Valentina Marchiani

Efficacy and safety of levetiracetam: An add-on trial in children with refractory epilepsy

Salvatore Grosso, Giangennaro Coppola, Paola Iannetti et al. · Seizure · 2005 · 70 citations · Full text

Medicine, Pediatrics, Pharmacology +11

FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype

Caterina Garone, Tommaso Pippucci, Duccio Maria Cordelli et al. · Developmental Medicine & Child Neurology · 2011 · 43 citations

Life Sciences, Genetics, Neurology +17

Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

Serena Grossi, Stefano Regis, Roberta Biancheri et al. · Orphanet Journal of Rare Diseases · 2011 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype

Pamela Magini, Tommaso Pippucci, I-Chun Tsai et al. · Human Molecular Genetics · 2014 · 39 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration

Pamela Magini, Monica Poscente, Simona Ferrari et al. · Molecular Cytogenetics · 2015 · 38 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17