The Dendritic Hypothesis for Alzheimer’s Disease Pathophysiology

Por Cochran, J. Nicholas, Hall, Alicia M., Roberson, Erik D.
Publicado em 2013

The Alzheimer's disease risk factor CD2AP maintains blood–brain barrier integrity

Por Cochran, J. Nicholas, Rush, Travis, Buckingham, Susan C., Roberson, Erik D.
Publicado no Hum Mol Genet (2015)

Amyloid-β signals through tau to drive ectopic neuronal cell cycle re-entry in Alzheimer's disease

Por Seward, Matthew E., Swanson, Eric, Norambuena, Andrés, Reimann, Anja, Cochran, J. Nicholas, Li, Rong, Roberson, Erik D., Bloom, George S.
Publicado em 2013

AlphaScreen HTS and Live Cell Bioluminescence Resonance Energy Transfer (BRET) Assays for Identification of Tau–Fyn SH3 Interaction Inhibitors for Alzheimer’s Disease

Por Cochran, J. Nicholas, Diggs, Pauleatha V., Nebane, N. Miranda, Rasmussen, Lynn, White, E. Lucile, Bostwick, Robert, Maddry, Joseph A., Suto, Mark J., Roberson, Erik D.
Publicado no J Biomol Screen (2014)

Clinical, Imaging, Pathological, and Biochemical Characterization of a Novel Presenilin 1 Mutation (N135Y) Causing Alzheimer's Disease

Por Love, Marissa Natelson, Clark, David G., Cochran, J. Nicholas, Den Beste, Kyle A., Geldmacher, David S., Benzinger, Tammie L., Gordon, Brian A., Morris, John C., Bateman, Randall J., Roberson, Erik D.
Publicado no Neurobiol Aging (2016)

Therapeutic Response in Feline Sandhoff Disease Despite Immunity to Intracranial Gene Therapy

Por Bradbury, Allison M, Cochran, J Nicholas, McCurdy, Victoria J, Johnson, Aime K, Brunson, Brandon L, Gray-Edwards, Heather, Leroy, Stanley G, Hwang, Misako, Randle, Ashley N, Jackson, Laura S, Morrison, Nancy E, Baek, Rena C, Seyfried, Thomas N, Cheng, Seng H, Cox, Nancy R, Baker, Henry J, Cachón-González, M Begona, Cox, Timothy M, Sena-Esteves, Miguel, Martin, Douglas R
Publicado em 2013

Genomic diagnosis for children with intellectual disability and/or developmental delay

Por Bowling, Kevin M., Thompson, Michelle L., Amaral, Michelle D., Finnila, Candice R., Hiatt, Susan M., Engel, Krysta L., Cochran, J. Nicholas, Brothers, Kyle B., East, Kelly M., Gray, David E., Kelley, Whitley V., Lamb, Neil E., Lose, Edward J., Rich, Carla A., Simmons, Shirley, Whittle, Jana S., Weaver, Benjamin T., Nesmith, Amy S., Myers, Richard M., Barsh, Gregory S., Bebin, E. Martina, Cooper, Gregory M.
Publicado no Genome Med (2017)

Systematic reanalysis of genomic data improves quality of variant interpretation

Por Hiatt, Susan M., Amaral, Michelle D., Bowling, Kevin M., Finnila, Candice R., Thompson, Michelle L., Gray, David E., Lawlor, James M.J., Cochran, J. Nicholas, Bebin, E. Martina, Brothers, Kyle B., East, Kelly M., Kelley, Whitley V., Lamb, Neil E., Levy, Shawn E., Lose, Edward J., Neu, Matthew B., Rich, Carla A., Simmons, Shirley, Myers, Richard M., Barsh, Gregory S., Cooper, Gregory M.
Publicado no Clin Genet (2018)

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

Por Carvill, Gemma L., Engel, Krysta L., Ramamurthy, Aishwarya, Cochran, J. Nicholas, Roovers, Jolien, Stamberger, Hannah, Lim, Nicholas, Schneider, Amy L., Hollingsworth, Georgie, Holder, Dylan H., Regan, Brigid M., Lawlor, James, Lagae, Lieven, Ceulemans, Berten, Bebin, E. Martina, Nguyen, John, Barsh, Gregory S., Weckhuysen, Sarah, Meisler, Miriam, Berkovic, Samuel F., De Jonghe, Peter, Scheffer, Ingrid E., Myers, Richard M., Cooper, Gregory M., Mefford, Heather C.
Publicado no Am J Hum Genet (2018)

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

Por Snijders Blok, Lot, Hiatt, Susan M., Bowling, Kevin M., Prokop, Jeremy W., Engel, Krysta L., Cochran, J. Nicholas, Bebin, E. Martina, Bijlsma, Emilia K., Ruivenkamp, Claudia A. L., Terhal, Paulien, Simon, Marleen E. H., Smith, Rosemarie, Hurst, Jane A., McLaughlin, Heather, Person, Richard, Crunk, Amy, Wangler, Michael F., Streff, Haley, Symonds, Joseph D., Zuberi, Sameer M., Elliott, Katherine S., Sanders, Victoria R., Masunga, Abigail, Hopkin, Robert J., Dubbs, Holly A., Ortiz-Gonzalez, Xilma R., Pfundt, Rolph, Brunner, Han G., Fisher, Simon E., Kleefstra, Tjitske, Cooper, Gregory M.
Publicado no Hum Genet (2018)