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List of works by Alessandra Ferlini

A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures

scientific article published in PLoS ONE

Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation.

scientific article published on 5 May 2012

Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping

scientific article published in January 2014

Biodistribution and molecular studies on orally administered nanoparticle-AON complexes encapsulated with alginate aiming at inducing dystrophin rescue in mdx mice

scientific article

Calculating and comparing codon usage values in rare disease genes highlights codon clustering with disease-and tissue- specific hierarchy

scientific article published on 31 March 2022

Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse

scientific article

Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials

scientific article published on 18 November 2011

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

scientific article published on 24 August 2013

Exon Skipping Quantification by Real-Time PCR ⬇️

scientific article published on January 1, 2012

Expression of Laminin Chains in Skin in Merosin-Deficient Congenital Muscular Dystrophy ⬇️

scientific article published on August 1, 1997

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

scientific article published on 13 June 2022

Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study

scientific article published on 18 September 2020

Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

scientific article

Molecular strategies in genetic diagnosis of transthyretin-related hereditary amyloidosis ⬇️

scientific article published on July 1, 1992

Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis ⬇️

scientific article published on May 1, 1998

POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking

scientific article

Persistent dystrophin protein restoration 90 days after a course of intraperitoneally administered naked 2'OMePS AON and ZM2 NP-AON complexes in mdx mice

scientific article published on 2 October 2012

Reduced activity of arylsulfatase A and predisposition to neurological disorders: Analysis of 140 pediatric patients ⬇️

scientific article published on September 1, 1991

SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers

scientific article published on 20 July 2013

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders

scientific article published on 22 July 2017

The 5′ Region of Intron 11 of the Dystrophin Gene Contains Target Sequences for Mobile Elements and Three Overlapping ORFs ⬇️

scientific article published on January 14, 1998

The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice ⬇️

scientific article published on October 30, 2012

Universal neonatal screening for sickle cell disease and other haemoglobinopathies in Ferrara, Italy ⬇️

scientific article published on September 12, 2012

Workload measurement for molecular genetics laboratory: A survey study

scientific article published in PLoS ONE

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