PROJETO FILHOS PREDILETOS / PROJECT FAVORITE CHILDREN von Brandão, Christian Giampietro, Conci, Ricardo Augusto, Taha, Silvia Dal'Maso, Klein, Elen Mariane Dal Bosco, Vale, Natália Gomes do, Brusco, Bárbara, Webber, Alexandre Almeida

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Motor and cognitive outcomes of cerebello-spinal stimulation in neurodegenerative ataxia von Benussi, Alberto, Cantoni, Valentina, Manes, Marta, Libri, Ilenia, Dell'Era, Valentina, Datta, Abhishek, Thomas, Chris, Ferrari, Camilla, Di Fonzo, Alessio, Fancellu, Roberto, Grassi, Mario, Brusco, Alfredo, Alberici, Antonella, Borroni, Barbara

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Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28 von Taroni, Franco, Di Bella, Daniela, Lazzaro, Federico, Brusco, Alfredo, Plumari, Massimo, Battaglia, Giorgio, Pastore, Annalisa, Finardi, Adele, Cagnoli, Claudia, Tempia, Filippo, Frontali, Marina, Veneziano, Liana, Sacco, Tiziana, Boda, Enrica, Brussino, Alessandro, Bonn, Florian, Castellotti, Barbara, Baratta, Silvia, Mariotti, Caterina, Gellera, Cinzia, Fracasso, Valentina, Magri, Stefania, Langer, Thomas, Plevani, Paolo, Di Donato, Stefano, Muzi-Falconi, Marco

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The first genome‐wide association study in the Argentinian and Chilean populations identifies shared genetics with Europeans in Alzheimer's disease von Dalmasso, Maria Carolina, Rojas, Itziar, Olivar, Natividad, Muchnik, Carolina, Angel, Bárbara, Gloger, Sergio, Sanchez Abalos, Mariana Soledad, Chacón, María Victoria, Aránguiz, Rafael, Orellana, Paulina, Cuesta, Carolina, Galeano, Pablo, Campanelli, Lorenzo, Novack, Gisela Vanina, Martinez, Luis Eduardo, Medel, Nancy, Lisso, Julieta, Sevillano, Zulma, Irureta, Nicolás, Castaño, Eduardo Miguel, Montrreal, Laura, Thoenes, Michaela, Hanses, Claudia, Heilmann‐Heimbach, Stefanie, Kairiyama, Claudia, Mintz, Inés, Villella, Ivana, Rueda, Fabiana, Romero, Amanda, Wukitsevits, Nancy, Quiroga, Ivana, Gona, Cristian, Lambert, Jean‐Charles, Solis, Patricia, Politis, Daniel Gustavo, Mangone, Carlos Alberto, Gonzalez‐Billault, Christian, Boada, Mercè, Tàrraga, Lluís, Slachevsky, Andrea, Albala, Cecilia, Fuentes, Patricio, Kochen, Silvia, Brusco, Luis Ignacio, Ruiz, Agustín, Morelli, Laura, Ramírez, Alfredo

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CCG•CGG interruptions in high‐penetrance SCA8 families increase RAN translation and protein toxicity von Perez, Barbara A, Shorrock, Hannah K, Banez‐Coronel, Monica, Zu, Tao, Romano, Lisa EL, Laboissonniere, Lauren A, Reid, Tammy, Ikeda, Yoshio, Reddy, Kaalak, Gomez, Christopher M, Bird, Thomas, Ashizawa, Tetsuo, Schut, Lawrence J, Brusco, Alfredo, Berglund, J Andrew, Hasholt, Lis F, Nielsen, Jorgen E, Subramony, SH, Ranum, Laura PW

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A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10 von Giorgio, Elisa, Rubino, Elisa, Bruselles, Alessandro, Pizzi, Simone, Rainero, Innocenzo, Duca, Sergio, Sirchia, Fabio, Pasini, Barbara, Tartaglia, Marco, Brusco, Alfredo

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Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice von Hoxha, Eriola, Gabriele, Rebecca M C, Balbo, Ilaria, Ravera, Francesco, Masante, Linda, Zambelli, Vanessa, Albergo, Cristian, Mitro, Nico, Caruso, Donatella, Di Gregorio, Eleonora, Brusco, Alfredo, Borroni, Barbara, Tempia, Filippo

