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List of works by Giulia Soldà

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Long noncoding RNAs in mouse embryonic stem cell pluripotency and differentiation

scientific article
A transcriptional sketch of a primary human breast cancer by 454 deep sequencing

scientific article
Expression of distinct RNAs from 3' untranslated regions

scientific article
Survival and dementia in GBA-associated Parkinson's disease: The mutation matters

scientific article
Genetic association and altered gene expression of mir-155 in multiple sclerosis patients

scientific article published on December 2011
A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing

scientific article
Glucocerebrosidase mutations in primary parkinsonism

scientific article
The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis.

scientific article published on 07 March 2017
No association of GBA mutations and multiple system atrophy.

scientific article published in April 2013
Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis

scientific article
Non-random retention of protein-coding overlapping genes in Metazoa

scientific article
The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p

scientific article published on 5 October 2017
In vivo RNA-RNA duplexes from human alpha3 and alpha5 nicotinic receptor subunit mRNAs

scientific article
An Ariadne's thread to the identification and annotation of noncoding RNAs in eukaryotes.

scientific article published on 21 April 2009
DNAJC12 and dopa-responsive nonprogressive parkinsonism

scientific article published on 11 September 2017
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.

scientific article published on 10 December 2015
TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations

scientific article
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

scientific article
Next-generation sequencing analysis of miRNA expression in control and FSHD myogenesis

scientific article
Molecular characterization of in-frame and out-of-frame alternative splicings in coagulation factor XI pre-mRNA.

scientific article published on 30 December 2009
Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency

scientific article published on 27 November 2014
miR-634 is a Pol III-dependent intronic microRNA regulating alternative-polyadenylated isoforms of its host gene PRKCA.

scientific article published on 14 February 2017
Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.

scientific article published on 18 December 2013
Fine Characterization of the Recurrent c.1584+18672A>G Deep-Intronic Mutation in the Cystic Fibrosis Transmembrane Conductance Regulator Gene

article
Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect

scientific article published on 01 March 2008
Meta-Analysis of Multiple Sclerosis Microarray Data Reveals Dysregulation in RNA Splicing Regulatory Genes.

scientific article
In-depth characterization of breast cancer tumor-promoting cell transcriptome by RNA sequencing and microarrays

scientific article published on 3 November 2015
Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis.

scientific article published on 4 August 2016
The Asp620asn mutation in VPS35 is not a common cause of familial Parkinson's disease

scientific article published on 25 January 2012
Improving mRNA 5' coding sequence determination in the mouse genome

scientific article published on 7 February 2014
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis

scientific article
Not only cancer: the long non-coding RNA MALAT1 affects the repertoire of alternatively spliced transcripts and circular RNAs in multiple sclerosis

scientific article published on 01 May 2019
Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript

scientific article
Tumor-derived prostaglandin E2 promotes p50 NF-κB-dependent differentiation of monocytic MDSC

scientific article published on 07 April 2020
4q-D4Z4 chromatin architecture regulates the transcription of muscle atrophic genes in facioscapulohumeral muscular dystrophy

scientific article published on 16 May 2019
Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites

article
A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest

scientific article published on 10 May 2018
First Replication of the Involvement of in Intellectual Disability Syndrome With Seizures and Dysmorphic Features

scientific article published on 10 October 2018
Genetic Association and Altered Gene Expression of in Multiple Sclerosis Patients

article
Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss

scientific article published in 2022
The SPID-GBA study: Sex distribution, Penetrance, Incidence, and Dementia in GBA-PD

scientific article published on 20 October 2020
Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions

scientific article published on 17 December 2018

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