Alessandro Simonati
University of Verona(IT)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Cellular transport and secretion, Glycogen Storage Diseases and Myoclonus, Hereditary Neurological Disorders, Mitochondrial Function and Pathology
Most-Cited Works
- → PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron(2006)537 cited
- → The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum(2002)278 cited
- → Neurodegeneration associated with genetic defects in phospholipase A 2(2008)266 cited
- → NCL diseases — clinical perspectives(2013)245 cited
- → Human pathology in NCL(2012)225 cited
- → GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings(2011)156 cited
- → Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study