نتایج جستجو برای: ژن scn4a

تعداد نتایج: 15933  

2003
Paul Sirois

Copyright 2003 by Kathryn Watts, Research Director, Rocky Mountain Research & Consulting, Center, CO http://www.safergrass.org/ Paul Sirois, Manager, Dairy One Forage Testing Lab, Ithaca, NY http://www.dairyone.com/ Funded with a grant from the Animal Health Foundation http://www.animalhealthfoundation.com/ Purpose To determine if soaking a variety of different hays in cold or hot water for spe...

2013
Nathalie Legrave Souhir Hamrouni-Buonomo Maeva Dufies Vincent Guérineau Jean Vacelet Patrick Auberger Philippe Amade Mohamed Mehiri

A new C47 polyoxygenated acetylenic acid, nepheliosyne B (2), along with the previously described nepheliosyne A (1), have been isolated from the New Caledonian marine sponge Niphates sp. Their structures have been elucidated on the basis of extensive spectroscopic analyses. These metabolites exhibited a moderate cytotoxicity against K562, U266, SKM1, and Kasumi cancer cell lines.

Journal: :Brain : a journal of neurology 2002
Fen-Fen Wu Aisling Ryan Joseph Devaney Maike Warnstedt Zeljka Korade-Mirnics Barbara Poser Maria Jose Escriva Elena Pegoraro Audrey S Yee Kevin J Felice Michael J Giuliani Richard F Mayer Tiziana Mongini Laura Palmucci Michael Marino Reinhardt Rüdel Eric P Hoffman Christoph Fahlke

Myotonia is a condition characterized by impaired relaxation of muscle following sudden forceful contraction. We systematically screened all 23 exons of the CLCN1 gene in 88 unrelated patients with myotonia and identified mutations in 14 patients. Six novel mutations were discovered: five were missense (S132C, L283F, T310M, F428S and T550M) found in heterozygous patients, and one was a nonsense...

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