Skip to main content

Spinal Muscular Atrophy

In Order to Read Online or Download Spinal Muscular Atrophy Full eBooks in PDF, EPUB, Tuebl and Mobi you need to create a Free account. Get any books you like and read everywhere you want. Fast Download Speed ~ Commercial & Ad Free. We cannot guarantee that every book is in the library!

Spinal Muscular Atrophy

Spinal Muscular Atrophy Book
Author : Charlotte J Sumner,Sergey Paushkin,Chien-Ping Ko
Publisher : Academic Press
Release : 2016-10-24
ISBN : 0128036869
Language : En, Es, Fr & De

GET BOOK

Book 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. 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 New Insights for the Healthcare Professional 2011 Edition

Spinal Muscular Atrophy  New Insights for the Healthcare Professional  2011 Edition Book
Author : Anonim
Publisher : ScholarlyEditions
Release : 2012-01-09
ISBN : 1464913854
Language : En, Es, Fr & De

GET BOOK

Book Description :

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.™ You can expect the information about Spinal Muscular Atrophy in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Spinal Muscular Atrophy: New Insights for the Healthcare Professional: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

Spinal Muscular Atrophy

Spinal Muscular Atrophy Book
Author : Muscular Dystrophy Association
Publisher : Unknown
Release : 1995
ISBN : 0987650XXX
Language : En, Es, Fr & De

GET BOOK

Book Description :

Download Spinal Muscular Atrophy book written by Muscular Dystrophy Association, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

The Role of Muscle and Nerve in Spinal Muscular Atrophy

The Role of Muscle and Nerve in Spinal Muscular Atrophy Book
Author : Chitra C. Iyer
Publisher : Unknown
Release : 2016
ISBN : 0987650XXX
Language : En, Es, Fr & De

GET BOOK

Book Description :

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 disease caused due to deletion or mutation of SMN1 and retention of SMN2. Due to a C to T change in SMN2, the gene produces only small amounts of full-length SMN protein. In SMA patients, the low levels of SMN lead to degeneration of motor neurons and muscle atrophy. Since SMA is characterized by muscle atrophy, blocking of muscle ubiquitin ligases that degrade sarcomeric proteins is a prospective therapy. We deleted two muscle-specific ubiquitin ligases, MAFbx and MuRF1, in severe SMA mice. Deletion of MAFbx did not improve the phenotype or survival of SMA mice, and MuRF1 deletion in the SMA mice turned out to be deleterious. MAFbx and MuRF1 levels are upregulated in the skeletal and cardiac muscle in SMA. We conclude that deletion of muscle ubiquitin ligases in SMA does not improve the phenotype of SMA mice.

Spinal Muscular Atrophy New Insights for the Healthcare Professional 2012 Edition

Spinal Muscular Atrophy  New Insights for the Healthcare Professional  2012 Edition Book
Author : Anonim
Publisher : ScholarlyEditions
Release : 2012-12-10
ISBN : 1464979200
Language : En, Es, Fr & De

GET BOOK

Book Description :

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.™ You can expect the information about Spinal Muscular Atrophy in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Spinal Muscular Atrophy: New Insights for the Healthcare Professional / 2012 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

It s One of Them

It s One of Them  Book
Author : Grace Saunders
Publisher : Unknown
Release : 2014-12-10
ISBN : 9781496997524
Language : En, Es, Fr & De

GET BOOK

Book Description :

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 with a severe physical disability, but being victim to domestic violence. Grace's story also involves drugs, murder, the police investigation that was Operation Ore and the death of her brother, aged thirty. This is a woman's struggle for a normal life, independence, and remarkably, having a healthy baby girl when she was told she would never be able to have children. She coped many years, being a single mother with the help of her family and personal care assistants. She writes about her education, care, and funny stories about the world of Internet dating. She tells her story with, honesty, humor, and heartfelt emotion, Grace shares the highs and lows she has faced and has come out the other side, although a little bruised, stronger than ever, and still smiling. Grace's attitude to the life she has been dealt with is, as she says, "It's One of Them "

Spinal Muscular Atrophy A Patients Journey

Spinal Muscular Atrophy  A Patients Journey Book
Author : Shruti Kumar
Publisher : Unknown
Release : 2017
ISBN : 0987650XXX
Language : En, Es, Fr & De

GET BOOK

Book Description :

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 as multisystem skeletal muscle atrophy. Typically, proximal muscle weakness occurs first, however, once pulmonary musculature is affected, it leads to respiratory compromise and ultimately death. Case Description: We present two cases of SMA Type I, first, of a 6-month-old boy who presented with respiratory failure on a family background of two previous siblings having unfortunately passed away due to the same. The second, of a 4-month-old male infant that presented in clinic with profound hypotonia and feeding concerns, who was then diagnosed with SMA Type I during his admission. Our discussion will include, initial presentation, investigation, diagnosis and management of the cases. In addition, we will discuss the therapeutic benefit of Nusinersen in the aforementioned cases, which has been approved in December 2016 for the treatment of SMA. Conclusion: We present these two cases as albeit, this is a rare degenerative disorder, it is vital to diagnose early and requires prompt multi-disciplinary team management. We would further, like to focus on the impact of Nusinersen, and how it has revolutionised the management of this disease. Topic: Paediatric, Neurologyu200b.

