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

List of works by Letizia Straniero

1-12 of 12 results

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

scientific article published on 5 October 2017
DNAJC12 and dopa-responsive nonprogressive parkinsonism

scientific article published on 11 September 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
2,6-Difluorobenzamide Inhibitors of Bacterial Cell Division Protein FtsZ: Design, Synthesis, and Structure-Activity Relationships.

scientific article published on 6 June 2017
The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP+ Treatment by Altering LRRK2 Binding to DRP1.

scientific article published on 28 February 2018
Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis.

scientific article published on 4 August 2016
Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay

scientific article published on 30 November 2014
Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites

article
A rapid and low-cost test for screening the most common Parkinson's disease-related GBA variants

scientific article published on 22 September 2020
A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia

scientific article published on 2 February 2021
The SPID-GBA study: Sex distribution, Penetrance, Incidence, and Dementia in GBA-PD

scientific article published on 20 October 2020
Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations

scientific article published on 13 July 2020

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