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http://hdl.handle.net/2445/126346
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DC Field | Value | Language |
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dc.contributor.author | Perandones, C. | - |
dc.contributor.author | Giugni, J. C. | - |
dc.contributor.author | Calvo, D. S. | - |
dc.contributor.author | Raina, G. B. | - |
dc.contributor.author | Jorge López, L. de | - |
dc.contributor.author | Volpini Bertrán, Víctor | - |
dc.contributor.author | Zabetian, C. P. | - |
dc.contributor.author | Mata, Ignacio F. | - |
dc.contributor.author | Caputo, M. | - |
dc.contributor.author | Corach, D. | - |
dc.contributor.author | Radrizzani, M. | - |
dc.contributor.author | Micheli, F. E. | - |
dc.date.accessioned | 2018-11-22T12:46:54Z | - |
dc.date.available | 2018-11-22T12:46:54Z | - |
dc.date.issued | 2014-05-01 | - |
dc.identifier.uri | http://hdl.handle.net/2445/126346 | - |
dc.description.abstract | Dear Sir, In genetics, the term ‘mosaicism’ describes the situation in which groups of cells have a different genetic composition to other cells in an organism. Somatic gene rearrangements due to multiplication or deletion of genes (copy number variation) and/or sections of chromosomes can lead to mosaicism. The presence of multiple copies of the alpha-synuclein gene (SNCA) is known to be associated with Parkinson’s disease (PD) and the severity of symptoms increases with the number of copies of the gene [1]. While the features of PD associated with duplication of SNCA are usually (but not always) typical of the condition [2–3], patients with triplicate copies have atypical features, including rapidly evolving symptoms, severe cognitive impairment, limited response to levodopa, more severe symptoms of dementia and more... | - |
dc.format.extent | 7 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Elsevier Science | - |
dc.relation.isformatof | Versió postprint del document publicat a: https://doi.org/10.1016/j.Parkreldis.2013.11.014 | - |
dc.relation.ispartof | Parkinsonism & Related Disorders, 2014, vol. 20, num. 5, p. 558-561 | - |
dc.relation.uri | https://doi.org/10.1016/j.Parkreldis.2013.11.014 | - |
dc.rights | (c) Elsevier, 2014 | - |
dc.source | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) | - |
dc.subject.classification | Malaltia de Parkinson | - |
dc.subject.classification | Genètica molecular | - |
dc.subject.other | Parkinson's disease | - |
dc.subject.other | Molecular genetics | - |
dc.title | Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/acceptedVersion | - |
dc.date.updated | 2018-07-24T12:40:30Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 24552873 | - |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
Files in This Item:
File | Description | Size | Format | |
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PerandonesC.pdf | 360.66 kB | Adobe PDF | View/Open |
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