Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Lynda Tyrrell"'
Autor:
Sulayman D. Dib-Hajj, Chongyang Han, Stephen G. Waxman, Mark Estacion, Dymtro Vasylyev, Ingemar S. J. Merkies, Lynda Tyrrell, Jianying Huang, Catharina G. Faber, Monique M. Gerrits, Janneke G. J. Hoeijmakers, Giuseppe Lauria
Publikováno v:
Brain, 137, 1627-1642. Oxford University Press
The aetiology of painful peripheral neuropathy is often unknown. Huang et al. sequence the gene encoding sodium channel Na(v)1.9 in 393 patients with small fibre neuropathy and identify eight variants in 12 individuals. Functional analysis of two var
Autor:
Carl Y. Saab, Xiaoyang Cheng, Andreas Gasser, Masashi Iwata, Shannon D. Shields, Stephen G. Waxman, Joel A. Black, Emmanuella M. Eastman, Lynda Tyrrell, Sulayman D. Dib-Hajj, Pamela J. Zwinger
Publikováno v:
Annals of Neurology. 71:186-194
Objective: Cerebellar dysfunction in multiple sclerosis (MS) contributes significantly to disability, is relatively refractory to symptomatic therapy, and often progresses despite treatment with disease-modifying agents. We previously observed that s
Autor:
Xiaoyang Cheng, Sulayman D. Dib-Hajj, Stephen G. Waxman, Lynda Tyrrell, Rene H. M. te Morsche, Joost P.H. Drenth
Publikováno v:
Brain, 134, Pt 7, pp. 1972-86
Brain, 134, 1972-86
Brain, 134, 1972-86
Item does not contain fulltext Gain-of-function missense mutations of voltage-gated sodium channel Na(V)1.7 have been linked to the painful disorder inherited erythromelalgia. These mutations hyperpolarize activation, slow deactivation and enhance cu
Autor:
Xiaoyang Cheng, Stephen G. Waxman, Lynda Tyrrell, Andreas Gasser, Sulayman D. Dib-Hajj, Elaine S. Gilmore
Publikováno v:
Journal of Biological Chemistry. 285:26149-26161
Sodium channel Na(v)1.6 is essential for neuronal excitability in central and peripheral nervous systems. Loss-of-function mutations in Na(v)1.6 underlie motor disorders, with homozygous-null mutations causing juvenile lethality. Phosphorylation of N
Autor:
Yang Yang, Jin-Sung Choi, Yan Li, Lynda Tyrrell, Zhimiao Lin, Mark Estacion, Stephen G. Waxman, Sulayman D. Dib-Hajj, Emmanuella M. Eastman
Publikováno v:
The Journal of Physiology. 588:1915-1927
Ion channel missense mutations cause disorders of excitability by changing channel biophysical properties. As an increasing number of new naturally occurring mutations have been identified, and the number of other mutations produced by molecular appr
Autor:
Tanya Z. Fischer, Xiaoyang Cheng, Stephen G. Waxman, Lynda Tyrrell, Dowain A. Wright, Sulayman D. Dib-Hajj
Publikováno v:
Molecular Pain, Vol 6, Iss 1, p 24 (2010)
Molecular Pain
Molecular Pain
Background: Two groups of gain-of-function mutations in sodium channel NaV1.7, which are expressed in dorsal root ganglion (DRG) neurons, produce two clinically-distinct pain syndromes – inherited erythromelalgia (IEM) and paroxysmal extreme pain d
Autor:
Frances V. Elmslie, Lynda Tyrrell, Hye-Sook Ahn, C. Geoffrey Woods, Antonia Clarke, James J. Cox, Stephen G. Waxman, Joost P.H. Drenth, Sulayman D. Dib-Hajj
Publikováno v:
European Journal of Pain, 14, 9, pp. 944-50
European Journal of Pain, 14, 944-50
European Journal of Pain, 14, 944-50
Item does not contain fulltext Dominant gain-of-function mutations that hyperpolarize activation of the Na(v)1.7 sodium channel have been linked to inherited erythromelalgia (IEM), a disorder characterized by severe pain and redness in the feet and h
Autor:
Yan Li, Lynda Tyrrell, Chongyang Han, Zhimiao Lin, Stephen G. Waxman, Yong Yang, Emmanuella M. Eastman, Sulayman D. Dib-Hajj, Xianwei Cao
Publikováno v:
Brain. 132:1711-1722
Inherited erythromelalgia (IEM), an autosomal dominant disorder characterized by severe burning pain in response to mild warmth, has been shown to be caused by gain-of-function mutations of sodium channel Na(v)1.7 which is preferentially expressed wi
Autor:
Lynda Tyrrell, Zhimiao Lin, Sulayman D. Dib-Hajj, Yang Yang, Xiaoliang Wang, Stephen G. Waxman, Chongyang Han, Jin-Sung Choi, Lili Zhang
Publikováno v:
Experimental Neurology. 216:383-389
Inherited erythromelalgia (IEM), characterized by episodic burning pain and erythema of the extremities, is produced by gain-of-function mutations in sodium channel Na v 1.7, which is preferentially expressed in nociceptive and sympathetic neurons. M
Autor:
Stephen G. Waxman, Bonnie A. Wallace, Lynda Tyrrell, Angelika Lampert, Sulayman D. Dib-Hajj, Andrias O. O'Reilly
Publikováno v:
Journal of Biological Chemistry. 283:24118-24127
Sodium channel Nav1.7 has recently elicited considerable interest as a key contributor to human pain. Gain-of-function mutations of Nav1.7 produce painful disorders, whereas loss-of-function Nav1.7 mutations produce insensitivity to pain. The inherit