Johann Penzien

Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia

Luisa Bonafé, Beat Thöny, Johann Penzien et al. · The American Journal of Human Genetics · 2001 · 237 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy

Jennifer Friedman, Emmanuel Roze, José E. Abdenur et al. · Annals of Neurology · 2011 · 155 citations

Medicine, Neurology, Neuroscience +11

Natalizumab Therapy for Highly Active Pediatric Multiple Sclerosis

Barbara Kornek, Fahmy Aboul‐Enein, Kevin Rostásy et al. · JAMA Neurology · 2013 · 90 citations

Pharmacy, Neurology, Pediatrics +16

Congenital Disorder of Glycosylation IId (CDG-IId) - A New Entity: Clinical Presentation with Dandy-Walker Malformation and Myopathy

Verena Peters, Johann Penzien, Gert Reiter et al. · Neuropediatrics · 2002 · 72 citations

Life Sciences, Biochemistry, Pediatrics +14

Successful treatment of anti-N-methyl-D-aspartate receptor encephalitis presenting with catatonia

Mareike Schimmel, Christian G. Bien, Angela Vincent et al. · Archives of Disease in Childhood · 2009 · 72 citations · Full text

Medicine, Neurology, Neuroscience +15