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Silvia Dominissini

University of Udine

11

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208

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

2011 European Journal of Human Genetics
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36. Biochemical and molecular findings in a LIMP-2 deficient patient who presented with myoclonic epilepsy and no signs of renal involvement

2009 Molecular Genetics and Metabolism
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Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit ( GNPTG) gene in patients with mucolipidosis III gamma

2009 Human Mutation
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Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele

2008 Human Mutation
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Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease

2008 Human Mutation
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Haplotype Analysis Suggests a Single Balkan Origin for the Gaucher Disease (D409H;H255Q) Double

2008
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Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays

2006 Human Mutation
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Comparative in vitro Expression Study of Four Fabry Disease Causing Mutations at Glutamine 279 of the α-Galactosidase A Protein

2004 Human Heredity
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