News & Publications for:

Carlos Cruchaga

The PSEN1, p.E318G Variant Increases the Risk of Alzheimer’s Disease in APOE-ε4 Carriers

Posted on September 11, 2013

Benitez BA, Karch CM, Cai Y, Jin SC, Cooper B, Carrell D, Bertelsen S, Chibnik L, Schneider JA, Bennett DA, Fagan AM, Holtzman D, Morris JC, Goate AM, Cruchaga C; (2013) PLoS Genetics, 9 (8), art. no. e1003685. Read More

Posted in: Axon Injury & Repair, HPAN, Neurodegeneration, Neurogenetics, Publications Faculty: , , , , ,

Novel progranulin variants do not disrupt progranulin secretion and cleavage

Posted on August 28, 2013

Karch CM, Jeng AT, Skorupa T, Cruchaga C, Goate AM; (2013) Neurobiology of Aging, 34 (11), pp. 2538-2540. Read More

Posted in: Axon Injury & Repair, HPAN, Neurodegeneration, Neurogenetics Faculty: , ,

Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis

Posted on June 26, 2013

Harms, M.B., Cady, J., Zaidman, C., Cooper, P., Bali, T., Allred, P., Cruchaga, C., Baughn, M., Libby, R.T., Pestronk, A., Goate, A., Ravits, J., Baloh, R.H.; (2013) Neurobiology of Aging, 34 (9), pp. 2234.e13-e19. Read More

Posted in: HPAN, Neurogenetics, Publications Faculty: , , ,

C9orf72 hexanucleotide repeat expansions in clinical alzheimer disease

Posted on June 19, 2013

Harms, M., Benitez, B.A., Cairns, N., Cooper, B., Cooper, P., Mayo, K., Carrell, D., Faber, K., Williamson, J.g , Bird, T.h , Diaz-Arrastia, R.i , Foroud, T.M.f , Boeve, B.F.j , Graff-Radford, N.R., Mayeux, R., Chakraverty, S., Goate, A.M., Cruchaga, C.;(2013) JAMA Neurology, 70 (6), pp. 736-741. Read More

Posted in: HPAN, Neurogenetics, Publications Faculty: , , ,