F. Acquaviva

发表

Friedreich’s Ataxia: From the (GAA)n Repeat Mediated Silencing to New Promising Molecules for Therapy

D. Marmolino, F. Acquaviva, Daniele Marmolino, 2009, The Cerebellum.

PGE2 inhibits apoptosis in human adenocarcinoma Caco-2 cell line through Ras-PI3K association and cAMP-dependent kinase A activation.

P. Ricchi, V. Leone, F. Acquaviva, 2007, American journal of physiology. Gastrointestinal and liver physiology.

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

G. Scarano, E. Gennaro, M. L. Galli, 2017, Clinical genetics.

RAI 1 gene mutations : mechanisms of Smith – Magenis syndrome

M. Falco, F. Acquaviva, Sonia Amabile, 2017 .

RAI1 gene mutations: mechanisms of Smith–Magenis syndrome

M. Falco, F. Acquaviva, Sonia Amabile, 2017, The application of clinical genetics.

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

D. Geschwind, G. Coppola, M. Pandolfo, 2009 .

Analysis of DTC nutrigenetic services in Italy: state of the art, agreement to the ESHG statement and future outlooks

A. Monticelli, S. Cocozza, M. Pinelli, 2012 .

Genetics of lipedema: new perspectives on genetic research and molecular diagnoses.

K. Herbst, E. Fulcheri, M. Pinelli, 2019, European review for medical and pharmacological sciences.

Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver–Russell Syndrome Spectrum

A. Iolascon, A. Novelli, A. Riccio, 2022, Genes.

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

G. Scarano, M. Sana, M. Pinelli, 2017, American journal of medical genetics. Part A.

Small 4p16.3 deletions: Three additional patients and review of the literature

G. Scarano, M. Digilio, B. Dallapiccola, 2018, American journal of medical genetics. Part A.

Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association

D. Cacchiarelli, M. Cesana, L. Micale, 2022, Human Genetics.

Fibrodysplasia Ossificans Progressiva: A Challenging Diagnosis

M. Di Rocco, F. Acquaviva, D. De Brasi, 2021, Genes.

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

A. Monticelli, A. Filla, S. Cocozza, 2008, Journal of Medical Genetics.

Phenotypic Screening for Friedreich Ataxia Using Random shRNA Selection

Robert B. Wilson, F. Acquaviva, Avinash Kaur, 2015, Journal of biomolecular screening.

Aspirin reduces the outcome of anticancer therapy in Meth A–bearing mice through activation of AKT-glycogen synthase kinase signaling

G. Matarese, P. Ricchi, V. Leone, 2006, Molecular Cancer Therapeutics.

Say‐Barber‐Biesecker‐Young‐Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?

G. Scarano, M. Lonardo, M. Della Monica, 2019, Clinical genetics.

PGC-1alpha Down-Regulation Affects the Antioxidant Response in Friedreich's Ataxia

M. Pandolfo, A. Monticelli, M. Manto, 2010, PloS one.

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

G. Scarano, M. Filocamo, L. Pavone, 2014, American journal of medical genetics. Part A.

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

D. Geschwind, G. Coppola, M. Pandolfo, 2009, Human molecular genetics.

Extra-mitochondrial localisation of frataxin and its association with IscU1 during enterocyte-like differentiation of the human colon adenocarcinoma cell line Caco-2

L. Nezi, A. Monticelli, S. Cocozza, 2005, Journal of Cell Science.

PPAR-γ Agonist Azelaoyl PAF Increases Frataxin Protein and mRNA Expression. New Implications for the Friedreich’s Ataxia Therapy

A. Monticelli, A. Filla, S. Cocozza, 2009, The Cerebellum.

Identification of Candidate Children for Maturity-Onset Diabetes of the Young Type 2 (MODY2) Gene Testing: A Seven-Item Clinical Flowchart (7-iF)

S. Cocozza, S. Zucchini, I. Rabbone, 2013, PLoS ONE.

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

G. De Michele, A. Filla, S. Cocozza, 2011, Movement disorders : official journal of the Movement Disorder Society.

β2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus

A. Monticelli, S. Cocozza, G. Riccardi, 2006, BMC Medical Genetics.

Science, art, and mistery in the statues and in the anatomical machines of the prince of sansevero: The masterpieces of the “Sansevero Chapel”

G. Scarano, D. Galzerano, M. Della Monica, 2013, American Journal of Medical Genetics. Part A.

Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?

M. Carella, O. Palumbo, A. Riccio, 2023, Frontiers in cell and developmental biology.

Recombinant Human Erythropoietin Increases Frataxin Protein Expression Without Increasing mRNA Expression

A. Monticelli, A. Filla, S. Cocozza, 2008, The Cerebellum.

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

A. Monticelli, S. Cocozza, V. Avvedimento, 2008, Journal of Medical Genetics.