000 | 03852cam a2200589Ia 4500 | ||
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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 _epn _cEBLCP _dOCLCO _dIDEBK _dN$T _dE7B _dOCLCQ _dYDXCP _dOCLCF _dOCLCQ _dOCLCO _dOCLCQ _dUAB _dOCLCQ _dOCLCA _dAU@ _dOCLCO _dOCLCA _dAGLDB _dOCLCO _dG3B _dIGB _dSTF _dOCLCQ _dOCLCO |
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020 |
_a9780199383900 _q(electronic bk.) |
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020 |
_a0199383901 _q(electronic bk.) |
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035 |
_a835599 _b(N$T) |
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035 | _a(OCoLC)889675195 | ||
060 | 4 | _aWL 140 | |
072 | 7 |
_aHEA _x039000 _2bisacsh |
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072 | 7 |
_aMED _x014000 _2bisacsh |
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072 | 7 |
_aMED _x022000 _2bisacsh |
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072 | 7 |
_aMED _x112000 _2bisacsh |
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072 | 7 |
_aMED _x045000 _2bisacsh |
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049 | _aMAIN | ||
245 | 0 | 0 |
_aNeurogenetics _c _h[E-Book] |
260 |
_aOxford : _bOxford University Press, _c2015. |
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300 | _a1 online resource. | ||
336 |
_atext _btxt _2rdacontent |
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337 |
_acomputer _bc _2rdamedia |
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338 |
_aonline resource _bcr _2rdacarrier |
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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 |
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938 |
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_aEBSCOhost _bEBSC _n835599 |
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938 |
_aProQuest MyiLibrary Digital eBook Collection _bIDEB _ncis29660600 |
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938 |
_aYBP Library Services _bYANK _n12048365 |
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938 |
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