A founder mutation in the Ashkenazi Jewish population affecting mRNA splicing of the CCM2 gene is associated with Cerebral Cavernous Malformations: Ashkenazi Jewish founder mutatio...

Por Gallione, Carol J., Solatycki, Ann, Awad, Issam A., Weber, James L., Marchuk, Douglas A.
Publicado em 2011

Loss of p53 Sensitizes Mice with a Mutation in Ccm1 (KRIT1) to Development of Cerebral Vascular Malformations

Por Plummer, Nicholas W., Gallione, Carol J., Srinivasan, Sudha, Zawistowski, Jon S., Louis, David N., Marchuk, Douglas A.
Publicado em 2004

Natural Genetic Variation of Integrin Alpha L (Itgal) Modulates Ischemic Brain Injury in Stroke

Por Keum, Sehoon, Lee, Han Kyu, Chu, Pei-Lun, Kan, Matthew J., Huang, Min-Nung, Gallione, Carol J., Gunn, Michael D., Lo, Donald C., Marchuk, Douglas A.
Publicado em 2013

Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ

Por Shirley, Matthew D., Tang, Hao, Gallione, Carol J., Baugher, Joseph D., Frelin, Laurence P., Cohen, Bernard, North, Paula E., Marchuk, Douglas A., Comi, Anne M., Pevsner, Jonathan
Publicado em 2013

Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis

Por McDonald, David A., Shi, Changbin, Shenkar, Robert, Gallione, Carol J., Akers, Amy L., Li, Stephanie, De Castro, Nicholas, Berg, Michel J., Corcoran, David L., Awad, Issam A., Marchuk, Douglas A.
Publicado em 2014

RhoA Kinase Inhibition With Fasudil Versus Simvastatin in Murine Models of Cerebral Cavernous Malformations

Por Shenkar, Robert, Shi, Changbin, Austin, Cecilia, Moore, Thomas, Lightle, Rhonda, Cao, Ying, Zhang, Lingjiao, Wu, Meijing, Zeineddine, Hussein A., Girard, Romuald, McDonald, David A., Rorrer, Autumn, Gallione, Carol, Pytel, Peter, Liao, James K., Marchuk, Douglas A., Awad, Issam A.
Publicado no Stroke (2016)

EXCEPTIONAL AGGRESSIVENESS OF CEREBRAL CAVERNOUS MALFORMATION DISEASE ASSOCIATED WITH PDCD10 MUTATIONS

Por Shenkar, Robert, Shi, Changbin, Rebeiz, Tania, Stockton, Rebecca A., McDonald, David A., Mikati, Abdul Ghani, Zhang, Lingjiao, Austin, Cecilia, Akers, Amy L., Gallione, Carol J., Rorrer, Autumn, Gunel, Murat, Min, Wang, De Souza, Jorge Marcondes, Lee, Connie, Marchuk, Douglas A., Awad, Issam A.
Publicado no Genet Med (2014)

Micro-Computed Tomography in Murine Models of Cerebral Cavernous Malformations as a Paradigm for Brain Disease

Por Girard, Romuald, Zeineddine, Hussein A., Orsbon, Courtney, Tan, Huan, Moore, Thomas, Hobson, Nick, Shenkar, Robert, Lightle, Rhonda, Shi, Changbin, Fam, Maged D., Cao, Ying, Shen, Le, Neander, April I., Rorrer, Autumn, Gallione, Carol, Tang, Alan T., Kahn, Mark L., Marchuk, Douglas A., Luo, Zhe-Xi, Awad, Issam A.
Publicado no J Neurosci Methods (2016)