Lorena Travaglini

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 5

Top Topics

Intellectual Disability

Botulinum Toxin

Top Venues

Movement disorders : official journal of the Movement Disorder Society

European journal of human genetics : EJHG

Clinical genetics

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

Publications

Juan Dario Ortigoza-Escobar, Mina Zamani, Nathalie Dorison, Saeid Sadeghian, Reza Azizimalamiri, Javeria Raza Alvi, Tipu Sultan, Hamid Galehdari, Gholamreza Shariati, Alihossein Saberi, Lisette Leeuwen, Giovanni Zifarelli, Peter Bauer, Vincent d'Hardemare, Diane Doummar, Emmanuel Roze, Lorena Travaglini, Francesco Nicita, Núria Ojea Ponce, Seyed Mohammadsaleh Zahraei, Lama Alabdi, Abdullah Tamim, Mais O Hashem, Faroug Ababneh, Michelle M Morrow, Cynthia Curry, Allison Tam, Jessica Ruedy, Vikas Bhambhani, Regan Veith, Petter Strømme, Stephanie Efthymiou, Fowzan S Alkuraya, Andrés Moreno De Luca, Lydie Burglen, Henry Houlden, Reza Maroofian
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders. Movement disorders : official journal of the Movement Disorder Society (2024)
Juan Dario Ortigoza-Escobar, Mina Zamani, Nathalie Dorison, Saeid Sadeghian, Reza Azizimalamiri, Javeria Raza Alvi, Tipu Sultan, Hamid Galehdari, Gholamreza Shariati, Alihossein Saberi, Lisette Leeuwen, Giovanni Zifarelli, Peter Bauer, Vincent d'Hardemare, Diane Doummar, Emmanuel Roze, Lorena Travaglini, Francesco Nicita, Núria Ojea Ponce, Seyed Mohammadsaleh Zahraei, Lama Alabdi, Abdullah Tamim, Mais O Hashem, Faroug Ababneh, Michelle M Morrow, Cynthia Curry, Allison Tam, Jessica Ruedy, Vikas Bhambhani, Regan Veith, Petter Strømme, Stephanie Efthymiou, Fowzan S Alkuraya, Andrés Moreno De Luca, Lydie Burglen, Henry Houlden, Reza Maroofian
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders. Movement disorders : official journal of the Movement Disorder Society (2024)
Francesco Nicita, Fabrizia Stregapede, Federica Deodato, Simone Pizzi, Simone Martinelli, Daria Pagliara, Chiara Aiello, Francesca Cumbo, Fiorella Piemonte, Jessica D'Amico, Stefano Pro, Daniela Longo, Silvia Genovese, Tartaglia Marco, Maria L Escolar, Enrico Bertini, Lorena Travaglini
"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant. European journal of human genetics : EJHG 30 (8) (2022)
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)
Fabrizia Stregapede, Lorena Travaglini, Adriana P Rebelo, Vivian Pedigone Cintra, Emanuele Bellacchio, Luca Bosco, Paolo Alfieri, Stefano Pro, Stephan Zuchner, Enrico Bertini, Francesco Nicita
Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation. Clinical genetics 97 (3) (2019)