News & Publications for:

Carlos Cruchaga

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: , , ,

Same genes linked to early- and late-onset Alzheimer’s

Posted on February 2, 2012

Next generation sequencing of dementia genes in families touched by Alzheimer’s. Read More

Posted in: HPAN, Neurodegeneration, Neurogenetics, News Faculty: ,

Researchers identify gene for rare dementia

Posted on December 16, 2011

Cruchaga and colleagues identify DNAJC5 variants in Kufs disease, a neurodegenerative disorder in the neuronal ceroid lipofuscinoses (NCL) family. Read More

Posted in: HPAN, Neurodegeneration, Neurogenetics, News, Pilot Projects Faculty: , , ,

Exome-Sequencing Confirms DNAJC5 Mutations as Cause of Adult Neuronal Ceroid-Lipofuscinosis

Posted on November 9, 2011

Benitez BA, Alvarado D, Cai Y, Mayo K, Chakraverty S, Norton J, Morris JC, Sands MS, Goate AM, Cruchaga C (2011). PLoS One, 6(11):e26741 Read More

Posted in: HPAN, Neurodegeneration, Neurogenetics, Pilot Projects, Publications, Therapeutics & Diagnostics Faculty: , ,