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050			_aRC935 _b.M96 2018 EB
082	0	4	_a616.8 _223
245	1	0	_aMyotonic Dystrophy [ _hRecurso electrónico] :] _bDisease Mechanism, Current Management and Therapeutic Development / _cedited by Masanori P. Takahashi, Tsuyoshi Matsumura
260			_aSingapore _bSpringer Singapore : _bImprint: Springer, _c2018
300			_aVIII, 214 p. 58 il., 42 il. col
336			_atext _btxt [ _2rdacontent.]
337			_acomputer _bc [ _2rdamedia.]
338			_aonline resource _bcr [ _2rdacarrier.]
490	0		_aSpringer eBooks
505	0		_aGenetics of myotonic dystrophy (including cDM and DM2) -- Basic Molecular pathomechanism -- Clinical features in skeletal muscle and their underlying molecular mechanism -- Clinical features in heart and their underlying molecular mechanism -- Clinical features of central nervous system -- Pathological changes in DM brain -- Molecular defect in DM central nervous system -- Respiratory feature in DM -- Glucose intolerance in DM -- Lipid metabolism in DM -- Dysphagia in DM -- DM patient-derived iPS cells -- Therapeutic development in DM
520			_aThis book provides an essential overview combining both clinical and fundamental research advances in myotonic dystrophy. The pathomechanism of myotonic dystrophy has long been unclear, but in the past decade, our understanding has shifted to a novel disease mechanism concept: zRNA diseasey. Parallel to these advances in elucidating the pathophysiology, translational research is also progressing rapidly. The current challenge lies in assessing the effectiveness of treatment, and as such, there is a growing interest in observational studies of the disease's various clinical symptoms. The book introduces readers to the molecular mechanisms within each organ and the resultant clinical features, which are presented together. In particular, it focuses on the central nervous system, since the pathology of the brain (central nervous system manifestation) has rarely been addressed systematically and will pose a persistent challenge, even if therapies have greatly advanced in the future. In addition, the book addresses the latest developments, such as research using patient-derived iPS cells and therapeutic research. Myotonic Dystrophy provides essential information for neurologists and researchers with an interest in muscle disease, including muscular dystrophy. Furthermore, since the disease involves various complications of the brain, heart, metabolism, etc., the book will be of great value to clinicians and researchers in the cardiovascular sciences, endocrinology, diabetes, dementia, and neuropsychology, as well as genetic specialists
538			_aForma de acceso: World Wide Web
700	1		_aTakahashi, Masanori P, _eeditor
700	1		_aMatsumura, Tsuyoshi, _eeditor
710	2		_aSpringerLink
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-981-13-0508-5 _zAcceso a este recurso digital (usuarios Universidad Europea de Valencia)
942			_2lcc _cLE
998			_db