000			03517nam a22003735i 4500
988			_aSpringer_Medicine_2015
999			_c82373 _d82373 _x1
001			82373
003			ES-MaUEC
005			20230207040409.0
007			cr nn 008mamaa
008			150513s2015 gw | s |||| 0|eng d
020			_a9783319172231
024	7		_a10.1007/978-3-319-17223-1 _2doi
040			_dES-MaUEC
050		4	_aRC376.5 _b2015 EB
245	1	0	_aMovement Disorder Genetics _cedited by Susanne A. Schneider, José M. Tomás Brás
260			_aCham, Switzerland _bSpringer _c2015
300			_a1 recurso en línea (XIV, 530 páginas) _b24 ilustraciones, 18 ilustraciones en color
336			_aTexto _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
505	0		_aGenetics of Mendelian Forms of Parkinson´s disease -- Genetics of Parkinson´s disease -- Genetics of Atypical Parkinsonism -- Genetics of Dementia with Lewy Bodies -- Genetics of Frontotemporal Dementia -- Genetics of Primary Tremor Disorders -- Genetics of Dystonia -- Genetic Choreas -- Genetics of Tourette Syndrome -- Genetics of Paroxysmal Dyskinesia -- Genetics of Dominant Ataxias -- Genetics of Recessive Ataxias -- Genetics of NBIA Disorders -- Genetics of Metal Disorders (Excluding NBIA) -- Genetics of Restless Legs Syndrome (RLS) -- Genetics of Hereditary Spastic Paraplegias (HSP) -- Genetics of ALS -- Genetics of Mitochondrial Disease with Focus on Movement Disorders -- Introduction to Genetics and Genetic Counseling for Clinicians -- Genetic Testing - An Industrial Perspective -- Direct-to-Consumer DNA Genetic and Genomic Testing -- Current Ethical Issues Related to the Implementation of Whole Exome and Whole Genome Sequencing -- Implications for Health and Life Insurances and Other Legal Aspects of Genetic Testing.
520	3		_aThis book covers recent developments and possible pitfalls in the diagnosis of genetic movement disorders and related conditions. It is divided into three sections: technical and scientific aspects; clinical aspects with guidance towards work-up; and ethical and legal aspects of genetic testing in a clinical and research setting. The first section includes chapters on genetic analysis and counselling with critical discussion of potential problems when interpreting the results. Clinical chapters summarize genetic forms of movement disorders including parkinsonism, tics and dystonia with algorithms for hands-on daily practice. Related conditions such as RLS, ataxias and dementias are also covered. Finally, chapters on ethical and legal aspects of genetic testing are included. Movement Disorder Genetics is aimed at clinicians and scientists working in the field of movement disorders and related conditions
650		7	_aGenética humana _2embne _9140562
650	2	7	_aGenética humana _2embne _9140562
700	1		_aSchneider, Susanne A. _eeditor literario _995264 _0Local
700	1		_aBrás, José M. Tomás _eeditor literario _995265 _0Local
710	2		_aSpringerLink (Online service) _0Local _9106996
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://link.springer.com/book/10.1007/978-3-319-17223-1 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
907			_a.b12910132 _b10-10-17 _c10-02-16
942			_2lcc _cLE
945			_aRC376.5 M684 2015 EB _g1 _ieBOOK _j0 _lmae _o- _pEUR0.00 _q- _r- _sb _t15 _u0 _v0 _w0 _x0 _y.i11577812 _z06-04-17
998			_am _a_alco _a_vill _b - - _cm _dz _e- _feng _ggw _h0