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Publications by Lori Hughes

Mutations in a Gene Encoding a Novel Protein Containing a Phosphotyrosine-Binding Domain Cause Type 2 Cerebral Cavernous Malformations

American Journal of Human Genetics

English

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Mutations Within the Programmed Cell Death 10 Gene Cause Cerebral Cavernous Malformations

American Journal of Human Genetics

English

FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations

Molecular Syndromology

English

Structural Studies of Cerebral Cavernous Malformations 2 (CCM2) Reveal a Folded Helical Domain at Its C-Terminus

Molecular Biology

Structural Biology

English

Ccm3, a Gene Associated With Cerebral Cavernous Malformations, Is Required for Neuronal Migration

Development (Cambridge)

Developmental Biology

Molecular Biology

English

Desnutrin, an Adipocyte Gene Encoding a Novel Patatin Domain-Containing Protein, Is Induced by Fasting and Glucocorticoids

Journal of Biological Chemistry

Molecular Biology

English

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations

Frontiers in Neurology

English

Novel KRIT1/CCM1 and MGC4607/CCM2 Gene Variants in Chinese Families With Cerebral Cavernous Malformations

Frontiers in Neurology

English

Multiple Sporadic Cerebral Cavernous Malformations

Arquivos de Neuro-Psiquiatria

Biological Psychiatry

English

A Modular Xylanase Containing a Novel Non-Catalytic Xylan-Specific Binding Domain

Biochemical Journal

Molecular Biology

English