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Straniero, Letizia

Straniero, Letizia  

Dipartimento Scienze Biomediche  

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Risultati 1 - 20 di 31 (tempo di esecuzione: 0.006 secondi).
Titolo Data di pubblicazione Autore(i) File
2,6-Difluorobenzamide Inhibitors of Bacterial Cell Division Protein FtsZ: Design, Synthesis, and Structure-Activity Relationships 1-gen-2017 Straniero, V; Zanotto, C; Straniero, L; Casiraghi, A; Duga, S; Radaelli, A; De Giuli Morghen, C; Valoti, E
A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest. 1-gen-2018 Samarani, M; Loberto, N; Solda, G; Straniero, L; Asselta, R; Duga, S; Lunghi, G; Zucca, Fa; Mauri, L; Ciampa, Mg; Schiumarini, D; Bassi, R; Giussani, P; Chiricozzi, E; Prinetti, A; Aureli, M; Sonnino, S.
A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia 1-gen-2021 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
A rapid and low-cost test for screening the most common Parkinson's disease-related GBA variants 1-gen-2020 Straniero, Letizia; Rimoldi, Valeria; Melistaccio, Giada; Di Fonzo, Alessio; Pezzoli, Gianni; Duga, Stefano; Asselta, Rosanna
Capture-seq protocol and TE-reX pipeline guidelines for detection of recombination of repeat elements in short- and long-DNA reads libraries 1-gen-2023 Pascarella, G.; Straniero, L; Frith, M.; Carninci, P.
Chromosome Transplantation: A Possible Approach to Treat Human X-linked Disorders 1-gen-2020 Paulis, M; Susani, L; Castelli, A; Suzuki, T; Hara, T; Straniero, L; Duga, S; Strina, D; Mantero, S; Caldana, E; Sergi, Ls; Villa, A; Vezzoni, P.
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study 1-gen-2022 Domenighetti, C.; Sugier, P. -E.; Ashok Kumar Sreelatha, A.; Schulte, C.; Grover, S.; Mohamed, O.; Portugal, B.; May, P.; Bobbili, D. R.; Radivojkov-Blagojevic, M.; Lichtner, P.; Singleton, A. B.; Hernandez, D. G.; Edsall, C.; Mellick, G. D.; Zimprich, A.; Pirker, W.; Rogaeva, E.; Lang, A. E.; Koks, S.; Taba, P.; Lesage, S.; Brice, A.; Corvol, J. -C.; Chartier-Harlin, M. -C.; Mutez, E.; Brockmann, K.; Deutschländer, A. B.; Hadjigeorgiou, G. M.; Dardiotis, E.; Stefanis, L.; Simitsi, A. M.; Valente, E. M.; Petrucci, S.; Duga, S.; Straniero, L; Zecchinelli, A.; Pezzoli, G.; Brighina, L.; Ferrarese, C.; Annesi, G.; Quattrone, A.; Gagliardi, M.; Matsuo, H.; Kawamura, Y.; Hattori, N.; Nishioka, K.; Chung, S. J.; Kim, Y. J.; Kolber, P.; van de Warrenburg, B. P. C.; Bloem, B. R.; Aasly, J.; Toft, M.; Pihlstrøm, L.; Correia Guedes, L.; Ferreira, J. J.; Bardien, S.; Carr, J.; Tolosa, E.; Ezquerra, M.; Pastor, P.; Diez-Fairen, M.; Wirdefeldt, K.; Pedersen, N. L.; Ran, C.; Belin, A. C.; Puschmann, A.; Hellberg, C.; Clarke, C. E.; Morrison, K. E.; Tan, M.; Krainc, D.; Burbulla, L. F.; Farrer, M. J.; Krüger, R.; Gasser, T.; Sharma, M.; Elbaz, A.
DNAJC12 and dopa-responsive nonprogressive parkinsonism 1-gen-2017 Straniero, L; Guella, I; Cilia, R; Parkkinen, L; Rimoldi, V; Young, A; Asselta, R; Solda', G; Sossi, V; Stoessl, Aj; Priori, A; Nishioka, K; Hattori, N; Follett, J; Rajput, A; Blau, N; Pezzoli, G; Farrer, Mj; Goldwurm, S; Rajput, Ah; Duga, S.
Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II 1-gen-2014 Rimoldi, V.; Straniero, L.; Asselta, R.; Mauri, L.; Manfredini, E.; Penco, S.; Gesu, G. P.; Del Longo, A.; Piozzi, E.; Solda', G.; Primignani, P.
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease 1-gen-2022 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; Null, Null
Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay. 1-gen-2015 Nuzzo, F; Paraboschi, Em; Straniero, L; Pavlova, A; Duga, S; Castoldi, E.
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers 1-gen-2023 Sugier, P. -E.; Lucotte, E. A.; Domenighetti, C.; Law, M. H.; Iles, M. M.; Brown, K.; Amos, C.; Mckay, J. D.; Hung, R. J.; Karimi, M.; Bacq-Daian, D.; Boland-Augé, A.; Olaso, R.; Deleuze, J. -F.; Lesueur, F.; Ostroumova, E.; Kesminiene, A.; de Vathaire, F.; Guénel, P.; Sreelatha, A. A. K.; Schulte, C.; Grover, S.; May, P.; Bobbili, D. R.; Radivojkov-Blagojevic, M.; Lichtner, P.; Singleton, A. B.; Hernandez, D. G.; Edsall, C.; Mellick, G. D.; Zimprich, A.; Pirker, W.; Rogaeva, E.; Lang, A. E.; Koks, S.; Taba, P.; Lesage, S.; Brice, A.; Corvol, J. -C.; Chartier-Harlin, M. -C.; Mutez, E.; Brockmann, K.; Deutschländer, A. B.; Hadjigeorgiou, G. M.; Dardiotis, E.; Stefanis, L.; Simitsi, A. M.; Valente, E. M.; Petrucci, S.; Straniero, L; Zecchinelli, A.; Pezzoli, G.; Brighina, L.; Ferrarese, C.; Annesi, G.; Quattrone, A.; Gagliardi, M.; Matsuo, H.; Nakayama, A.; Hattori, N.; Nishioka, K.; Chung, S. J.; Kim, Y. J.; Kolber, P.; van de Warrenburg, B. P. C.; Bloem, B. R.; Aasly, J.; Toft, M.; Pihlstrøm, L.; Guedes, L. C.; Ferreira, J. J.; Bardien, S.; Carr, J.; Tolosa, E.; Ezquerra, M.; Pastor, P.; Diez-Fairen, M.; Wirdefeldt, K.; Pedersen, N.; Ran, C.; Belin, A. C.; Puschmann, A.; Rödström, E. Y.; Clarke, C. E.; Morrison, K. E.; Tan, M.; Krainc, D.; Burbulla, L. F.; Farrer, M. J.; Kruger, R.; Gasser, T.; Sharma, M.; Truong, T.; Elbaz, A.
Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations 1-gen-2020 Monfrini, E; Ronchi, D; Franco, G; Garbellini, M; Straniero, L; Scola, E; Arienti, F; Duga, S; Comi, Gp; Bresolin, N; Di Fonzo, A.
Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith–Magenis-like syndrome 1-gen-2024 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
Massive Accumulation of Sphingomyelin Affects the Lysosomal and Mitochondria Compartments and Promotes Apoptosis in Niemann-Pick Disease Type A 1-gen-2022 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; Solda', Giulia; Samarani, Maura; Aureli, Massimo
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease 1-gen-2022 Domenighetti, C.; Sugier, P. -E.; Sreelatha, A. A. K.; Schulte, C.; Grover, S.; Mohamed, O.; Portugal, B.; May, P.; Bobbili, D. R.; Radivojkov-Blagojevic, M.; Lichtner, P.; Singleton, A. B.; Hernandez, D. G.; Edsall, C.; Mellick, G. D.; Zimprich, A.; Pirker, W.; Rogaeva, E.; Lang, A. E.; Koks, S.; Taba, P.; Lesage, S.; Brice, A.; Corvol, J. -C.; Chartier-Harlin, M. -C.; Mutez, E.; Brockmann, K.; Deutschländer, A. B.; Hadjigeorgiou, G. M.; Dardiotis, E.; Stefanis, L.; Simitsi, A. M.; Valente, E. M.; Petrucci, S.; Duga, S.; Straniero, L; Zecchinelli, A.; Pezzoli, G.; Brighina, L.; Ferrarese, C.; Annesi, G.; Quattrone, A.; Gagliardi, M.; Matsuo, H.; Kawamura, Y.; Hattori, N.; Nishioka, K.; Chung, S. J.; Kim, Y. J.; Kolber, P.; Van De Warrenburg, B. P. C.; Bloem, B. R.; Aasly, J.; Toft, M.; Pihlstrøm, L.; Guedes, L. C.; Ferreira, J. J.; Bardien, S.; Carr, J.; Tolosa, E.; Ezquerra, M.; Pastor, P.; Diez-Fairen, M.; Wirdefeldt, K.; Pedersen, N. L.; Ran, C.; Belin, A. C.; Puschmann, A.; Hellberg, C.; Clarke, C. E.; Morrison, K. E.; Tan, M.; Krainc, D.; Burbulla, L. F.; Farrer, M. J.; Krüger, R.; Gasser, T.; Sharma, M.; Elbaz, A.
