Susanna Lualdi

Genoa, 16147, Italy

Last Updated: 09/26/2026

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Found 14 publications

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

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

Journal: Human molecular genetics

Published: April 14, 2020

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

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

Journal: Human molecular genetics

Published: November 05, 2019

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

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

Journal: Scientific reports

Published: January 03, 2019

Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.

Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.

Journal: European journal of pediatrics

Published: October 18, 2018

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

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

Journal: Human molecular genetics

Published: June 20, 2018

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

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

Journal: Human molecular genetics

Published: March 07, 2018

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

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

Journal: Journal of neurology

Published: December 22, 2017

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.

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.

Journal: Human mutation

Published: November 08, 2016

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

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

Journal: European journal of human genetics : EJHG

Published: October 30, 2015

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

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

Journal: Human mutation

Published: June 08, 2015

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

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

Journal: American journal of medical genetics. Part A

Published: March 01, 2014

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

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

Journal: Molecular genetics and metabolism

Published: November 08, 2012

Showing 1-12 of 14

Last Updated: 09/26/2026