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
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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
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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 ...

Spinal Muscular Atrophy

Spinal Muscular Atrophy
  • Author : Marc-Olivier Deguise
  • Publisher : Unknown
  • Release Date : 2020
  • Total pages : 212
  • ISBN : 0128036869
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Summary : Spinal muscular atrophy (SMA) is a devastating recessive neurological disorder thought to be affecting primarily the motor neurons. As such, paralysis, motor weakness and death ensue. While SMA is most commonly seen in infants and children, it can span all ages. Its genetic etiology revolves around the homozygous deletion or ...

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
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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.™ ...

Spinal Muscular Atrophy

Spinal Muscular Atrophy
  • Author : Bernard L. Maria
  • Publisher : Unknown
  • Release Date : 2007
  • Total pages : 127
  • ISBN : 0128036869
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Summary : Download or read online Spinal Muscular Atrophy written by Bernard L. Maria, published by which was released on 2007. Get Spinal Muscular Atrophy Books now! Available in PDF, ePub and Kindle....

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
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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 ...

Spinal Muscular Atrophy New Insights for the Healthcare Professional 2012 Edition

Spinal Muscular Atrophy  New Insights for the Healthcare Professional  2012 Edition
  • Author : Anonim
  • Publisher : ScholarlyEditions
  • Release Date : 2012-12-10
  • Total pages : 30
  • ISBN : 0128036869
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Summary : Spinal Muscular Atrophy: New Insights for the Healthcare Professional / 2012 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 / 2012 Edition on the vast information databases of ScholarlyNews.™ ...

Spinal Muscular Atrophy A Patients Journey

Spinal Muscular Atrophy  A Patients Journey
  • Author : Shruti Kumar
  • Publisher : Unknown
  • Release Date : 2017
  • Total pages : 212
  • ISBN : 0128036869
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Summary : Spinal Muscular Atrophy Background: Spinal Muscular Atrophy (SMA) is a rare, autosomal recessive, progressive, neurodegenerative disorder due to a genetic defect in SMN1 which, codes for the SMN protein- vital for motor neuron function. Subsequently, this leads to loss of anterior horn cell function in the spinal cord which manifests ...

Spinal Muscular Atrophy

Spinal Muscular Atrophy
  • Author : Irena Hausmanowa-Petrusewicz
  • Publisher : Unknown
  • Release Date : 1978
  • Total pages : 179
  • ISBN : 0128036869
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Summary : Download or read online Spinal Muscular Atrophy written by Irena Hausmanowa-Petrusewicz, published by which was released on 1978. Get Spinal Muscular Atrophy Books now! Available in PDF, ePub and Kindle....

The Role of Muscle and Nerve in Spinal Muscular Atrophy

The Role of Muscle and Nerve in Spinal Muscular Atrophy
  • Author : Chitra C. Iyer
  • Publisher : Unknown
  • Release Date : 2016
  • Total pages : 193
  • ISBN : 0128036869
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Summary : Spinal Muscular Atrophy (SMA) is the leading genetic cause of infant death, affecting approximately 1 in 10,000 live births worldwide. SMA is caused due to decrease in levels of the ubiquitous Survival Motor Neuron (SMN) protein. SMN in humans is encoded by two genes SMN1 and SMN2. SMA is an autosomal recessive ...

Spinal Muscular Atrophy

Spinal Muscular Atrophy
  • Author : Deborah J. Nowak
  • Publisher : Unknown
  • Release Date : 1995
  • Total pages : 64
  • ISBN : 0128036869
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Summary : "Spinal Muscular Atrophy (SMA) is one of many neuromuscular diseases affecting motor neurons and skeletal muscles. This disorder causes deterioration of the motor neurons (specifically the Anterior Horn Cells of the spinal cord). These motor neurons that control muscles are selectively destroyed resulting in varying degrees of atrophy, weakness and ...

Molecular Study of Spinal Muscular Atrophy SMA Using Drossophilia Melanogaster

Molecular Study of Spinal Muscular Atrophy  SMA  Using Drossophilia Melanogaster
  • Author : Yick Bun Chan
  • Publisher : Unknown
  • Release Date : 2003
  • Total pages : 304
  • ISBN : 0128036869
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Summary : Download or read online Molecular Study of Spinal Muscular Atrophy SMA Using Drossophilia Melanogaster written by Yick Bun Chan, published by which was released on 2003. Get Molecular Study of Spinal Muscular Atrophy SMA Using Drossophilia Melanogaster Books now! Available in PDF, ePub and Kindle....

Characterization of Cellular Pathways in Spinal Muscular Atrophy

Characterization of Cellular Pathways in Spinal Muscular Atrophy
  • Author : Ferrill Franklin Rose
  • Publisher : Unknown
  • Release Date : 2009
  • Total pages : 121
  • ISBN : 0128036869
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Summary : Spinal Muscular Atrophy (SMA) is an autosomal recessive genetic disease, and is the leading genetic cause of death in infants. SMA is a severe neuromuscular disease characterized by loss of spinal [alpha]-motor neurons, resulting in the paralysis of skeletal muscle. SMA is caused by deficiency of Survival Motor Neuron (...

Exploring Modifiers in Spinal Muscular Atrophy

Exploring Modifiers in Spinal Muscular Atrophy
  • Author : Jolill Ross
  • Publisher : Unknown
  • Release Date : 2014
  • Total pages : 66
  • ISBN : 0128036869
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Summary : Spinal Muscular Atrophy (SMA) is the second most common autosomal recessive disorder. The rate of new occurring cases is 1 in 6,000, with a carrier frequency of 1 in 35. SMA is characterized by the loss of Survival Motor Neuron 1 (SMN1) gene, resulting in the degeneration of motor neurons located in the spinal cord, ...

Defining the Therapeutic Window in Spinal Muscular Atrophy

Defining the Therapeutic Window in Spinal Muscular Atrophy
  • Author : Kate Lynn Robbins
  • Publisher : Unknown
  • Release Date : 2013
  • Total pages : 66
  • ISBN : 0128036869
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Summary : Spinal muscular atrophy (SMA) is caused by the loss of a single gene, survival motor neuron-1 (SMN1), which results in the rapid deterioration of motor neuron integrity and function, most often leading to infantile death. Administration of self complementary adeno-associated virus expressing full-length SMN cDNA (scAAV-SMN) has proven an effective ...

Identification and Characterization of Spinal Muscular Atrophy SMA Modifiers Insight from Cellular and Vertebrate Disease Models

Identification and Characterization of Spinal Muscular Atrophy  SMA  Modifiers   Insight from Cellular and Vertebrate Disease Models
  • Author : Svenja Schneider
  • Publisher : Unknown
  • Release Date : 2018
  • Total pages : 212
  • ISBN : 0128036869
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Summary : Download or read online Identification and Characterization of Spinal Muscular Atrophy SMA Modifiers Insight from Cellular and Vertebrate Disease Models written by Svenja Schneider, published by which was released on 2018. Get Identification and Characterization of Spinal Muscular Atrophy SMA Modifiers Insight from Cellular and Vertebrate Disease Models Books now! Available ...