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Principles and Practice of the Muscular Dystrophies: Current Clinical Neurology

Editat de Pushpa Narayanaswami, Teerin Liewluck
en Limba Engleză Hardback – 17 feb 2024
The field of muscular dystrophies has expanded significantly with the discovery of the genetic defects and protein products underlying these disorders. New treatments such as antisense oligonucleotides and siRNAs and gene therapies are now in clinical application and in trials. As clinical trials increase, outcome measurement becomes very important, and more validated tools are being developed.
 
This book provides a comprehensive review of these disorders. Clinical features, diagnostic testing including genetic testing of these disorders, the basis and utility of genetic testing, and the basis of genetic therapies are all covered in detail.
 
This book will provide neuromuscular neurologists, general neurologists, and neuromuscular fellows with a much needed update in the field.
 

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Specificații

ISBN-13: 9783031440083
ISBN-10: 3031440080
Pagini: 348
Ilustrații: XIV, 348 p. 117 illus., 84 illus. in color.
Dimensiuni: 210 x 279 mm
Greutate: 1.2 kg
Ediția:1st ed. 2023
Editura: Springer International Publishing
Colecția Humana
Seria Current Clinical Neurology

Locul publicării:Cham, Switzerland

Cuprins

An Introduction to the Muscular Dystrophies.- Dystrophinopathies.- Myotonic dystrophies.- Facioscapulohumeral Muscular Dystrophy.- Autosomal Dominant Limb-Girdle Muscular Dystrophies.- Autosomal recessive limb-girdle muscular dystrophy.- Oculopharyngeal Muscular Dystrophy.- Distal Muscular Dystrophies.- GNE MYOPATHY.- Emery-Dreifuss Muscular Dystrophies.- Congenital muscular dystrophies.- Myopathies with myofibrillar pathology.- Oculopharyngodistal myopathy.- Genetic Diagnosis and Counseling in Muscular Dystrophies.- Muscle Imaging in Muscular Dystrophies.- The Role of The Muscle Biopsy in The Era of Genetic Diagnosis.- Systemic Complications of Muscular Dystrophies.- Molecular Genetic Therapies in the Muscular Dystrophies.- Physical therapy, bracing and surgical treatment in muscular dystrophies.- Trial Design and Outcome Measurement in Muscular Dystrophies.

Notă biografică

Pushpa Narayanaswami, MD
Associate Professor of Neurology, Harvard Medical School
Vice- Chair, Clinical Operations
Department of Neurology
Beth Israel Deaconess Medical Center
Neuroloy TCC-8, BIDMC
330 Brookline Avenue
Boston MA 02215
 
Teerin Liewluck, MD, FAAN 
Consultant, Division of  Neuromuscular Medicine and Muscle Laboratory , Department of Neurology
Associate Professor of Neurology,
Mayo Clinic College of Medicine
200 First Street SW
Rochester, MN 55905


Textul de pe ultima copertă

The field of muscular dystrophies has expanded significantly with the discovery of the genetic defects and protein products underlying these disorders. New treatments such as antisense oligonucleotides and siRNAs and gene therapies are now in clinical application and in trials. As clinical trials increase, outcome measurement becomes very important, and more validated tools are being developed.

This book provides a comprehensive review of these disorders. Clinical features, diagnostic testing including genetic testing of these disorders, the basis and utility of genetic testing, and the basis of genetic therapies are all covered in detail.


This book will provide neuromuscular neurologists, general neurologists, and neuromuscular fellows with a much needed update in the field.

Caracteristici

Offers a comprehensive overview of muscular dystrophies Features the latest diagnostic tools and treatments Authored by experts