Neurogenetics for the Practitioner

Pastores, Gregory M.

  • 出版商: Academic Press
  • 出版日期: 2024-04-26
  • 售價: $5,040
  • 貴賓價: 9.5$4,788
  • 語言: 英文
  • 頁數: 350
  • 裝訂: Quality Paper - also called trade paper
  • ISBN: 0323994172
  • ISBN-13: 9780323994170
  • 海外代購書籍(需單獨結帳)

商品描述

Neurogenetics is a growing field, providing a clear link between clinical characteristics of phenotypes and exact molecular tests to reach a specific diagnosis. Neurogenetics for the Practitioner provides clinicians with a navigation tool to help diagnose and treat patients with neurological disorders using neurogenetics. The first section introduces the reader to an overview of genetic principles, including practical applications in relation to diagnosis and current limitations. Additional chapters highlight how to workup patients presenting with certain features including cerebral palsy/intellectual disability, congenital muscular dystrophy, cognitive decline/dementia, peripheral neuropathy, and paroxysmal disorder. The final section explores therapeutic strategies based on genetic interventions and genetic counselling options. Internationally contributed, this book will become the essential reference guide for neurologist.

商品描述(中文翻譯)

神經遺傳學是一個不斷發展的領域,提供了臨床特徵和確定分子檢測之間的明確聯繫,以達到具體診斷的目的。《神經遺傳學實踐指南》為臨床醫生提供了一個導航工具,以利用神經遺傳學來診斷和治療神經系統疾病的患者。第一部分介紹了遺傳原理的概述,包括與診斷和目前限制相關的實際應用。其他章節重點介紹了如何對表現出特定特徵的患者進行檢查,包括腦性麻痺/智力障礙、先天性肌肉萎縮症、認知衰退/失智症、周邊神經病變和發作性疾病。最後一部分探討了基於基因干預和基因輔導選擇的治療策略。這本國際貢獻的書將成為神經科醫生的必備參考指南。