Gianna Ulzi
Milan, Italy
Last Updated: 09/26/2026
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Found 9 publications
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.
Journal: Human mutation
Published: March 27, 2018
Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: February 20, 2018
Neuromuscular excitability changes produced by sustained voluntary contraction and response to mexiletine in myotonia congenita.
Journal: Neurophysiologie clinique = Clinical neurophysiology
Published: October 26, 2016
Morpholino-mediated SOD1 reduction ameliorates an amyotrophic lateral sclerosis disease phenotype.
Journal: Scientific reports
Published: October 09, 2015
Spinal muscular atrophy phenotype is ameliorated in human motor neurons by SMN increase via different novel RNA therapeutic approaches.
Journal: Scientific reports
Published: March 18, 2015
Glycogen storage disease type III: A novel Agl knockout mouse model.
Journal: Biochimica et biophysica acta
Published: April 11, 2014
In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay.
Journal: Molecular biology reports
Published: August 16, 2013
Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient.
Journal: Journal of physiology and pharmacology : an official journal of the Polish Physiological Society
Published: March 14, 2013
Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients.
Journal: Journal of the neurological sciences
Published: February 17, 2012
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Last Updated: 09/26/2026