ABCD1 gene mutation in an Italian family with X-linkedadrenoleukodystrophy: case series

od Mohn, Angelika, Polidori, Nella, Aiello, Chiara, Rizzo, Cristiano, Giannini, Cosimo, Chiarelli, Francesco, Cappa, Marco
izdano v Endocrinol Diabetes Metab Case Rep (2021)

Glutathione imbalance in patients with X-linked adrenoleukodystrophy()

od Petrillo, Sara, Piemonte, Fiorella, Pastore, Anna, Tozzi, Giulia, Aiello, Chiara, Pujol, Aurora, Cappa, Marco, Bertini, Enrico
Izdano 2013

Expanding the Clinical and Mutational Spectrum of the PLP1-Related Hypomyelination of Early Myelinated Structures (HEMS)

od Nicita, Francesco, Aiello, Chiara, Vasco, Gessica, Valeriani, Massimiliano, Stregapede, Fabrizia, Sancesario, Andrea, Armando, Michela, Bertini, Enrico
izdano v Brain Sci (2021)

Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience

od Riso, Vittorio, Rossi, Salvatore, Nicoletti, Tommaso F., Tessa, Alessandra, Travaglini, Lorena, Zanni, Ginevra, Aiello, Chiara, Perna, Alessia, Barghigiani, Melissa, Pomponi, Maria Grazia, Santorelli, Filippo M., Silvestri, Gabriella
izdano v Brain Sci (2021)

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

od Nasca, Alessia, Rizza, Teresa, Doimo, Mara, Legati, Andrea, Ciolfi, Andrea, Diodato, Daria, Calderan, Cristina, Carrara, Gianfranco, Lamantea, Eleonora, Aiello, Chiara, Di Nottia, Michela, Niceta, Marcello, Lamperti, Costanza, Ardissone, Anna, Bianchi-Marzoli, Stefania, Iarossi, Giancarlo, Bertini, Enrico, Moroni, Isabella, Tartaglia, Marco, Salviati, Leonardo, Carrozzo, Rosalba, Ghezzi, Daniele
izdano v Orphanet J Rare Dis (2017)

LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations

od Stellingwerff, Menno D., Figuccia, Sonia, Bellacchio, Emanuele, Alvarez, Karin, Castiglioni, Claudia, Topaloglu, Pinar, Stutterd, Chloe A., Erasmus, Corrie E., Sanchez‐Valle, Amarilis, Lebon, Sebastien, Hughes, Sarah, Schmitt-Mechelke, Thomas, Vasco, Gessica, Chow, Gabriel, Rahikkala, Elisa, Dallabona, Cristina, Okuma, Cecilia, Aiello, Chiara, Goffrini, Paola, Abbink, Truus E.M., Bertini, Enrico S., Van der Knaap, Marjo S.
izdano v Neurol Genet (2021)

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome)

od Micalizzi, Alessia, Poretti, Andrea, Romani, Marta, Ginevrino, Monia, Mazza, Tommaso, Aiello, Chiara, Zanni, Ginevra, Baumgartner, Bastian, Borgatti, Renato, Brockmann, Knut, Camacho, Ana, Cantalupo, Gaetano, Haeusler, Martin, Hikel, Christiane, Klein, Andrea, Mandrile, Giorgia, Mercuri, Eugenio, Rating, Dietz, Romaniello, Romina, Santorelli, Filippo Maria, Schimmel, Mareike, Spaccini, Luigina, Teber, Serap, von Moers, Arpad, Wente, Sarah, Ziegler, Andreas, Zonta, Andrea, Bertini, Enrico, Boltshauser, Eugen, Valente, Enza Maria
izdano v Eur J Hum Genet (2016)

RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum

od Mendes, Marisa I., Green, Lydia M. C., Bertini, Enrico, Tonduti, Davide, Aiello, Chiara, Smith, Desiree, Salsano, Ettore, Beerepoot, Shanice, Hertecant, Jozef, von Spiczak, Sarah, Livingston, John H., Emrick, Lisa, Fraser, Jamie, Russell, Laura, Bernard, Genevieve, Magri, Stefania, Di Bella, Daniela, Taroni, Franco, Koenig, Mary K., Moroni, Isabella, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, Rhee, Jullie, Mendelsohn, Bryce A., Helbig, Ingo, Helbig, Katherine, Muhle, Hiltrud, Ismayl, Omar, Vanderver, Adeline L., Salomons, Gajja S., van der Knaap, Marjo S., Wolf, Nicole I.
izdano v Ann Clin Transl Neurol (2019)