Stefano D'Arrigo

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 17

Top Topics

Duchenne Muscular Dystrophy

Intellectual Disability

Top Venues

Journal of medical genetics

Neurology. Genetics

Diagnostics (Basel, Switzerland)

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

Publications

Camilla Sarli, Liselot van der Laan, Jack Reilly, Slavica Trajkova, Diana Carli, Alfredo Brusco, Michael A Levy, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Matthew L Tedder, Cindy D Skinner, Mariëlle Alders, Peter Henneman, Raoul C M Hennekam, Claudia Ciaccio, Stefano D'Arrigo, Antonio Vitobello, Laurence Olivier-Faivre, Sacha Weber, Aline Vincent-Devulder, Laurence Perrin, Alexia Bourgois, Toshiyuki Yamamoto, Kay Metcalfe, Marcella Zollino, Usha Kini, Daniela Oliveira, Sergio B Sousa, Denise Williams, Gerarda Cappuccio, Bekim Sadikovic, Nicola Brunetti-Pierri
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Claudia Ciaccio, Chiara Pantaleoni, Marco E M Moscatelli, Luisa Chiapparini, Vincenzo Nigro, Enza Maria Valente, Sciacca Francesca Luisa, Canafoglia Laura, Sara Bulgheroni, Stefano D'Arrigo
Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3 -Related Syndrome. Neurology. Genetics 9 (2) (2023)
Matilde Taddei, Silvia Esposito, Gianluca Marucci, Alessandra Erbetta, Paolo Ferroli, Laura Grazia Valentini, Chiara Pantaleoni, Stefano D'Arrigo, Veronica Saletti, Bianca Pollo, Rosina Paterra, Cesare Giorgi, Sara Bulgheroni
Cognitive and Behavioral Outcome of Pediatric Low-Grade Central Nervous System Tumors Treated Only with Surgery: A Single Center Experience. Diagnostics (Basel, Switzerland) 13 (9) (2023)
Matilde Taddei, Silvia Esposito, Gianluca Marucci, Alessandra Erbetta, Paolo Ferroli, Laura Grazia Valentini, Chiara Pantaleoni, Stefano D'Arrigo, Veronica Saletti, Bianca Pollo, Rosina Paterra, Cesare Giorgi, Sara Bulgheroni
Cognitive and Behavioral Outcome of Pediatric Low-Grade Central Nervous System Tumors Treated Only with Surgery: A Single Center Experience. Diagnostics (Basel, Switzerland) 13 (9) (2023)
Patricia Pascual, Jair Antonio Tenorio Castaño, Cyril Mignot, Alexandra Afenjar, Pedro Arias, Natalia Gallego-Zazo, Alejandro Parra, Lucia Miranda, Mario Cazalla, Cristina Silván, Delphine Heron, Boris Keren, Ioana Popa, Maria Palomares-Bralo, Emi Rikeros, Feliciano J Ramos, Berta Almoguera, Carmen Ayuso, Saoud Tahsin Swafiri, Ana Isabel Sánchez Barbero, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Manuela Morleo, Vicenzo Nigro, Stefano D'Arrigo, Claudia Ciaccio, Carmen Martin Mesa, Beatriz Paumard, Gema Guillen, Ana Teresa Serrano Anton, Marta Domínguez Jimenez, Veronica Seidel, Julia Suárez, Valerie Cormier-Daire, The Sogri Consortium, Julián Nevado, Pablo Lapunzina
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review. Genes 14 (9) (2023)
Claudia Ciaccio, Chiara Pantaleoni, Marco E M Moscatelli, Luisa Chiapparini, Vincenzo Nigro, Enza Maria Valente, Sciacca Francesca Luisa, Canafoglia Laura, Sara Bulgheroni, Stefano D'Arrigo
Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3 -Related Syndrome. Neurology. Genetics 9 (2) (2023)
Claudia Ciaccio, Chiara Pantaleoni, Marco E M Moscatelli, Luisa Chiapparini, Vincenzo Nigro, Enza Maria Valente, Sciacca Francesca Luisa, Canafoglia Laura, Sara Bulgheroni, Stefano D'Arrigo
Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3 -Related Syndrome. Neurology. Genetics 9 (2) (2023)
Silvia Maria Marchese, Roberto Esposti, Veronica Farinelli, Claudia Ciaccio, Arianna De Laurentiis, Stefano D'Arrigo, Paolo Cavallari
Pediatric Slow-Progressive, but Not Non-Progressive Cerebellar Ataxia Delays Intra-Limb Anticipatory Postural Adjustments in the Upper Arm. Brain sciences 13 (4) (2023)
Silvia Maria Marchese, Roberto Esposti, Veronica Farinelli, Claudia Ciaccio, Arianna De Laurentiis, Stefano D'Arrigo, Paolo Cavallari
