Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Mark P. Nespeca"'
Autor:
Hsien-Yang Lee, Yong Huang, Nadine Bruneau, Patrice Roll, Elisha D.O. Roberson, Mark Hermann, Emily Quinn, James Maas, Robert Edwards, Tetsuo Ashizawa, Betul Baykan, Kailash Bhatia, Susan Bressman, Michiko K. Bruno, Ewout R. Brunt, Roberto Caraballo, Bernard Echenne, Natalio Fejerman, Steve Frucht, Christina A. Gurnett, Edouard Hirsch, Henry Houlden, Joseph Jankovic, Wei-Ling Lee, David R. Lynch, Shehla Mohammed, Ulrich Müller, Mark P. Nespeca, David Renner, Jacques Rochette, Gabrielle Rudolf, Shinji Saiki, Bing-Wen Soong, Kathryn J. Swoboda, Sam Tucker, Nicholas Wood, Michael Hanna, Anne M. Bowcock, Pierre Szepetowski, Ying-Hui Fu, Louis J. Ptáček
Publikováno v:
Cell Reports, Vol 1, Iss 1, Pp 2-12 (2012)
Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an episodic movement disorder with autosomal-dominant inheritance and high penetrance, but the causative genetic mutation is unknown. We have now identified four truncating muta
Externí odkaz:
https://doaj.org/article/34f72425695f4e2292e28ed7b26367c7
Publikováno v:
Pediatrics. 97:127-128
The association of maternal varicella-zoster virus (VZV) infection during pregnancy and congenital anomalies has been previously reported.1,2 Pregnancies complicated by maternal VZV infection have resulted in asymptomatic infants, the fetal varicella