000			02597nam a22004695i 4500
001			u371509
003			SIRSI
005			20160812080132.0
007			cr nn 008mamaa
008			100623s2010 xxu| s |||| 0|eng d
020			_a9781441958051 _9978-1-4419-5805-1
040			_cMX-MeUAM
050		4	_aRB155-155.8
050		4	_aQH431
082	0	4	_a611.01816 _223
082	0	4	_a599.935 _223
100	1		_aTassone, Flora. _eeditor.
245	1	4	_aThe Fragile X-Associated Tremor Ataxia Syndrome (FXTAS) _h[recurso electrónico] / _cedited by Flora Tassone, Elizabeth M. Berry-Kravis.
264		1	_aNew York, NY : _bSpringer New York : _bImprint: Springer, _c2010.
300			_aXVI, 188 p. _bonline resource.
336			_atext _btxt _2rdacontent
337			_acomputer _bc _2rdamedia
338			_aonline resource _bcr _2rdacarrier
347			_atext file _bPDF _2rda
505	0		_aClinical Neurological Phenotype of FXTAS -- The Epidemiology of FXTAS -- FXTAS: Neuropsychological/Neuropsychiatric Phenotypes -- Radiological Findings in FXTAS -- The Pathology of FXTAS -- The Molecular Biology of FXTAS -- Genotype/Phenotype Relationships in FXTAS -- Animal Models for FXTAS -- Treatment and Management of FXTAS -- Genetic Counseling for FXTAS and FMR1-Associated Disorders.
520			_aIn The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS), the editors present information on all aspects of FXTAS, including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed. The book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments.
650		0	_aMedicine.
650		0	_aHuman genetics.
650		0	_aNeurosciences.
650	1	4	_aBiomedicine.
650	2	4	_aHuman Genetics.
650	2	4	_aMolecular Medicine.
650	2	4	_aNeurosciences.
700	1		_aBerry-Kravis, Elizabeth M. _eeditor.
710	2		_aSpringerLink (Online service)
773	0		_tSpringer eBooks
776	0	8	_iPrinted edition: _z9781441958044
856	4	0	_zLibro electrónico _uhttp://148.231.10.114:2048/login?url=http://link.springer.com/book/10.1007/978-1-4419-5805-1
596			_a19
942			_cLIBRO_ELEC
999			_c199389 _d199389