Rumiko Takayama
National Hospital Organization Hokkaido Medical Center(JP)
Publications by Year
Research Areas
Epilepsy research and treatment, Pharmacological Effects and Toxicity Studies, Neuroscience and Neuropharmacology Research, Lysosomal Storage Disorders Research, Metabolism and Genetic Disorders
Most-Cited Works
- → Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study(2016)213 cited
- → PIGA mutations cause early-onset epileptic encephalopathies and distinctive features(2014)104 cited
- → Long‐term course of Dravet syndrome: A study from an epilepsy center in Japan(2014)83 cited
- → Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy(2011)82 cited
- → Retrospective multiinstitutional study of the prevalence of early death in Dravet syndrome(2011)79 cited
- → Mortality in Dravet syndrome: Search for risk factors in Japanese patients(2011)72 cited
- → CDKL5 alterations lead to early epileptic encephalopathy in both genders(2011)69 cited
- → Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy(2019)68 cited
- → Influence of CYP2C19 Polymorphism and Concomitant Antiepileptic Drugs on Serum Clobazam and N-Desmethyl Clobazam Concentrations in Patients With Epilepsy(2013)55 cited
- → Rufinamide as an adjunctive therapy for Lennox–Gastaut syndrome: A randomized double-blind placebo-controlled trial in Japan(2014)53 cited