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Spinal muscular atrophy : disease mechanisms and therapy /
"Spinal Muscular Atrophy: Disease Mechanisms and Therapy provides the latest information on a condition that is characterized by motor neuron 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 ha...
| Clasificación: | Libro Electrónico |
|---|---|
| Otros Autores: | , , |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
London :
Academic Press, an imprint of Elsevier,
[2017]
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| Temas: | |
| Acceso en línea: | Texto completo |
MARC
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| 050 | 4 | |a RJ482.A83 | |
| 060 | 0 | 0 | |a 2017 B-488 |
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| 072 | 7 | |a MED |x 033000 |2 bisacsh | |
| 082 | 0 | 4 | |a 618.92748 |2 23 |
| 245 | 0 | 0 | |a Spinal muscular atrophy : |b disease mechanisms and therapy / |c edited by Charlotte J. Sumner, Sergey Paushkin, Chien-Ping Ko. |
| 264 | 1 | |a London : |b Academic Press, an imprint of Elsevier, |c [2017] | |
| 264 | 4 | |c �2017 | |
| 300 | |a 1 online resource (xxxii, 474 pages) : |b illustrations (some color) | ||
| 336 | |a text |b txt |2 rdacontent | ||
| 337 | |a computer |b c |2 rdamedia | ||
| 338 | |a online resource |b cr |2 rdacarrier | ||
| 504 | |a Includes bibliographical references and index. | ||
| 505 | 0 | |a Perspectives. Sixty Years of spinal muscular atrophy: a personal odyssey -- Advances in spinal muscular atrophy research -- From mapping survival motor neuron to treatment of spinal muscular atrophy -- The path to therapeutics development for spinal muscular atrophy -- I. Clinical features and diagnosis of SMA. Spinal muscular atrophy: years later and on the verge of a cure -- Developmental aspects and pathological findings in spinal muscular atrophy -- Standard of care for spinal muscular atrophy -- Strategy for the molecular testing of spinal muscular atrophy -- II. Cellular and molecular mechanisms of the disease. Transcriptional and Splicing Regulation of Spinal Muscular Atrophy Genes -- The Function of Survival Motor Neuron Complex and Its Role in Spinal Muscular Atrophy Pathogenesis -- RNA-Processing Dysfunction in Spinal Muscular Atrophy -- Axonal and Neuromuscular Junction Pathology in Spinal Muscular Atrophy -- Motor Circuit Dysfunction in Spinal Muscular Atrophy -- Contributions of Different Cell Types to Spinal Muscular Atrophy Pathogenesis -- Temporal Requirements for the Survival Motor Neuron Protein -- Spinal Muscular Atrophy Disease Modifiers -- III. Cell and animal SMA models -- Cell culture models of spinal muscular atrophy -- Nonmammalian animal models of spinal muscular atrophy -- Mammalian models of spinal muscular atrophy -- IV. Therapeutic development. Spinal muscular atrophy therapeutics development -- Small molecule approaches to upregulate SMN expression from the SMN2 Locus -- Antisense-oligonucleotide modulation of SMN2 pre-mRNA splicing -- Gene transfer in spinal muscular atrophy -- Neuroprotection as a therapeutic approach for spinal muscular atrophy -- Skeletal muscle in spinal muscular atrophy as an opportunity for therapeutic intervention -- Addressing cell therapy for spinal muscular atrophy: open issues and future perspectives -- | |
| 505 | 8 | |a V. Clinical research. Spinal muscular atrophy motor functional scales and measures of pulmonary function -- Development and testing of biomarkers in spinal muscular atrophy -- Natural history of spinal muscular atrophy -- Spinal muscular atrophy clinical trials: lessons learned -- Appendices.SMA 1 types, summary -- SMN1 and SMN2 copy numbers of commercially available spinal muscular atrophy fibroblast and lymphoblastoid cell lines -- Transacting factors and cis-elements involved in modulation of SMN2 exon7 alternative splicing -- Sequence alignment of the SMN proteins from diverse organisms and list of SMN1 mutations identified in humans -- SMN role in the snRNP assembly -- Select SMN-dependent and SMN-independent modifiers -- Mouse models of SMA and mice used in SMA research -- SMA strains for testing site-specific SMN expression -- Functional scales used in SMA -- Select SMA organizations around the world. | |
| 520 | |a "Spinal Muscular Atrophy: Disease Mechanisms and Therapy provides the latest information on a condition that is characterized by motor neuron 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"--Publisher's description. | ||
| 588 | |a Description based on online resource; title from electronic title page (ProQuest Ebook Central, viewed on February 23, 2021). | ||
| 650 | 0 | |a Spinal muscular atrophy. | |
| 650 | 1 | 2 | |a Muscular Atrophy, Spinal |0 (DNLM)D009134 |
| 650 | 6 | |a Atrophie musculaire progressive. |0 (CaQQLa)201-0260863 | |
| 650 | 7 | |a MEDICAL / Gynecology & Obstetrics |2 bisacsh | |
| 650 | 7 | |a Spinal muscular atrophy. |2 fast |0 (OCoLC)fst01129903 | |
| 700 | 1 | |a Sumner, Charlotte J., |e editor. | |
| 700 | 1 | |a Paushkin, Sergey, |e editor. | |
| 700 | 1 | |a Ko, Chien-Ping, |e editor. | |
| 776 | 0 | 8 | |i Print version: |t Spinal muscular atrophy. |d Amsterdam : Elsevier, Academic Press, [2017] |z 9780128036853 |w (DLC) 2017288336 |w (OCoLC)952982964 |
| 856 | 4 | 0 | |u https://sciencedirect.uam.elogim.com/science/book/9780128036853 |z Texto completo |