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Authors whose works are in public domain in at least one jurisdiction

List of works by Mirella Filocamo

A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms ⬇️

scientific article published on 01 January 1998

A Novel DHPLC-Based Procedure for the Analysis of COL1A1 and COL1A2 Mutations in Osteogenesis Imperfecta ⬇️

scientific article published on August 30, 2011

A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient ⬇️

scientific article published on 01 July 1997

A deletion involving exons 2–4 in the iduronate‐2‐sulfatase gene of a patient with intermediate Hunter syndrome ⬇️

scientific article published on 01 June 1998

A novel mutation of the β‐glucocererebrosidase gene associated with neurologic manifestations in three sibs ⬇️

scientific article published on 01 April 1998

AIMP1/p43 Mutation and PMLD ⬇️

scientific article published on March 11, 2011

Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase ⬇️

scientific article published on November 14, 2012

Further genotype–phenotype correlation emerging from two families with PLP1 exon 4 skipping ⬇️

scientific article published on May 27, 2013

ITCH regulates degradation of mutant glucocerebrosidase: implications to Gaucher disease ⬇️

scientific article published on December 18, 2012

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

scientific article

Lysosomal lipase deficiency: Molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease ⬇️

scientific article published on December 17, 2011

Lysosomal storage disorders: Molecular basis and laboratory testing ⬇️

scientific article published on March 1, 2011

Unfolded protein response in Gaucher disease: from human to Drosophila ⬇️

scientific article published on September 11, 2013

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

scientific article published on 17 April 2018

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