DNAJC12 and dopa‐responsive nonprogressive parkinsonism
Straniero, Letizia, Guella, Ilaria, Cilia, Roberto, Parkkinen, Laura, Rimoldi, Valeria, Young, Alexander, Asselta, Rosanna, Soldà, Giulia, Sossi, Vesna, Stoessl, A. Jon, Priori, Alberto, Nishioka, Kenya, Hattori, Nobutaka, Follett, Jordan, Rajput, Alex, Blau, Nenad, Pezzoli, Gianni, Farrer, Matthew J., Goldwurm, Stefano, Rajput, Ali H., Duga, Stefano
Published in Annals of neurology (01.10.2017)
Published in Annals of neurology (01.10.2017)
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Journal Article
First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features
Straniero, Letizia, Rimoldi, Valeria, Soldà, Giulia, Bellini, Melissa, Biasucci, Giacomo, Asselta, Rosanna, Duga, Stefano
Published in Frontiers in genetics (10.10.2018)
Published in Frontiers in genetics (10.10.2018)
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Journal Article
Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis
Straniero, Letizia, Soldà, Giulia, Costantino, Lucy, Seia, Manuela, Melotti, Paola, Colombo, Carla, Asselta, Rosanna, Duga, Stefano
Published in Journal of human genetics (01.12.2016)
Published in Journal of human genetics (01.12.2016)
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Journal Article
β-Glucocerebrosidase Deficiency Activates an Aberrant Lysosome-Plasma Membrane Axis Responsible for the Onset of Neurodegeneration
Lunghi, Giulia, Carsana, Emma Veronica, Loberto, Nicoletta, Cioccarelli, Laura, Prioni, Simona, Mauri, Laura, Bassi, Rosaria, Duga, Stefano, Straniero, Letizia, Asselta, Rosanna, Soldà, Giulia, Di Fonzo, Alessio, Frattini, Emanuele, Magni, Manuela, Liessi, Nara, Armirotti, Andrea, Ferrari, Elena, Samarani, Maura, Aureli, Massimo
Published in Cells (Basel, Switzerland) (29.07.2022)
Published in Cells (Basel, Switzerland) (29.07.2022)
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Journal Article
The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP+ Treatment by Altering LRRK2 Binding to DRP1
Perez Carrion, Maria, Pischedda, Francesca, Biosa, Alice, Russo, Isabella, Straniero, Letizia, Civiero, Laura, Guida, Marianna, Gloeckner, Christian J, Ticozzi, Nicola, Tiloca, Cinzia, Mariani, Claudio, Pezzoli, Gianni, Duga, Stefano, Pichler, Irene, Pan, Lifeng, Landers, John E, Greggio, Elisa, Hess, Michael W, Goldwurm, Stefano, Piccoli, Giovanni
Published in Frontiers in molecular neuroscience (28.02.2018)
Published in Frontiers in molecular neuroscience (28.02.2018)
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Journal Article
Chromosome Transplantation: A Possible Approach to Treat Human X-linked Disorders
Paulis, Marianna, Susani, Lucia, Castelli, Alessandra, Suzuki, Teruhiko, Hara, Takahiko, Straniero, Letizia, Duga, Stefano, Strina, Dario, Mantero, Stefano, Caldana, Elena, Sergi, Lucia Sergi, Villa, Anna, Vezzoni, Paolo
Published in Molecular therapy. Methods & clinical development (12.06.2020)
Published in Molecular therapy. Methods & clinical development (12.06.2020)
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Journal Article
Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites
Straniero, Letizia, Rimoldi, Valeria, Soldà, Giulia, Mauri, Lucia, Manfredini, Emanuela, Andreucci, Elena, Bargiacchi, Sara, Penco, Silvana, Gesu, Giovanni P, Del Longo, Alessandra, Piozzi, Elena, Asselta, Rosanna, Primignani, Paola
Published in Journal of human genetics (01.09.2015)
Published in Journal of human genetics (01.09.2015)
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Journal Article
Low‐grade parental gonosomal mosaicism in CHD2 siblings with Smith–Magenis‐like syndrome
