全部文献期刊会议图书|学者科研项目
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作者:... Mary B Davis , Annalisa Pastore , Paola Giunti
来源:[J].PLoS Genetics(IF 8.694), 2017, Vol.9 (7)DOAJ
摘要:At least nine dominant neurodegenerative diseases are caused by expansion of CAG repeats in coding regions of specific genes that result in abnormal elongation of polyglutamine (polyQ) tracts in the corresponding gene products. When above a threshold that is specific for each dis...
作者:... Julie Vallortigara , Barry Hunt , Paola Giunti
来源:[J].Orphanet Journal of Rare Diseases(IF 4.315), 2019, Vol.14 (1), pp.1-10DOAJ
摘要:The progressive ataxias are a group of rare and complicated neurological disorders, knowledge of which is often poor among healthcare professionals (HCPs). The patient support group Ataxia UK, recognising the lack of awareness of this group of conditions, has developed medic...
作者:Paola Giunti , Predrag Slijepcevic
来源:[J].Molecular Neurodegeneration(IF 4.007), 2015, Vol.10 (1)Springer
摘要:Abstract(#br) Background(#br)Friedreich ataxia (FRDA) is a progressive inherited neurodegenerative disorder caused by mutation of the FXN gene, resulting in decreased frataxin expression, mitochondrial dysfunction and oxidative stress. A recent study has identified shorter telome...
作者:... Matthew E. Adams , Lisa Cipolotti , Paola Giunti
来源:[J].Orphanet Journal of Rare Diseases(IF 4.315), 2016, Vol.11 (1)Springer
摘要:Abstract(#br) Background(#br)The natural history of clinical symptoms in the spinocerebellar ataxias (SCA)s has been well characterised. However there is little longitudinal data comparing cognitive changes in the most common SCA subtypes over time. The present study provides a p...
作者:... Juliana M.Ferraz Sallum , Paola Giunti , Orlando G. Barsottini
来源:[J].Parkinsonism and Related Disorders(IF 3.274), 2018Elsevier
摘要:Abstract(#br)Background(#br)Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an important form of inherited ataxia with a varied clinical spectrum. Detailed studies of phenotype and genotype are necessary to improve diagnosis and elucidate this disorder patho...
作者:... Amy Peters , Paola Giunti , Brian L. Day
来源:[J].Current Biology(IF 9.494), 2018, Vol.28 (22), pp.3589-3598.e3Elsevier
摘要:Summary(#br)Our perception of verticality relies on combining sensory information from multiple sources. Neuronal recordings in animals implicate the cerebellum in the process, yet disease of the human cerebellum was not found to affect this perception. Here we show that a p...
作者:Paola Giunti , Nicholas Wood
来源:[J].Journal of Neurology(IF 3.578), 2013, Vol.260 (3), pp.856-859Springer
摘要:Abstract(#br)Spinocerebellar ataxias (SCA) are a genetically heterogeneous group of neurodegenerative diseases characterised by progressive cerebellar ataxia, dysarthria and oculomotor abnormalities. Recently the prodynorphin ( PDYN ) gene was identified as the cause of SCA23 in ...

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