Maria Lidia Mignogna

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

Gabrielle R. Wilson, Joe C.H. Sim, Catriona McLean et al. · The American Journal of Human Genetics · 2014 · 275 citations · Full text

Life Sciences, Neurology, Neuroscience +16

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

Maila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna et al. · The American Journal of Human Genetics · 2010 · 238 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition

Maria Lidia Mignogna, Maila Giannandrea, Antonia Gurgone et al. · Nature Communications · 2015 · 88 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17

X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene

Andrea Ciammola, Paola Carrera, Alessio Di Fonzo et al. · Parkinsonism & Related Disorders · 2017 · 37 citations

Life Sciences, Genetics, Molecular Genetics +17

Inhibiting glycolysis rescues memory impairment in an intellectual disability Gdi1-null mouse

Patrizia D’Adamo, Anemari Horvat, Antonia Gurgone et al. · Metabolism · 2020 · 20 citations · Full text

Medicine, Neurobiology, Neuroscience +17