Anna Lisa E. Montalvo

Molecular analysis of the<i>HEXA</i>gene in Italian patients with infantile and late Onset Tay-Sachs disease: detection of fourteen novel alleles

Anna Lisa E. Montalvo, Mirella Filocamo, Kristian Vlahoviček et al. · Human Mutation · 2005 · 37 citations · Full text

Tay-sachs Disease, Genetics, Pathology +16

Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (<i>GNPTG</i>) gene in patients with mucolipidosis III gamma

Emanuele Persichetti, Nadia Chuzhanova, Andrea Dardis et al. · Human Mutation · 2008 · 36 citations

Genetics, Pathology, Molecular Genetics +19

Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients’ phenotypes

Stefania Zampieri, Emanuele Buratti, Silvia Dominissini et al. · European Journal of Human Genetics · 2010 · 30 citations · Full text

Full Spectrum, Genetic Disorder, Medicine +12

Glycogenosis type II: identification and expression of three novel mutations in the acid α-glucosidase gene causing the infantile form of the disease

Anna Lisa E. Montalvo, Roberta Cariati, Marta Deganuto et al. · Molecular Genetics and Metabolism · 2004 · 29 citations

Glycoproteomics, Glycogenosis Type Ii, Mendelian Disorder +11

Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1

Mirella Filocamo, Silvia Dominissini, Anna Lisa E. Montalvo et al. · Human Mutation · 2004 · 25 citations