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Publications by Konrad Schwefel
Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations
Frontiers in Neurology
Neurology
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Novel KRIT1/CCM1 and MGC4607/CCM2 Gene Variants in Chinese Families With Cerebral Cavernous Malformations
Frontiers in Neurology
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Conditional Deletion of Ccm2 Causes Hemorrhage in the Adult Brain: A Mouse Model of Human Cerebral Cavernous Malformations
Human Molecular Genetics
Medicine
Genetics
Molecular Biology
Tissue-Specific Conditional CCM2 Knockout Mice Establish the Essential Role of Endothelial CCM2 in Angiogenesis: Implications for Human Cerebral Cavernous Malformations
DMM Disease Models and Mechanisms
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Molecular Biology
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Structural Studies of Cerebral Cavernous Malformations 2 (CCM2) Reveal a Folded Helical Domain at Its C-Terminus
FEBS Letters
Genetics
Cell Biology
Molecular Biology
Biochemistry
Structural Biology
Biophysics
A Founder Mutation in the Ashkenazi Jewish Population Affecting Messenger RNA Splicing of the CCM2 Gene Causes Cerebral Cavernous Malformations
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Multiple Sporadic Cerebral Cavernous Malformations
Arquivos de Neuro-Psiquiatria
Biological Psychiatry
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FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations
Molecular Syndromology
Genetics
Unintentional Drowning Associated With Multiple Cerebral Cavernous Malformations
American Journal of Medical Case Reports
The Natural History of Cerebral Cavernous Malformations in Children
Journal of Neurosurgery: Pediatrics
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