Esther M. Maier

Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency

Stefan Kölker, Sven F. Garbade, Cheryl R. Greenberg et al. · Pediatric Research · 2006 · 266 citations · Full text

Nutrition, Metabolic Disorder, Pediatric Hematology +8

Monogenic variants in dystonia: an exome-wide sequencing study

Michael Zech, Robert Jech, Sylvia Boesch et al. · The Lancet Neurology · 2020 · 206 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +3

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I

Inga Harting, Eva Neumaier‐Probst, Angelika Seitz et al. · Brain · 2009 · 173 citations

Use of guidelines improves the neurological outcome in glutaric aciduria type I

Jana Herınger, S. P. Nikolas Boy, Regina Ensenauer et al. · Annals of Neurology · 2010 · 168 citations

Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia

Michael Zech, Sylvia Boesch, Esther M. Maier et al. · The American Journal of Human Genetics · 2016 · 160 citations · Full text

Epigenetic Change, Genetics, Degenerative Disease +4