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List of works by Fabio Acquaviva

DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients.

scientific article published on 12 August 2008

Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit

scientific article published on 10 November 2010

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation

scientific article published on 28 September 2016

Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia

scientific article published on 17 April 2009

Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF).

scientific article

Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation

scientific article published on 08 July 2014

PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia

scientific article

PPAR-gamma agonist Azelaoyl PAF increases frataxin protein and mRNA expression: new implications for the Friedreich's ataxia therapy.

scientific article

Phenotypic Screening for Friedreich Ataxia Using Random shRNA Selection

scientific article published on 18 August 2015

Recombinant human erythropoietin increases frataxin protein expression without increasing mRNA expression

scientific article published on 01 January 2008

SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly.

scientific article

Science, art, and mistery in the statues and in the anatomical machines of the prince of sansevero: the masterpieces of the "Sansevero Chapel".

scientific article published on 3 October 2013

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