BRAT1 Mutation Retrospective Diagnosis: A Case Report

por Vercellino, Fabiana, Valerio, Massimo, Dusio, Maria Pia, Spano, Alice, D'Alfonso, Sandra
Publicado 2023

The Impact of Lifetime Alcohol and Cigarette Smoking Loads on Multiple Sclerosis Severity

por Ivashynka, Andrei, Copetti, Massimiliano, Naldi, Paola, D'Alfonso, Sandra, Leone, Maurizio A.
Publicado 2019

A Scoping Review on Body Fluid Biomarkers for Prognosis and Disease Activity in Patients with Multiple Sclerosis

por Barizzone, Nadia, Leone, Maurizio, Pizzino, Alessandro, Kockum, Ingrid, Martinelli-Boneschi, Filippo, D’Alfonso, Sandra
Publicado 2022

COVID-19 and Health Outcomes in People with Multiple Sclerosis: A Population-Based Study in Italy

por Gnavi, Roberto, Eboli, Ilenia, Alboini, Paolo Emilio, D’Alfonso, Sandra, Picariello, Roberta, Costa, Giuseppe, Leone, Maurizio
Publicado 2023

Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review

por Lombardi, Michele, Corrado, Lucia, Piola, Beatrice, Comi, Cristoforo, Cantello, Roberto, D’Alfonso, Sandra, Mazzini, Letizia, De Marchi, Fabiola
Publicado 2023

Rare Variants in the TREX1 Gene and Susceptibility to Autoimmune Diseases

por Barizzone, Nadia, Monti, Sara, Mellone, Simona, Godi, Michela, Marchini, Maurizio, Scorza, Raffaella, Danieli, Maria G., D'Alfonso, Sandra
Publicado 2013

Targeted Next-Generation Sequencing for the Identification of Genetic Predictors of Radiation-Induced Late Skin Toxicity in Breast Cancer Patients: A Preliminary Study

por Cargnin, Sarah, Barizzone, Nadia, Basagni, Chiara, Pisani, Carla, Ferrara, Eleonora, Masini, Laura, D’Alfonso, Sandra, Krengli, Marco, Terrazzino, Salvatore
Publicado 2021

Neuroinflammatory Pathways in the ALS-FTD Continuum: A Focus on Genetic Variants

por De Marchi, Fabiola, Tondo, Giacomo, Corrado, Lucia, Menegon, Federico, Aprile, Davide, Anselmi, Matteo, D’Alfonso, Sandra, Comi, Cristoforo, Mazzini, Letizia
Publicado 2023

Early onset frontotemporal dementia with psychiatric presentation due to the C9ORF72 hexanucleotide repeat expansion: a case report

por Gramaglia, Carla, Cantello, Roberto, Terazzi, Emanuela, Carecchio, Miryam, D’Alfonso, Sandra, Chieppa, Nunzia, Ressico, Francesca, Rizza, Maria Cristina, Zeppegno, Patrizia
Publicado 2014

Next Generation Sequencing of Pooled Samples: Guideline for Variants’ Filtering

por Anand, Santosh, Mangano, Eleonora, Barizzone, Nadia, Bordoni, Roberta, Sorosina, Melissa, Clarelli, Ferdinando, Corrado, Lucia, Martinelli Boneschi, Filippo, D’Alfonso, Sandra, De Bellis, Gianluca
Publicado 2016

Author Correction: Next Generation Sequencing of Pooled Samples: Guideline for Variants’ Filtering

por Anand, Santosh, Mangano, Eleonora, Barizzone, Nadia, Bordoni, Roberta, Sorosina, Melissa, Clarelli, Ferdinando, Corrado, Lucia, Martinelli Boneschi, Filippo, D’Alfonso, Sandra, De Bellis, Gianluca
Publicado 2020

A Census of Tandemly Repeated Polymorphic Loci in Genic Regions Through the Comparative Integration of Human Genome Assemblies

por Genovese, Loredana M., Geraci, Filippo, Corrado, Lucia, Mangano, Eleonora, D'Aurizio, Romina, Bordoni, Roberta, Severgnini, Marco, Manzini, Giovanni, De Bellis, Gianluca, D'Alfonso, Sandra, Pellegrini, Marco
Publicado 2018