Spinal Muscular Atrophy

Spinal Muscular Atrophy Book
Author : Irena Hausmanowa-Petrusewicz
Publisher : Unknown
Release : 1978
ISBN : 0987650XXX
Language : En, Es, Fr & De

GET BOOK

Book Description :

Download Spinal Muscular Atrophy book written by Irena Hausmanowa-Petrusewicz, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Facts about Spinal Muscular Atrophy

Facts about Spinal Muscular Atrophy Book
Author : Muscular Dystrophy Association
Publisher : Unknown
Release : 1998
ISBN : 0987650XXX
Language : En, Es, Fr & De

GET BOOK

Book Description :

Download Facts about Spinal Muscular Atrophy book written by Muscular Dystrophy Association, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

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

Identification and Characterization of Spinal Muscular Atrophy  SMA  Modifiers   Insights from Cellular and Vertebrate Disease Models Book
Author : Svenja Schneider
Publisher : Unknown
Release : 2018
ISBN : 0987650XXX
Language : En, Es, Fr & De

GET BOOK

Book Description :

Download Identification and Characterization of Spinal Muscular Atrophy SMA Modifiers Insights from Cellular and Vertebrate Disease Models book written by Svenja Schneider, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Molecular Study of Spinal Muscular Atrophy SMA Using Drossophilia Melanogaster

Molecular Study of Spinal Muscular Atrophy  SMA  Using Drossophilia Melanogaster Book
Author : Yick Bun Chan
Publisher : Unknown
Release : 2003
ISBN : 0987650XXX
Language : En, Es, Fr & De

GET BOOK

Book Description :

Download Molecular Study of Spinal Muscular Atrophy SMA Using Drossophilia Melanogaster book written by Yick Bun Chan, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

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 Book
Author : Svenja Schneider
Publisher : Unknown
Release : 2018
ISBN : 0987650XXX
Language : En, Es, Fr & De

GET BOOK

Book Description :

Download Identification and Characterization of Spinal Muscular Atrophy SMA Modifiers Insight from Cellular and Vertebrate Disease Models book written by Svenja Schneider, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Spinal Muscular Atrophy

Spinal Muscular Atrophy Book
Author : Katharina Elisabeth Meijboom
Publisher : Unknown
Release : 2018
ISBN : 0987650XXX
Language : En, Es, Fr & De

GET BOOK

Book Description :

Download Spinal Muscular Atrophy book written by Katharina Elisabeth Meijboom, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Characterization of Cellular Pathways in Spinal Muscular Atrophy

Characterization of Cellular Pathways in Spinal Muscular Atrophy Book
Author : Ferrill Franklin Rose
Publisher : Unknown
Release : 2009
ISBN : 0987650XXX
Language : En, Es, Fr & De

GET BOOK

Book Description :

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 (SMN) protein levels. Currently there is no effective treatment for SMA. The work presented in this thesis characterizes several potential SMA therapeutic targets. Follistatin is a natural antagonist of myostatin and over-expression of follistatin in mouse muscle leads to profound increases in skeletal muscle mass. To determine whether enhanced muscle mass impacts SMA, we administered recombinant follistatin to a SMA mouse model. Treated animals exhibited increased mass in several muscle groups, elevation in the number and cross-sectional area of ventral horn cells, gross motor function improvement, and mean lifespan extension by 30%, by preventing some of the early deaths, as compared to control animals. Reversing muscle atrophy associated with SMA may represent an unexploited therapeutic target for the treatment of SMA. The Wallerian degeneration slow (Wlds) gene is a spontaneous dominant mutation in mice that delays axon degeneration by approximately 2-3 weeks. We set out to examine the effect of Wlds on the phenotype of a mouse model of SMA. We found that Wlds does not alter the SMA phenotype, indicating that Wallerian degeneration does not directly contribute to the pathogenesis of SMA development.