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy 1-gen-2019 Monfrini, E; Straniero, L; Bonato, S; Monzio Compagnoni, G; Bordoni, A; Dilena, R; Rinchetti, P; Silipigni, R; Ronchi, D; Corti, S; Comi, Gp; Bresolin, N; Duga, S; Di Fonzo, A.
Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors 1-gen-2022 Liu, H.; Dehestani, M.; Blauwendraat, C.; Makarious, M. B.; Leonard, H.; Kim, J. J.; Schulte, C.; Noyce, A.; Jacobs, B. M.; Foote, I.; Sharma, M.; Koks, S.; Mellick, G. D.; Pirker, W.; Zimprich, A.; Lang, A. E.; Rogaeva, E.; Taba, P.; Brice, A.; Chartier-Harlin, M. -C.; Corvol, J. -C.; Domenighetti, C.; Elbaz, A.; Lesage, S.; Mutez, E.; Sugier, P. -E.; Sreelatha, A. A. K.; Grover, S.; Brockmann, K.; Deutschländer, A. B.; Gasser, T.; Krüger, J.; Lichtner, P.; Radivojkov-Blagojevic, M.; Schulte, C.; Sharma, M.; Dardiotis, E.; Hadjigeorgiou, G. M.; Simitsi, A. M.; Stefanis, L.; Annesi, G.; Brighina, L.; Ferrarese, C.; Petrucci, S.; Pezzoli, G.; Quattrone, A.; Straniero, L; Gagliardi, M.; Valente, E. M.; Zecchinelli, A.; Hattori, N.; Nakayama, A.; Matsuo, H.; Nishioka, K.; Bobbili, D.; Kruger, R.; Landoulsi, Z.; May, P.; Pavelka, L.; Bloem, B. R.; van de Warrenburg, B. P. C.; Aasly, J.; Pihlstrøm, L.; Toft, M.; Ferreira, J. J.; Guedes, L. C.; Bardien, S.; Carr, J.; Chung, S. J.; Kim, Y. J.; Diez-Fairen, M.; Ezquerra, M.; Pastor, P.; Tolosa, E.; Belin, A. C.; Pedersen, N. L.; Puschmann, A.; Ran, C.; Rödström, E. Y.; Wirdefeldt, K.; Clarke, C. E.; Morrison, K. E.; Tan, M.; Edsall, C.; Farrer, M. J.; Krainc, D.; Singleton, A. B.; Burbulla, L. F.; Hernandez, D. G.; Nalls, M.; Singleton, A.; Gasser, T.; Bandres-Ciga, S.
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk 1-gen-2022 Straniero, Letizia; Rimoldi, Valeria; Monfrini, Edoardo; Bonvegna, Salvatore; Melistaccio, Giada; Lake, Julie; Soldà, Giulia; Aureli, Massimo; Shankaracharya, Null; Keagle, Pamela; Foroud, Tatiana; Landers, John E; Blauwendraat, Cornelis; Zecchinelli, Anna; Cilia, Roberto; Di Fonzo, Alessio; Pezzoli, Gianni; Duga, Stefano; Asselta, Rosanna
Saposin D variants are not a common cause of familial Parkinson's disease among Italians. 1-gen-2020 Facchi, D; Rimoldi, V; Straniero, L; Paraboschi, Em; Giulia, Solda; Zecchinelli, Al; Cilia, R; Duga, S; Pezzoli, G; Asselta, R.