Barbara Tappino

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

Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis

Stefano Regis, Barbara Tappino, Camillo Rosano et al. · Human Mutation · 2007 · 73 citations · Full text

Cell Line and DNA Biobank From Patients Affected by Genetic Diseases

Mirella Filocamo, Raffaella Mazzotti, Fabio Corsolini et al. · Open Journal of Bioresources · 2014 · 53 citations · Full text

Genetic Testing, Engineering, Patients Affected +28

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on<i>GNPTAB</i>and<i>GNPTG</i>mutations

Renata Voltolini Velho, Frederike L. Harms, Tatyana Danyukova et al. · Human Mutation · 2019 · 50 citations

Lysosomal Storage Disease, Genetics, Glycobiology +17

Molecular analysis of NPC1 and NPC2 gene in 34 Niemann–Pick C Italian Patients: identification and structural modeling of novel mutations

Tatiana Fancello, Andrea Dardis, Camillo Rosano et al. · Neurogenetics · 2009 · 47 citations · Full text

Npc2 Gene, Genetic Disorder, Medicine +7