Spinal Muscular Atrophy: Disease Mechanisms and Therapy (2017) (PDF) Charlotte J. Sumner

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Spinal Muscular Atrophy: Disease Mechanisms and Therapy (2017) (PDF) Charlotte J. Sumner

Basic Information:

  • Year: 2017
  • Page Number: 506
  • File Type: PDF
  • File Size: 14.07 MB
  • Authors/ Editiors: Charlotte J. Sumner

Description:

Spinal Muscular Atrophy: Disease Mechanisms and Therapy provides the latest information on a condition that is characterized by motoneuron loss and muscle atrophy, and is the leading genetic cause of infant mortality. Since the identification of the gene responsible for SMA in 1995, there have been important advances in the basic understanding of disease mechanisms, and in therapeutic development.

This book provides a comprehensive accounting of recent advances in basic and clinical research that covers SMA clinical features and standards of care, multifaceted aspects of SMN protein functions and SMA disease pathology, various animal models, and biomarkers, as well as current therapeutic development.

This title is ideal for graduate students/postdocs and principal investigators who are already in the SMA field and need to keep updated on recent findings and approaches, and for those who are new to, or would like to join, the field. Likewise, users will find an excellent source of reading for biotech/pharma scientists, clinical researchers, and practitioners, regulators, and patients and their advocacy organizations. Furthermore, this book is a handy reference for researchers and clinicians who may want to apply the research strategies and therapeutic approaches in SMA to other rare diseases.

User’s Review:

“This comprehensive, state-of-the-art textbook, covering all aspects of SMA, is very timely and should provide a springboard for further efforts and advances in the future.” –Victor Dubowitz, M.D., Ph.D., Emeritus Professor of Paediatrics, University of London, London, UK

“This book is written by experts who contribute to major progress in the fields of SMA from the clinical features, molecular mechanisms, animal models, therapeutic developments to clinical trials. I have no doubt that this book will become an indispensable resource for clinicians and scientists having the goal to cure SMA.” — Judith Melki, M.D., Ph.D., Professor of Medical Genetics, Medicine Faculty, University of Paris 11; Inserm and University of Paris 11, U-788, Kremlin-Bicetre Hospital, Paris, France

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