SNPLims: a data management system for genome wide association studies

por Orro, Alessandro, Guffanti, Guia, Salvi, Erika, Macciardi, Fabio, Milanesi, Luciano
Publicado 2008

Modelling the interaction of steroid receptors with endocrine disrupting chemicals

por D'Ursi, Pasqualina, Salvi, Erika, Fossa, Paola, Milanesi, Luciano, Rovida, Ermanna
Publicado 2005

Archival skin biopsy specimens as a tool for miRNA-based diagnosis: Technical and post-analytical considerations

por Andelic, Mirna, Marchi, Margherita, Marcuzzo, Stefania, Lombardi, Raffaella, Faber, Catharina G., Lauria, Giuseppe, Salvi, Erika
Publicado 2023

Diagnostic criteria for small fibre neuropathy in clinical practice and research

por Devigili, Grazia, Rinaldo, Sara, Lombardi, Raffaella, Cazzato, Daniele, Marchi, Margherita, Salvi, Erika, Eleopra, Roberto, Lauria, Giuseppe
Publicado 2019

Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A

por Marchi, Margherita, D'Amato, Ilaria, Andelic, Mirna, Cartelli, Daniele, Salvi, Erika, Lombardi, Raffaella, Gumus, Evren, Lauria, Giuseppe
Publicado 2022

A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia

por Marchi, Margherita, Provitera, Vincenzo, Nolano, Maria, Romano, Marcello, Maccora, Simona, D'Amato, Ilaria, Salvi, Erika, Gerrits, Monique, Santoro, Lucio, Lauria, Giuseppe
Publicado 2018

Computational pipeline to probe NaV1.7 gain-of-function variants in neuropathic painful syndromes

por Toffano, Alberto A., Chiarot, Giacomo, Zamuner, Stefano, Marchi, Margherita, Salvi, Erika, Waxman, Stephen G., Faber, Catharina G., Lauria, Giuseppe, Giacometti, Achille, Simeoni, Marta
Publicado 2020

Hippocampal Atrophy as a Quantitative Trait in a Genome-Wide Association Study Identifying Novel Susceptibility Genes for Alzheimer's Disease

por Potkin, Steven G., Guffanti, Guia, Lakatos, Anita, Turner, Jessica A., Kruggel, Frithjof, Fallon, James H., Saykin, Andrew J., Orro, Alessandro, Lupoli, Sara, Salvi, Erika, Weiner, Michael, Macciardi, Fabio
Publicado 2009

Genes Involved in Vasoconstriction and Vasodilation System Affect Salt-Sensitive Hypertension

por Citterio, Lorena, Simonini, Marco, Zagato, Laura, Salvi, Erika, Delli Carpini, Simona, Lanzani, Chiara, Messaggio, Elisabetta, Casamassima, Nunzia, Frau, Francesca, D'Avila, Francesca, Cusi, Daniele, Barlassina, Cristina, Manunta, Paolo
Publicado 2011

A novel network analysis approach reveals DNA damage, oxidative stress and calcium/cAMP homeostasis-associated biomarkers in frontotemporal dementia

por Palluzzi, Fernando, Ferrari, Raffaele, Graziano, Francesca, Novelli, Valeria, Rossi, Giacomina, Galimberti, Daniela, Rainero, Innocenzo, Benussi, Luisa, Nacmias, Benedetta, Bruni, Amalia C., Cusi, Daniele, Salvi, Erika, Borroni, Barbara, Grassi, Mario
Publicado 2017

Association Analysis of Noncoding Variants in Neuroligins 3 and 4X Genes with Autism Spectrum Disorder in an Italian Cohort

por Landini, Martina, Merelli, Ivan, Raggi, M. Elisabetta, Galluccio, Nadia, Ciceri, Francesca, Bonfanti, Arianna, Camposeo, Serena, Massagli, Angelo, Villa, Laura, Salvi, Erika, Cusi, Daniele, Molteni, Massimo, Milanesi, Luciano, Marabotti, Anna, Mezzelani, Alessandra
Publicado 2016

The PINK1 p.Asn521Thr Variant Is Associated with Earlier Disease Onset in GRN/C9orf72 Frontotemporal Lobar Degeneration

por Rossi, Giacomina, Salvi, Erika, Benussi, Luisa, Mehmeti, Elkadia, Geviti, Andrea, Bellini, Sonia, Longobardi, Antonio, Facconi, Alessandro, Carrara, Matteo, Bonvicini, Cristian, Nicsanu, Roland, Saraceno, Claudia, Ricci, Martina, Giaccone, Giorgio, Binetti, Giuliano, Ghidoni, Roberta
Publicado 2022