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Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability? von Bottillo, Irene, Savino, Emanuele, Majore, Silvia, Mulargia, Claudia, Valiante, Michele, Ferraris, Alessandro, Rossi, Valentina, Svegliati, Francesca, Ciccone, Maria Pia, Brusco, Francesca, Grammatico, Barbara, Di Giacomo, Gianluca, Bargiacchi, Simone, D'Angelantonio, Daniela, Grammatico, Paola

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Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes von Giovenino, Chiara, Trajkova, Slavica, Pavinato, Lisa, Cardaropoli, Simona, Pullano, Verdiana, Ferrero, Enza, Sukarova-Angelovska, Elena, Carestiato, Silvia, Salmin, Paola, Rinninella, Antonina, Battaglia, Anthony, Bertoli, Luca, Fadda, Antonio, Palermo, Flavia, Carli, Diana, Mussa, Alessandro, Dimartino, Paola, Bruselles, Alessandro, Froukh, Tawfiq, Mandrile, Giorgia, Pasini, Barbara, De Rubeis, Silvia, Buxbaum, Joseph D, Pippucci, Tommaso, Tartaglia, Marco, Rossato, Marzia, Delledonne, Massimo, Ferrero, Giovanni Battista, Brusco, Alfredo

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Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38 von Manes, Marta, Alberici, Antonella, Di Gregorio, Eleonora, Boccone, Loredana, Premi, Enrico, Mitro, Nico, Pasolini, Maria Pia, Pani, Claudia, Paghera, Barbara, Perani, Daniela, Orsi, Laura, Costanzi, Chiara, Ferrero, Marta, Zoppo, Adele, Tempia, Filippo, Caruso, Donatella, Grassi, Mario, Padovani, Alessandro, Brusco, Alfredo, Borroni, Barbara

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Elovl5 is required for proper action potential conduction along peripheral myelinated fibers von Hoxha, Eriola, Balbo, Ilaria, Parolisi, Roberta, Audano, Matteo, Montarolo, Francesca, Ravera, Francesco, Guglielmotto, Michela, Muratori, Luisa, Raimondo, Stefania, DiGregorio, Eleonora, Buffo, Annalisa, Brusco, Alfredo, Borroni, Barbara, Mitro, Nico, Caruso, Donatella, Tempia, Filippo

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Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification von Giorgio, Elisa, Garelli, Emanuela, Carando, Adriana, Bellora, Stefania, Rubino, Elisa, Quarello, Paola, Sirchia, Fabio, Marrama, Federico, Gallone, Salvatore, Grosso, Enrico, Pasini, Barbara, Massa, Roberto, Brussino, Alessandro, Brusco, Alfredo

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First genome‐wide association study on Alzheimer’s disease in the Argentinian and the Chilean populations von Dalmasso, Maria Carolina, de Rojas, Itziar, Olivar, Natividad, Muchnik, Carolina, Angel, Bárbara, Gogler, Sergio, Sanchez‐Avalos, Mariana S, Chacon, Maria Victoria, Aránguiz, Rafael, Orellana, Paulina, Cuesta, Carolina, Galeano, Pablo, Campanelli, Lorenzo, Novack, Gisella V, Medel, Nancy, Lisso, Julieta, Sevillano, Zulma, Irureta, Nicolas, Castaño, Eduardo M, Montrreal, Laura, Heilmann‐Heimbach, Stefanie, Mintz, Ines, Villella, Ivana, Lambert, Jean‐Charles, Solis, Patricia, Politis, Daniel, Mangone, Carlos A, Gonzalez‐Billault, Christian, Boada, Mercè, Tárraga, Lluís, Slachevsky, Andrea, Albala, Cecilia, Fuentes, Patricio, Kochen, Silvia, Brusco, Luis Ignacio, Ruiz, Agustin, Morelli, Laura, Ramirez, Alfredo

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Cerebello-spinal stimulation in neurodegenerative ataxia: Motor and cognitive outcomes von Libri, Ilenia, Benussi, Alberto, Cantoni, Valentina, Manes, Marta, Dell'Era, Valentina, Datta, Abhishek, Thomas, Chris, Ferrari, Camilla, Di Fonzio, Alessio, Grassi, Mario, Brusco, Alfredo, Alberici, Antonella, Borroni, Barbara

