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Epigenetic Effects Induced by Methamphetamine and Methamphetamine-Dependent Oxidative Stress

that there is no conflict of interests regarding the publication of this paper. Authors’ Contributions Fiona Limanaqi and Stefano Gambardella contributed equally to this work. References J. S. Fowler

Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease

and Surgery, University of Pisa, Pisa, Italy Correspondence should be addressed to Stefano Gambardella; ti.demoruen@alledrabmag.onafets Received 23 January 2018; Accepted 15 April 2018; Published 21 ... June 2018 Academic Editor: Jan Aasly Copyright © 2018 Stefano Gambardella et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted

Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease

authors declare that they have no conflicts of interest. Authors? Contributions Stefano Gambardella, Stefano Ruggieri, and Francesco Fornai were involved in the conception of the research project. Diego ... Giardina performed the next-generation sequencing analysis. Francesca Biagioni did Sanger sequencing. Stefania Zampatti did genetic counseling. Stefano Gambardella and Francesco Fornai wrote the first draft

Four Copies of SNCA Responsible for Autosomal Dominant Parkinson’s Disease in Two Italian Siblings

Background. Parkinson’s disease (PD) is mostly characterized by alpha-synuclein (SNCA) aggregation and loss of nigrostriatal dopamine-containing neurons. In this study a novel SNCA multiplication is described in two siblings affected by severe parkinsonism featuring early onset dyskinesia, psychiatric symptoms, and cognitive deterioration. Methods. SNCA dosage was performed using...

Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome

Background Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression. TCS is extremely rare, occurring with an incidence of 1 in 50.000 live births. The TCS distinguishing characteristics are represented by down slanting palpebral fissures, coloboma of the eyelid...

New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ?

Background acute recurrent pancreatitis is a complex multigenic disease, the diagnosis is even more difficult when this disease develops in a child. Case Presentation a 6-years old boy, hospitalized with epigastric pain radiating to the back showed high serum levels of serum amylase, lipase, CRP and erythrosedimentation rate. Several similar milder episodes of pain, followed by...

Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients

Background MicroRNAs are highly conserved, noncoding RNAs involved in post-transcriptional gene silencing. They have been shown to participate in a wide range of biological processes, including myogenesis and muscle regeneration. The goal of this study is to test the hypothesis that myo-miRs (myo = muscle + miR = miRNA) expression is altered in muscle from patients affected by...

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy

Background Cystic fibrosis (CF) is a multisystem disorder characterised by mutations of the CFTR gene, which encodes for an important component in the coordination of electrolyte movement across of epithelial cell membranes. Symptoms are pulmonary disease, pancreatic exocrine insufficiency, male infertility and elevated sweat concentrations. The CFTR gene has numerous mutations...