Cornelia Kornblum

Antibodies to metabotropic glutamate receptor 5 in the Ophelia syndrome

Eric Lancaster, Eugenia Martínez‐Hernández, Maarten J. Titulaer et al. · Neurology · 2011 · 357 citations · Full text

Life Sciences, Neurology, Neuroscience +14

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 · 254 citations

Life Sciences, Biochemistry, Pharmacotherapy +12

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

Cornelia Kornblum, Thomas J. Nicholls, Tobias B. Haack et al. · Nature Genetics · 2013 · 235 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease

Martina Minnerop, Bernd Weber, Jan‐Christoph Schoene‐Bake et al. · Brain · 2011 · 216 citations · Full text

Medicine, Neurology, Neuroscience +17

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

Sarah L. Stenton, Claudia B. Catarino, N.A. Andreeva et al. · Journal of Clinical Investigation · 2021 · 151 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17