Publications by authors named "Emilio Di Maria"

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Carlotta Gualco, Nora Gattiglia, Mara Morelli, Ilaria Galasso, Stefania Muzi, Emilio Di Maria

Recenti Prog Med· November 2025

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Highly variable genomic methylation in the Beckwith-Wiedemann syndrome associated with multi-locus imprinting disturbances.
Francesco Cecere, Laura Pignata, Emilia D'Angelo, Carlo Giaccari, Abu Saadat, Emilio Di Maria

Clin Epigenetics· October 2025

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Neuropsychological assessment in cognitively healthy nonagenarians and centenarians: an updated systematic review and meta-analysis.
Carlotta Gualco, Paola Del Sette, Carlo Chiorri, Emilio Di Maria

Exp Gerontol· September 2025

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Evaluating an intervention to promote access to mental healthcare for low language proficient migrants and refugees across Europe (MentalHealth4All): study protocol for a pretest-post-test cross-national survey study.
Liza G G van Lent, Sona Hodakova, Saskia Hanft-Robert, Mike Mösko, Chiara Rao, Emilio Di Maria

BMJ Open· July 2025

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A novel gene splicing variant (c.1617-2A>C) in a heterozygous carrier with hereditary spastic paraplegia.
Elvira Sbragia, Andrea Assini, Silvia Calzavara, Paola Carrera, Claudio Marcello Solaro, Emilio Di Maria

eNeurologicalSci· June 2024

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Communication in refugee and migrant mental healthcare: A systematic rapid review on the needs, barriers and strategies of seekers and providers of mental health services.
Demi Krystallidou, Özlem Temizöz, Fang Wang, Melanie de Looper, Emilio Di Maria

Health Policy· January 2024

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External validation of unsupervised COVID-19 clinical phenotypes and their prognostic impact.
Daniele Roberto Giacobbe, Emilio Di Maria, Alberto Stefano Tagliafico, Martina Bavastro, Carlo Simone Trombetta, Maria Pia Sormani

Ann Med· December 2023

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Penetrance of the V203I variant of the PRNP gene: report of a patient with stroke-like onset of Creutzfeld-Jacob Disease and review of published cases.
Ilaria Gandoglia, Laura Strada, Anna Poleggi, Antonio Castaldi, Massimo Del Sette, Emilio Di Maria

Prion· December 2022

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Disclosure of Genetic Risk Factors for Alzheimer's Disease to Cognitively Healthy Individuals-From Current Practice towards a Personalised Medicine Scenario.
Samantha Galluzzi, Michela Pievani, Orazio Zanetti, Luisa Benussi, The Italian-DIAfN Working Group, Emilio Di Maria

Biomedicines· December 2022

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Psychological Impact of Predictive Genetic Testing for Inherited Alzheimer Disease and Frontotemporal Dementia: The IT-DIAfN Protocol.
Samantha Galluzzi, Anna Mega, Giuseppe Di Fede, Cristina Muscio, Sara Fascendini, Emilio Di Maria

Alzheimer Dis Assoc Disord· May 2022

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Corrigendum to "Naringerin as candidate drug against SARS-CoV-2: The role for TPC2 genomic variants in COVID-19" [Pharmacol. Res. 164 (2021) 105402].
Emilio Di Maria, Paolo Martini, Massimo Gennarelli

Pharmacol Res· June 2021

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Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions.
Cecilie Bredrup, Ileana Cristea, Leen Abu Safieh, Emilio Di Maria, Bjørn Tore Gjertsen

Hum Mol Genet· March 2021

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Naringerin as candidate drug against SARS-CoV-2: The role for TPC2 genomic variants in COVID-19.
Emilio Di Maria, Paolo Martini, Massimo Gennarelli

Pharmacol Res· February 2021

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Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol.
Anna Mega, Samantha Galluzzi, Cristian Bonvicini, Silvia Fostinelli, Massimo Gennarelli, Emilio Di Maria

Alzheimers Res Ther· November 2020

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Genetic variants of the human host influencing the coronavirus-associated phenotypes (SARS, MERS and COVID-19): rapid systematic review and field synopsis.
Emilio Di Maria, Andrea Latini, Paola Borgiani, Giuseppe Novelli

Hum Genomics· September 2020

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Predicting Response to Neoadjuvant Therapy in Colorectal Cancer Patients the Role of Messenger-and Micro-RNA Profiling.
Alberto Izzotti, Chiara Ceccaroli, Marta Geretto, Filippo Grillo Ruggieri, Sara Schenone, Emilio Di Maria

Cancers (Basel)· June 2020

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Next Generation Sequencing Analysis in Early Onset Dementia Patients.
Cristian Bonvicini, Catia Scassellati, Luisa Benussi, Emilio Di Maria, Carlo Maj

J Alzheimers Dis· March 2020

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A proposal of a new evaluation framework towards implementation of genetic tests.
Erica Pitini, Elvira D'Andrea, Corrado De Vito, Annalisa Rosso, Brigid Unim, Emilio Di Maria

PLoS One· March 2020

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Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman.
Patrizia Del Monte, Carla Micaela Cuttica, Alessandro Marugo, Luca Foppiani, Daniela Audenino, Emilio Di Maria

Case Rep Endocrinol· January 2019

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Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.
Linda Xu, Hanne Jensen, Jennifer J Johnston, Emilio Di Maria, Katja Kloth

Am J Hum Genet· December 2018

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How is genetic testing evaluated? A systematic review of the literature.
Erica Pitini, Corrado De Vito, Carolina Marzuillo, Elvira D'Andrea, Annalisa Rosso, Emilio Di Maria

Eur J Hum Genet· May 2018

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Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol.
Martina Bocchetta, Anna Mega, Livia Bernardi, Emilio Di Maria, Luisa Benussi

J Alzheimers Dis· December 2016

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Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: a variant of polyfibromatosis?
Elisa Cinotti, Giulio Ferrero, Francesco Paparo, Marina Papadia, Francesca Faravelli, Emilio Di Maria

Am J Med Genet A· June 2013

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The policy of public health genomics in Italy.
Benedetto Simone, Walter Mazzucco, Maria Rosaria Gualano, Antonella Agodi, Domenico Coviello, Emilio Di Maria

Health Policy· May 2013

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3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?
Giorgia Mandrile, Anna Dubois, Jodi D Hoffman, Vera Uliana, Emilio Di Maria

Eur J Med Genet· April 2013

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