Giovanna Zorzi

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 · 535 citations · Full text

Neurodegenerative Diseases, Alzheimer's Disease, Biochemistry +12

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

Tobias B. Haack, Penelope Hogarth, Michael C. Kruer et al. · The American Journal of Human Genetics · 2012 · 358 citations · Full text

X-linked Dominant Form, Genetic Disorder, Genetics +8

Neurodegeneration associated with genetic defects in phospholipase A ₂

Allison Gregory, S. K. Westaway, Ida E. Holm et al. · Neurology · 2008 · 263 citations · Full text

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

Susan J. Hayflick, Michael C. Kruer, Allison Gregory et al. · Brain · 2013 · 246 citations · Full text

Neurological Disorder, Corticobasal Degeneration, Brain Iron Accumulation +19

Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

Sabrina Dusi, Lorella Valletta, Tobias B. Haack et al. · The American Journal of Human Genetics · 2013 · 200 citations · Full text