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

door Mohn, Angelika, Polidori, Nella, Aiello, Chiara, Rizzo, Cristiano, Giannini, Cosimo, Chiarelli, Francesco, Cappa, Marco
Gepubliceerd in Endocrinol Diabetes Metab Case Rep (2021)

Glutathione imbalance in patients with X-linked adrenoleukodystrophy()

door Petrillo, Sara, Piemonte, Fiorella, Pastore, Anna, Tozzi, Giulia, Aiello, Chiara, Pujol, Aurora, Cappa, Marco, Bertini, Enrico
Gepubliceerd in 2013

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

door Nicita, Francesco, Aiello, Chiara, Vasco, Gessica, Valeriani, Massimiliano, Stregapede, Fabrizia, Sancesario, Andrea, Armando, Michela, Bertini, Enrico
Gepubliceerd in 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

door 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
Gepubliceerd in Brain Sci (2021)

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

door 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
Gepubliceerd in Orphanet J Rare Dis (2017)

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

door 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.
Gepubliceerd in Neurol Genet (2021)

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

door 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
Gepubliceerd in Eur J Hum Genet (2016)

RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum

door 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.
Gepubliceerd in Ann Clin Transl Neurol (2019)