Thomas Opladen

Autoantibodies to Folate Receptors in the Cerebral Folate Deficiency Syndrome

V. Ramaekers, Sheldon P. Rothenberg, Jeffrey M. Sequeira et al. · New England Journal of Medicine · 2005 · 279 citations · Full text

Membrane-bound Folate Receptors, Medicine, Cerebrospinal Fluid +12

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

Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers

Niccolò E. Mencacci, Ioannis U. Isaias, Martin M. Reich et al. · Brain · 2014 · 194 citations · Full text

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

Yair Anikster, Tobias B. Haack, Thierry Vilboux et al. · The American Journal of Human Genetics · 2017 · 149 citations · Full text

Genome Instability, Biallelic Mutations, Mendelian Disorder +8

An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia

Thomas Opladen, Georg F. Hoffmann, Nenad Blau · Journal of Inherited Metabolic Disease · 2012 · 133 citations