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

Life Sciences, Genetics, Molecular Genetics +17

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

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 · 71 citations

Medicine, Clinical Sciences, Hematology +6

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

Life Sciences, Genetics, Molecular Genetics +17

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

Mirella Filocamo, Raffaella Mazzotti, Marina Stroppiano et al. · Human Mutation · 2002 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17