000 03852cam a2200589Ia 4500
001 ocn889675195
003 OCoLC
005 20221128212720.0
006 m d
007 cr cnu---unuuu
008 140830s2015 enk ob 000 0 eng d
040 _aEBLCP
_beng
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020 _a9780199383900
_q(electronic bk.)
020 _a0199383901
_q(electronic bk.)
035 _a835599
_b(N$T)
035 _a(OCoLC)889675195
060 4 _aWL 140
072 7 _aHEA
_x039000
_2bisacsh
072 7 _aMED
_x014000
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072 7 _aMED
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072 7 _aMED
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072 7 _aMED
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049 _aMAIN
245 0 0 _aNeurogenetics
_c
_h[E-Book]
260 _aOxford :
_bOxford University Press,
_c2015.
300 _a1 online resource.
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
490 1 _aWhat do I do now?
504 _aIncludes bibliographical references.
505 8 _aMachine generated contents note: 1. Early-onset dystonia -- 2. DYT5 dystonia (dopa-responsive dystonia) -- 3. Myoclonus dystonia -- 4. Paroxysmal dyskinesia -- 5. Huntington disease -- 6. Dominant Parkinson disease -- 7. Recessive Parkinson disease -- 8. Gaucher disease and Parkinson disease -- 9. Spinocerebellar ataxia type 2 -- 10. Spinocerebellar ataxia type 17 -- 11. Sialidosis -- 12. Freidreich ataxia -- 13. MELAS syndrome -- 14. MERRF -- 15. POLG-related mitochondrial disease -- 16. MNGIE syndrome -- 17. Leber hereditary optic neuropathy -- 18. Charcot-Marie-Tooth disease type -- 19. Hereditary neuropathy with liability to pressure palsy -- 20. Neurofibromatosis type 12 -- 21. The myotonic dystrophies -- 22. The dystrophinopathies -- 23. Fascioscapulohumeral dystrophy -- 24. Inclusion body myopathy with Paget disease of bone and frontotemporal dementia -- 25. Hereditary spastic paraplegia -- 26. Inherited prion diseases -- 27. Frontotemporal dementia-amyotrophic lateral sclerosis syndrome -- 28. Neurodegeneration with brain iron accumulation : other issues that may arise in patients with neurogenetic conditions -- 29. Coincidental occurrence of two monogenic disorders / Christine Klein -- 30. Direct-to-consumer genetic testing / Christine Klein -- 31. Incidental findings in genetic testing / Christine Klein.
520 _aIn this book, the authors use their extensive experience in the field of neurogenetics to provide readers with a practical approach for dealing with these conditions. The 31 chapters of this book cover a broad range of neurogenetic disorders, highlighting key issues with regards to the clinical assessment, diagnosis and management"--Provided by publisher.
588 0 _aPrint version record.
590 _aWorldCat record variable field(s) change: 650
650 0 _aNervous system
_xDiseases
_xGenetic aspects.
650 0 _aNeurogenetics.
650 0 _aGenetic screening.
650 1 2 _aNervous System Diseases
_xgenetics
650 2 2 _aGenetic Testing
700 1 _aKumar, Kishore R.
830 0 _aWhat do I do now?
856 4 0 _uhttps://search.ebscohost.com/login.aspx?custid=ns123844&authtype=ip,shib&direct=true&scope=site&db=nlebk&db=nlabk&AN=835599
_yKingston Hospital NHS Foundation Trust OpenAthens account holders click here for access
938 _aProQuest Ebook Central
_bEBLB
_nEBL1771652
938 _aebrary
_bEBRY
_nebr10915733
938 _aEBSCOhost
_bEBSC
_n835599
938 _aProQuest MyiLibrary Digital eBook Collection
_bIDEB
_ncis29660600
938 _aYBP Library Services
_bYANK
_n12048365
938 _aYBP Library Services
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_n12890653
942 _n0
994 _a92
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999 _c91912
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