Expanding genotype–phenotype correlations in FOXG1 syndrome: results from a patient registry by Elise Brimble, Kathryn G. Reyes, Kopika Kuhathaas, Orrin Devinsky, Maura R. Z. Ruzhnikov, Xilma R. Ortiz-Gonzalez, Ingrid Scheffer, Nadia Bahi-Buisson, Heather Olson, the FOXG1 Research Foundation

Get full text

Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-S... by Margaret A Gustafson, Elizabeth M McCormick, Lalith Perera, Matthew J Longley, Renkui Bai, Jianping Kong, Matthew Dulik, Lishuang Shen, Amy C Goldstein, Shana E McCormack, Benjamin L Laskin, Bart P Leroy, Xilma R Ortiz-Gonzalez, Meredith G Ellington, William C Copeland, Marni J Falk

Get full text

Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy by Joseph T. Shieh, Jesus A. Tintos-Hernandez, Chaya N. Murali, Monica Penon-Portmann, Marco Flores-Mendez, Adrian Santana, Joshua A. Bulos, Kang Du, Lucie Dupuis, Nadirah Damseh, Roberto Mendoza-Londoño, Camilla Berera, Julieann C. Lee, Joanna J. Phillips, César A.P.F. Alves, Ivan J. Dmochowski, Xilma R. Ortiz-González

Get full text