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03371nam a2200505 4500 |
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978-3-319-71779-1 |
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20191021222015.0 |
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180209s2018 gw | s |||| 0|eng d |
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|a 9783319717791
|9 978-3-319-71779-1
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|a 10.1007/978-3-319-71779-1
|2 doi
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|a Polyglutamine Disorders
|h [electronic resource] /
|c edited by Clévio Nóbrega, Luís Pereira de Almeida.
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|a 1st ed. 2018.
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|a Cham :
|b Springer International Publishing :
|b Imprint: Springer,
|c 2018.
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| 300 |
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|a VIII, 469 p. 41 illus., 39 illus. in color.
|b online resource.
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|a text
|b txt
|2 rdacontent
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|a computer
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|a online resource
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|a text file
|b PDF
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|a Advances in Experimental Medicine and Biology,
|x 0065-2598 ;
|v 1049
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| 520 |
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|a This book provides a cutting-edge review of polyglutamine disorders. It primarily focuses on two main aspects: (1) the mechanisms underlying the pathologies' development and progression, and (2) the therapeutic strategies that are currently being explored to stop or delay disease progression. Polyglutamine (polyQ) disorders are a group of inherited neurodegenerative diseases with a fatal outcome that are caused by an abnormal expansion of a coding trinucleotide repeat (CAG), which is then translated in an abnormal protein with an elongated glutamine tract (Q). To date, nine polyQ disorders have been identified and described: dentatorubral-pallidoluysian atrophy (DRPLA); Huntington's disease (HD); spinal-bulbar muscular atrophy (SBMA); and six spinocerebellar ataxias (SCA 1, 2, 3, 6, 7, and 17). The genetic basis of polyQ disorders is well established and described, and despite important advances that have opened up the possibility of generating genetic models of the disease, the mechanisms that cause neuronal degeneration are still largely unknown and there is currently no treatment available for these disorders. Further, it is believed that the different polyQ may share some mechanisms and pathways contributing to neurodegeneration and disease progression.
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|a Neurosciences.
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|a Neurology .
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|a Medical genetics.
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|a Neurosciences.
|0 http://scigraph.springernature.com/things/product-market-codes/B18006
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|a Neurology.
|0 http://scigraph.springernature.com/things/product-market-codes/H36001
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|a Gene Function.
|0 http://scigraph.springernature.com/things/product-market-codes/B12030
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|a Nóbrega, Clévio.
|e editor.
|4 edt
|4 http://id.loc.gov/vocabulary/relators/edt
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1 |
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|a Pereira de Almeida, Luís.
|e editor.
|4 edt
|4 http://id.loc.gov/vocabulary/relators/edt
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| 710 |
2 |
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|a SpringerLink (Online service)
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| 773 |
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|t Springer eBooks
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| 776 |
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|i Printed edition:
|z 9783319717784
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| 776 |
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|i Printed edition:
|z 9783319717807
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| 776 |
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|i Printed edition:
|z 9783319891033
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| 830 |
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|a Advances in Experimental Medicine and Biology,
|x 0065-2598 ;
|v 1049
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| 856 |
4 |
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|u https://doi.org/10.1007/978-3-319-71779-1
|z Full Text via HEAL-Link
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|a ZDB-2-SBL
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|a Biomedical and Life Sciences (Springer-11642)
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