Muscle and Muscle-like Autoantigen Expression in Myasthenia Gravis Thymus: Possible Molecular Hint for Autosensitization

por Iacomino, Nicola, Scandiffio, Letizia, Conforti, Fabio, Salvi, Erika, Tarasco, Maria Cristina, Bortone, Federica, Marcuzzo, Stefania, Simoncini, Ornella, Andreetta, Francesca, Pistillo, Daniela, Voulaz, Emanuele, Alloisio, Marco, Antozzi, Carlo, Mantegazza, Renato, De Pas, Tommaso Martino, Cavalcante, Paola
Publicado 2023

Dissecting the Polygenic Basis of Primary Hypertension: Identification of Key Pathway-Specific Components

por Maj, Carlo, Salvi, Erika, Citterio, Lorena, Borisov, Oleg, Simonini, Marco, Glorioso, Valeria, Barlassina, Cristina, Glorioso, Nicola, Thijs, Lutgarde, Kuznetsova, Tatiana, Cappuccio, Francesco P., Zhang, Zhen-Yu, Staessen, Jan A., Cusi, Daniele, Lanzani, Chiara, Manunta, Paolo
Publicado 2022

Identification of a cytokine profile in serum and cerebrospinal fluid of pediatric and adult spinal muscular atrophy patients and its modulation upon nusinersen treatment

por Bonanno, Silvia, Cavalcante, Paola, Salvi, Erika, Giagnorio, Eleonora, Malacarne, Claudia, Cattaneo, Marco, Andreetta, Francesca, Venerando, Anna, Pensato, Viviana, Gellera, Cinzia, Zanin, Riccardo, Arnoldi, Maria Teresa, Dosi, Claudia, Mantegazza, Renato, Masson, Riccardo, Maggi, Lorenzo, Marcuzzo, Stefania
Publicado 2022

Peripheral Ion Channel Genes Screening in Painful Small Fiber Neuropathy

por Ślęczkowska, Milena, Almomani, Rowida, Marchi, Margherita, Salvi, Erika, de Greef, Bianca T A, Sopacua, Maurice, Hoeijmakers, Janneke G J, Lindsey, Patrick, Waxman, Stephen G, Lauria, Giuseppe, Faber, Catharina G, Smeets, Hubert J M, Gerrits, Monique M
Publicado 2022

Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort

por Rossi, Giacomina, Salvi, Erika, Mehmeti, Elkadia, Ricci, Martina, Villa, Cristina, Prioni, Sara, Moda, Fabio, Di Fede, Giuseppe, Tiraboschi, Pietro, Redaelli, Veronica, Coppola, Cinzia, Koch, Giacomo, Canu, Elisa, Filippi, Massimo, Agosta, Federica, Giaccone, Giorgio, Caroppo, Paola
Publicado 2022

Left ventricular diastolic function associated with common genetic variation in ATP12A in a general population

por Knez, Judita, Salvi, Erika, Tikhonoff, Valérie, Stolarz-Skrzypek, Katarzyna, Ryabikov, Andrew, Thijs, Lutgarde, Braga, Daniele, Kloch-Badelek, Malgorzata, Malyutina, Sofia, Casiglia, Edoardo, Czarnecka, Danuta, Kawecka-Jaszcz, Kalina, Cusi, Daniele, Nawrot, Tim, Staessen, Jan A, Kuznetsova, Tatiana
Publicado 2014

Identification of NF-κB and PLCL2 as new susceptibility genes and highlights on a potential role of IRF8 through interferon signature modulation in systemic sclerosis

por Arismendi, Maria, Giraud, Matthieu, Ruzehaji, Nadira, Dieudé, Philippe, Koumakis, Eugenie, Ruiz, Barbara, Airo, Paolo, Cusi, Daniele, Matucci-Cerinic, Marco, Salvi, Erika, Cuomo, Giovanna, Hachulla, Eric, Diot, Elisabeth, Caramaschi, Paola, Riccieri, Valeria, Avouac, Jérôme, Kayser, Cristiane, Allanore, Yannick
Publicado 2015

Interaction between polyphenols intake and PON1 gene variants on markers of cardiovascular disease: a nutrigenetic observational study

por Rizzi, Federica, Conti, Costanza, Dogliotti, Elena, Terranegra, Annalisa, Salvi, Erika, Braga, Daniele, Ricca, Flavia, Lupoli, Sara, Mingione, Alessandra, Pivari, Francesca, Brasacchio, Caterina, Barcella, Matteo, Chittani, Martina, D’Avila, Francesca, Turiel, Maurizio, Lazzaroni, Monica, Soldati, Laura, Cusi, Daniele, Barlassina, Cristina
Publicado 2016