Diego Lopergolo

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 23

Top Venues

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

International journal of molecular sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Diego Lopergolo, Gian Nicola Gallus, Giuseppe Pieraccini, Francesca Boscaro, Gianna Berti, Giovanni Serni, Nila Volpi, Patrizia Formichi, Silvia Bianchi, Denise Cassandrini, Vincenzo Sorrentino, Daniela Rossi, Filippo Maria Santorelli, Nicola De Stefano, Alessandro Malandrini
CCDC78 : Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy. Cells 13 (17) (2024)
Sara Aguti, Gian Nicola Gallus, Silvia Bianchi, Simona Salvatore, Anna Rubegni, Gianna Berti, Patrizia Formichi, Nicola De Stefano, Alessandro Malandrini, Diego Lopergolo
Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD). Cells 13 (4) (2024)
Sara Aguti, Gian Nicola Gallus, Silvia Bianchi, Simona Salvatore, Anna Rubegni, Gianna Berti, Patrizia Formichi, Nicola De Stefano, Alessandro Malandrini, Diego Lopergolo
Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD). Cells 13 (4) (2024)
Sara Aguti, Gian Nicola Gallus, Silvia Bianchi, Simona Salvatore, Anna Rubegni, Gianna Berti, Patrizia Formichi, Nicola De Stefano, Alessandro Malandrini, Diego Lopergolo
Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD). Cells 13 (4) (2024)
Sara Aguti, Gian Nicola Gallus, Silvia Bianchi, Simona Salvatore, Anna Rubegni, Gianna Berti, Patrizia Formichi, Nicola De Stefano, Alessandro Malandrini, Diego Lopergolo
Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD). Cells 13 (4) (2024)
Sara Bortolani, Marco Savarese, Gaetano Vattemi, Silvia Bonanno, Yuri Matteo Falzone, Alessia Pugliese, Guido Primiano, Cristina Sancricca, Diego Lopergolo, Giulia Greco, Chiara Gemelli, Sabrina Ravaglia, Roberta P Bencivenga, Daniele Velardo, Francesca Magri, Maria L Valentino, Marta Cheli, Eleonora Torchia, Matteo Lucchini, Antonio Petrucci, Giulia Ricci, Matteo Garibaldi, Guja Astrea, Anna Rubegni, Corrado I Angelini, Alessandra Ariatti, Filippo M Santorelli, Alessandra Ruggieri, Giovanni Antonini, Gabriele Siciliano, Massimiliano Mirabella, Massimiliano Mirabella, Rocco Liguori, Giacomo P Comi, Lucia Ruggiero, Marina Grandis, Roberto Massa, Alessandro Malandrini, Serenella Servidei, Tiziana E Mongini, Carmelo Rodolico, Antonio Toscano, Previtali Stefano Carlo, Paola Tonin, Jordi Diaz-Manera, Mauro Monforte, Enzo Ricci, Lorenzo Maggi, Giorgio Tasca
Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network. Neurology 103 (4) (2024)
Diego Lopergolo, Simona Salvatore, Vincenzo Sorrentino, Alessandro Malandrini, Filippo Maria Santorelli, Carla Battisti
Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutation. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 44 (4) (2023)
Diego Lopergolo, Simona Salvatore, Vincenzo Sorrentino, Alessandro Malandrini, Filippo Maria Santorelli, Carla Battisti
Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutation. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2023)
Diego Lopergolo, Simona Salvatore, Vincenzo Sorrentino, Alessandro Malandrini, Filippo Maria Santorelli, Carla Battisti
Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutation. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 44 (4) (2023)
Claudia Dosi, Anna Rubegni, Jacopo Baldacci, Daniele Galatolo, Stefano Doccini, Guja Astrea, Angela Berardinelli, Claudio Bruno, Giorgia Bruno, Giacomo Pietro Comi, Maria Alice Donati, Maria Teresa Dotti, Massimiliano Mirabella, Chiara Fiorillo, Fabio Giannini, Gian Luigi Gigli, Marina Grandis, Diego Lopergolo, Francesca Magri, Maria Antonietta Maioli, Alessandro Malandrini, Roberto Massa, Sabrina Matà, Federico Melani, Sonia Messina, Andrea Mignarri, Maurizio Moggio, Elena Maria Pennisi, Elena Pegoraro, Giulia Ricci, Michele Sacchini, Angelo Schenone, Simone Sampaolo, Monica Sciacco, Gabriele Siciliano, Giorgio Tasca, Paola Tonin, Rossella Tupler, Mariarosaria Valente, Nila Volpi, Denise Cassandrini, Filippo Maria Santorelli
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1 -Related Myopathies. Genes 14 (2) (2023)
