Neural cell recognition molecule L1: relating biological complexity to human disease mutations S Kenwrick, A Watkins, ED Angelis Human molecular genetics 9 (6), 879-886, 2000 | 348 | 2000 |
Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression E De Angelis, A Watkins, M Schäfer, T Brümmendorf, S Kenwrick Human molecular genetics 11 (1), 1-12, 2002 | 131 | 2002 |
Most missense mutations in neural cell adhesion molecule L1 affect intracellular trafficking or ligand binding. E De Angelis, A Watkins, T Brummendorf, S Kenwrick AMERICAN JOURNAL OF HUMAN GENETICS 69 (4), 360-360, 2001 | | 2001 |
The effect of mutations on the function of the neural cell adhesion molecule L1 A Watkins University of Cambridge, 2001 | | 2001 |
Pathological missense mutations affecting neural cell adhesion molecule L1 disrupt binding to different ligands. SJ Kenwrick, E De Angelis, A Watkins, G Yeo, FG Rathjen, ... AMERICAN JOURNAL OF HUMAN GENETICS 65 (4), A303-A303, 1999 | | 1999 |
Functional analysis of mutations in the L1 gene that cause neurological disease in man. E De Angelis, A Watkins, JS Du, J MacFarlane, G Yeo, R Hicks, ... FASEB JOURNAL 13 (7), A1332-A1332, 1999 | | 1999 |