Irene Mancuso

Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis

Mario Sabatelli, Fabrizio Eusebi, Ammar Al‐Chalabi et al. · Human Molecular Genetics · 2009 · 51 citations · Full text

Life Sciences, Neurology, Neuroscience +17

A novel microdeletion syndrome with loss of the <i>MSH2</i> locus and hereditary non‐polyposis colorectal cancer

Emanuela Lucci‐Cordisco, Marcella Zollino, Silvana Baglioni et al. · Clinical Genetics · 2004 · 44 citations

Life Sciences, Genetics, Molecular Genetics +17

A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf–Hirschhorn syndrome

Marcella Zollino, Rosetta Lecce, Angelo Selicorni et al. · European Journal of Human Genetics · 2004 · 35 citations

Life Sciences, Genetics, Molecular Genetics +15

Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis

Marco Luigetti, Amelia Conte, Francesca Madia et al. · Neurological Sciences · 2009 · 26 citations

Life Sciences, Genetics, Neurology +12