Spinal Muscular Atrophy

Written By Charlotte J Sumner
Spinal Muscular Atrophy
  • Publsiher : Academic Press
  • Release : 24 October 2016
  • ISBN : 0128036869
  • Pages : 506 pages
  • Rating : 4/5 from 21 reviews
GET THIS BOOKSpinal Muscular Atrophy


Read or download book entitled Spinal Muscular Atrophy written by Charlotte J Sumner which was release on 24 October 2016, this book published by Academic Press. Available in PDF, EPUB and Kindle Format. Book excerpt: 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

Spinal Muscular Atrophy

Spinal Muscular Atrophy
  • Author : Charlotte J Sumner,Sergey Paushkin,Chien-Ping Ko
  • Publisher : Academic Press
  • Release Date : 2016-10-24
  • Total pages : 506
  • ISBN : 0128036869
GET BOOK

Summary : 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 ...

It s One of Them

It s One of Them
  • Author : Grace Saunders
  • Publisher : AuthorHouse
  • Release Date : 2014-12-10
  • Total pages : 184
  • ISBN : 0128036869
GET BOOK

Summary : Grace Saunders and her brother Ben were both born with the genetic disorder spinal muscular atrophy type 2/3, SMA. From her happy childhood growing up in Hertfordshire, enduring painful operations, to becoming a mom and a wife living an independent life in Coventry. Her extraordinary story of strength, not only coping ...

Reversing Distal Spinal Muscular Atrophy Type 2

Reversing Distal Spinal Muscular Atrophy Type 2
  • Author : Health Central
  • Publisher : Raw Power
  • Release Date : 2019-10-07
  • Total pages : 74
  • ISBN : 0128036869
GET BOOK

Summary : A truly resourceful and supporting workbook which will help you reach your health goals in a short space of time. A Must Have!...

Health related Quality of Life Among Individuals Living with Spinal Muscular Atrophy

Health related Quality of Life Among Individuals Living with Spinal Muscular Atrophy
  • Author : Connie Dee Lamb
  • Publisher : Unknown
  • Release Date : 2008
  • Total pages : 166
  • ISBN : 0128036869
GET BOOK

Summary : Download or read online Health related Quality of Life Among Individuals Living with Spinal Muscular Atrophy written by Connie Dee Lamb, published by which was released on 2008. Get Health related Quality of Life Among Individuals Living with Spinal Muscular Atrophy Books now! Available in PDF, ePub and Kindle....

Challenges and Breakthroughs

Challenges and Breakthroughs
  • Author : Omotayo Osundiji
  • Publisher : Createspace Independent Publishing Platform
  • Release Date : 2017-05-07
  • Total pages : 102
  • ISBN : 0128036869
GET BOOK

Summary : My experience of surviving childhood-onset chronic physical disability in a developing country includes stories of challenges and breakthroughs. I hope my memoir can improve global awareness of these conditions and shed some light on the associated challenges particularly in communities with very limited resources....

Exercise Intolerance and Muscle Contracture

Exercise Intolerance and Muscle Contracture
  • Author : Georges Serratrice,Jean Pouget,Jean-Philippe Azulay
  • Publisher : Springer Science & Business Media
  • Release Date : 1999-06
  • Total pages : 208
  • ISBN : 0128036869
GET BOOK

Summary : The main themes presented in this volume are exercise intolerance and muscle contracture. These two topics could seem different at first sight but share common clinical features. For instance, symptoms of exercise intolerance are myalgias and cramps but metabolic contractures as well. Likewise exercise intolerance is sometimes due to dystrophinopathy, ...

Neuromuscular Disorders of Infancy Childhood and Adolescence

Neuromuscular Disorders of Infancy  Childhood  and Adolescence
  • Author : H. Royden Jones,Darryl C. De Vivo,Basil T. Darras
  • Publisher : Butterworth-Heinemann
  • Release Date : 2003
  • Total pages : 1323
  • ISBN : 0128036869
GET BOOK

Summary : Written by a panel of world authorities, this comprehensive text is the only book of its kind, covering the full range of neuromuscular diseases seen in children. It explains how childhood neuromuscular diseases differ from those in adult patients, and it provides clinicians with all the knowledge they need to ...

