LEADER 03991nam 22006015 450 001 9910300218203321 005 20200701072040.0 010 $a3-319-17223-9 024 7 $a10.1007/978-3-319-17223-1 035 $a(CKB)3710000000414286 035 $a(EBL)2094704 035 $a(SSID)ssj0001501610 035 $a(PQKBManifestationID)11830610 035 $a(PQKBTitleCode)TC0001501610 035 $a(PQKBWorkID)11446534 035 $a(PQKB)11578568 035 $a(DE-He213)978-3-319-17223-1 035 $a(MiAaPQ)EBC2094704 035 $a(PPN)186026463 035 $a(EXLCZ)993710000000414286 100 $a20150513d2015 u| 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 10$aMovement Disorder Genetics$b[electronic resource] /$fedited by Susanne A. Schneider, José M. Tomás Brás 205 $a1st ed. 2015. 210 1$aCham :$cSpringer International Publishing :$cImprint: Springer,$d2015. 215 $a1 online resource (529 p.) 300 $aDescription based upon print version of record. 311 $a3-319-17222-0 320 $aIncludes bibliographical references at the end of each chapters and index. 327 $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. 330 $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.  . 606 $aNeurology  606 $aHuman genetics 606 $aNeurology$3https://scigraph.springernature.com/ontologies/product-market-codes/H36001 606 $aHuman Genetics$3https://scigraph.springernature.com/ontologies/product-market-codes/B12008 615 0$aNeurology . 615 0$aHuman genetics. 615 14$aNeurology. 615 24$aHuman Genetics. 676 $a599935 676 $a610 676 $a611.01816 676 $a616.8 702 $aSchneider$b Susanne A$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aBrás$b José M. Tomás$4edt$4http://id.loc.gov/vocabulary/relators/edt 906 $aBOOK 912 $a9910300218203321 996 $aMovement Disorder Genetics$92499538 997 $aUNINA