Pediatric Slow-Progressive, but Not Non-Progressive Cerebellar Ataxia Delays Intra-Limb Anticipatory Postural Adjustments in the Upper Arm. Brain sciences 13 (4) (2023)
Valentina Serpieri, Giulia Mortarini, Hailey Loucks, Tommaso Biagini, Alessia Micalizzi, Ilaria Palmieri, Jennifer C Dempsey, Fulvio D'Abrusco, Concetta Mazzotta, Roberta Battini, Enrico Silvio Bertini, Eugen Boltshauser, Renato Borgatti, Knut Brockmann, Stefano D'Arrigo, Nardo Nardocci, Rita Fischetto, Emanuele Agolini, Antonio Novelli, Alfonso Romano, Ludovica Pasca, Franco Stanzial, Sabrina Signorini, Pietro Strisciuglio, Simone Gana, Tommaso Mazza, Dan Doherty, Enza Maria Valente
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome. Journal of medical genetics (2023)
Claudia Ciaccio, Chiara Pantaleoni, Marco E M Moscatelli, Luisa Chiapparini, Vincenzo Nigro, Enza Maria Valente, Sciacca Francesca Luisa, Canafoglia Laura, Sara Bulgheroni, Stefano D'Arrigo
Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3 -Related Syndrome. Neurology. Genetics 9 (2) (2023)
Claudia Ciaccio, Emanuela Leonardi, Roberta Polli, Alessandra Murgia, Stefano D'Arrigo, Elisa Granocchio, Luisa Chiapparini, Chiara Pantaleoni, Silvia Esposito
A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia. Neuropediatrics 52 (6) (2021)
Sara Nuovo, Alessia Micalizzi, Ludovica Pasca, Filippo Arrigoni, Monia Ginevrino, Antonella Casella, Valentina Serpieri, Stefano D'Arrigo, Marilena Briguglio, Grazia Gabriella Salerno, Sara Rossato, Stefano Sartori, Vincenzo Leuzzi, Roberta Battini, Bruria Ben-Zeev, Claudio Graziano, Marisol Mirabelli Badenier, Vesna Brankovic, Nardo Nardocci, Ronen Spiegel, Danijela Petković Ramadža, Giovanni Vento, Itxaso Marti, Alessandro Simonati, Savina Dipresa, Elena Freri, Tommaso Mazza, Maria Teresa Bassi, Luca Bosco, Lorena Travaglini, Ginevra Zanni, Enrico Silvio Bertini, Nicola Vanacore, Renato Borgatti, Enza Maria Valente
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study. Journal of medical genetics (2021)
Valentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, Yong-Han Hank Cheng, Filippo Arrigoni, Janice Baker, Roberta Battini, Enrico Silvio Bertini, Renato Borgatti, Angela K Christman, Cynthia Curry, Stefano D'Arrigo, Joel Fluss, Michael Freilinger, Simone Gana, Gisele E Ishak, Vincenzo Leuzzi, Hailey Loucks, Filippo Manti, Nancy Mendelsohn, Laura Merlini, Caitlin V Miller, Ansar Muhammad, Sara Nuovo, Ludovica Pasca, Wolfgang Schmidt, Sabrina Signorini, Sabrina Siliquini, Krzysztof Szczaluba, Gessica Vasco, Meredith Wilson, Ginevra Zanni, Eugen Boltshauser, Dan Doherty, Enza Maria Valente, null null
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum. Journal of medical genetics (2021)
Stefano D'Arrigo, Marco Moscatelli, Claudia Ciaccio, Chiara Pantaleoni, Raffaele Castello, Luisa Chiapparini, null null
Abnormal cerebellar foliation in EBF3 mutation. Neurology 94 (21) (2020)
Francesco Nicita, Monia Ginevrino, Lorena Travaglini, Stefano D'Arrigo, Giovanna Zorzi, Renato Borgatti, Gaetano Terrone, Michela Catteruccia, Gessica Vasco, Vesna Brankovic, Sabrina Siliquini, Silvia Romano, Chiara Veredice, Marina Pedemonte, Michelina Armando, Donatella Lettori, Fabrizia Stregapede, Luca Bosco, Antonella Sferra, Valeria Tessarollo, Ludovica Pasca, Giovanni Ristori, Enrico Bertini, Enza Maria Valente, Ginevra Zanni
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders. Journal of medical genetics 58 (7) (2020)
Stefano D'Arrigo, Valeria Tessarollo, Franco Taroni, Silvia Baratta, Chiara Pantaleoni, Elena Schiaffi, Claudia Ciano
A Case of Severe Early-Onset Neuropathy Caused by a Compound Heterozygous Deletion of the PMP22 Gene: Clinical and Neurographic Aspects. Neuropediatrics 51 (3) (2019)