Nenad Blau

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency

J. Steyaert, G. Matthijs, R. Wevers, 2005, Journal of Neurology, Neurosurgery & Psychiatry.

Child Neurology: Paroxysmal stiffening, upward gaze, and hypotonia

N. Blau, B. Thöny, M. Wagner, 2012, Neurology.

Clinical Chemistry 47:3 477–485 (2001) Molecular Diagnostics and Genetics Diagnosis of Dopa-responsive Dystonia and Other Tetrahydrobiopterin Disorders by the Study of Biopterin Metabolism in Fibroblasts

N. Blau, B. Thöny, L. Bonafė, 2022 .

Treatable neurotransmitter deficiency in mild phenylketonuria

N. Blau, A. Romstad, F. Güttler, 2001, Neurology.