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| Nuottamo ME, Häppölä P, Artto V, et al. (2022) is a novel candidate gene for migraine-epilepsy phenotype. Cephalalgia : An International Journal of Headache. 3331024211068065 |
| Bott LC, Forouhan M, Lieto M, et al. (2021) Variants in cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy. Brain Communications. 3: fcab245 |
| Courage C, Oliver KL, Park EJ, et al. (2021) Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes. American Journal of Human Genetics. 108: 722-738 |
| Sierra-Torre V, Plaza-Zabala A, Bonifazi P, et al. (2020) Microglial phagocytosis dysfunction in the dentate gyrus is related to local neuronal activity in a genetic model of epilepsy. Epilepsia |
| Knuutinen O, Pyle A, Suo-Palosaari M, et al. (2020) Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype. Clinical Genetics. 98: 493-498 |
| Nevanlinna V, Konovalova S, Ceulemans B, et al. (2020) A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome. European Journal of Medical Genetics. 63: 103766 |
| Muir AM, Myers CT, Nguyen NT, et al. (2019) Genetic heterogeneity in infantile spasms. Epilepsy Research. 156: 106181 |
| Jabbari K, Bobbili DR, Lal D, et al. (2018) Rare gene deletions in genetic generalized and Rolandic epilepsies. Plos One. 13: e0202022 |
| Smith RS, Kenny CJ, Ganesh V, et al. (2018) Sodium Channel SCN3A (Na1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development. Neuron |
| May P, Girard S, Harrer M, et al. (2018) Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study. The Lancet. Neurology. 17: 699-708 |