Maila Giannandrea

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 · 268 citations · Full text

Neurodegenerative Diseases, Genetic Disorder, Genetics +8

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 · 234 citations · Full text

Syndromic Autism, Genetic Disorder, Genetics +8

α-Synuclein and Its A30P Mutant Affect Actin Cytoskeletal Structure and Dynamics

Vitor Sousa, Serena Bellani, Maila Giannandrea et al. · Molecular Biology of the Cell · 2009 · 108 citations · Full text

Protein Function, Synaptic Signaling, Medicine +13

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 · 85 citations · Full text

Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains

Lieselot Vanmarsenille, Maila Giannandrea, Nathalie Fieremans et al. · Human Mutation · 2013 · 63 citations

Clinical Symptoms, Brain Function, Genetics +21