Spinal muscular atrophy : disease mechanisms and therapy /: disease mechanisms and therapy. ([2017])
- Record Type:
- Book
- Title:
- Spinal muscular atrophy : disease mechanisms and therapy /: disease mechanisms and therapy. ([2017])
- Main Title:
- Spinal muscular atrophy : disease mechanisms and therapy
- Further Information:
- Note: Edited by Charlotte J. Sumner, Sergey Paushkin, Chien-Ping Ko.
- Editors:
- Sumner, Charlotte J
Paushkin, Sergey
Ko, Chien-Ping - Contents:
- Section I. Clinical Features and Diagnosis of SMA 1. Spinal Muscular Atrophy: 125 Years Later and on the Verge of a Cure 2. Developmental Aspects and Pathological findings in SMA 3. Standard of Care for Spinal Muscular Atrophy 4. Strategy for the Molecular Testing of Spinal Muscular Atrophy Section II. Cellular and Molecular Mechanisms of the Disease 5. Transcriptional and Splicing Regulation of Spinal Muscular Atrophy Genes 6. The Function of SMN Complex and its Role in SMA Pathogenesis 7. RNA Processing Dysfunction in Spinal Muscular Atrophy 8. Axonal and Neuromuscular Junction Pathology in SMA 9. Motor Circuit Dysfunction in SMA 10. Contributions of Different Cell Types to Spinal Muscular Atrophy Pathogenesis 11. Temporal Requirements for the SMN Protein 12. SMA Disease Modifiers Section III. Cell and Animal SMA Models 13. Cell Culture Models of Spinal Muscular Atrophy 14. Non-Mammalian Animal Models of SMA 15. Mammalian Models of Spinal Muscular Atrophy Section IV. Therapeutic Development 16. SMA Therapeutics Development 17. Small Molecule Approaches to Upregulate SMN Expression from the SMN2 Locus 18. Antisense-Oligonucleotide Modulation of SMN2 pre-mRNA Splicing 19. Gene Transfer in Spinal Muscular Atrophy 20. Neuroprotection as a Therapeutic Approach for SMA 21. Skeletal Muscle Involvement in SMA 22. Addressing Cell Therapy for SMA: Open Issues and Future Perspectives Section V. Clinical Research 23. Motor Functional Scales 24. SMA Biomarkers 25. Natural HistorySection I. Clinical Features and Diagnosis of SMA 1. Spinal Muscular Atrophy: 125 Years Later and on the Verge of a Cure 2. Developmental Aspects and Pathological findings in SMA 3. Standard of Care for Spinal Muscular Atrophy 4. Strategy for the Molecular Testing of Spinal Muscular Atrophy Section II. Cellular and Molecular Mechanisms of the Disease 5. Transcriptional and Splicing Regulation of Spinal Muscular Atrophy Genes 6. The Function of SMN Complex and its Role in SMA Pathogenesis 7. RNA Processing Dysfunction in Spinal Muscular Atrophy 8. Axonal and Neuromuscular Junction Pathology in SMA 9. Motor Circuit Dysfunction in SMA 10. Contributions of Different Cell Types to Spinal Muscular Atrophy Pathogenesis 11. Temporal Requirements for the SMN Protein 12. SMA Disease Modifiers Section III. Cell and Animal SMA Models 13. Cell Culture Models of Spinal Muscular Atrophy 14. Non-Mammalian Animal Models of SMA 15. Mammalian Models of Spinal Muscular Atrophy Section IV. Therapeutic Development 16. SMA Therapeutics Development 17. Small Molecule Approaches to Upregulate SMN Expression from the SMN2 Locus 18. Antisense-Oligonucleotide Modulation of SMN2 pre-mRNA Splicing 19. Gene Transfer in Spinal Muscular Atrophy 20. Neuroprotection as a Therapeutic Approach for SMA 21. Skeletal Muscle Involvement in SMA 22. Addressing Cell Therapy for SMA: Open Issues and Future Perspectives Section V. Clinical Research 23. Motor Functional Scales 24. SMA Biomarkers 25. Natural History Studies in Type I and Type II/III Patients 26. Spinal Muscular Atrophy Clinical Trials: Lessons Learned … (more)
- Publisher Details:
- London : Academic Press, an imprint of Elsevier
- Publication Date:
- 2017
- Copyright Date:
- 2017
- Extent:
- 1 online resource
- Subjects:
- 618.92748
Spinal muscular atrophy
MEDICAL / Gynecology & Obstetrics
Electronic books - Languages:
- English
- ISBNs:
- 9780128036860
0128036869 - Related ISBNs:
- 9780128036853
0128036850 - Notes:
- Note: Includes bibliographical references and index.
Note: Print version record. - Access Rights:
- Legal Deposit; Only available on premises controlled by the deposit library and to one user at any one time; The Legal Deposit Libraries (Non-Print Works) Regulations (UK).
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- British Library HMNTS - ELD.DS.99228
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