Day: 6 September 2020

Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotypeNeuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype

John P.Snow GrantWestlake Lindsay K.Klofas SoyounJeon Laura C.Armstrong Kathryn J.Swoboda Alfred L.GeorgeJr Kevin C.Ess https://doi.org/10.1016/j.nbd.2020.104881 Highlights iPSCs and isogenic corrected controls were generated from an AHC patient harboring a heterozygous

Alternating Hemiplegia of Childhood: gastrointestinal manifestations and correlation with neurological impairmentsAlternating Hemiplegia of Childhood: gastrointestinal manifestations and correlation with neurological impairments

Milton Pratt,  Julie Uchitel,  Nancy McGreal,  Kelly Gordon,  Lyndsey Prange,  Melissa McLean,  Richard J. Noel,  Blaire Rikard,  Mary K. Rogers Boruta &  Mohamad A. Mikati  Orphanet Journal of Rare Diseases volume 15, Article number: 231 (2020)