Francesca Moro

Germline and mosaic mutations of <i>FLN1</i> in men with periventricular heterotopia

Renzo Guerrini, Davide Mei, S. M. Sisodiya et al. · Neurology · 2004 · 153 citations

Expansion of the first PolyA tract of <i>ARX</i> causes infantile spasms and status dystonicus

Renzo Guerrini, Francesca Moro, Mitsuhiro Kato et al. · Neurology · 2007 · 147 citations

Mosaic mutations of the <i>LIS1</i> gene cause subcortical band heterotopia

Federico Sicca, Arpad Kelemen, Pierre Genton et al. · Neurology · 2003 · 126 citations

Autism with Seizures and Intellectual Disability: Possible Causative Role of Gain-of-function of the Inwardly-Rectifying K+ Channel Kir4.1

Federico Sicca, Paola Imbrici, Maria Cristina D’Adamo et al. · Neurobiology of Disease · 2011 · 123 citations · Full text

Neurodevelopmental Disorders, Molecular Neuroscience, Possible Causative Role +12

Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: Early treatment can prevent phenotypic expression of the disease

Roberta Battini, M. Alessandri, Vincenzo Leuzzi et al. · The Journal of Pediatrics · 2006 · 100 citations

Phenotypic Expression, Genetics, Inherited Metabolic Disease +6