Zobrazeno 1 - 10
of 36
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:
Frontiers in Immunology, Vol 15 (2024)
IntroductionLyme disease (LD), a rapidly growing public health problem in the US, represents a formidable challenge due to the lack of detailed understanding about how the human immune system responds to its pathogen, the Borrelia burgdorferi bacteri
Externí odkaz:
https://doaj.org/article/c3149234ebad4261bf36f396238f6115
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:
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
Autor:
N, Abbas, C B, Lücking, S, Ricard, A, Dürr, V, Bonifati, G, De Michele, S, Bouley, J R, Vaughan, T, Gasser, R, Marconi, E, Broussolle, C, Brefel-Courbon, B S, Harhangi, B A, Oostra, E, Fabrizio, G A, Böhme, L, Pradier, N W, Wood, A, Filla, G, Meco, P, Denefle, Y, Agid, A, Brice
Publikováno v:
ResearcherID
Autosomal recessive juvenile parkinsonism (AR-JP, PARK2; OMIM 602544), one of the monogenic forms of Parkinson's disease (PD), was initially described in Japan. It is characterized by early onset (before age 40), marked response to levodopa treatment
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::157dcc8ddb6df2300cf591ce9af63e60
http://hdl.handle.net/11588/483633
http://hdl.handle.net/11588/483633
Publikováno v:
Eur J Neurol
Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum is a distinct and usually severe form of complex hereditary spastic paraplegia classified as SPG11. Recently mutations on SPG11 gene (KIAA1840), which is localized to