Claudia Dosi, Anna Rubegni, Jacopo Baldacci, Daniele Galatolo, Stefano Doccini, Guja Astrea, Angela Berardinelli, Claudio Bruno, Giorgia Bruno, Giacomo Pietro Comi, Maria Alice Donati, Maria Teresa Dotti, Massimiliano Mirabella, Chiara Fiorillo, Fabio Giannini, Gian Luigi Gigli, Marina Grandis, Diego Lopergolo, Francesca Magri, Maria Antonietta Maioli, Alessandro Malandrini, Roberto Massa, Sabrina Matà, Federico Melani, Sonia Messina, Andrea Mignarri, Maurizio Moggio, Elena Maria Pennisi, Elena Pegoraro, Giulia Ricci, Michele Sacchini, Angelo Schenone, Simone Sampaolo, Monica Sciacco, Gabriele Siciliano, Giorgio Tasca, Paola Tonin, Rossella Tupler, Mariarosaria Valente, Nila Volpi, Denise Cassandrini, Filippo Maria Santorelli
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1 -Related Myopathies. Genes 14 (2) (2023)
Diego Lopergolo, Silvia Bianchi, Gian Nicola Gallus, Sara Locci, Barbara Pucci, Valerio Leoni, Daniele Gasparini, Elisa Tardelli, Andrea Chincarini, Stelvio Sestini, Filippo Maria Santorelli, Henrik Zetterberg, Nicola De Stefano, Andrea Mignarri
Familial Alzheimer's disease associated with heterozygous NPC1 mutation. Journal of medical genetics (2023)
Silvia Leoncini, Lidia Boasiako, Diego Lopergolo, Maria Altamura, Caterina Fazzi, Roberto Canitano, Salvatore Grosso, Ilaria Meloni, Margherita Baldassarri, Susanna Croci, Alessandra Renieri, Mario Mastrangelo, Claudio De Felice
Natural Course of IQSEC2 -Related Encephalopathy: An Italian National Structured Survey. Children (Basel, Switzerland) 10 (9) (2023)
Diego Lopergolo, Simona Salvatore, Vincenzo Sorrentino, Alessandro Malandrini, Filippo Maria Santorelli, Carla Battisti
Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutation. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 44 (4) (2023)
Claudia Dosi, Anna Rubegni, Jacopo Baldacci, Daniele Galatolo, Stefano Doccini, Guja Astrea, Angela Berardinelli, Claudio Bruno, Giorgia Bruno, Giacomo Pietro Comi, Maria Alice Donati, Maria Teresa Dotti, Massimiliano Mirabella, Chiara Fiorillo, Fabio Giannini, Gian Luigi Gigli, Marina Grandis, Diego Lopergolo, Francesca Magri, Maria Antonietta Maioli, Alessandro Malandrini, Roberto Massa, Sabrina Matà, Federico Melani, Sonia Messina, Andrea Mignarri, Maurizio Moggio, Elena Maria Pennisi, Elena Pegoraro, Giulia Ricci, Michele Sacchini, Angelo Schenone, Simone Sampaolo, Monica Sciacco, Gabriele Siciliano, Giorgio Tasca, Paola Tonin, Rossella Tupler, Mariarosaria Valente, Nila Volpi, Denise Cassandrini, Filippo Maria Santorelli
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1 -Related Myopathies. Genes 14 (2) (2023)
Claudia Dosi, Anna Rubegni, Jacopo Baldacci, Daniele Galatolo, Stefano Doccini, Guja Astrea, Angela Berardinelli, Claudio Bruno, Giorgia Bruno, Giacomo Pietro Comi, Maria Alice Donati, Maria Teresa Dotti, Massimiliano Mirabella, Chiara Fiorillo, Fabio Giannini, Gian Luigi Gigli, Marina Grandis, Diego Lopergolo, Francesca Magri, Maria Antonietta Maioli, Alessandro Malandrini, Roberto Massa, Sabrina Matà, Federico Melani, Sonia Messina, Andrea Mignarri, Maurizio Moggio, Elena Maria Pennisi, Elena Pegoraro, Giulia Ricci, Michele Sacchini, Angelo Schenone, Simone Sampaolo, Monica Sciacco, Gabriele Siciliano, Giorgio Tasca, Paola Tonin, Rossella Tupler, Mariarosaria Valente, Nila Volpi, Denise Cassandrini, Filippo Maria Santorelli
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1 -Related Myopathies. Genes 14 (2) (2023)
Gemma Marinella, Guja Astrea, Bianca Buchignani, Denise Cassandrini, Stefano Doccini, Massimiliano Mirabella, Daniele Galatolo, Salvatore Gallone, Fabio Giannini, Diego Lopergolo, Maria Antonietta Maioli, Francesca Magri, Alessandro Malandrini, Paola Mandich, Francesco Mari, Roberto Massa, Sabrina Mata, Federico Melani, Maurizio Moggio, Tiziana E Mongini, Rosa Pasquariello, Elena Pegoraro, Federica Silvia Ricci, Giulia Ricci, Carmelo Rodolico, Anna Rubegni, Gabriele Siciliano, Martina Sperti, Chiara Ticci, Paola Tonin, Filippo M Santorelli, Roberta Battini
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing. International journal of molecular sciences 23 (23) (2022)
