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pro vyhledávání: '"Simon A. Lowe"'
Autor:
Simon A. Lowe
Publikováno v:
Dystonia, Vol 3 (2024)
Dystonia is a heterogenous movement disorder characterised by involuntary muscle contractions, leading to abnormal postures and movements. Despite being the third most common movement disorder, the pathophysiological mechanisms causing dystonia are i
Externí odkaz:
https://doaj.org/article/6b3ea17213b64e0cbadfcb3bbaf20afc
Publikováno v:
Neurobiology of Disease, Vol 125, Iss , Pp 107-114 (2019)
Down syndrome (DS) is characterised by abnormal cognitive and motor development, and later in life by progressive Alzheimer's disease (AD)-like dementia, neuropathology, declining motor function and shorter life expectancy. It is caused by trisomy of
Externí odkaz:
https://doaj.org/article/0f2fd3bdcfcb49fd85ba9ecf6cd46adf
Publikováno v:
Neurobiology of Disease, Vol 110, Iss , Pp 93-101 (2018)
Down syndrome (DS) is caused by triplication of chromosome 21 (HSA21). It is characterised by intellectual disability and impaired motor coordination that arise from changes in brain volume, structure and function. However, the contribution of each H
Externí odkaz:
https://doaj.org/article/e9f31f4723774ba7904ca002afb8794e
Autor:
Roman Praschberger, Simon A. Lowe, Nancy T. Malintan, Carlo N.G. Giachello, Nian Patel, Henry Houlden, Dimitri M. Kullmann, Richard A. Baines, Maria M. Usowicz, Shyam S. Krishnakumar, James J.L. Hodge, James E. Rothman, James E.C. Jepson
Publikováno v:
Cell Reports, Vol 21, Iss 1, Pp 97-109 (2017)
Mutations in the Golgi SNARE (SNAP [soluble NSF attachment protein] receptor) protein Membrin (encoded by the GOSR2 gene) cause progressive myoclonus epilepsy (PME). Membrin is a ubiquitous and essential protein mediating ER-to-Golgi membrane fusion.
Externí odkaz:
https://doaj.org/article/8d9b11dd09d141658c999a9be32e95ef