Gianna Ulzi

Spinal muscular atrophy phenotype is ameliorated in human motor neurons by SMN increase via different novel RNA therapeutic approaches

Monica Nizzardo, Chiara Simone, Sara Dametti et al. · Scientific Reports · 2015 · 47 citations · Full text

Glycogen storage disease type III: A novel Agl knockout mouse model

Serena Pagliarani, Sabrina Lucchiari, Gianna Ulzi et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2014 · 35 citations · Full text

Knockout Mouse, Molecular Physiology, Engineering +12

Morpholino-mediated SOD1 reduction ameliorates an amyotrophic lateral sclerosis disease phenotype

Monica Nizzardo, C. Simoné, Federica Rizzo et al. · Scientific Reports · 2016 · 32 citations · Full text

Myotonia congenita: Novel mutations in CLCN1 gene and functional characterizations in Italian patients

Gianna Ulzi, Marzia Lecchi, Valeria Sansone et al. · Journal of the Neurological Sciences · 2012 · 23 citations

Mendelian Disorder, Genetic Disorder, Genetics +6

The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel

Concetta Altamura, Sabrina Lucchiari, Dalila Sahbani et al. · Human Mutation · 2018 · 16 citations · Full text

Amino Acids, Patch Clamp, Genetics +17