G. Uziel
Fondazione IRCCS Istituto Neurologico Carlo Besta(IT)
Publications by Year
Research Areas
RNA and protein synthesis mechanisms, RNA regulation and disease, RNA Research and Splicing, Glycosylation and Glycoproteins Research, Carbohydrate Chemistry and Synthesis
Most-Cited Works
- → Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-Phenotype Correlation(2001)150 cited
- → Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy(2014)105 cited
- → GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease(2007)35 cited
- → Consciousness Disturbances in Megalencephalic Leukoencephalopathy with Subcortical Cysts(2003)27 cited
- → Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype)(2006)18 cited