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 · 442 citations · Full text

Cardiomyopathy, Heart Failure, Cardiorenal Syndromes +8

Congenital muscular dystrophies with defective glycosylation of dystroglycan

Eugenio Mercuri, Sonia Messina, Claudio Bruno et al. · Neurology · 2009 · 185 citations

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 · 135 citations · Full text

Protein Function, Signal Transduction, P Synthesis +15

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

Raffaele Manni, Lucia Politini, Lino Nobili et al. · Clinical Neurophysiology · 2001 · 122 citations

Clinical-electrophysiological Features, Underlying Factors, Prader Willi Syndrome +1

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

Barbara Tappino, Roberta Biancheri, Matthew Mort et al. · Human Mutation · 2010 · 116 citations · Full text

Molecular Diagnostic Techniques, Somatic Variant, Mendelian Disorder +14