Carla Ciccone

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study (2007)

Sparks, Susan, Rakocevic, Goran, Joe, Galen, Manoli, Irini, Shrader, Joseph, Harris-Love, Michael, ...

Abstract Background Hereditary Inclusion Body Myopathy (HIBM) is an autosomal recessive, adult onset, non-inflammatory neuromuscular disorder with no effective treatment. The causative gene, GNE ,...

Isolation of Intragenic Suppressor Mutations of a Dominant-Negative ftsZ Allele (2003)

Ciccone, Carla

Streptomyces coelicolor, a gram-positive bacterium containing division genes that are dispensable for growth and viability. ftsZ encodes the earliest acting cell division protein in prokaryotes. In...

Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine

Galeano, Belinda, Klootwijk, Riko, Manoli, Irini, Sun, MaoSen, Ciccone, Carla, Darvish, Daniel, ...

Mutations in the key enzyme of sialic acid biosynthesis, uridine diphospho–N-acetylglucosamine 2-epimerase/N-acetylmannosamine (ManNAc) kinase (GNE/MNK), result in hereditary inclusion body...