Mary-Alice Abbott to Neurodevelopmental Disorders
This is a "connection" page, showing publications Mary-Alice Abbott has written about Neurodevelopmental Disorders.
Connection Strength
0.546
-
Chacon-Millan P, Delicato A, Mahmood A, Tirozzi A, Monfregola J, Duroure K, Serafini M, Kroll F, El-Hage O, Salah S, Atawneh OM, Atik T, Durmusalioglu EA, Isik E, Almontashiri NAM, Tabarki B, Kanaan M, Rabie G, Torella A, Spampanato C, Battaglia DI, Begemann A, Steindl K, Rauch A, Zweier M, Hajianpour M, Brigatti KW, Alhashem A, Maroofian R, Feigerlova E, Lambert L, Feillet F, Abbott MA, D'Alessio AM, Gonzaga-Jauregui C, Tawk M, De Matteis MA, Del Bene F, Zollino M, Nigro V, Venditti R, Franco B, Morleo M. Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking. Am J Hum Genet. 2026 Mar 05; 113(3):562-581.
Score: 0.225
-
Morava E, Schatz UA, Torring PM, Abbott MA, Baumann M, Brasch-Andersen C, Chevalier N, Dunkhase-Heinl U, Fleger M, Haack TB, Nelson S, Potelle S, Radenkovic S, Bommer GT, Van Schaftingen E, Veiga-da-Cunha M. Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder. Am J Hum Genet. 2021 06 03; 108(6):1151-1160.
Score: 0.162
-
Hüffmeier U, Kraus C, Reuter MS, Uebe S, Abbott MA, Ahmed SA, Rawson KL, Barr E, Li H, Bruel AL, Faivre L, Tran Mau-Them F, Botti C, Brooks S, Burns K, Ward DI, Dutra-Clarke M, Martinez-Agosto JA, Lee H, Nelson SF, Zacher P, Abou Jamra R, Klöckner C, McGaughran J, Kohlhase J, Schuhmann S, Moran E, Pappas J, Raas-Rothschild A, Sacoto MJG, Henderson LB, Palculict TB, Mullegama SV, Zghal Elloumi H, Reich A, Schrier Vergano SA, Wahl E, Reis A, Zweier C. EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum. Orphanet J Rare Dis. 2021 03 18; 16(1):136.
Score: 0.160