · 2022 · 70 citations · Full text

Medicine, Neurology, Pediatrics +15

Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?

Moneef Shoukier, Nina Klein, Bernd Auber et al. · Clinical Genetics · 2012 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Effectiveness of creatine monohydrate in mitochondrial encephalomyopathies

Kiyomi Komura, Elke Hobbiebrunken, Ekkehard Wilichowski et al. · Pediatric Neurology · 2003 · 69 citations

Life Sciences, Biochemistry, Neurobiology +12

Making sense of missense variants in TTN-related congenital myopathies

Martin Rees, Roksana Nikoopour, Atsushi Fukuzawa et al. · Acta Neuropathologica · 2021 · 67 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Treatment of Duchenne muscular dystrophy with ciclosporin A: a randomised, double-blind, placebo-controlled multicentre trial

Janbernd Kirschner, Joachim Schessl, Ulrike Schara et al. · The Lancet Neurology · 2010 · 65 citations

Medicine, Pharmacotherapy, Clinical Pharmacology +3