The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane von Baskin, Jeremy M., Wu, Xudong, Christiano, Romain, Oh, Michael S., Schauder, Curtis M., Gazzerro, Elisabetta, Messa, Mirko, Baldassari, Simona, Assereto, Stefania, Biancheri, Roberta, Zara, Federico, Minetti, Carlo, Raimondi, Andrea, Simons, Mikael, Walther, Tobias C., Reinisch, Karin M., De Camilli, Pietro

Volltext

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy von Santorelli, Filippo Maria, Garavaglia, Barbara, Cardona, Francesco, Nardocci, Nardo, Bernardina, Bernardo Dalla, Sartori, Stefano, Suppiej, Agnese, Bertini, Enrico, Claps, Dianela, Battini, Roberta, Biancheri, Roberta, Filocamo, Mirella, Pezzini, Francesco, Simonati, Alessandro

Volltext

The genotypic and phenotypic spectrum of PIGA deficiency von Tarailo-Graovac, Maja, Sinclair, Graham, Stockler-Ipsiroglu, Sylvia, Van Allen, Margot, Rozmus, Jacob, Shyr, Casper, Biancheri, Roberta, Oh, Tracey, Sayson, Bryan, Lafek, Mirafe, Ross, Colin J, Robinson, Wendy P, Wasserman, Wyeth W, Rossi, Andrea, van Karnebeek, Clara D M

Volltext

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease von Tappino, Barbara, Biancheri, Roberta, Mort, Matthew, Regis, Stefano, Corsolini, Fabio, Rossi, Andrea, Stroppiano, Marina, Lualdi, Susanna, Fiumara, Agata, Bembi, Bruno, Di Rocco, Maja, Cooper, David N, Filocamo, Mirella

Volltext

Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form von Biancheri, Roberta, Rosano, Camillo, Denegri, Laura, Lamantea, Eleonora, Pinto, Francesca, Lanza, Federica, Severino, Mariasavina, Filocamo, Mirella

Volltext

Immunomodulatory therapy in recurrent acute necrotizing encephalopathy ANE1: Is it useful? von Bergamino, Laura, Capra, Valeria, Biancheri, Roberta, Rossi, Andrea, Tacchella, Angela, Ambrosini, Linda, Mizuguchi, Masashi, Saitoh, Makiko, Marazzi, Maria Grazia

Volltext

EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement von Biancheri, Roberta, Cassandrini, Denise, Pinto, Francesca, Trovato, Rosanna, Di Rocco, Maja, Mirabelli-Badenier, Marisol, Pedemonte, Marina, Panicucci, Chiara, Trucks, Holger, Sander, Thomas, Zara, Federico, Rossi, Andrea, Striano, Pasquale, Minetti, Carlo, Santorelli, Filippo Maria

Volltext

PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus–Merzbacher disease patients von Regis, Stefano, Grossi, Serena, Corsolini, Fabio, Biancheri, Roberta, Filocamo, Mirella

Volltext

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract von Zara, Federico, Minetti, Carlo, Biancheri, Roberta, Bruno, Claudio, Bordo, Laura, Assereto, Stefania, Gazzerro, Elisabetta, Sotgia, Federica, Wang, Xiao Bo, Gianotti, Stefania, Stringara, Silvia, Pedemonte, Marina, Uziel, Graziella, Rossi, Andrea, Schenone, Angelo, Tortori-Donati, Paolo, van der Knaap, Marjo S, Lisanti, Michael P

Volltext

Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype–Phenotype Correlations von Striano, Pasquale, Mancardi, Maria Margherita, Biancheri, Roberta, Madia, Francesca, Gennaro, Elena, Paravidino, Roberta, Beccaria, Francesca, Capovilla, Giuseppe, Bernardina, Bernardo Dalla, Darra, Francesca, Elia, Maurizio, Giordano, Lucio, Gobbi, Giuseppe, Granata, Tiziana, Ragona, Francesca, Guerrini, Renzo, Marini, Carla, Mei, Davide, Longaretti, Francesca, Romeo, Antonino, Siri, Laura, Specchio, Nicola, Vigevano, Federico, Striano, Salvatore, Tortora, Fabio, Rossi, Andrea, Minetti, Carlo, Dravet, Charlotte, Gaggero, Roberto, Zara, Federico

