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S. Lualdi · SciRah

Researcher profile · Semantic Scholar

S. Lualdi

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S. Lualdi — researcher profile on SciRah

h-index: 17
Works: 26
Citations: 721

Most-cited papers

Identification and Characterization of 15 Novel GALC Gene Mutations Causing Krabbe Disease
B. Tappino, R. Biancheri, M. Mort, S. Regis +9 more
2010Human Mutation114 citations Open access
Semantic Scholar
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants
Stefania Zampieri, M. Filocamo, A. Pianta, S. Lualdi +6 more
2016Human Mutation83 citations Open access
Semantic Scholar
Expression of costimulatory molecules in human neuroblastoma. Evidence that CD40+ neuroblastoma cells undergo apoptosis following interaction with CD40L
I. Airoldi, S. Lualdi, Silvia Bruno, Lizzia Raffaghello +4 more
2003British Journal of Cancer57 citations Open access
Semantic Scholar
Cell Line and DNA Biobank From Patients Affected by Genetic Diseases
M. Filocamo, R. Mazzotti, F. Corsolini, M. Stroppiano +7 more
201451 citations Open access
Semantic Scholar
Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations
S. Grossi, S. Regis, R. Biancheri, M. Mort +14 more
2011Orphanet Journal of Rare Diseases40 citations Open access
Semantic Scholar
Characterization of iduronate‐2‐sulfatase gene–pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR‐based method
S. Lualdi, S. Regis, M. Dirocco, F. Corsolini +3 more
2005Human Mutation37 citations Open access
Semantic Scholar
Molecular analysis of the HEXA gene in Italian patients with infantile and late Onset Tay‐Sachs disease: detection of fourteen novel alleles
A. Montalvo, M. Filocamo, Kristian Vlahoviček, A. Dardis +4 more
2005Human Mutation37 citations Open access
Semantic Scholar
Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms.
S. Lualdi, M. Dirocco, F. Corsolini, M. Spada +6 more
2006Biochimica et Biophysica Acta35 citations Open access
Semantic Scholar
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study
Alessandra Zanetti, F. D'Avanzo, L. Rigon, A. Rampazzo +8 more
2019European Journal of Pediatrics34 citations Open access
Semantic Scholar
FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII)
Stefania Bellesso, M. Salvalaio, S. Lualdi, Elisa Tognon +8 more
2018Human Molecular Genetics27 citations Open access
Semantic Scholar
Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes
A. Ługowska, Katarzyna Hetmańczyk-Sawicka, R. Iwanicka-Nowicka, A. Fogtman +8 more
2019Scientific Reports26 citations Open access
Semantic Scholar
ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study
M. Filosto, M. Aureli, B. Castellotti, F. Rinaldi +9 more
2016European Journal of Human Genetics26 citations Open access
Semantic Scholar
Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts
S. Lualdi, M. G. Pittis, S. Regis, R. Parini +4 more
2006Journal of molecular medicine25 citations
Semantic Scholar
Genotype–phenotype correlation in five Pelizaeus–Merzbacher disease patients with PLP1 gene duplications
S. Regis, R. Biancheri, E. Bertini, A. Burlina +6 more
2008Clinical Genetics22 citations
Semantic Scholar
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
Nicola Bedoni, M. Quinodoz, M. Pinelli, G. Cappuccio +15 more
2020Human Molecular Genetics21 citations Open access
Semantic Scholar
Enigmatic In Vivo iduronate‐2‐sulfatase (IDS) mutant transcript correction to wild‐type in Hunter syndrome
S. Lualdi, B. Tappino, M. Di Duca, A. Dardis +9 more
2010Human Mutation20 citations Open access
Semantic Scholar
Diagnosis of Pelizaeus–Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR
S. Regis, S. Grossi, S. Lualdi, R. Biancheri +1 more
2005Neurogenetics20 citations
Semantic Scholar
Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation
F. Lonardo, P. di Natale, S. Lualdi, F. Acquaviva +7 more
2014American Journal of Medical Genetics. Part A16 citations
Semantic Scholar
Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations
M. Severino, S. Lualdi, C. Fiorillo, P. Striano +6 more
2018Journal of Neurology11 citations
Semantic Scholar
A transcriptional and post-transcriptional dysregulation of Dishevelled 1 and 2 underlies the Wnt signaling impairment in type I Gaucher disease experimental models.
Roberto Costa, Stefania Bellesso, S. Lualdi, Rosa Manzoli +3 more
2019Human Molecular Genetics5 citations Open access
Semantic Scholar
Spontaneous regression of hypertrophic cardiomyopathy in an infant with Pompe's disease.
M. Spada, D. Garelli, C. Riggi, V. Pagliardini +3 more
2012Molecular Genetics and Metabolism4 citations
Semantic Scholar
FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII).
Stefania Bellesso, M. Salvalaio, S. Lualdi, Elisa Tognon +8 more
2018Human Molecular Genetics3 citations Open access
Semantic Scholar
Neonatal chitotriosidase activity is not predictive for Niemann-Pick disease type A/B: implications for newborn screening for lysosomal storage disorders.
Francesco Porta, V. Pagliardini, C. Barbera, P. Calvo +4 more
2013Molecular Genetics and Metabolism3 citations
Semantic Scholar
Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient.
S. Regis, S. Lualdi, A. Biffi, M. Sessa +3 more
2006Molecular Genetics and Metabolism3 citations
Semantic Scholar
Mutation identification of Fabry disease in families with other lysosomal storage disorders
A. Zampetti, L. Fania, D. Antuzzi, F. Giurdanella +6 more
2013Clinical Genetics2 citations Open access
Semantic Scholar
In vitro recapitulation of the site‐specific editing (to wild‐type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs
S. Lualdi, G. Del Zotto, O. Zegarra-Moran, N. Pedemonte +8 more
2017Human Mutation1 citations Open access
Semantic Scholar

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