Ludovica Pasca (Romina Romaniello, R Romaniello)

Scopus Author ID ResearcherID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 14

Top Venues

Journal of medical genetics

AJNR. American journal of neuroradiology

Annals of clinical and translational neurology

Developmental medicine and child neurology

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

Publications

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)
Ludovica Pasca, Ludovica Pasca, Davide Politano, Anna Cavallini, Elena Panzeri, Maria Cristina Vigone, Cristina Baldoli, Marco Abbate, Gaia Kullman, Susan Marelli, Gabriella Pozzobon, Renara Nacinovich, Maria Teresa Bassi, Romina Romaniello
A novel de novo heterozygous mutation in the SON gene associated to Septo-optic dysplasia: a new phenotype? Neuropediatrics (2023)
Michal Gafner, Eugen Boltshauser, Fulvio D'Abrusco, Roberta Battini, Ludovica Pasca, Stefano D'Arrigo, Ginevra Zanni, Zvi Leibovitz, Keren Yosovich, Tally Lerman-Sagie, null null
Expanding the natural history of CASK-related disorders to the prenatal period. Developmental medicine and child neurology (2022)
Ludovica Pasca, Filippo Arrigoni, Patrizia De Salvo, Maria Clara Bonaglia, Elena Panzeri, Maria Teresa Bassi, Cecilia Parazzini, Andrea Righini, Renato Borgatti
Long-term follow-up in a cohort of children with isolated corpus callosum agenesis at fetal MRI. Annals of clinical and translational neurology (2021)
Ludovica Pasca, Andrea Citterio, Elena Panzeri, Filippo Arrigoni, Marta De Rinaldis, Antonio Trabacca, Maria Teresa Bassi
Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5. Annals of clinical and translational neurology 8 (4) (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)
Claudia Corti, Maria Chiara Oprandi, Mathilde Chevignard, Ashok Jansari, Viola Oldrati, Elisabetta Ferrari, Monica Martignoni, Ludovica Pasca, Sandra Strazzer, Alessandra Bardoni
Virtual-Reality Performance-Based Assessment of Cognitive Functions in Adult Patients With Acquired Brain Injury: A Scoping Review. Neuropsychology review (2021)
Ludovica Pasca, Chiara Gagliardi, Patrizia Desalvo, Livio Provenzi, Roberta Battini, Enrico Bertini, Maria Teresa Bonati, Marilena Briguglio, Stefano D'Arrigo, Maria Teresa Dotti, Lucio Giordano, Claudio Macaluso, Isabella Moroni, Sara Nuovo, Margherita Santucci, Sabrina Signorini, Franco Stanzial, Enza Maria Valente, Renato Borgatti
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective. Disability and rehabilitation (2021)
Stacy K Goergen, E Alibrahim, J Christie, Andrew Dobrotwir, Michael Collingwood Fahey, L Fender, K Frawley, S A Manikkam, J R Pinner, S Sinnott, Ludovica Pasca, S A Sandaradura, J Taylor, A Vasudevan, Andrea Righini
The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes. AJNR. American journal of neuroradiology 42 (8) (2021)
Stefanie Brock, Tim Vanderhasselt, Sietske Vermaning, Kathelijn Keymolen, Luc Régal, Ludovica Pasca, Dagmar Wieczorek, Tim Matthias Storm, Karin Schaeferhoff, Ute Hehr, Alma Kuechler, Ingeborg Krägeloh-Mann, Tobias B Haack, Esmee Kasteleijn, Rachel Schot, Grazia Maria Simonetta Mancini, Richard Webster, Shekeeb Mohammad, Richard J Leventer, Ghayda Mirzaa, William B Dobyns, Nadia Bahi-Buisson, Marije Meuwissen, Anna C Jansen, Katrien Stouffs
Defining the phenotypical spectrum associated with variants in TUBB2A. Journal of medical genetics 58 (1) (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)
Filippo Arrigoni, Denis Peruzzo, Simone A Mandelstam, G Amorosino, D Redaelli, Ludovica Pasca, Richard J Leventer, Renato Borgatti, Marc L Seal, Joseph Yuan-Mou Yang
Characterizing White Matter Tract Organization in Polymicrogyria and Lissencephaly: A Multifiber Diffusion MRI Modeling and Tractography Study. AJNR. American journal of neuroradiology 41 (8) (2020)
Filippo Arrigoni, Ludovica Pasca, Denis Peruzzo, Alberto De Luca, Cecilia Parazzini, Enza Maria Valente, Renato Borgatti, Fabio Triulzi
Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome. AJNR. American journal of neuroradiology 38 (12) (2017)

Ludovica Pasca.css-eqlu8i{font-size:small;padding-left:4px;} (Romina Romaniello, R Romaniello)

Publication Activity (10 Years)

Top Topics

Top Venues

Ludovica Pasca (Romina Romaniello, R Romaniello)