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Vincenzo Leuzzi

ORCID

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 23

Top Venues

Genes

Journal of medical genetics

American journal of medical genetics. Part A

International journal of molecular sciences

Università degli Studi di Roma La Sapienza

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

Affiliation History

Università degli Studi di Roma La Sapienza Nov 1o 2001

Italy

associated professor of Child Neurology and Psychiatry :: Dipartimento di Pediatria e Neuropsichiatria Infantile

Publications

Martina Di Rocco, Serena Galosi, Francesca C Follo, Enrico Lanza, Viola Folli, Alberto Martire, Vincenzo Leuzzi, Simone Martinelli
Phenotypic Assessment of Pathogenic Variants in GNAO1 and Response to Caffeine in C. elegans Models of the Disease. Genes 14 (2) (2023)
Martina Di Rocco, Serena Galosi, Francesca C Follo, Enrico Lanza, Viola Folli, Alberto Martire, Vincenzo Leuzzi, Simone Martinelli
Phenotypic Assessment of Pathogenic Variants in GNAO1 and Response to Caffeine in C. elegans Models of the Disease. Genes 14 (2) (2023)
Mario Mastrangelo, Manuela Tolve, Cristiana Artiola, Rossella Bove, Claudia Carducci, Carla Carducci, Antonio Angeloni, Francesco Pisani, Vincenzo Leuzzi
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism. Genes 14 (2) (2023)
Martina Di Rocco, Serena Galosi, Francesca C Follo, Enrico Lanza, Viola Folli, Alberto Martire, Vincenzo Leuzzi, Simone Martinelli
Phenotypic Assessment of Pathogenic Variants in GNAO1 and Response to Caffeine in C. elegans Models of the Disease. Genes 14 (2) (2023)
Mario Mastrangelo, Manuela Tolve, Cristiana Artiola, Rossella Bove, Claudia Carducci, Carla Carducci, Antonio Angeloni, Francesco Pisani, Vincenzo Leuzzi
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism. Genes 14 (2) (2023)
Martina Di Rocco, Serena Galosi, Francesca C Follo, Enrico Lanza, Viola Folli, Alberto Martire, Vincenzo Leuzzi, Simone Martinelli
Phenotypic Assessment of Pathogenic Variants in GNAO1 and Response to Caffeine in C. elegans Models of the Disease. Genes 14 (2) (2023)
Mario Mastrangelo, Manuela Tolve, Cristiana Artiola, Rossella Bove, Claudia Carducci, Carla Carducci, Antonio Angeloni, Francesco Pisani, Vincenzo Leuzzi
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism. Genes 14 (2) (2023)
Mario Mastrangelo, Manuela Tolve, Cristiana Artiola, Rossella Bove, Claudia Carducci, Carla Carducci, Antonio Angeloni, Francesco Pisani, Vincenzo Leuzzi
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism. Genes 14 (2) (2023)
Roeland A F Evers, Annemiek M J van Wegberg, Anita MacDonald, Stephan C J Huijbregts, Vincenzo Leuzzi, Francjan J van Spronsen
Dietary Liberalization in Tetrahydrobiopterin-Treated PKU Patients: Does It Improve Outcomes? Nutrients 14 (18) (2022)
Francesca Nardecchia, Anna Caciotti, Teresa Giovanniello, Sabrina De Leo, Lorenzo Ferri, Serena Galosi, Silvia Santagata, Barbara Torres, Laura Bernardini, Claudia Carducci, Amelia Morrone, Vincenzo Leuzzi
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature. International journal of molecular sciences 23 (8) (2022)
Luigia Rossi, Francesca Nardecchia, Francesca Pierigè, Rossella Ventura, Claudia Carducci, Vincenzo Leuzzi, Mauro Magnani, Simona Cabib, Tiziana Pascucci
Intellectual Disability and Brain Creatine Deficit: Phenotyping of the Genetic Mouse Model for GAMT Deficiency. Genes 12 (8) (2021)
Elvira Verduci, Maria Teresa Carbone, Laura Fiori, Claudia Gualdi, Giuseppe Banderali, Claudia Carducci, Vincenzo Leuzzi, Giacomo Biasucci, Gian Vincenzo Zuccotti
