Claudio Zucca

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Erin L. Heinzen, Kathryn J. Swoboda, Yuki Hitomi et al. · Nature Genetics · 2012 · 417 citations · Full text

Rare Diseases, Mendelian Disorder, Genetic Disorder +8

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

María Clara Bonaglia, Roberto Giorda, Silvana Beri et al. · PLoS Genetics · 2011 · 223 citations · Full text

Familial perisylvian polymicrogyria: A new familial syndrome of cortical maldevelopment

Marilisa M. Guerreiro, E. Andermann, Renzo Guerrini et al. · Annals of Neurology · 2000 · 159 citations

Familial Perisylvian Polymicrogyria, Corticobasal Degeneration, Genetics +17

A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation

Renato Borgatti, Claudio Zucca, Anna Cavallini et al. · Neurology · 2004 · 152 citations

Genotype–phenotype relationship in three cases with overlapping 19p13.12 microdeletions

María Clara Bonaglia, Susan Marelli, Francesca Novara et al. · European Journal of Human Genetics · 2010 · 123 citations · Full text

Population Genetics, Genetics, Genotype-phenotype Association +1