Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Noa Lev-El Halabi"'
Autor:
Gabriel Lidzbarsky, Hadassa Goldberg-Stern, Lina Basel-Salmon, Noa Lev-El Halabi, Naama Orenstein, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Avi Fellner, Tomer Stern
Publikováno v:
American Journal of Medical Genetics Part A. 185:901-908
A male patient with a de novo mutation in the YWHAG gene and mild phenotype is presented. He had normal delivery and normal development, with normal speech and social milestones. At the age of 9 months, myoclonic seizures started, with generalized ep
Autor:
Liat Salzer‐Sheelo, Avi Fellner, Naama Orenstein, Lily Bazak, Noa Lev‐El Halabi, Melanie Daue, Pola Smirin‐Yosef, Cristopher V. Van Hout, Yakov Fellig, Noa Ruhrman‐Shahar, Jeffrey Staples, Nurit Magal, Alan R. Shuldiner, Braxton D. Mitchell, Yoram Nevo, Toni I. Pollin, Claudia Gonzaga‐Jauregui, Lina Basel‐Salmon
Publikováno v:
European journal of neurologyREFERENCES. 29(4)
Muscular A-type lamin-interacting protein (MLIP) is most abundantly expressed in cardiac and skeletal muscle. In vitro and animal studies have shown its regulatory role in myoblast differentiation and in organization of myonuclear positioning in skel