Volltext

Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein von Gazzerro, Elisabetta, Baldassari, Simona, Giacomini, Caterina, Musante, Veronica, Fruscione, Floriana, La Padula, Veronica, Biancheri, Roberta, Scarfì, Sonia, Prada, Valeria, Sotgia, Federica, Duncan, Ian D, Zara, Federico, Werner, Hauke B, Lisanti, Michael P, Nobbio, Lucilla, Corradi, Anna, Minetti, Carlo

Volltext

Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations von Grossi, Serena, Regis, Stefano, Biancheri, Roberta, Mort, Matthew, Lualdi, Susanna, Bertini, Enrico, Uziel, Graziella, Boespflug-Tanguy, Odile, Simonati, Alessandro, Corsolini, Fabio, Demir, Ercan, Marchiani, Valentina, Percesepe, Antonio, Stanzial, Franco, Rossi, Andrea, Vaurs-Barrière, Catherine, Cooper, David N, Filocamo, Mirella

Volltext

Anti- N -methyl-D-Aspartate-Receptor Encephalitis in a Four-Year-Old Girl von Biancheri, Roberta, MD, PhD, Pessagno, Alice, MD, Baglietto, Maria Giuseppina, MD, PhD, Irani, Sarosh R., MRCP, Rossi, Andrea, MD, Giribaldi, Gaia, MD, Badenier, Marisol Mirabelli, MD, Vincent, Angela, FRCP, Veneselli, Edvige, MD

Volltext

Early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation von Rossi, Daniela, De Grandis, Elisa, Barzaghi, Chiara, Mascaretti, Monica, Garavaglia, Barbara, Zanotto, Elisabetta, Morana, Giovanni, Biancheri, Roberta

Volltext

Phenotypic characterization of hypomyelination and congenital cataract von Biancheri, Roberta, Zara, Federico, Bruno, Claudio, Rossi, Andrea, Bordo, Laura, Gazzerro, Elisabetta, Sotgia, Federica, Pedemonte, Marina, Scapolan, Sara, Bado, Massimo, Uziel, Graziella, Bugiani, Marianna, Lamba, Laura Doria, Costa, Valeria, Schenone, Angelo, Rozemuller, Annemieke J. M., Tortori-Donati, Paolo, Lisanti, Michael P., van der Knaap, Marjo S., Minetti, Carlo

Volltext

Variant Late Infantile Neuronal Ceroid Lipofuscinosis Because of CLN1 Mutations von Simonati, Alessandro, MD, Tessa, Alessandra, PhD, Bernardina, Bernardo Dalla, MD, Biancheri, Roberta, MD, Veneselli, Edvige, MD, Tozzi, Giulia, PhD, Bonsignore, Maria, MD, Grosso, Salvatore, MD, PhD, Piemonte, Fiorella, PhD, Santorelli, Filippo M., MD, PhD

Volltext

Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation von Biancheri, Roberta, Rossi, Andrea, Alpigiani, Giannina, Filocamo, Mirella, Gandolfo, Carlo, Lorini, Renata, Minetti, Carlo

Volltext

Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease von Bachetti, Tiziana, Caroli, Francesco, Bocca, Paola, Prigione, Ignazia, Balbi, Pietro, Biancheri, Roberta, Filocamo, Mirella, Mariotti, Caterina, Pareyson, Davide, Ravazzolo, Roberto, Ceccherini, Isabella

Volltext

Novel mutations in CLN8 in italian variant late infantile neuronal ceroid lipofuscinosis : another genetic hit in the Mediterranean von CANNELLI, Natalia, CASSANDRINI, Denise, SIMONATI, Alessandro, ZARA, Federico, SANTORELLI, Filippo M, BERTINI, Enrico, STRIANO, Pasquale, FUSCO, Lucia, GAGGERO, Roberto, SPECCHIO, Nicola, BIANCHERI, Roberta, VIGEVANO, Federico, BRUNO, Claudio

Volltext

Early‐onset Cobalamin C/D Deficiency: Epilepsy and Electroencephalographic Features von Biancheri, Roberta, Cerone, Roberto, Rossi, Andrea, Schiaffino, Maria Cristina, Caruso, Ubaldo, Minniti, Giuseppe, Perrone, Maria Viviana, Tortori‐Donati, Paolo, Veneselli, Edvige

Volltext