Amy Akers

Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis

Amy Akers, Eric W. Johnson, Gary K. Steinberg et al. · Human Molecular Genetics · 2008 · 284 citations · Full text

Developmental Anomaly, Neuro-oncology, Sporadic Ccm +14

Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations

Robert Shenkar, Changbin Shi, Tania Rebeiz et al. · Genetics in Medicine · 2014 · 159 citations · Full text

Creutzfeldt-jakob Disease, Vascular Malformation, Pathology +7

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

David A. McDonald, Changbin Shi, Robert Shenkar et al. · Human Molecular Genetics · 2014 · 139 citations · Full text

Developmental Anomaly, Neuro-oncology, Ccm Patients +14

A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease

David A. McDonald, Robert Shenkar, Changbin Shi et al. · Human Molecular Genetics · 2010 · 133 citations · Full text

Ccm1 Mouse Model, Vascular Malformation, Pathology +16

Randomized phase 2 trial of NP001, a novel immune regulator

Robert G. Miller, Gilbert Block, Jonathan Katz et al. · Neurology Neuroimmunology & Neuroinflammation · 2015 · 94 citations · Full text