Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).

Autor: Nanetti, Lorenzo¹ (AUTHOR), Kearney, Mary² (AUTHOR), Boesch, Sylvia³ (AUTHOR), Stovickova, Lucie⁴ (AUTHOR), Ortigoza-Escobar, Juan Darío⁵ (AUTHOR), Macaya, Alfons⁶ (AUTHOR), Gomez-Andres, David⁶ (AUTHOR), Roze, Emmanuel⁷ (AUTHOR), Molnar, Maria-Judit⁸ (AUTHOR), Wolf, Nicole I.⁹ (AUTHOR), Darling, Alejandra⁵ (AUTHOR), Vasco, Gessica¹⁰ (AUTHOR), Bertini, Enrico¹¹ (AUTHOR), Indelicato, Elisabetta³ (AUTHOR), Neubauer, David¹² (AUTHOR), Haack, Tobias B.¹³ (AUTHOR), Sagi, Judit C.^8,14 (AUTHOR), Danti, Federica R.¹⁵ (AUTHOR), Sival, Deborah¹⁶ (AUTHOR), Zanni, Ginevra¹¹ (AUTHOR)

Publikováno v: Neurological Sciences. Mar2024, Vol. 45 Issue 3, p1007-1016. 10p.

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

Autor: Cunha, Paulina, Petit, Emilien, Coutelier, Marie, Coarelli, Giulia, Mariotti, Caterina, Faber, Jennifer, Van Gaalen, Judith, Damasio, Joana, Fleszar, Zofia, Tosi, Michele, Rocca, Clarissa, De Michele, Giovanna, Minnerop, Martina, Ewenczyk, Claire, Santorelli, Filippo M., Heinzmann, Anna, Bird, Thomas, Amprosi, Matthias, Indelicato, Elisabetta, Benussi, Alberto, Charles, Perrine, Stendel, Claudia, Romano, Silvia, Scarlato, Marina, Le Ber, Isabelle, Bassi, Maria Teresa, Serrano, Mercedes, Schmitz-Hübsch, Tanja, Doss, Sarah, Van Velzen, Gijs A.J., Thomas, Quentin, Trabacca, Antonio, Ortigoza-Escobar, Juan Dario, D'Arrigo, Stefano, Timmann, Dagmar, Pantaleoni, Chiara, Martinuzzi, Andrea, Besse-Pinot, Elsa, Marsili, Luca, Cioffi, Ettore, Nicita, Francesco, Giorgetti, Alejandro, Moroni, Isabella, Romaniello, Romina, Casali, Carlo, Ponger, Penina, Casari, Giorgio, De Bot, Susanne T., Ristori, Giovanni, Blumkin, Lubov, Borroni, Barbara, Goizet, Cyril, Marelli, Cecilia, Boesch, Sylvia, Anheim, Mathieu, Filla, Alessandro, Houlden, Henry, Bertini, Enrico, Klopstock, Thomas, Synofzik, Matthis, Riant, Florence, Zanni, Ginevra, Magri, Stefania, Di Bella, Daniela, Nanetti, Lorenzo, Sequeiros, Jorge, Oliveira, Jorge, Van de Warrenburg, Bart, Schöls, Ludger, Taroni, Franco, Brice, Alexis, Durr, Alexandra

Publikováno v: In The American Journal of Human Genetics 6 July 2023 110(7):1098-1109

Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders.

Autor: Cozzi, Marta, Magri, Stefania, Tedesco, Barbara, Patelli, Guglielmo, Ferrari, Veronica, Casarotto, Elena, Chierichetti, Marta, Pramaggiore, Paola, Cornaggia, Laura, Piccolella, Margherita, Galbiati, Mariarita, Rusmini, Paola, Crippa, Valeria, Mandrioli, Jessica, Pareyson, Davide, Pisciotta, Chiara, D'Arrigo, Stefano, Ratti, Antonia, Nanetti, Lorenzo, Mariotti, Caterina

Publikováno v: Cell Death & Disease; Sep2024, Vol. 15 Issue 9, p1-16, 16p

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Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study.

Autor: Ribeiro Rezende, Thiago Junqueira, Adanyaguh, Isaac, Barsottini, Orlando G. P., Bender, Benjamin, Cendes, Fernando, Coutinho, Leo, Deistung, Andreas, Dogan, Imis, Durr, Alexandra, Fernandez-Ruiz, Juan, Göricke, Sophia L., Grisoli, Marina, Hernandez-Castillo, Carlos R., Lenglet, Christophe, Mariotti, Caterina, Martinez, Alberto R. M., Massuyama, Breno K., Mochel, Fanny, Nanetti, Lorenzo, Nigri, Anna

Publikováno v: Journal of Neurology, Neurosurgery & Psychiatry; Jul2024, Vol. 95 Issue 7, p682-690, 9p