Spinal Muscular Atrophy

Disease Mechanisms and Therapy

Charlotte Sumner, Sergey Paushkin, Chien Ping Ko

Research output: Book/ReportBook

Abstract

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. Provides comprehensive, up-to-date reviews by leading investigators on diverse topics of SMA, including clinical features and patient care, SMN genetics and protein functions, animal models, disease pathology and mechanisms, biomarkers, current therapeutic development, and the role of non-profit organizations in therapeutic development. Written to bridge multiple disciplines and promote better communications among basic scientists, clinical researchers, and health care providers on the latest developments in SMA. Includes outstanding questions and perspectives for future investigations and key references for additional detailed study.

Original languageEnglish (US)
PublisherElsevier Inc.
Number of pages474
ISBN (Electronic)9780128036860
ISBN (Print)9780128036853
StatePublished - Nov 4 2016

Fingerprint

Spinal Muscular Atrophy
Muscular Diseases
Research Personnel
Biomarkers
Nonprofit Organizations
Pathology
Therapeutic Human Experimentation
Patient Advocacy
Therapeutics
Animal Disease Models
Muscular Atrophy
Infant Mortality
Motor Neurons
Standard of Care
Rare Diseases
Health Personnel
Reading
Patient Care
Proteins
Animal Models

ASJC Scopus subject areas

  • Medicine(all)
  • Neuroscience(all)

Cite this

Sumner, C., Paushkin, S., & Ko, C. P. (2016). Spinal Muscular Atrophy: Disease Mechanisms and Therapy. Elsevier Inc.

Spinal Muscular Atrophy : Disease Mechanisms and Therapy. / Sumner, Charlotte; Paushkin, Sergey; Ko, Chien Ping.

Elsevier Inc., 2016. 474 p.

Research output: Book/ReportBook

Sumner, C, Paushkin, S & Ko, CP 2016, Spinal Muscular Atrophy: Disease Mechanisms and Therapy. Elsevier Inc.
Sumner C, Paushkin S, Ko CP. Spinal Muscular Atrophy: Disease Mechanisms and Therapy. Elsevier Inc., 2016. 474 p.
Sumner, Charlotte ; Paushkin, Sergey ; Ko, Chien Ping. / Spinal Muscular Atrophy : Disease Mechanisms and Therapy. Elsevier Inc., 2016. 474 p.
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