Title | Journal | Journal Categories | Citations | Publication Date |
---|---|---|---|---|
Genetic neurological channelopathies: molecular genetics and clinical phenotypes | Journal of Neurology, Neurosurgery & Psychiatry |
| 21 | 2016 |
A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis. | Neurology |
| 2016 | |
A Tale of 2 Diseases | Journal of the American College of Cardiology |
| 36 | 2016 |
KCNT1mutations in seizure disorders: the phenotypic spectrum and functional effects | Journal of Medical Genetics |
| 76 | 2016 |
Kidney CLC-K chloride channels inhibitors: structure-based studies and efficacy in hypertension and associated CLC-K polymorphisms. | Journal of Hypertension |
| 2016 |
Title | Journal | Journal Categories | Citations | Publication Date |
---|---|---|---|---|
When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population | American Journal of Medical Genetics Part A |
| 2024 | |
Novel insights into the role of ion channels in cellular DNA damage response | Mutation Research - Reviews in Mutation Research |
| 2024 | |
Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias | Trends in Neurosciences |
| 2024 | |
Management of diabetes mellitus patients with sickle cell anemia: Challenges and therapeutic approaches | Medicine |
| 2024 | |
Machine learning models reveal distinct disease subgroups and improve diagnostic and prognostic accuracy for individuals with pathogenic SCN8A gain-of-function variants | Biology Open |
| 1 | 2024 |