title: [Neurofibromatosis 1: pathogenesis and therapeutic strategies--a systematic review].
abstract: Neurofibromatosis 1 (NF1, von Recklinghausen's disease) is a dominantly inherited multi-organ disease defined primarily by café au lait patches and neurofibromas. NF1 predisposes to cancer and is associated with cognitive dysfunction and learning defects. In recent years, considerable progress has been made in the understanding of NF1 pathogenesis, not least based on studies of genetically engineered animal models. We present an overview of the most important recent findings and the related current efforts to develop novel therapeutic strategies.
authors.affiliation: Institut for Neurovidenskab og Farmakologi, Københavns Universitet, Blegdamsvej 3, 2200 København N, Denmark.
authors.forename: Ole
authors.initials: O
authors.lastname: Kjærulff
authors.forename: Hans
authors.initials: H
authors.lastname: Wandall
mesh_terms: D000818:Animals; D003072:Cognition Disorders / Q000235:genetics; D004195:Disease Models, Animal; D016147:Genes, Tumor Suppressor; D006801:Humans; D009154:Mutation; D018317:Nerve Sheath Neoplasms / Q000235:genetics; D009456:Neurofibromatosis 1 / Q000209:etiology / Q000235:genetics / Q000628:therapy; D025542:Neurofibromin 1 / Q000235:genetics
chemical_list: D025542:Neurofibromin 1