Case report: A novel FARS2 deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia

por Panzeri, Elena, Citterio, Andrea, Martinuzzi, Andrea, Ancona, Vera, Martini, Eleonora, Bassi, Maria Teresa
Publicado 2023

KIF5A and ALS2 Variants in a Family With Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis

por Simone, Marta, Trabacca, Antonio, Panzeri, Elena, Losito, Luciana, Citterio, Andrea, Bassi, Maria Teresa
Publicado 2018

The Fine Tuning of Drp1-Dependent Mitochondrial Remodeling and Autophagy Controls Neuronal Differentiation

por Vantaggiato, Chiara, Castelli, Marianna, Giovarelli, Matteo, Orso, Genny, Bassi, Maria Teresa, Clementi, Emilio, De Palma, Clara
Publicado 2019

Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5

por Romaniello, Romina, Citterio, Andrea, Panzeri, Elena, Arrigoni, Filippo, De Rinaldis, Marta, Trabacca, Antonio, Bassi, Maria Teresa
Publicado 2021

Nitric Oxide Sustains Long-Term Skeletal Muscle Regeneration by Regulating Fate of Satellite Cells Via Signaling Pathways Requiring Vangl2 and Cyclic GMP

por Buono, Roberta, Vantaggiato, Chiara, Pisa, Viviana, Azzoni, Emanuele, Bassi, Maria Teresa, Brunelli, Silvia, Sciorati, Clara, Clementi, Emilio
Publicado 2012

Broadening the Spectrum of Adulthood X-Linked Adrenoleukodystrophy: A Report of Two Atypical Cases

por Foschi, Matteo, Vacchiano, Veria, Avoni, Patrizia, Incensi, Alex, Battaglia, Stella, Donadio, Vincenzo, Panzeri, Elena, Bassi, Maria Teresa, Liguori, Rocco, Rizzo, Giovanni
Publicado 2019

Long‐term follow‐up in a cohort of children with isolated corpus callosum agenesis at fetal MRI

por Romaniello, Romina, Arrigoni, Filippo, De Salvo, Patrizia, Bonaglia, Maria Clara, Panzeri, Elena, Bassi, Maria Teresa, Parazzini, Cecilia, Righini, Andrea, Borgatti, Renato
Publicado 2021

SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features

por Epifanio, Roberta, Giorda, Roberto, Merlano, Maria Carolina, Zanotta, Nicoletta, Romaniello, Romina, Marelli, Susan, Russo, Silvia, Cogliati, Francesca, Bassi, Maria Teresa, Zucca, Claudio
Publicado 2021

Case Reports: Novel Missense Variants in the Filamin C Actin Binding Domain Cause Variable Phenotypes

por Velardo, Daniele, D'Angelo, Maria Grazia, Citterio, Andrea, Panzeri, Elena, Napoli, Laura, Cinnante, Claudia, Moggio, Maurizio, Comi, Giacomo Pietro, Ronchi, Dario, Bassi, Maria Teresa
Publicado 2022

U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene

por Sferruzza, Giacomo, Del Bondio, Andrea, Citterio, Andrea, Vezzulli, Paolo, Guerrieri, Simone, Radaelli, Marta, Martinelli Boneschi, Filippo, Filippi, Massimo, Maltecca, Francesca, Bassi, Maria Teresa, Scarlato, Marina
Publicado 2021

Rescue of lysosomal function as therapeutic strategy for SPG15 hereditary spastic paraplegia

por Vantaggiato, Chiara, Orso, Genny, Guarato, Giulia, Brivio, Francesca, Napoli, Barbara, Panzeri, Elena, Masotti, Simona, Santorelli, Filippo Maria, Lamprou, Maria, Gumeni, Sentiljana, Clementi, Emilio, Bassi, Maria Teresa
Publicado 2022