Cogliati, Francesca, Straniero, Letizia, Rimoldi, Valeria, Masciadri, Maura, Perego, Sara, Rinaldi, Berardo, Milani, Donatella, Gentilini, Davide, Larizza, Lidia, Asselta, Rosanna, Russo, Silvia, Bedeschi, Maria Francesca
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.09.2024)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.09.2024)
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Journal Article
A rapid and low-cost test for screening the most common Parkinson's disease-related GBA variants
Straniero, Letizia, Rimoldi, Valeria, Melistaccio, Giada, Di Fonzo, Alessio, Pezzoli, Gianni, Duga, Stefano, Asselta, Rosanna
Published in Parkinsonism & related disorders (01.11.2020)
Published in Parkinsonism & related disorders (01.11.2020)
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Journal Article
The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p
Straniero, Letizia, Rimoldi, Valeria, Samarani, Maura, Goldwurm, Stefano, Di Fonzo, Alessio, Krüger, Rejko, Deleidi, Michela, Aureli, Massimo, Soldà, Giulia, Duga, Stefano, Asselta, Rosanna
Published in Scientific reports (05.10.2017)
Published in Scientific reports (05.10.2017)
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Journal Article
A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia
Monfrini, Edoardo, Cogiamanian, Filippo, Salani, Sabrina, Straniero, Letizia, Fagiolari, Gigliola, Garbellini, Manuela, Carsana, Emma, Borellini, Linda, Biella, Fabio, Moggio, Maurizio, Bresolin, Nereo, Corti, Stefania, Duga, Stefano, Comi, Giacomo P., Aureli, Massimo, Di Fonzo, Alessio
Published in Annals of neurology (01.04.2021)
Published in Annals of neurology (01.04.2021)
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Journal Article
Saposin D variants are not a common cause of familial Parkinson's disease among Italians
Facchi, Daniele, Rimoldi, Valeria, Straniero, Letizia, Paraboschi, Elvezia Maria, Soldà, Giulia, Zecchinelli, Anna L, Cilia, Roberto, Duga, Stefano, Pezzoli, Gianni, Asselta, Rosanna
Published in Brain (London, England : 1878) (01.09.2020)
Published in Brain (London, England : 1878) (01.09.2020)
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Journal Article
A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest
Samarani, Maura, Loberto, Nicoletta, Soldà, Giulia, Straniero, Letizia, Asselta, Rosanna, Duga, Stefano, Lunghi, Giulia, Zucca, Fabio A, Mauri, Laura, Ciampa, Maria Grazia, Schiumarini, Domitilla, Bassi, Rosaria, Giussani, Paola, Chiricozzi, Elena, Prinetti, Alessandro, Aureli, Massimo, Sonnino, Sandro
Published in The FASEB journal (01.10.2018)
Published in The FASEB journal (01.10.2018)
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Journal Article
Role of Lysosomal Gene Variants in Modulating GBA‐Associated Parkinson's Disease Risk
Straniero, Letizia, Rimoldi, Valeria, Monfrini, Edoardo, Bonvegna, Salvatore, Melistaccio, Giada, Lake, Julie, Soldà, Giulia, Aureli, Massimo, Shankaracharya, Keagle, Pamela, Foroud, Tatiana, Landers, John E., Blauwendraat, Cornelis, Zecchinelli, Anna, Cilia, Roberto, Di Fonzo, Alessio, Pezzoli, Gianni, Duga, Stefano, Asselta, Rosanna
Published in Movement disorders (01.06.2022)
Published in Movement disorders (01.06.2022)
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Journal Article
Comparing GBA1‐Parkinson's disease and idiopathic Parkinson's disease: α‐Synuclein oligomers and synaptic density as biomarkers in the skin biopsy
Mazzetti, Samanta, Contaldi, Elena, Basellini, Milo Jarno, Novello, Claudia, Calogero, Alessandra Maria, Straniero, Letizia, Garrì, Federica, Ferri, Valentina, Calandrella, Daniela, Del Sorbo, Francesca, Asselta, Rosanna, Cereda, Emanuele, Cappelletti, Graziella, Isaias, Ioannis Ugo, Pezzoli, Gianni
