Výsledky vyhledávání - "Y P Goldberg"

Safety and Efficacy of a Topical Sodium Channel Inhibitor (TV-45070) in Patients With Postherpetic Neuralgia (PHN)

Autor: Katie Jane Webster Proctor, Judith Neville, Y P Goldberg, Robin Sherrington, Nicola Anne Price, Michael Fetell, Richard Malamut, Jeffery Vest, Rostam Namdari, Samer Kaber, Simon N. Pimstone

Publikováno v: The Clinical Journal of Pain

Objective The objective was to evaluate the safety and efficacy of TV-45070 ointment, as a treatment for postherpetic neuralgia, and to explore the response in patients with the Nav1.7 R1150W gain-of-function polymorphism. Materials and methods This

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e10a87486de7571f3c3c9fc7f9cca0df
https://doi.org/10.1097/ajp.0000000000000408

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Human Mendelian pain disorders: a key to discovery and validation of novel analgesics

Autor: Y P Goldberg, Rostam Namdari, Michael R. Hayden, Nicola Anne Price, S. N. Pimstone, Charles Jay Cohen, Robin Sherrington

Publikováno v: Clinical Genetics. 82:367-373

We have utilized a novel application of human genetics, illuminating the important role that rare genetic disorders can play in the development of novel drugs that may be of relevance for the treatment of both rare and common diseases. By studying a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a661802378e279fb587c3de2d5a554a8
https://doi.org/10.1111/j.1399-0004.2012.01942.x

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Treatment of Nav1.7-mediated pain in inherited erythromelalgia using a novel sodium channel blocker

Autor: Simon N. Pimstone, James Price, Conrad Winters, Henry Verschoof, Charles Jay Cohen, Nicola Anne Price, Robin Sherrington, Clint Young, Rostam Namdari, Y P Goldberg, Michael R. Hayden, M.H. Lamers

Publikováno v: Pain, 153, 80-5
Pain, 153, 1, pp. 80-5

Item does not contain fulltext Mutations in the SCN9A gene leading to deficiency of its protein product, Na(v)1.7, cause congenital indifference to pain (CIP). CIP is characterized by the absence of the ability to sense pain associated with noxious s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a348571150a7312357b621ec081131b2
https://doi.org/10.1016/j.pain.2011.09.008

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A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis

Autor: Katrina J. Allen, Martin B. Delatycki, Mark E. Samuels, C Radomski, Michael R. Hayden, Jay Thompson, Paul J Gow, Julie MacFarlane, Y P Goldberg

Publikováno v: Clinical Genetics. 65:378-383

Juvenile hemochromatosis (JH) is an autosomal recessive condition that leads to significant morbidity due to early onset systemic iron overload. The majority of families with JH link to chromosome 1q and were recently found to have mutations in the H

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5d1a2128ae892f0e1ab14d6ce0a3cbe1
https://doi.org/10.1111/j.0009-9163.2004.00254.x

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Accurate determination of the number of CAG repeats in the Huntington disease gene using a sequence-specific internal DNA standard

Autor: Helge Boman, Per M. Knappskog, E. Almqvist, Y P Goldberg, Ove Bruland, Michael R. Hayden

Publikováno v: Clinical Genetics. 55:198-202

We have developed a sequence-specific internal DNA size standard for the accurate determination of the number of CAG repeats in the Huntington disease (HD) gene by cloning key fragments (between 15 and 64 CAG repeats) of the HD gene. These fragments,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0d2811ce3412042f3f3f0ab08b328d26
https://doi.org/10.1034/j.1399-0004.1999.550308.x

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HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain

Autor: Martina Metzler, Parsa Kazemi-Esfarjani, Ichiro Kanazawa, H. B. Koide, Nishiyama K, Gietz Rd, Michael Kalchman, Cheryll Wellington, Y P Goldberg, K. Nichol, Krista McCutcheon, Michael R. Hayden, Rona K. Graham, Francis C. Lynn

Publikováno v: Nature Genetics. 16:44-53

Huntington disease (HD) is associated with the expansion of a polyglutamine tract, greater than 35 repeats, in the HD gene product, huntingtin. Here we describe a novel huntingtin interacting protein, HIP1, which co-localizes with huntingtin and shar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40f1376f65b37724ffd4041a0e7b8aea
https://doi.org/10.1038/ng0597-44

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Contribution of DNA Sequence and CAG Size to Mutation Frequencies of Intermediate Alleles for Huntington Disease: Evidence from Single Sperm Analyses

Autor: F. Richards, G van den Engh, David Sillence, Brooke N. Bourdélat-Parks, Cheryl R. Greenberg, K. Nichol, Y P Goldberg, Michael R. Hayden, E. Almqvist, Leah LaTray, M. R. Hughes, H Telenius, B. R. Haddad, Elizabeth Ives, Sean Chong

Publikováno v: Human Molecular Genetics. 6:301-309

New mutations for Huntington disease (HD) arise from intermediate alleles (IAs) with between 29 and 35 CAG repeats that expand on transmission through the paternal germline to 36 CAGs or greater. Using single sperm analysis, we have assessed CAG muta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61f2dbe72a97d43bb1cfd3cfbc594e35
https://doi.org/10.1093/hmg/6.2.301

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Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population

Autor: E. Almqvist, H Telenius, J Zeisler, Michael R. Hayden, Y P Goldberg, A M Gacy, J Buchanan, D Sillence, F Richards, Cynthia T. McMurray

Publikováno v: Human Molecular Genetics. 4:1911-1918

We have directly compared intergenerational stability of intermediate alleles (IAs) derived from new mutation families (IANM) for Huntington disease (HD) with IAs in the general population (IAGP) which occur in approximately 1 in 50 persons. Analysis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1eb7ad7743854bf390c62b9d3dddf3c0
https://doi.org/10.1093/hmg/4.10.1911

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