Creatine Levels in Patients with Phenylketonuria and Mild Hyperphenylalaninemia: A Pilot Study. Life (Basel, Switzerland) 11 (5) (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)
Beatrice De Maria, Simona Balestrini, Davide Mei, Federico Melani, Simona Pellacani, Tiziana Pisano, Anna Rosati, Giusi M Scaturro, Lucio Giordano, Gaetano Cantalupo, Elena Fontana, Cristina Zammarchi, Edith Said, Vincenzo Leuzzi, Mario Mastrangelo, Serena Galosi, Elena Parrini, Renzo Guerrini
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy. American journal of medical genetics. Part A (2021)
Sara Nuovo, Vesna Brankovic, Caterina Caputi, Antonella Casella, Vincenzo Nigro, Vincenzo Leuzzi, Enza Maria Valente
Novel unconventional variants expand the allelic spectrum of OPHN1 gene. American journal of medical genetics. Part A 185 (5) (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)
Daniele Galatolo, Giovanna De Michele, Gabriella Silvestri, Vincenzo Leuzzi, Carlo Casali, Olimpia Musumeci, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Caterina Caputi, Ettore Cioffi, Giuseppe De Michele, Maria Teresa Dotti, Tommasina Fico, Chiara Fiorillo, Serena Galosi, Maria Lieto, Alessandro Malandrini, Mariarosa Anna Beatrice Melone, Andrea Mignarri, Gemma Natale, Elena Pegoraro, Antonio Petrucci, Ivana Ricca, Vittorio Riso, Salvatore Rossi, Anna Rubegni, Arianna Scarlatti, Francesca Tinelli, Rosanna Trovato, Gioacchino Tedeschi, Alessandra Tessa, Alessandro Filla, Filippo Maria Santorelli
NGS in Hereditary Ataxia: When Rare Becomes Frequent. International journal of molecular sciences 22 (16) (2021)
Sara Nuovo, Valentina Baglioni, Roberta De Mori, Silvia Tardivo, Caterina Caputi, Monia Ginevrino, Alessia Micalizzi, Laura Masuelli, Giulia Federici, Antonella Casella, Elisa Lorefice, Danila Anello, Manuela Tolve, Donatella Farini, Enrico Silvio Bertini, Ginevra Zanni, Lorena Travaglini, Gessica Vasco, Claudio Sette, Carla Carducci, Enza Maria Valente, Vincenzo Leuzzi
Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance. Human mutation (2021)
Mario Mastrangelo, Filippo Manti, Maria Teresa Giannini, Renzo Guerrini, Vincenzo Leuzzi
KCNQ2 encephalopathy manifesting with Rett-like features: A follow-up into adulthood. Neurology. Genetics 6 (5) (2020)
Francesca Nardecchia, Agnese De Giorgi, Flavia Palombo, Claudio Fiorini, Anna M De Negri, Valerio Carelli, Leonardo Caporali, Vincenzo Leuzzi
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness. Annals of clinical and translational neurology 8 (1) (2020)
Vincenzo Leuzzi, Flavia Chiarotti, Francesca Nardecchia, Danique van Vliet, Francjan J van Spronsen
Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: the challenge for the future guidelines. Journal of medical genetics 57 (3) (2019)
Angelo Molinaro, Maria Grazia Alessandrì, Elena Putignano, Vincenzo Leuzzi, Giovanni Cioni, Laura Baroncelli, Tommaso Pizzorusso
A Nervous System-Specific Model of Creatine Transporter Deficiency Recapitulates the Cognitive Endophenotype of the Disease: a Longitudinal Study. Scientific reports 9 (1) (2019)
Apostolos Papandreou, Federica Rachele Danti, Robert V V Spaull, Vincenzo Leuzzi, Amy McTague, Manju A Kurian
The expanding spectrum of movement disorders in genetic epilepsies. Developmental medicine and child neurology 62 (2) (2019)

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Publication Activity (10 Years)

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Vincenzo Leuzzi