Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment

por Benvenuto, Mario, Palumbo, Pietro, Di Muro, Ester, Perrotta, Concetta Simona, Mazza, Tommaso, Mandarà, Giuseppa Maria Luana, Palumbo, Orazio, Carella, Massimo
Publicado 2023

Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies

por Palumbo, Pietro, Di Muro, Ester, Accadia, Maria, Benvenuto, Mario, Di Giacomo, Marilena Carmela, Castellana, Stefano, Mazza, Tommaso, Castori, Marco, Palumbo, Orazio, Carella, Massimo
Publicado 2021

Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder

por Di Muro, Ester, Palumbo, Pietro, Benvenuto, Mario, Accadia, Maria, Di Giacomo, Marilena Carmela, Manieri, Sergio, Abate, Rosaria, Tagliente, Maria, Castellana, Stefano, Mazza, Tommaso, Carella, Massimo, Palumbo, Orazio
Publicado 2021

Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease

por d'Orsi, Giuseppe, Farolfi, Andrea, Muccioli, Lorenzo, Palumbo, Orazio, Palumbo, Pietro, Modoni, Sergio, Allegri, Vincenzo, Garibotto, Valentina, Di Claudio, Maria Teresa, Di Muro, Ester, Benvenuto, Mario, Bisulli, Francesca, Carella, Massimo
Publicado 2023