Giuseppe Marangi

A Genome-Wide Association Study of Myasthenia Gravis

Alan E. Renton, Hannah A. Pliner, Carlo Provenzano et al. · JAMA Neurology · 2015 · 214 citations · Full text

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

Marcella Zollino, Daniela Orteschi, Marina Murdolo et al. · Nature Genetics · 2012 · 160 citations

Mendelian Disorder, Microdeletion Syndrome Phenotype, Genetic Disorder +4

SYT1-associated neurodevelopmental disorder: a case series

Kate Baker, Sarah L. Gordon, Holly Melland et al. · Brain · 2018 · 139 citations · Full text

P525L FUS mutation is consistently associated with a severe form of juvenile Amyotrophic Lateral Sclerosis

Amelia Conte, Serena Lattante, Marcella Zollino et al. · Neuromuscular Disorders · 2011 · 132 citations

Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis, Neurological Disorder +10

Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease

Serena Lattante, Amelia Conte, Marcella Zollino et al. · Neurology · 2012 · 110 citations

Sporadic Als, Neurological Disorder, Genetics +17