DNA studies in Spinal Muscular Atrophy

DNA studies in Spinal Muscular Atrophy Book
Author : Jan Maarten Cobben
Publisher : Unknown
Release : 1996
ISBN : 9789036706278
Language : En, Es, Fr & De

GET BOOK

Book Description :

Download DNA studies in Spinal Muscular Atrophy book written by Jan Maarten Cobben, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Diagnosis and Management of Spinal Muscular Atrophy Part 1 Recommendations for Diagnosis Rehabilitation Orthopedic and Nutritional Care

Diagnosis and Management of Spinal Muscular Atrophy  Part 1  Recommendations for Diagnosis  Rehabilitation  Orthopedic and Nutritional Care Book
Author : Eugenio Mercuri,Thomas Sejersen,Janbernd Kirschner,Study Group SMA Care Group
Publisher : Unknown
Release : 2018
ISBN : 0987650XXX
Language : En, Es, Fr & De

GET BOOK

Book Description :

Abstract: Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. Its incidence is approximately 1 in 11,000 live births. In 2007, an International Conference on the Standard of Care for SMA published a consensus statement on SMA standard of care that has been widely used throughout the world. Here we report a two-part update of the topics covered in the previous recommendations. In part 1 we present the methods used to achieve these recommendations, and an update on diagnosis, rehabilitation, orthopedic and spinal management; and nutritional, swallowing and gastrointestinal management. Pulmonary management, acute care, other organ involvement, ethical issues, medications, and the impact of new treatments for SMA are discussed in part 2

Molecular Study of Spinal Muscular Atrophy SMA Using Drosophila Melanogaster

Molecular Study of Spinal Muscular Atrophy  SMA  Using Drosophila Melanogaster Book
Author : Y. B. Chan,University of Oxford
Publisher : Unknown
Release : 2003
ISBN : 0987650XXX
Language : En, Es, Fr & De

GET BOOK

Book Description :

Download Molecular Study of Spinal Muscular Atrophy SMA Using Drosophila Melanogaster book written by Y. B. Chan,University of Oxford, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Living with Spinal Muscular Atrophy

Living with Spinal Muscular Atrophy Book
Author : Trina Allen
Publisher : Unknown
Release : 2006-09
ISBN : 9780595414642
Language : En, Es, Fr & De

GET BOOK

Book Description :

"November 3, 2003-April 27, 2004. Our love, our life, our angel. A day by day journey with SMA. Learn about SMA. See how life can change overnight. Feel the courage and strength. And much more"--Subtitles.

Defining the Therapeutic Window in Spinal Muscular Atrophy

Defining the Therapeutic Window in Spinal Muscular Atrophy Book
Author : Kate Lynn Robbins
Publisher : Unknown
Release : 2013
ISBN : 0987650XXX
Language : En, Es, Fr & De

GET BOOK

Book Description :

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 means to rescue the SMA phenotype in SMA mice, either by intravenous (IV) or intracerebroventricular (ICV) administration at very early time points. We have recently shown that ICV delivery of scAAV9- SMN is more effective than a similar dose of vector administered via an IV injection, thereby providing an important mechanism to examine a timeline for ameliorating the disease and determining the optimal therapeutic window. SMN[delta]7 mice were injected with scAAV9-SMN vector via ICV injection on a single day, from P2 through P8. At each delivery point from P2 through P7, scAAV9-SMN decreased disease severity, ranging from a near complete rescue (P2) to a significant, albeit lesser degree (P7) in which animals lived ~130% longer. Our study demonstrates that a maximal benefit is obtained when treatment is delivered during a specified therapeutic window of the pre-symptomatic stages of SMA in the SMN[delta]7 mouse model. Although disease severity can be significantly decreased when SMN levels are increased at later stages of the disease, there is a time (after postnatal day 8) at which therapy is no longer effective.

Pediatric Neurology Part III

Pediatric Neurology Part III Book
Author : Louis Viollet,Judith Melki
Publisher : Elsevier Inc. Chapters
Release : 2013-04-24
ISBN : 0128084111
Language : En, Es, Fr & De

GET BOOK

Book Description :

Spinal muscular atrophies (SMA) are genetic disorders characterized by degeneration of lower motor neurons. The most frequent form is caused by mutations of the survival motor neuron 1 gene (SMN1). The identification of this gene greatly improved diagnostic testing and family-planning options of SMA families. SMN plays a key role in metabolism of RNA. However, the link between RNA metabolism and motor neuron degeneration remains unknown. A defect in mRNA processing likely generates either a loss of function of some critical RNA or abnormal transcripts with toxic property for motor neurons. Mutations of SMN in various organisms highlighted an essential role of SMN in motor axon and neuromuscular junction development or maintenance. The quality of life of patients has greatly improved over recent decades through the improvement of care and management of patients. In addition, major advances in translational research have been made in the field of SMA. Various therapeutic strategies have been successfully developed aiming at acting on SMN2, a partially functional copy of the SMN1 gene which remains present in patients. Drugs have been identified and some are already at preclinical stages. Identifying molecules involved in the SMA degenerative process should represent additional attractive targets for therapeutics in SMA.