GNE Myopathy: Two Clusters with History and Several Founder Mutations

por Argov, Zohar, Mitrani Rosenbaum, Stella
Publicado 2015

The Obesogenic and Glycemic Effect of Bariatric Surgery in a Family with a Melanocortin 4 Receptor Loss-of-Function Mutation

por Grinbaum, Ronit, Beglaibter, Nahum, Mitrani-Rosenbaum, Stella, Kaplan, Lee M., Ben-Zvi, Danny
Publicado 2022

Generation and characterization of a novel gne Knockout Model in Zebrafish

por Livne, Hagay, Avital, Tom, Ruppo, Shmuel, Harazi, Avi, Mitrani-Rosenbaum, Stella, Daya, Alon
Publicado 2022

Pre Clinical Assessment of AAVrh74.MCK.GNE Viral Vector Therapeutic Potential: Robust Activity Despite Lack of Consistent Animal Model for GNE Myopathy

por Mitrani-Rosenbaum, Stella, Yakovlev, Lena, Becker Cohen, Michal, Argov, Zohar, Fellig, Yakov, Harazi, Avi
Publicado 2022

In vivo and in vitro genome editing to explore GNE functions

por Ilouz, Nili, Harazi, Avi, Guttman, Miriam, Daya, Alon, Ruppo, Shmuel, Yakovlev, Lena, Mitrani-Rosenbaum, Stella
Publicado 2022

GNE Is Involved in the Early Development of Skeletal and Cardiac Muscle

por Milman Krentsis, Irit, Sela, Ilan, Eiges, Rachel, Blanchard, Véronique, Berger, Markus, Becker Cohen, Michal, Mitrani-Rosenbaum, Stella
Publicado 2011

The Proteomic Profile of Hereditary Inclusion Body Myopathy

por Sela, Ilan, Milman Krentsis, Irit, Shlomai, Zipora, Sadeh, Menachem, Dabby, Ron, Argov, Zohar, Ben-Bassat, Hannah, Mitrani-Rosenbaum, Stella
Publicado 2011

UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) Binds to Alpha-Actinin 1: Novel Pathways in Skeletal Muscle?

por Amsili, Shira, Zer, Hagit, Hinderlich, Stephan, Krause, Sabine, Becker-Cohen, Michal, MacArthur, Daniel G., North, Kathryn N., Mitrani-Rosenbaum, Stella
Publicado 2008

Upregulation of Hallmark Muscle Genes Protects Gne(M743T/M743T) Mutated Knock-In Mice From Kidney and Muscle Phenotype

por Benyamini, Hadar, Kling, Yehuda, Yakovlev, Lena, Becker Cohen, Michal, Nevo, Yuval, Elgavish, Sharona, Harazi, Avi, Argov, Zohar, Sela, Ilan, Mitrani-Rosenbaum, Stella
Publicado 2020

Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation

por Attali, Ruben, Aharoni, Sharon, Treves, Susan, Rokach, Ori, Becker Cohen, Michal, Fellig, Yakov, Straussberg, Rachel, Dor, Talya, Daana, Muhannad, Mitrani-Rosenbaum, Stella, Nevo, Yoram
Publicado 2013

Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells

por Yanovsky-Dagan, Shira, Avitzour, Michal, Altarescu, Gheona, Renbaum, Paul, Eldar-Geva, Talia, Schonberger, Oshrat, Mitrani-Rosenbaum, Stella, Levy-Lahad, Ephrat, Birnbaum, Ramon Y., Gepstein, Lior, Epsztejn-Litman, Silvina, Eiges, Rachel
Publicado 2015