Emiliano Giardina
Università degli Studi di Roma Tor Vergata
H-index: 39
Europe-Italy
Top articles of Emiliano Giardina
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Innovations in Medicine: Exploring ChatGPT’s Impact on Rare Disorder Management | Stefania Zampatti Cristina Peconi Domenica Megalizzi Giulia Calvino Giulia Trastulli | 2024/3/28 | |
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families | Clinical Genetics | Claudia Strafella Luca Colantoni Domenica Megalizzi Giulia Trastulli Emma Proietti Piorgo | 2024/3 |
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and … | Frontiers in Neurology | Emiliano Giardina Paola Mandich Roberta Ghidoni Nicola Ticozzi Giacomina Rossi | 2024/1/31 |
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study | Movement Disorders | Alessio Di Fonzo Marco Percetti Edoardo Monfrini Ilaria Palmieri Alberto Albanese | 2023/12 |
Longitudinal Structure–Function Evaluation in a Patient with CDHR1-Associated Retinal Dystrophy: Progressive Visual Function Loss with Retinal Remodeling | Diagnostics | Andrea Cusumano Benedetto Falsini Fabian D’Apolito Michele D’Ambrosio Jacopo Sebastiani | 2023/1/20 |
Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report | Genes | Ludovico Graziani Stefania Zampatti Miriam Lucia Carriero Chiara Minotti Cristina Peconi | 2023/8/6 |
Primary and Recall Immune Responses to SARS-CoV-2 in Breakthrough Infection | Vaccines | Silvia D’Orso Marta Pirronello Alice Verdiani Angelo Rossini Gisella Guerrera | 2023/11/9 |
长链非编码 RNA 作为神经退行性疾病的表观遗传调控因子 | 中国神经再生研究 (英文版) | Paola Ruffo Francesca De Amicis Emiliano Giardina Francesca Luisa Conforti | 2023/6/15 |
Epigenetic profiling of the D4Z4 locus: Optimization of the protocol for studying DNA methylation at single CpG site level | Electrophoresis | Domenica Megalizzi Giulia Trastulli Valerio Caputo Luca Colantoni Carlo Caltagirone | 2023/10 |
Long-noncoding RNAs as epigenetic regulators in neurodegenerative diseases | Paola Ruffo Francesca De Amicis Emiliano Giardina Francesca Luisa Conforti | 2023/6/1 | |
Autophagy increase in merosin-deficient congenital muscular dystrophy type 1a | European Journal of Translational Myology | Mariangela Mastrapasqua Roberta Rossi Lucrezia De Cosmo Annalisa Resta Mariella Errede | 2023/9/9 |
NIPAT as Non-Invasive Prenatal Paternity Testing Using a Panel of 861 SNVs | Genes | Riccardo Giannico Luca Forlani Valentina Andrioletti Ettore Cotroneo Andrea Termine | 2023/1/25 |
Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD | Frontiers in Genetics | Claudia Strafella Valerio Caputo Sara Bortolani Eleonora Torchia Domenica Megalizzi | 2023/8/22 |
Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by … | Frontiers in Neurology | Rosangela Ferese Simona Scala Antonio Suppa Rosa Campopiano Francesco Asci | 2023/12/7 |
Long-Term Structural and Functional Assessment of Doyne Honeycomb Retinal Dystrophy following Nanosecond 2RT Laser Treatment: A Case Series | Case Reports in Ophthalmology | Andrea Cusumano Benedetto Falsini Michele D'Ambrosio Fabian D'Apolito Jacopo Sebastiani | 2023/1/20 |
A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy | Genes | Stefania Zampatti Cristina Peconi Giulia Calvino Rosangela Ferese Stefano Gambardella | 2023/8/21 |
A perspective on diet, epigenetics and complex diseases: where is the field headed next? | Fabio Coppedè Marica Franzago Emiliano Giardina Cristiana Lo Nigro Giuseppe Matullo | 2022/10 | |
C9orf72-related neurodegenerative diseases: From clinical diagnosis to therapeutic strategies | Stefania Zampatti Cristina Peconi Rosa Campopiano Stefano Gambardella Carlo Caltagirone | 2022/6/10 | |
Tracking the initial diffusion of SARS-CoV-2 omicron variant in Italy by RT-PCR and comparison with Alpha and Delta variants spreading | Diagnostics | Valerio Caputo Giulia Calvino Claudia Strafella Andrea Termine Carlo Fabrizio | 2022/2/11 |
D4Z4 Methylation Levels Combined with a Machine Learning Pipeline Highlight Single CpG Sites as Discriminating Biomarkers for FSHD Patients | Cells | Valerio Caputo Domenica Megalizzi Carlo Fabrizio Andrea Termine Luca Colantoni | 2022/12/18 |