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Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot von Ferrero, Enza, Di Gregorio, Eleonora, Ferrero, Marta, Ortolan, Erika, Moon, Young-Ah, Di Campli, Antonella, Pavinato, Lisa, Mancini, Cecilia, Tripathy, Debasmita, Manes, Marta, Hoxha, Eriola, Costanzi, Chiara, Pozzi, Elisa, Rossi Sebastiano, Matteo, Mitro, Nico, Tempia, Filippo, Caruso, Donatella, Borroni, Barbara, Basso, Manuela, Sallese, Michele, Brusco, Alfredo

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CD8 + T Cells Variably Recognize Native Versus Citrullinated GRP78 Epitopes in Type 1 Diabetes von Azoury, Marie Eliane, Samassa, Fatoumata, Buitinga, Mijke, Nigi, Laura, Brusco, Noemi, Callebaut, Aïsha, Giraud, Matthieu, Irla, Magali, Lalanne, Ana Ines, Carré, Alexia, Afonso, Georgia, Zhou, Zhicheng, Brandao, Barbara, Colli, Maikel L, Sebastiani, Guido, Dotta, Francesco, Nakayama, Maki, Eizirik, Decio L, You, Sylvaine, Pinto, Sheena, Mamula, Mark J, Verdier, Yann, Vinh, Joelle, Buus, Soren, Mathieu, Chantal, Overbergh, Lut, Mallone, Roberto

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Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study von Manes, Marta, Alberici, Antonella, Di Gregorio, Eleonora, Boccone, Loredana, Premi, Enrico, Mitro, Nico, Pasolini, Maria Pia, Pani, Claudia, Paghera, Barbara, Orsi, Laura, Costanzi, Chiara, Ferrero, Marta, Tempia, Filippo, Caruso, Donatella, Padovani, Alessando, Brusco, Alfredo, Borroni, Barbara

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ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 von Di Gregorio, Eleonora, Borroni, Barbara, Giorgio, Elisa, Lacerenza, Daniela, Ferrero, Marta, Lo Buono, Nicola, Ragusa, Neftj, Mancini, Cecilia, Gaussen, Marion, Calcia, Alessandro, Mitro, Nico, Hoxha, Eriola, Mura, Isabella, Coviello, Domenico A., Moon, Young-Ah, Tesson, Christelle, Vaula, Giovanna, Couarch, Philippe, Orsi, Laura, Duregon, Eleonora, Papotti, Mauro Giulio, Deleuze, Jean-François, Imbert, Jean, Costanzi, Chiara, Padovani, Alessandro, Giunti, Paola, Maillet-Vioud, Marcel, Durr, Alexandra, Brice, Alexis, Tempia, Filippo, Funaro, Ada, Boccone, Loredana, Caruso, Donatella, Stevanin, Giovanni, Brusco, Alfredo

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Severe acute respiratory syndrome coronavirus 2 infection among healthcare workers in a tertiary public hospital in Curitiba, Brazil von Spalanzani, Regiane Nogueira, Genelhoud, Gustavo, Raboni, Sonia Mara, Almeida, Sergio Monteiro de, Pereira, Luciane Aparecida, Rotta, Indianara, Cavalli, Barbara Maria, Moreira, Francielli Brusco, Dino, Carolina Lumi Tanaka, Takahashi, Gislene Reche de Almeida, Cognialli, Regielly Caroline Raimundo, Spiri, Beatriz Sanada, Bochnia-Bueno, Lucas, Oliveira, Jaqueline Carvalho de, Adamoski, Douglas, Gradia, Daniela Fiori, Bonatto, Ana Cláudia, Wassem, Roseli, Alves, Juliana Mazini, Padilha, Raquel da Silva, Brasil, Vitor Jorge Woytuski, Almeida, Bernardo Montesanti Machado de, Nogueira, Meri Bordignon

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CD8+ T Cells Variably Recognize Native Versus Citrullinated GRP78 Epitopes in Type 1 Diabetes von Azoury, Marie Eliane, Samassa, Fatoumata, Buitinga, Mijke, Nigi, Laura, Brusco, Noemi, Callebaut, Aisha, Giraud, Matthieu, Irla, Magali, Lalanne, Ana Ines, Carre, Alexia, Afonso, Georgia, Zhou, Zhicheng, Brandao, Barbara, Colli, Maikel L, Sebastiani, Guido, Dotta, Francesco, Nakayama, Maki, Eizirik, Decio L, You, Sylvaine, Pinto, Sheena, Mamula, Mark J, Verdier, Yann, Vinh, Joelle, Buus, Soren, Mathieu, Chantal, Overbergh, Lut, Mallone, Roberto

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