Gemma Marinella, Guja Astrea, Bianca Buchignani, Denise Cassandrini, Stefano Doccini, Massimiliano Mirabella, Daniele Galatolo, Salvatore Gallone, Fabio Giannini, Diego Lopergolo, Maria Antonietta Maioli, Francesca Magri, Alessandro Malandrini, Paola Mandich, Francesco Mari, Roberto Massa, Sabrina Mata, Federico Melani, Maurizio Moggio, Tiziana E Mongini, Rosa Pasquariello, Elena Pegoraro, Federica Silvia Ricci, Giulia Ricci, Carmelo Rodolico, Anna Rubegni, Gabriele Siciliano, Martina Sperti, Chiara Ticci, Paola Tonin, Filippo M Santorelli, Roberta Battini
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing. International journal of molecular sciences 23 (23) (2022)
Gemma Marinella, Guja Astrea, Bianca Buchignani, Denise Cassandrini, Stefano Doccini, Massimiliano Mirabella, Daniele Galatolo, Salvatore Gallone, Fabio Giannini, Diego Lopergolo, Maria Antonietta Maioli, Francesca Magri, Alessandro Malandrini, Paola Mandich, Francesco Mari, Roberto Massa, Sabrina Mata, Federico Melani, Maurizio Moggio, Tiziana E Mongini, Rosa Pasquariello, Elena Pegoraro, Federica Silvia Ricci, Giulia Ricci, Carmelo Rodolico, Anna Rubegni, Gabriele Siciliano, Martina Sperti, Chiara Ticci, Paola Tonin, Filippo M Santorelli, Roberta Battini
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing. International journal of molecular sciences 23 (23) (2022)
Gemma Marinella, Guja Astrea, Bianca Buchignani, Denise Cassandrini, Stefano Doccini, Massimiliano Mirabella, Daniele Galatolo, Salvatore Gallone, Fabio Giannini, Diego Lopergolo, Maria Antonietta Maioli, Francesca Magri, Alessandro Malandrini, Paola Mandich, Francesco Mari, Roberto Massa, Sabrina Mata, Federico Melani, Maurizio Moggio, Tiziana E Mongini, Rosa Pasquariello, Elena Pegoraro, Federica Silvia Ricci, Giulia Ricci, Carmelo Rodolico, Anna Rubegni, Gabriele Siciliano, Martina Sperti, Chiara Ticci, Paola Tonin, Filippo M Santorelli, Roberta Battini
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing. International journal of molecular sciences 23 (23) (2022)
Scott Barish, Mumine Senturk, Kelly Schoch, Amanda L Minogue, Diego Lopergolo, Chiara Fallerini, Jake Harland, Jacob H Seemann, Nicholas Stong, Peter G Kranz, Sujay Kansagra, Mohamad A Mikati, Joan Jasien, Mays El-Dairi, Paolo Galluzzi, null null, Francesca Ariani, Alessandra Renieri, Francesca Mari, Michael F Wangler, Swathi Arur, Yong-Hui Jiang, Shinya Yamamoto, Vandana Shashi, Hugo J Bellen
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder. Human molecular genetics 31 (17) (2022)
Lorenzo Loberti, Lucia Pia Bruno, Stefania Granata, Gabriella Doddato, Sara Resciniti, Francesca Fava, Michele Carullo, Elisa Rahikkala, Guillaume Jouret, Leonie A Menke, Damien Lederer, Pascal Vrielynck, Lukáš Ryba, Nicola Brunetti-Pierri, Amaia Lasa-Aranzasti, Anna Maria Cueto-González, Laura Trujillano, Irene Valenzuela, Eduardo F Tizzano, Alessandro Mauro Spinelli, Irene Bruno, Aurora Currò, Franco Stanzial, Francesco Benedicenti, Diego Lopergolo, Filippo Maria Santorelli, Constantia Aristidou, George A Tanteles, Isabelle Maystadt, Tinatin Tkemaladze, Tiia Reimand, Helen Lokke, Katrin Õunap, Maria K Haanpää, Andrea Holubová, Veronika Zoubková, Martin Schwarz, Riina Žordania, Kai Muru, Laura Roht, Annika Tihveräinen, Rita Teek, Ulvi Thomson, Atallah Isis, Andrea Superti-Furga, Sabrina Buoni, Roberto Canitano, Valeria Scandurra, Annalisa Rossetti, Salvatore Grosso, Roberta Battini, Margherita Baldassarri, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Mirella Bruttini, Francesca Mari, Francesca Ariani, Alessandra Renieri, Anna Maria Pinto
Natural history of KBG syndrome in a large European cohort. Human molecular genetics (2022)
Susanna Croci, Miriam Lucia Carriero, Katia Capitani, Sergio Daga, Francesco Donati, Filomena Tiziana Papa, Elisa Frullanti, Diego Lopergolo, Vittoria Lamacchia, Rossella Tita, Annarita Giliberti, Elisa Benetti, Francesca Niccheri, Simone Furini, Caterina Lo Rizzo, Silvestro Giovanni Conticello, Alessandra Renieri, Ilaria Meloni
AAV-mediated FOXG1 gene editing in human Rett primary cells. European journal of human genetics : EJHG 28 (10) (2020)

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Publication Activity (10 Years)

Top Topics

Top Venues

Diego Lopergolo