Bernhard Weschke
Publications by Year
Research Areas
Tuberous Sclerosis Complex Research, Epilepsy research and treatment, Metabolism and Genetic Disorders, Polyomavirus and related diseases, RNA regulation and disease
Most-Cited Works
- → Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection(2006)670 cited
- → Mutations in antiquitin in individuals with pyridoxine-dependent seizures(2006)545 cited
- → Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder(2010)411 cited
- → Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like Disease(2004)272 cited
- → Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial(2020)248 cited
- → Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis(2010)232 cited
- → Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes(2008)159 cited
- → Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients(2016)148 cited
- → Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy(2018)88 cited
- → TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study(2020)88 cited