ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis
Vantaggiato, Chiara, Panzeri, Elena, Castelli, Marianna, Citterio, Andrea, Arnoldi, Alessia, Santorelli, Filippo Maria, Liguori, Rocco, Scarlato, Marina, Musumeci, Olimpia, Toscano, Antonio, Clementi, Emilio, Bassi, Maria Teresa
Published in Autophagy (02.01.2019)
Published in Autophagy (02.01.2019)
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Case report: A novel FARS2 deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia
Panzeri, Elena, Citterio, Andrea, Martinuzzi, Andrea, Ancona, Vera, Martini, Eleonora, Bassi, Maria Teresa
Published in Frontiers in genetics (19.04.2023)
Published in Frontiers in genetics (19.04.2023)
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Overview of Curcumin and Piperine Effects on Glucose Metabolism: The Case of an Insulinoma Patient's Loss of Consciousness
Servida, Simona, Panzeri, Elena, Tomaino, Laura, Marfia, Giovanni, Garzia, Emanuele, Ciniglio Appiani, Giuseppe, Moroncini, Gianluca, De Gennaro Colonna, Vito, La Vecchia, Carlo, Vigna, Luisella
Published in International journal of molecular sciences (01.04.2023)
Published in International journal of molecular sciences (01.04.2023)
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Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders
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
Published in International journal of molecular sciences (16.06.2022)
Published in International journal of molecular sciences (16.06.2022)
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Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis
Citterio, Andrea, Arnoldi, Alessia, Panzeri, Elena, Merlini, Luciano, D’Angelo, Maria Grazia, Musumeci, Olimpia, Toscano, Antonio, Bondi, Alice, Martinuzzi, Andrea, Bresolin, Nereo, Bassi, Maria Teresa
Published in Journal of neurology (01.12.2015)
Published in Journal of neurology (01.12.2015)
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Naringenin Ameliorates Drosophila ReepA Hereditary Spastic Paraplegia-Linked Phenotypes
Napoli, Barbara, Gumeni, Sentiljana, Forgiarini, Alessia, Fantin, Marianna, De Filippis, Concetta, Panzeri, Elena, Vantaggiato, Chiara, Orso, Genny
Published in Frontiers in neuroscience (19.11.2019)
Published in Frontiers in neuroscience (19.11.2019)
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Biological heterogeneity of putative bladder cancer stem‐like cell populations from human bladder transitional cell carcinoma samples
Bentivegna, Angela, Conconi, Donatella, Panzeri, Elena, Sala, Elena, Bovo, Giorgio, Viganò, Paolo, Brunelli, Silvia, Bossi, Mario, Tredici, Giovanni, Strada, Guido, Dalprà, Leda
Published in Cancer science (01.02.2010)
Published in Cancer science (01.02.2010)
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Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis
Citterio, Andrea, Arnoldi, Alessia, Panzeri, Elena, D’Angelo, Maria Grazia, Filosto, Massimiliano, Dilena, Robertino, Arrigoni, Filippo, Castelli, Marianna, Maghini, Cristina, Germiniasi, Chiara, Menni, Francesca, Martinuzzi, Andrea, Bresolin, Nereo, Bassi, Maria Teresa
Published in Journal of neurology (01.02.2014)
Published in Journal of neurology (01.02.2014)
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Epilepsy in Tubulinopathy: Personal Series and Literature Review
Romaniello, Romina, Zucca, Claudio, Arrigoni, Filippo, Bonanni, Paolo, Panzeri, Elena, Bassi, Maria T, Borgatti, Renato
Published in Cells (Basel, Switzerland) (02.07.2019)
Published in Cells (Basel, Switzerland) (02.07.2019)
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Mutations in MAPT gene cause chromosome instability and introduce copy number variations widely in the genome
Rossi, Giacomina, Conconi, Donatella, Panzeri, Elena, Redaelli, Serena, Piccoli, Elena, Paoletta, Laura, Dalprà, Leda, Tagliavini, Fabrizio
