Paolo Balestri

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

Francesca Mari, Sara Azimonti, Ilaria Bertani et al. · Human Molecular Genetics · 2005 · 318 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

Valeria Tiranti, Pio D’Adamo, Egill Briem et al. · The American Journal of Human Genetics · 2004 · 203 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Spermatogenesis in a Man with Complete Deletion of <i>USP9Y</i>

Alice Luddi, Maria Margollicci, Laura Gambera et al. · New England Journal of Medicine · 2009 · 136 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Childhood Absence Epilepsy: Evolution and Prognostic Factors

Salvatore Grosso, Daniela Galimberti, Piero Vezzosi et al. · Epilepsia · 2005 · 129 citations

Medicine, Neurology, Pediatrics +16

Private inherited microdeletion/microduplications: Implications in clinical practice

Maria Antonietta Mencarelli, Eleni Katzaki, Filomena Tiziana Papa et al. · European Journal of Medical Genetics · 2008 · 107 citations

Life Sciences, Genetics, Molecular Genetics +14