Birgit Uhlenberg

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

Philippa B. Mills, Eduard A. Struys, Cornelis Jakobs et al. · Nature Medicine · 2006 · 542 citations

Pyridoxine-dependent Seizures, Genetic Disorder, Medicine +3

Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like Disease

Birgit Uhlenberg, Markus Schuelke, Franz Rüschendorf et al. · The American Journal of Human Genetics · 2004 · 271 citations · Full text

Cause Pelizaeus-merzbacher–like Disease, Connexin 46.6, Disease Mechanism +8

Cognitive Functioning, Behavior, and Quality of Life After Stroke in Childhood

Regula Everts, J. Pavlovic, Franz Kaufmann et al. · Child Neuropsychology · 2008 · 144 citations

The mutational spectrum of<i>ENPP1</i>as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI)

Nico Ruf, Birgit Uhlenberg, Robert Terkeltaub et al. · Human Mutation · 2004 · 110 citations · Full text

Vascular Disease, Unrelated Patients, Genetics +16

Leukoencephalopathy with ataxia, hypodontia, and hypomyelination

Nicole I. Wolf, Inga Harting, Eugen Boltshauser et al. · Neurology · 2005 · 79 citations