Published in Journal of Alzheimer's disease (01.01.2013)
Published in Journal of Alzheimer's disease (01.01.2013)
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Case Reports: Novel Missense Variants in the Filamin C Actin Binding Domain Cause Variable Phenotypes
Velardo, Daniele, D'Angelo, Maria Grazia, Citterio, Andrea, Panzeri, Elena, Napoli, Laura, Cinnante, Claudia, Moggio, Maurizio, Comi, Giacomo Pietro, Ronchi, Dario, Bassi, Maria Teresa
Published in Frontiers in neurology (12.07.2022)
Published in Frontiers in neurology (12.07.2022)
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Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5
Romaniello, Romina, Citterio, Andrea, Panzeri, Elena, Arrigoni, Filippo, De Rinaldis, Marta, Trabacca, Antonio, Bassi, Maria Teresa
Published in Annals of clinical and translational neurology (01.04.2021)
Published in Annals of clinical and translational neurology (01.04.2021)
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A Pilot Phase 2 Randomized Trial to Evaluate the Safety and Potential Efficacy of Etravirine in Friedreich Ataxia Patients
Paparella, Gabriella, Stragà, Cristina, Pesenti, Nicola, Dal Molin, Valentina, Martorel, Gian Antonio, Merotto, Vasco, Genova, Cristina, Piazza, Arianna, Piccoli, Giuseppe, Panzeri, Elena, Rufini, Alessandra, Testi, Roberto, Martinuzzi, Andrea
Published in Children (Basel) (09.08.2024)
Published in Children (Basel) (09.08.2024)
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Long‐term follow‐up in a cohort of children with isolated corpus callosum agenesis at fetal MRI
Romaniello, Romina, Arrigoni, Filippo, De Salvo, Patrizia, Bonaglia, Maria Clara, Panzeri, Elena, Bassi, Maria Teresa, Parazzini, Cecilia, Righini, Andrea, Borgatti, Renato
Published in Annals of clinical and translational neurology (01.12.2021)
Published in Annals of clinical and translational neurology (01.12.2021)
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Broadening the Spectrum of Adulthood X-Linked Adrenoleukodystrophy: A Report of Two Atypical Cases
Foschi, Matteo, Vacchiano, Veria, Avoni, Patrizia, Incensi, Alex, Battaglia, Stella, Donadio, Vincenzo, Panzeri, Elena, Bassi, Maria Teresa, Liguori, Rocco, Rizzo, Giovanni
Published in Frontiers in neurology (06.02.2019)
Published in Frontiers in neurology (06.02.2019)
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Cytogenetics of Premature Ovarian Failure : An Investigation on 269 Affected Women
Panzeri, Elena, Conconi, Donatella, Baronchelli, Simona, Bentivegna, Angela, Redaelli, Serena, Lissoni, Sara, Saccheri, Fabiana, Villa, Nicoletta, Crosti, Francesca, Sala, Elena, Martinoli, Emanuela, Volontè, Marinella, Marozzi, Anna, Dalprà, Leda
Published in BioMed research international (01.01.2011)
Published in BioMed research international (01.01.2011)
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Chromosomal aberrations in bladder cancer: fresh versus formalin fixed paraffin embedded tissue and targeted FISH versus wide microarray-based CGH analysis
Panzeri, Elena, Conconi, Donatella, Antolini, Laura, Redaelli, Serena, Valsecchi, Maria Grazia, Bovo, Giorgio, Pallotti, Francesco, Viganò, Paolo, Strada, Guido, Dalprà, Leda, Bentivegna, Angela
Published in PloS one (01.09.2011)
Published in PloS one (01.09.2011)
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Investigating the role of X chromosome breakpoints in premature ovarian failure
Baronchelli, Simona, Villa, Nicoletta, Redaelli, Serena, Lissoni, Sara, Saccheri, Fabiana, Panzeri, Elena, Conconi, Donatella, Bentivegna, Angela, Crosti, Francesca, Sala, Elena, Bertola, Francesca, Marozzi, Anna, Pedicini, Antonio, Ventruto, Marialuisa, Police, Maria Adalgisa, Dalprà, Leda
Published in Molecular cytogenetics (16.07.2012)
Published in Molecular cytogenetics (16.07.2012)
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