Eva M. Reinthaler
Medical University of Vienna(AT)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Epilepsy research and treatment, Genomic variations and chromosomal abnormalities, Neuroscience and Neuropharmacology Research
Most-Cited Works
- → A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease(2011)898 cited
- → Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes(2013)437 cited
- → Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A(2013)196 cited
- → RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy(2013)117 cited
- → DEPDC5 mutations in genetic focal epilepsies of childhood(2014)113 cited
- → Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies(2015)101 cited
- → Association of transcription factor polymorphisms PITX3 and EN1 with Parkinson's disease(2009)88 cited
- → Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2(2013)84 cited
- → Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease(2019)80 cited
- → 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy(2014)69 cited