Clinical and genetic features of a cohort of patients with MFN2-related neuropathy

por Abati, Elena, Manini, Arianna, Velardo, Daniele, Del Bo, Roberto, Napoli, Laura, Rizzo, Federica, Moggio, Maurizio, Bresolin, Nereo, Bellone, Emilia, Bassi, Maria Teresa, D’Angelo, Maria Grazia, Comi, Giacomo Pietro, Corti, Stefania
Publicado 2022

Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders

por Romaniello, Romina, Pasca, Ludovica, Panzeri, Elena, D’Abrusco, Fulvio, Travaglini, Lorena, Serpieri, Valentina, Signorini, Sabrina, Aiello, Chiara, Bertini, Enrico, Bassi, Maria Teresa, Valente, Enza Maria, Zanni, Ginevra, Borgatti, Renato, Arrigoni, Filippo
Publicado 2022

Deficient nitric oxide signalling impairs skeletal muscle growth and performance: involvement of mitochondrial dysregulation

por De Palma, Clara, Morisi, Federica, Pambianco, Sarah, Assi, Emma, Touvier, Thierry, Russo, Stefania, Perrotta, Cristiana, Romanello, Vanina, Carnio, Silvia, Cappello, Valentina, Pellegrino, Paolo, Moscheni, Claudia, Bassi, Maria Teresa, Sandri, Marco, Cervia, Davide, Clementi, Emilio
Publicado 2014

Nitric Oxide Generated by Tumor-Associated Macrophages Is Responsible for Cancer Resistance to Cisplatin and Correlated With Syntaxin 4 and Acid Sphingomyelinase Inhibition

por Perrotta, Cristiana, Cervia, Davide, Di Renzo, Ilaria, Moscheni, Claudia, Bassi, Maria Teresa, Campana, Lara, Martelli, Cristina, Catalani, Elisabetta, Giovarelli, Matteo, Zecchini, Silvia, Coazzoli, Marco, Capobianco, Annalisa, Ottobrini, Luisa, Lucignani, Giovanni, Rosa, Patrizia, Rovere-Querini, Patrizia, De Palma, Clara, Clementi, Emilio
Publicado 2018

Acid Sphingomyelinase Controls Early Phases of Skeletal Muscle Regeneration by Shaping the Macrophage Phenotype

por Roux-Biejat, Paulina, Coazzoli, Marco, Marrazzo, Pasquale, Zecchini, Silvia, Di Renzo, Ilaria, Prata, Cecilia, Napoli, Alessandra, Moscheni, Claudia, Giovarelli, Matteo, Barbalace, Maria Cristina, Catalani, Elisabetta, Bassi, Maria Teresa, De Palma, Clara, Cervia, Davide, Malaguti, Marco, Hrelia, Silvana, Clementi, Emilio, Perrotta, Cristiana
Publicado 2021

Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study

por Martinuzzi, Andrea, Montanaro, Domenico, Vavla, Marinela, Paparella, Gabriella, Bonanni, Paolo, Musumeci, Olimpia, Brighina, Erika, Hlavata, Hana, Rossi, Giuseppe, Aghakhanyan, Gayane, Martino, Nicola, Baratto, Alessandra, D’Angelo, Maria Grazia, Peruch, Francesca, Fantin, Marianna, Arnoldi, Alessia, Citterio, Andrea, Vantaggiato, Chiara, Rizzo, Vincenzo, Toscano, Antonio, Bresolin, Nereo, Bassi, Maria Teresa
Publicado 2016

Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52

por D’Amore, Angelica, Tessa, Alessandra, Naef, Valentina, Bassi, Maria Teresa, Citterio, Andrea, Romaniello, Romina, Fichi, Gianluca, Galatolo, Daniele, Mero, Serena, Battini, Roberta, Bertocci, Giulia, Baldacci, Jacopo, Sicca, Federico, Gemignani, Federica, Ricca, Ivana, Rubegni, Anna, Hirst, Jennifer, Marchese, Maria, Sahin, Mustafa, Ebrahimi‐Fakhari, Darius, Santorelli, Filippo M.
Publicado 2020

Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network

por Rossi, Salvatore, Rubegni, Anna, Riso, Vittorio, Barghigiani, Melissa, Bassi, Maria Teresa, Battini, Roberta, Bertini, Enrico, Cereda, Cristina, Cioffi, Ettore, Criscuolo, Chiara, Dal Fabbro, Beatrice, Dato, Clemente, D'Angelo, Maria Grazia, Di Muzio, Antonio, Diamanti, Luca, Dotti, Maria Teresa, Filla, Alessandro, Gioiosa, Valeria, Liguori, Rocco, Martinuzzi, Andrea, Massa, Roberto, Mignarri, Andrea, Moroni, Rossana, Musumeci, Olimpia, Nicita, Francesco, Orologio, Ilaria, Orsi, Laura, Pegoraro, Elena, Petrucci, Antonio, Plumari, Massimo, Ricca, Ivana, Rizzo, Giovanni, Romano, Silvia, Rumore, Roberto, Sampaolo, Simone, Scarlato, Marina, Seri, Marco, Stefan, Cristina, Straccia, Giulia, Tessa, Alessandra, Travaglini, Lorena, Trovato, Rosanna, Ulgheri, Lucia, Vazza, Giovanni, Orlacchio, Antonio, Silvestri, Gabriella, Santorelli, Filippo Maria, Melone, Mariarosa Anna Beatrice, Casali, Carlo
Publicado 2022

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

por Heinzen, Erin L., Swoboda, Kathryn J., Hitomi, Yuki, Gurrieri, Fiorella, Nicole, Sophie, de Vries, Boukje, Tiziano, F. Danilo, Fontaine, Bertrand, Walley, Nicole M., Heavin, Sinéad, Panagiotakaki, Eleni, Fiori, Stefania, Abiusi, Emanuela, Di Pietro, Lorena, Sweney, Matthew T., Newcomb, Tara M., Viollet, Louis, Huff, Chad, Jorde, Lynn B., Reyna, Sandra P., Murphy, Kelley J., Shianna, Kevin V., Gumbs, Curtis E., Little, Latasha, Silver, Kenneth, Ptác̆ek, Louis J., Haan, Joost, Ferrari, Michel D., Bye, Ann M., Herkes, Geoffrey K., Whitelaw, Charlotte M., Webb, David, Lynch, Bryan J., Uldall, Peter, King, Mary D., Scheffer, Ingrid E., Neri, Giovanni, Arzimanoglou, Alexis, van den Maagdenberg, Arn M.J.M., Sisodiya, Sanjay M., Mikati, Mohamad A., Goldstein, David B., Nicole, Sophie, Gurrieri, Fiorella, Neri, Giovanni, de Vries, Boukje, Koelewijn, Stephany, Kamphorst, Jessica, Geilenkirchen, Marije, Pelzer, Nadine, Laan, Laura, Haan, Joost, Ferrari, Michel, van den Maagdenberg, Arn, Zucca, Claudio, Bassi, Maria Teresa, Franchini, Filippo, Vavassori, Rosaria, Giannotta, Melania, Gobbi, Giuseppe, Granata, Tiziana, Nardocci, Nardo, De Grandis, Elisa, Veneselli, Edvige, Stagnaro, Michela, Gurrieri, Fiorella, Neri, Giovanni, Vigevano, Federico, Panagiotakaki, Eleni, Oechsler, Claudia, Arzimanoglou, Alexis, Nicole, Sophie, Giannotta, Melania, Gobbi, Giuseppe, Ninan, Miriam, Neville, Brian, Ebinger, Friedrich, Fons, Carmen, Campistol, Jaume, Kemlink, David, Nevsimalova, Sona, Laan, Laura, Peeters-Scholte, Cacha, van den Maagdenberg, Arn, Casaer, Paul, Casari, Giorgio, Sange, Guenter, Spiel, Georg, Boneschi, Filippo Martinelli, Zucca, Claudio, Bassi, Maria Teresa, Schyns, Tsveta, Crawley, Francis, Poncelin, Dominique, Vavassori, Rosaria
Publicado 2012