Titre : | Spinal muscular atrophy : Disease mechanisms and therapy |
Auteurs : | Summer CJ, Auteur ; Paushkin S ; Ko CP |
Type de document : | Livre |
Editeur : | Elsevier, 2017 |
ISBN/ISSN/EAN : | 978-0-12-803685-5 |
Pages : | 474 p |
Langues: | Anglais |
Thème : | 20500 (MNM-Mal.du motoneurone : ASI, SMA) |
Mots-clés : | amyotrophie spinale ; diagnostic ; tableau clinique |
Résumé : | Spinal Muscular Atrophy (SMA), characterized by motoneuron loss and muscle atrophy, 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 basic understanding of disease mechanisms as well as in therapeutic development. Spinal Muscular Atrophy: Disease Mechanisms and Therapy is a comprehensive reading of recent advances in basic and clinical research. The book covers SMA clinical features and standards of care, multifaceted aspects of SMN protein functions and SMA disease pathology, various animal models, biomarkers, as well as current therapeutic development for the disease. |
Documents numériques (1)
https://drive.google.com/file/d/0B4wCxOzddXxIY3JVTG9XUzYyWnM/view URL |