Published in Brain pathology (Zurich, Switzerland) (01.11.2024)
Published in Brain pathology (Zurich, Switzerland) (01.11.2024)
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Journal Article
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence From the COURAGE-PD Consortium
Grover, Sandeep, Kumar Sreelatha, Ashwin Ashok, Pihlstrom, Lasse, Domenighetti, Cloé, Schulte, Claudia, Sugier, Pierre-Emmanuel, Radivojkov-Blagojevic, Milena, Lichtner, Peter, Mohamed, Océane, Portugal, Berta, Landoulsi, Zied, May, Patrick, Bobbili, Dheeraj, Edsall, Connor, Bartusch, Felix, Hanussek, Maximilian, Krüger, Jens, Hernandez, Dena G, Blauwendraat, Cornelis, Mellick, George D, Zimprich, Alexander, Pirker, Walter, Tan, Manuela, Rogaeva, Ekaterina, Lang, Anthony, Koks, Sulev, Taba, Pille, Lesage, Suzanne, Brice, Alexis, Corvol, Jean-Christophe, Chartier-Harlin, Marie-Christine, Mutez, Eugenie, Brockmann, Kathrin, Deutschländer, Angela B, Hadjigeorgiou, Georges M, Dardiotis, Efthimos, Stefanis, Leonidas, Simitsi, Athina Maria, Valente, Enza Maria, Petrucci, Simona, Straniero, Letizia, Zecchinelli, Anna, Pezzoli, Gianni, Brighina, Laura, Ferrarese, Carlo, Annesi, Grazia, Quattrone, Andrea, Gagliardi, Monica, Burbulla, Lena F, Matsuo, Hirotaka, Kawamura, Yusuke, Hattori, Nobutaka, Nishioka, Kenya, Chung, Sun Ju, Kim, Yun Joong, Pavelka, Lukas, van de Warrenburg, Bart P C, Bloem, Bastiaan R, Singleton, Andrew B, Aasly, Jan, Toft, Mathias, Guedes, Leonor Correia, Ferreira, Joaquim J, Bardien, Soraya, Carr, Jonathan, Tolosa, Eduardo, Ezquerra, Mario, Pastor, Pau, Diez-Fairen, Monica, Wirdefeldt, Karin, Pedersen, Nancy L, Ran, Caroline, Belin, Andrea C, Puschmann, Andreas, Hellberg, Clara, Clarke, Carl E, Morrison, Karen E, Krainc, Dimitri, Farrer, Matt J, Kruger, Rejko, Elbaz, Alexis, Gasser, Thomas, Sharma, Manu
Published in Neurology (16.08.2022)
Published in Neurology (16.08.2022)
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Journal Article
Screening of LRP10 mutations in Parkinson's disease patients from Italy
Manini, Arianna, Straniero, Letizia, Monfrini, Edoardo, Percetti, Marco, Vizziello, Maria, Franco, Giulia, Rimoldi, Valeria, Zecchinelli, Anna, Pezzoli, Gianni, Corti, Stefania, Comi, Giacomo Pietro, Duga, Stefano, Di Fonzo, Alessio
Published in Parkinsonism & related disorders (01.08.2021)
Published in Parkinsonism & related disorders (01.08.2021)
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Journal Article
Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson’s disease
Hop, Paul J., Lai, Dongbing, Keagle, Pamela J., Baron, Desiree M., Kenna, Brendan J., Kooyman, Maarten, Shankaracharya, Halter, Cheryl, Straniero, Letizia, Asselta, Rosanna, Bonvegna, Salvatore, Soto-Beasley, Alexandra I., Wszolek, Zbigniew K., Uitti, Ryan J., Isaias, Ioannis Ugo, Pezzoli, Gianni, Ticozzi, Nicola, Ross, Owen A., Veldink, Jan H., Foroud, Tatiana M., Kenna, Kevin P., Landers, John E.
Published in Nature genetics (01.07.2024)
Published in Nature genetics (01.07.2024)
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Journal Article
Massive Accumulation of Sphingomyelin Affects the Lysosomal and Mitochondria Compartments and Promotes Apoptosis in Niemann-Pick Disease Type A
Carsana, Emma Veronica, Lunghi, Giulia, Prioni, Simona, Mauri, Laura, Loberto, Nicoletta, Prinetti, Alessandro, Zucca, Fabio Andrea, Bassi, Rosaria, Sonnino, Sandro, Chiricozzi, Elena, Duga, Stefano, Straniero, Letizia, Asselta, Rosanna, Soldà, Giulia, Samarani, Maura, Aureli, Massimo
Published in Journal of molecular neuroscience (01.07.2022)
Published in Journal of molecular neuroscience (01.07.2022)
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Journal Article