Zobrazeno 1 - 10
of 726
pro vyhledávání: '"N. W. Wood"'
Publikováno v:
European Journal of Neurology
Background and purpose The recent advances in genetics have helped to unravel the cause of many dystonia syndromes. With the broadening spectrum of genetically defined dystonia syndromes, distinct clinico‐radiological phenotypes are a welcome handl
Publikováno v:
Annals of Human Genetics. 65:111-126
Autor:
S M, Zuberi, L H, Eunson, A, Spauschus, R, De Silva, J, Tolmie, N W, Wood, R C, McWilliam, J B, Stephenson, J P, Stephenson, D M, Kullmann, M G, Hanna
Publikováno v:
Brain. 122:817-825
Episodic ataxia type 1 (EA1) is a rare autosomal dominant disorder characterized by brief episodes of ataxia associated with continuous interattack myokymia. Point mutations in the human voltage-gated potassium channel (Kv1.1) gene on chromosome 12p1
Publikováno v:
Philosophical Transactions of the Royal Society B: Biological Sciences. 360:1539-1541
Although the genetic analysis of common disease has met with relatively little success to date, there is a growing sense that the tools necessary to deliver clinically relevant progress are slowly becoming available. In this meeting we sought to pull
Autor:
G, Koutsis, A, Pandraud, G, Karadima, M, Panas, M M, Reilly, P, Floroskufi, N W, Wood, H, Houlden
Publikováno v:
Clinical genetics. 83(4)
Autor:
Dobert, Jan Philipp1 (AUTHOR), Bub, Simon1 (AUTHOR), Mächtel, Rebecca1 (AUTHOR), Januliene, Dovile2 (AUTHOR), Steger, Lisa1 (AUTHOR), Regensburger, Martin1,3 (AUTHOR), Wilfling, Sibylle4 (AUTHOR), Chen, Jia‐Xuan5 (AUTHOR), Dejung, Mario5 (AUTHOR), Plötz, Sonja1 (AUTHOR), Hehr, Ute4 (AUTHOR), Moeller, Arne2 (AUTHOR), Arnold, Philipp6 (AUTHOR) philipp.arnold@fau.de, Zunke, Friederike1 (AUTHOR) friederike.zunke@uk-erlangen.de
Publikováno v:
Advanced Science. 7/3/2024, Vol. 11 Issue 25, p1-18. 18p.
Publikováno v:
Frontiers of Agricultural Science & Engineering. Jun2024, Vol. 11 Issue 2, p271-281. 11p.
Autor:
Zhang, Ming1 (AUTHOR), Zhi, Na1,2 (AUTHOR), Feng, Jiaxiang1 (AUTHOR), Liu, Yingqi1 (AUTHOR), Zhang, Meixia3 (AUTHOR), Liu, Dingxi4 (AUTHOR), Yuan, Jie1,2 (AUTHOR), Dong, Yuhao1 (AUTHOR), Jiang, Sufang1 (AUTHOR), Ge, Junye1 (AUTHOR), Wu, Shengxi1 (AUTHOR) shengxi@fmmu.edu.cn, Zhao, Xianghui1 (AUTHOR) xianghuizhao@fmmu.edu.cn
Publikováno v:
Advanced Science. 5/28/2024, Vol. 11 Issue 20, p1-13. 13p.
Autor:
P, Giunti, H, Houlden, C, Gardner-Thorpe, P F, Worth, J, Johnson, D A, Hilton, T, Revesz, M B, Davis, N W, Wood
Publikováno v:
Handbook of clinical neurology. 103
Autor:
S, Sharma, R, Bandopadhyay, T, Lashley, A E M, Renton, A E, Kingsbury, R, Kumaran, C, Kallis, C, Vilariño-Güell, S S, O'Sullivan, A J, Lees, T, Revesz, N W, Wood, J L, Holton
Publikováno v:
Neuropathology and applied neurobiology. 37(7)
Mutations in the gene encoding leucine-rich repeat kinase-2 (LRRK2) have been established as a common genetic cause of Parkinson's disease (PD). The distribution of LRRK2 mRNA and protein in the human brain has previously been described, although it