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Lista de obras de Letizia Straniero

2,6-Difluorobenzamide Inhibitors of Bacterial Cell Division Protein FtsZ: Design, Synthesis, and Structure-Activity Relationships.

artículo científico publicado en 2017

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

artículo científico publicado en 2020

DNAJC12 and dopa-responsive nonprogressive parkinsonism

artículo científico publicado en 2017

Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.

artículo científico publicado en 2013

Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay

artículo científico publicado en 2014

Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations

scientific article published on 13 July 2020

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

artículo científico publicado en 2017

The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP+ Treatment by Altering LRRK2 Binding to DRP1.

artículo científico publicado en 2018

The SPID-GBA study: Sex distribution, Penetrance, Incidence, and Dementia in GBA-PD

scientific article published on 20 October 2020

Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites

article

Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis.

artículo científico publicado en 2016

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