Pearls & Oy-sters: Familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency
Gerarda Cappuccio(Telethon Institute Of Genetics And Medicine), Ennio Del Giudice(Federico II University Hospital), Alessandra D’Amico(Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico), Francesco Salvatore(Federico II University Hospital), Roberta Maia de Castro Romanelli(Universidade Federal de Minas Gerais), Barbara Carotenuto(University of Naples Federico II), Giancarlo Parenti(European School of Molecular Medicine), Carla Cozzolino(SDN Istituto di Ricerca Diagnostica e Nucleare), Giulia Frisso(SDN Istituto di Ricerca Diagnostica e Nucleare)
Cited by 10
Related Papers
The Multiple Sulfatase Deficiency Gene Encodes an Essential and Limiting Factor for the Activity of Sulfatases
|Cell|2003|367
The Spice Sage and Its Active Ingredient Rosmarinic Acid Protect PC12 Cells from Amyloid-β Peptide-Induced Neurotoxicity
|Journal of Pharmacology and Experimental Therapeutics|2006|236
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
|Nature Communications|2020|219
The Molecular Hallmarks of the Serrated Pathway in Colorectal Cancer
|Cancers|2019|205