"Neurofibromatosis Type 1: Clinical and Basic Aspects" ed. by Juichiro Nakayama, Yuichi Yoshida

This book examines the fundamental, clinical, and basic aspects of neurofibromatosis type 1 (NF1) over three sections and nine chapters. Topics addressed include bone lesions in children with NF1, diffuse neurofibromatous tissue, seizures in adults with NF1, Ras-GAP function of neurofibromin, endocrine disorders characteristic of NF1, and more.

Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a major monogenic neurocutaneous disorder. The NF1 gene encodes the protein neurofibromin whose dysfunction promotes tumorigenesis in central and peripheral neuronal tissues. In addition to inducing the formation of cutaneous pigmented lesions or neurofibromas, NF1 affects multiple organ systems, resulting in neurological and psychiatric disorders, orthopedic conditions, and impaired endocrine functions.

Contents
1. Toward a More Comprehensive Understanding of Neurofibromatosis Type 1
2. Bone Lesions in Children with Neurofibromatosis
3. Characterisation of a Novel Radiological Entity in Neurofibromatosis Type 1 - Diffuse Neurofibromatous Tissue
4. Seizures in Adult with Neurofibromatosis Type 1
5. Endocrine Conditions in Neurofibromatosis 1
6. Clarifying the Pathophysiological Mechanisms of Neuronal Abnormalities of NF1 by Induced-Neuronal (iN) Cells from Human Fibroblasts
7. Alternative Splicing of Neurofibromatosis Type 1 Exon 23a Modulates Ras/ERK Signaling and Learning Behaviors in Mice
8. Two Tails for Neurofibromin: A Tale of Two Microtubule-Associated Proteins
9. Metabolic Features of Neurofibromatosis Type 1-Associated Tumors


More : You find here