Alessandro Simonati

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

Neil V. Morgan, Shawn K. Westaway, Jenny E.V. Morton et al. · Nature Genetics · 2006 · 538 citations · Full text

Life Sciences, Neurology, Neuroscience +8

The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum

Heidi Howard, David B. Mount, Daniel Rochefort et al. · Nature Genetics · 2002 · 278 citations

Medicine, Neurology, Neuroscience +16

Neurodegeneration associated with genetic defects in phospholipase A ₂

Allison Gregory, S. K. Westaway, Ida E. Holm et al. · Neurology · 2008 · 266 citations · Full text

Life Sciences, Genetics, Neurology +12

NCL diseases — clinical perspectives

Angela Schulz, Alfried Kohlschütter, Jonathan W. Mink et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2013 · 248 citations

Medicine, Pathobiology, Immunopathology +1

GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings

Anna Caciotti, Scott C. Garman, Yadilette Rivera-Colón et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2011 · 157 citations · Full text

Medicine, Genetics, Molecular Genetics +16