S. Lualdi

发表

An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.

N. Brunetti‐Pierri, C. Rivolta, M. Filocamo, 2020, Human molecular genetics.

FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII)

R. Tomanin, M. Filocamo, P. Braghetta, 2018, Human molecular genetics.

Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations

P. Striano, G. De Michele, C. Bruno, 2018, Journal of Neurology.

A transcriptional and post-transcriptional dysregulation of Dishevelled 1 and 2 underlies the Wnt signaling impairment in type I Gaucher disease experimental models.

M. Filocamo, R. Costa, S. Lualdi, 2019, Human molecular genetics.

Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes

R. Płoski, M. Filocamo, Marta Koblowska, 2019, Scientific Reports.

Cell Line and DNA Biobank From Patients Affected by Genetic Diseases

S. Grossi, F. Corsolini, R. Biancheri, 2014 .

Inhibition of telomerase activity by a distamycin derivative: effects on cell proliferation and induction of apoptosis in human cancer cells.

M. Daidone, N. Zaffaroni, L. Orlandi, 2002, European journal of cancer.

Inhibition of telomerase activity by a hammerhead ribozyme targeting the RNA component of telomerase in human melanoma cells.

M. Daidone, N. Zaffaroni, R. Villa, 2000, The Journal of investigative dermatology.

Mutation identification of Fabry disease in families with other lysosomal storage disorders

M. Filocamo, A. Morrone, S. Lualdi, 2013, Clinical genetics.

Diagnosis of Pelizaeus–Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR

S. Regis, S. Grossi, R. Biancheri, 2005, Neurogenetics.

Spontaneous regression of hypertrophic cardiomyopathy in an infant with Pompe's disease.

M. Filocamo, S. Lualdi, F. Porta, 2012, Molecular genetics and metabolism.

Expression of costimulatory molecules in human neuroblastoma. Evidence that CD40+ neuroblastoma cells undergo apoptosis following interaction with CD40L

S. Bruno, V. Pistoia, C. Gambini, 2003, British Journal of Cancer.

Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient.

S. Regis, F. Corsolini, M. Filocamo, 2006, Molecular Genetics and Metabolism.

Identification and Characterization of 15 Novel GALC Gene Mutations Causing Krabbe Disease

D. Cooper, M. Mort, B. Bembi, 2010, Human mutation.

Molecular analysis of the HEXA gene in Italian patients with infantile and late Onset Tay‐Sachs disease: detection of fourteen novel alleles

K. Vlahovicek, B. Bembi, F. Corsolini, 2005, Human mutation.

ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study

B. Castellotti, C. Gellera, A. Padovani, 2016, European Journal of Human Genetics.

Genotype–phenotype correlation in five Pelizaeus–Merzbacher disease patients with PLP1 gene duplications

E. Bertini, G. Uziel, S. Regis, 2008, Clinical genetics.

Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

E. Bertini, D. Cooper, M. Mort, 2011, Orphanet journal of rare diseases.

Molecular Genetic Analysis of the PLP 1 Gene in 38 Families with PLP 1-related disorders : Identification and Functional Characterization of 11 Novel PLP 1 Mutations

E. Bertini, D. Cooper, M. Mort, 2011 .

Characterization of iduronate‐2‐sulfatase gene–pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR‐based method

S. Regis, F. Corsolini, M. Filocamo, 2005, Human mutation.

Enigmatic In Vivo iduronate‐2‐sulfatase (IDS) mutant transcript correction to wild‐type in Hunter syndrome

D. Cooper, B. Bembi, S. Regis, 2010, Human mutation.

Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts

B. Bembi, S. Regis, M. Filocamo, 2006, Journal of Molecular Medicine.

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.

B. Bembi, F. Corsolini, M. Filocamo, 2006, Biochimica et biophysica acta.

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants

B. Bembi, M. Filocamo, R. Sinnott, 2016, Human mutation.

Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation

G. Scarano, M. Filocamo, L. Pavone, 2014, American journal of medical genetics. Part A.

Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study

R. Tomanin, L. Santoro, N. Volpi, 2019, European Journal of Pediatrics.

Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes

R. Płoski, M. Filocamo, Marta Koblowska, 2019, Scientific Reports.

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

D. Cooper, N. Pedemonte, F. Corsolini, 2017, Human mutation.

Neonatal chitotriosidase activity is not predictive for Niemann-Pick disease type A/B: implications for newborn screening for lysosomal storage disorders.

M. Filocamo, P. Calvo, S. Lualdi, 2013, Molecular genetics and metabolism.