000			02770nam a22003015i 4500
001			402988
003			ES-MaUEC
005			20240528105948.0
007			cr nn 008mamaa
008			240216s2023 sz | o |||| 0|eng d
020			_a9783031440090
024	7		_a10.1007/978-3-031-44009-0 _2doi
040			_aES-MaUEC _bspa _cES-MaUEC _dES-MaUEC
050		4	_aRC346-429.2 _b2023 EB
245	0	0	_aPrinciples and Practice of the Muscular Dystrophies _cedited by Pushpa Narayanaswami, Teerin Liewluck
250			_a1st ed. 2023
264		1	_aCham _bSpringer International Publishing _c2023
300			_a1 recurso en línea
336			_atexto _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
490	0		_aCurrent Clinical Neurology _x2524-4043
505	0		_aAn 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.
520			_aThe 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.
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-3-031-44009-0 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942			_2lcc _cLE
988			_aSpringer_Medicine_2023
999			_c402988 _d402988