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Susanna Lualdi

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Neurogenetics|April 14, 2005
Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCRStefano Regis, Serena Grossi, Susanna Lualdi, et al.
Human Molecular Genetics|December 10, 2019
A transcriptional and post-transcriptional dysregulation of Dishevelled 1 and 2 underlies the Wnt signaling impairment in type I Gaucher disease experimental modelsRoberto Costa, Stefania Bellesso, Susanna Lualdi, et al.
Molecular Genetics and Metabolism|June 20, 2006
Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patientStefano Regis, Susanna Lualdi, Alessandra Biffi, et al.
Molecular Genetics and Metabolism|October 24, 2012
Spontaneous regression of hypertrophic cardiomyopathy in an infant with Pompe's diseaseMarco Spada, Davide Garelli, Chiara Riggi, et al.
Human Mutation|April 16, 2005
Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based methodSusanna Lualdi, Stefano Regis, Maja Di Rocco, et al.
Molecular Genetics and Metabolism|December 12, 2012
Neonatal chitotriosidase activity is not predictive for Niemann-Pick disease type A/B: implications for newborn screening for lysosomal storage disordersFrancesco Porta, Veronica Pagliardini, Cristiana Barbera, et al.
Journal of Molecular Medicine (Berlin, Germany)|May 16, 2006
Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcriptsSusanna Lualdi, Maria G Pittis, Stefano Regis, et al.
Human Mutation|August 10, 2005
Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel allelesAnna Lisa E Montalvo, Mirella Filocamo, Kristian Vlahovicek, et al.
Human Mutation|October 27, 2015
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel VariantsStefania Zampieri, Mirella Filocamo, Annalisa Pianta, et al.
Journal of Neurology|April 19, 2018
Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutationsMariasavina Severino, Susanna Lualdi, Chiara Fiorillo, et al.
Pageof 3

Showing results (1-10 of 21) with videos related to

Sort By:
Pageof 3
Neurogenetics|April 14, 2005
Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCRStefano Regis, Serena Grossi, Susanna Lualdi, et al.
Human Molecular Genetics|December 10, 2019
A transcriptional and post-transcriptional dysregulation of Dishevelled 1 and 2 underlies the Wnt signaling impairment in type I Gaucher disease experimental modelsRoberto Costa, Stefania Bellesso, Susanna Lualdi, et al.
Molecular Genetics and Metabolism|June 20, 2006
Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patientStefano Regis, Susanna Lualdi, Alessandra Biffi, et al.
Molecular Genetics and Metabolism|October 24, 2012
Spontaneous regression of hypertrophic cardiomyopathy in an infant with Pompe's diseaseMarco Spada, Davide Garelli, Chiara Riggi, et al.
Human Mutation|April 16, 2005
Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based methodSusanna Lualdi, Stefano Regis, Maja Di Rocco, et al.
Molecular Genetics and Metabolism|December 12, 2012
Neonatal chitotriosidase activity is not predictive for Niemann-Pick disease type A/B: implications for newborn screening for lysosomal storage disordersFrancesco Porta, Veronica Pagliardini, Cristiana Barbera, et al.
Journal of Molecular Medicine (Berlin, Germany)|May 16, 2006
Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcriptsSusanna Lualdi, Maria G Pittis, Stefano Regis, et al.
Human Mutation|August 10, 2005
Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel allelesAnna Lisa E Montalvo, Mirella Filocamo, Kristian Vlahovicek, et al.
Human Mutation|October 27, 2015
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel VariantsStefania Zampieri, Mirella Filocamo, Annalisa Pianta, et al.
Journal of Neurology|April 19, 2018
Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutationsMariasavina Severino, Susanna Lualdi, Chiara Fiorillo, et al.
Pageof 3