A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.

by Isabelle Schrauwen, Szabolcs Szelinger, Ashley L Siniard, Ahmet Kurdoglu, Jason J Corneveaux, Ivana Malenica, Ryan Richholt, Guy Van Camp, Matt De Both, Shanker Swaminathan, Mari Turk, Keri Ramsey, David W Craig, Vinodh Narayanan, Matthew J Huentelman
Published 2015-01-01

Analysis of copy number variation in Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.

by Shanker Swaminathan, Matthew J Huentelman, Jason J Corneveaux, Amanda J Myers, Kelley M Faber, Tatiana Foroud, Richard Mayeux, Li Shen, Sungeun Kim, Mari Turk, John Hardy, Eric M Reiman, Andrew J Saykin, Alzheimer's Disease Neuroimaging Initiative and NIA-LOAD/NCRAD Family Study Group
Published 2012-01-01