Roberta Biancheri

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian Rice, Teresa Patrick, Rekha Parmar et al. · The American Journal of Human Genetics · 2007 · 450 citations · Full text

Medicine, Cardiology, Genetics +11

Congenital muscular dystrophies with defective glycosylation of dystroglycan

Eugenio Mercuri, Sonia Messina, Claudio Bruno et al. · Neurology · 2009 · 192 citations

Medicine, Genetics, Neurology +17

The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane

Jeremy M. Baskin, Xudong Wu, Romain Christiano et al. · Nature Cell Biology · 2015 · 148 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +8

Hypersomnia in the Prader Willi syndrome: clinical-electrophysiological features and underlying factors

Raffaele Manni, Lucia Politini, Lino Nobili et al. · Clinical Neurophysiology · 2001 · 123 citations

Medicine, Neurology, Psychiatry +10

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

Barbara Tappino, Roberta Biancheri, Matthew Mort et al. · Human Mutation · 2010 · 117 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14