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 · 283 citations · Full text

Public Health, Neurology, Neuroscience +14

Monogenic variants in dystonia: an exome-wide sequencing study

Michael Zech, Robert Jech, Sylvia Boesch et al. · The Lancet Neurology · 2020 · 214 citations · Full text

Life Sciences, Genetics, Neurology +14

Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers

Niccolò E. Mencacci, Ioannis U. Isaias, Martin M. Reich et al. · Brain · 2014 · 200 citations · Full text

Medicine, Neurology, Neuroscience +17

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 · 155 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia

Thomas Opladen, Georg F. Hoffmann, Nenad Blau · Journal of Inherited Metabolic Disease · 2012 · 136 citations

Life Sciences, Biochemistry, Clinical Biochemistry +2