Novel Presenilin 1 Variant (P117A) Causing Alzheimer’s Disease in the Fourth Decade of Life

Autor Kauwe, John SK, Wang, Jun, Chakraverty, Sumi, Goate, Alison M., Henao-Martinez, Andres F.
Vydáno 2008

TARDBP 3′-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy

Autor Gitcho, Michael A., Bigio, Eileen H., Mishra, Manjari, Johnson, Nancy, Weintraub, Sandra, Mesulam, Marsel, Rademakers, Rosa, Chakraverty, Sumi, Cruchaga, Carlos, Morris, John C., Goate, Alison M., Cairns, Nigel J.
Vydáno 2009

FUS immunogold labelling TEM analysis of the neuronal cytoplasmic inclusions of neuronal intermediate filament inclusion disease: a frontotemporal lobar degeneration with FUS prote...

Autor Page, Tristan, Gitcho, Michael A., Mosaheb, Sabrina, Carter, Deborah, Chakraverty, Sumi, Perry, Robert H., Bigio, Eileen H., Gearing, Marla, Ferrer, Isidre, Goate, Alison M., Cairns, Nigel J., Thorpe, Julian R.
Vydáno 2011

Molecular Characterization of Novel Progranulin (GRN) Mutations in Frontotemporal Dementia

Autor Mukherjee, Odity, Wang, Jun, Gitcho, Michael, Chakraverty, Sumi, Taylor-Reinwald, Lisa, Shears, Shantia, Kauwe, John S.K., Norton, Joanne, Levitch, Denise, Bigio, Eileen H., Hatanpaa, Kimmo J., White, Charles L., Morris, John C., Cairns, Nigel J., Goate, Alison
Vydáno 2008

TDP-43 A315T Mutation in Familial Motor Neuron Disease

Autor Gitcho, Michael A., Baloh, Robert H., Chakraverty, Sumi, Mayo, Kevin, Norton, Joanne B., Levitch, Denise, Hatanpaa, Kimmo J., White, Charles L., Bigio, Eileen H., Caselli, Richard, Baker, Matt, Al-Lozi, Muhammad T., Morris, John C., Pestronk, Alan, Rademakers, Rosa, Goate, Alison M., Cairns, Nigel J.
Vydáno 2008

HDDD2 Is a Familial Frontotemporal Lobar Degeneration with Ubiquitin-Positive, Tau-Negative Inclusions Caused by a Missense Mutation in the Signal Peptide of Progranulin

Autor Mukherjee, Odity, Pastor, Pau, Cairns, Nigel J., Chakraverty, Sumi, Kauwe, John S. K., Shears, Shantia, Behrens, Maria I., Budde, John, Hinrichs, Anthony L., Norton, Joanne, Levitch, Denise, Taylor-Reinwald, Lisa, Gitcho, Michael, Tu, P.-H., Grinberg, Lea Tenenholz, Liscic, Rajka M., Armendariz, Javier, Morris, John C., Goate, Alison M.
Vydáno 2006