HLA alleles modulate EBV viral load in multiple sclerosis

por Agostini, Simone, Mancuso, Roberta, Guerini, Franca R., D’Alfonso, Sandra, Agliardi, Cristina, Hernis, Ambra, Zanzottera, Milena, Barizzone, Nadia, Leone, Maurizio A., Caputo, Domenico, Rovaris, Marco, Clerici, Mario
Publicado 2018

Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series

por Magistrelli, Luca, Croce, Roberta, De Marchi, Fabiola, Basagni, Chiara, Carecchio, Miryam, Nasuelli, Nicola, Cantello, Roberto, Invernizzi, Federica, Garavaglia, Barbara, Comi, Cristoforo, Mazzini, Letizia, D’Alfonso, Sandra, Corrado, Lucia
Publicado 2021

Clinical relevance of single-subject brain metabolism patterns in amyotrophic lateral sclerosis mutation carriers

por Tondo, Giacomo, Mazzini, Letizia, Caminiti, Silvia Paola, Sarnelli, Maria Francesca, Corrado, Lucia, Matheoud, Roberta, D'Alfonso, Sandra, Cantello, Roberto, Sacchetti, Gian Mauro, Perani, Daniela, Comi, Cristoforo, De Marchi, Fabiola
Publicado 2022

Polymorphisms in the genes coding for iron binding and transporting proteins are associated with disability, severity, and early progression in multiple sclerosis

por Gemmati, Donato, Zeri, Giulia, Orioli, Elisa, De Gaetano, Francesca E, Salvi, Fabrizio, Bartolomei, Ilaria, D’Alfonso, Sandra, Dall’Osso, Claudia, Leone, Maurizio A, Singh, Ajay V, Asselta, Rosanna, Zamboni, Paolo
Publicado 2012

The Impact of Osteopontin Gene Variations on Multiple Sclerosis Development and Progression

por Comi, Cristoforo, Cappellano, Giuseppe, Chiocchetti, Annalisa, Orilieri, Elisabetta, Buttini, Sara, Ghezzi, Laura, Galimberti, Daniela, Guerini, Franca, Barizzone, Nadia, Perla, Franco, Leone, Maurizio, D'Alfonso, Sandra, Caputo, Domenico, Scarpini, Elio, Cantello, Roberto, Dianzani, Umberto
Publicado 2012

C9ORF72 Repeat Expansion Affects the Proteome of Primary Skin Fibroblasts in ALS

por Lualdi, Marta, Shafique, Adeena, Pedrini, Edoardo, Pieroni, Luisa, Greco, Viviana, Castagnola, Massimo, Cucina, Giorgia, Corrado, Lucia, Di Pierro, Alice, De Marchi, Fabiola, Camillo, Lara, Colombrita, Claudia, D’Anca, Marianna, Alberio, Tiziana, D’Alfonso, Sandra, Fasano, Mauro
Publicado 2021

Multiple Polymorphisms Affect Expression and Function of the Neuropeptide S Receptor (NPSR1)

por Anedda, Francesca, Zucchelli, Marco, Schepis, Danika, Hellquist, Anna, Corrado, Lucia, D'Alfonso, Sandra, Achour, Adnane, McInerney, Gerald, Bertorello, Alejandro, Lördal, Mikael, Befrits, Ragnar, Björk, Jan, Bresso, Francesca, Törkvist, Leif, Halfvarson, Jonas, Kere, Juha, D'Amato, Mauro
Publicado 2011

Systematic evaluation of genetic mutations in ALS: a population-based study

por Grassano, Maurizio, Calvo, Andrea, Moglia, Cristina, Sbaiz, Luca, Brunetti, Maura, Barberis, Marco, Casale, Federico, Manera, Umberto, Vasta, Rosario, Canosa, Antonio, D’Alfonso, Sandra, Corrado, Lucia, Mazzini, Letizia, Dalgard, Clifton, Karra, Ramita, Chia, Ruth, Traynor, Bryan, Chiò, Adriano
Publicado 2022