Progressive Spinal Muscular Atrophies

Progressive Spinal Muscular Atrophies
  • Author : Ingrid Gamstorp,Harvey B. Sarnat
  • Publisher : Lippincott Williams & Wilkins
  • Release Date : 1984
  • Total pages : 243
  • ISBN : 0128036869
GET BOOK

Summary : Download or read online Progressive Spinal Muscular Atrophies written by Ingrid Gamstorp,Harvey B. Sarnat, published by Lippincott Williams & Wilkins which was released on 1984. Get Progressive Spinal Muscular Atrophies Books now! Available in PDF, ePub and Kindle....

Spinal Muscular Atrophy New Insights for the Healthcare Professional 2011 Edition

Spinal Muscular Atrophy  New Insights for the Healthcare Professional  2011 Edition
  • Author : Anonim
  • Publisher : ScholarlyEditions
  • Release Date : 2012-01-09
  • Total pages : 20
  • ISBN : 0128036869
GET BOOK

Summary : Spinal Muscular Atrophy: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Spinal Muscular Atrophy in a compact format. The editors have built Spinal Muscular Atrophy: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ ...

Mendelian Inheritance in Man

Mendelian Inheritance in Man
  • Author : Victor A. McKusick
  • Publisher : Unknown
  • Release Date : 1998-06-29
  • Total pages : 3972
  • ISBN : 0128036869
GET BOOK

Summary : The twelfth edition of this classic reference work includes: • More than 2,000 new entries • A total of more than 9,000 entries • New features and enhancement of the familiar old features • Mapping information on more than 4,000 genes of known function • Information on specific point mutations responsible for more than 700 genetic disorders or neoplasms ...

Laughing at My Nightmare

Laughing at My Nightmare
  • Author : Shane Burcaw
  • Publisher : Roaring Brook Press
  • Release Date : 2014-10-14
  • Total pages : 256
  • ISBN : 0128036869
GET BOOK

Summary : With acerbic wit and a hilarious voice, Shane Burcaw's Laughing at My Nightmare describes the challenges he faces as a twenty-one-year-old with spinal muscular atrophy. From awkward handshakes to having a girlfriend and everything in between, Shane handles his situation with humor and a "you-only-live-once" perspective on life. While he ...

Permuted Medical Subject Headings

Permuted Medical Subject Headings
  • Author : National Library of Medicine (U.S.). Medical Subject Headings Section,National Library of Medicine (U.S.)
  • Publisher : Unknown
  • Release Date : 1999
  • Total pages : 212
  • ISBN : 0128036869
GET BOOK

Summary : Download or read online Permuted Medical Subject Headings written by National Library of Medicine (U.S.). Medical Subject Headings Section,National Library of Medicine (U.S.), published by which was released on 1999. Get Permuted Medical Subject Headings Books now! Available in PDF, ePub and Kindle....

Chemical Abstracts

Chemical Abstracts
  • Author : Anonim
  • Publisher : Unknown
  • Release Date : 2021-05-16
  • Total pages : 212
  • ISBN : 0128036869
GET BOOK

Summary : Download or read online Chemical Abstracts written by , published by which was released on . Get Chemical Abstracts Books now! Available in PDF, ePub and Kindle....

Molecular Medicine

Molecular Medicine
  • Author : Anonim
  • Publisher : Unknown
  • Release Date : 1996
  • Total pages : 212
  • ISBN : 0128036869
GET BOOK

Summary : Download or read online Molecular Medicine written by , published by which was released on 1996. Get Molecular Medicine Books now! Available in PDF, ePub and Kindle....

Motor Disorders

Motor Disorders
  • Author : David S. Younger
  • Publisher : Unknown
  • Release Date : 2005
  • Total pages : 747
  • ISBN : 0128036869
GET BOOK

Summary : Updated and expanded for its Second Edition, this volume offers practical guidance in the diagnosis and treatment of motor disorders. The book brings together, in one convenient source, the entire spectrum of motor disorders caused by various etiologies. Seventeen new chapters cover vertigo and vestibular disorders; laryngeal motor disorders; facioscapulohumeral ...