Marina Stroppiano

Mutation profile of theGAA gene in 40 Italian patients with late onset glycogen storage disease type II

A.L.E. Montalvo, Bruno Bembi, Mariarosaria Donnarumma et al. · Human Mutation · 2006 · 126 citations

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

Four year follow-up of a case of fucosidosis treated with unrelated donor bone marrow transplantation

Maurizio Miano, Edoardo Lanino, R. Gatti et al. · Bone Marrow Transplantation · 2001 · 70 citations

Transplantation, Marrow Transplantation, Bone Marrow Failure +4

Acid sphingomyelinase: Identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of<i>in vivo</i>functional in-frame start codon

María Gabriela Pittis, Verena Ricci, Veronica Ileana Guerci et al. · Human Mutation · 2004 · 58 citations

Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients

Mirella Filocamo, Raffaella Mazzotti, Marina Stroppiano et al. · Human Mutation · 2002 · 54 citations · Full text

Engineering, Lysosomal Storage Disease, Genetics +18