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Spinal Muscular Atrophy

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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

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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

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

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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.

It s One of Them

It s One of Them  Book
Author : Grace Saunders
Publisher : AuthorHouse
Release : 2014-12-10
ISBN : 1496997549
Language : En, Es, Fr & De

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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!”

Reversing Distal Spinal Muscular Atrophy Type 2

Reversing Distal Spinal Muscular Atrophy Type 2 Book
Author : Health Central
Publisher : Raw Power
Release : 2019-10-07
ISBN : 9781395696047
Language : En, Es, Fr & De

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Book Description :

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

Permuted Medical Subject Headings

Permuted Medical Subject Headings Book
Author : National Library of Medicine (U.S.)
Publisher : Unknown
Release : 2001
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Permuted Medical Subject Headings book written by National Library of Medicine (U.S.), available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Challenges and Breakthroughs

Challenges and Breakthroughs Book
Author : Omotayo Osundiji
Publisher : Createspace Independent Publishing Platform
Release : 2017-05-07
ISBN : 9781546565734
Language : En, Es, Fr & De

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Book Description :

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.

Cumulated Index Medicus

Cumulated Index Medicus Book
Author : Anonim
Publisher : Unknown
Release : 2000
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Cumulated Index Medicus book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Medical Subject Headings

Medical Subject Headings Book
Author : National Library of Medicine (U.S.)
Publisher : Unknown
Release : 2000
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Medical Subject Headings book written by National Library of Medicine (U.S.), available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Progressive Spinal Muscular Atrophies

Progressive Spinal Muscular Atrophies Book
Author : Ingrid Gamstorp,Harvey B. Sarnat
Publisher : Lippincott Williams & Wilkins
Release : 1984
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Progressive Spinal Muscular Atrophies book written by Ingrid Gamstorp,Harvey B. Sarnat, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Neuromuscular Disorders of Infancy Childhood and Adolescence

Neuromuscular Disorders of Infancy  Childhood  and Adolescence Book
Author : H. Royden Jones,Darryl C. De Vivo,Basil T. Darras
Publisher : Butterworth-Heinemann
Release : 2003
ISBN : 9780750671903
Language : En, Es, Fr & De

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Book Description :

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 successfully diagnose and treat their pediatric patients. Only paediatric neuromuscular disease book available Provides exposure to the experience and knowledge of world authorities Discusses the entire range of paediatric neuromuscular disorders

Mendelian Inheritance in Man

Mendelian Inheritance in Man Book
Author : Victor A. McKusick
Publisher : Unknown
Release : 1998-06-29
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

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 Mendelian Inheritance in Man (MIM) is a genetic knowledgebase that serves clinical medicine and biomedical research, including the Human Genome Project. It aims to be comprehensive (not only complete, but also collated, integrated, and interpreted), authoritative (not only accurate but also sound in its interpretations and judgements), and timely (not only up-to-date but also historically dimensioned). From a review of the eleventh edition, Reproductive Toxicology: "Even the convenience of computer-based forms of MIM cannot eliminate the need for MIM in book form. The preface provides a wonderful synopsis of human genetics. The information contained in this text serves as a concise review for those with a genetics background." From a review of the tenth edition, New England Journal of Medicine: "[Victor McKusick] has been for all these years the shepherd of the development of the field [of clinical genetics]. Perhaps his most important pragmatic achievement has been the 10 editions of Mendelian Inheritance in Man, which rapidly became and has remained the principal source of information on inherited diseases for all clinical geneticists. "In addition to the erudite entries in the books, the references given with each description represent a magnificent bibliography of clinical genetics. With McKusick's leadership and continued interest in gene mapping, the book also rep-resents an important compen-dium of the location of genes on specific chromosomes. "The book is a magnificent security blanket for the clinical geneticist and should be in the libraries not only of these specialists, but also of all others who see patients with diseases that have genetic components."

Laughing at My Nightmare

Laughing at My Nightmare Book
Author : Shane Burcaw
Publisher : Roaring Brook Press
Release : 2014-10-14
ISBN : 1626720088
Language : En, Es, Fr & De

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Book Description :

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 does talk about everyday issues that are relatable to teens, he also offers an eye-opening perspective on what it is like to have a life threatening disease.

Exercise Intolerance and Muscle Contracture

Exercise Intolerance and Muscle Contracture Book
Author : Georges Serratrice,Jean Pouget,Jean-Philippe Azulay
Publisher : Springer Science & Business Media
Release : 1999-06
ISBN : 9782287596698
Language : En, Es, Fr & De

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Book Description :

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, it self causing contractures. Therefore, it is justified to gather these two syn dromes in one study. Exercise intolerance and muscle contracture could seem well known, even obsolete. It is not right. A reappraisal of these has be come necessary for two reasons. First of all there are many new causes of exercise intolerance; secondly, the pathophysiology remains ob scure in particular for muscle contracture and a clear classification is probably possible. There is no book devoted to exercise intolerance and muscle contrac ture. This volume is divided in two parts related to the above topics. The two sections are introduced by a didactic and general overview, describ ing the main symptoms, classification and classical etiology. The other chapters, written by the best experts, present the recent advances in these syndromes and show many new aspects: new glycogenosis or mitochondriopathies, dystrophinopathies, malignant hyperthermia, my otonic disorders. Pathophysiology and classification of persistent con tractures are described as well as therapy. Each chapter is thoroughly referenced, representing important progress in research in the field.

Chemical Abstracts

Chemical Abstracts Book
Author : Anonim
Publisher : Unknown
Release : 2021-04-13
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Chemical Abstracts book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Molecular Medicine

Molecular Medicine Book
Author : Anonim
Publisher : Unknown
Release : 1996
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Molecular Medicine book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Motor Disorders

Motor Disorders Book
Author : David S. Younger
Publisher : Unknown
Release : 2005
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

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 muscular dystrophy; myalgia, fibromyalgia, fasciculation, and cramps; plexus disorders; entrapment neuropathies; the diabetic neuropathies; Guillain-Barr� syndrome; rupture of an intervertebral disc and related spinal disorders; vitamin B12 (cobalamin) deficiency; adult normal pressure hydrocephalus; motor aspects of stroke; motor sequelae of dementia; motor sequelae of epilepsy; central nervous system vasculitis; traumatic brain injury; and motor disorders associated with cerebral palsy.

A N

A N Book
Author : Anonim
Publisher : Unknown
Release : 2003
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download A N book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Genetics and Neurology

Genetics and Neurology Book
Author : Sarah Bundey,Edward M. Brett
Publisher : Unknown
Release : 1992
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Offering guidance to clinical geneticists and neurologists about the mode of inheritance and genetic counselling risks for neurological conditions, this text groups subjects together under such headings as the muscular dystrophies, phakomatoses, peripheral neuropathies, and dementias.