A mortality cohort study among workers in a graphite electrode production plant in Italy von Merlo, D F, Garattini, S, Gelatti, U, Simonati, C, Covolo, L, Ceppi, M, Donato, F

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Etiology of hepatocellular carcinoma influences clinical and pathologic features but not patient survival von Gelatti, Umberto, Donato, Francesco, Tagger, Alessandro, Fantoni, Cristina, Portolani, Nazario, Ribero, Maria Lisa, Martelli, Claudia, Trevisi, Paola, Covolo, Loredana, Simonati, Cristina, Nardi, Giuseppe

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Neurodegeneration associated with genetic defects in phospholipase A2 von GREGORY, A, WESTAWAY, S. K, RODRIGUEZ, D, DESGUERRE, I, BERTINI, E, SIMONATI, A, LEVINSON, B, DIAS, C, BARBOT, C, CARRILHO, I, SANTOS, M, MALIK, I, HOLM, I. E, GITSCHIER, J, HAYFLICK, S. J, KOTZBAUER, P. T, HOGARTH, P, SONEK, S, CORYELL, J. C, NGUYEN, T. M, NARDOCCI, N, ZORZI, G

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Early white matter involvement in an infant carrying a novel mutation in ACOX1 von Masson, R, Guerra, S, Cerini, R, Pensato, V, Gellera, C, Taroni, F, Simonati, A., MD

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Neurodegeneration associated with genetic defects in phospholipase A(2) von Gregory, A, Westaway, S K, Holm, I E, Kotzbauer, P T, Hogarth, P, Sonek, S, Coryell, J C, Nguyen, T M, Nardocci, N, Zorzi, G, Rodriguez, D, Desguerre, I, Bertini, E, Simonati, A, Levinson, B, Dias, C, Barbot, C, Carrilho, I, Santos, M, Malik, I, Gitschier, J, Hayflick, S J

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Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients von Mole, Sara E, Schulz, Angela, Badoe, Eben, Berkovic, Samuel F, de Los Reyes, Emily C, Dulz, Simon, Gissen, Paul, Guelbert, Norberto, Lourenco, Charles M, Mason, Heather L, Mink, Jonathan W, Murphy, Noreen, Nickel, Miriam, Olaya, Joffre E, Scarpa, Maurizio, Scheffer, Ingrid E, Simonati, Alessandro, Specchio, Nicola, Von Löbbecke, Ina, Wang, Raymond Y, Williams, Ruth E

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Management of CLN1 Disease: International Clinical Consensus von Augustine, Erika F., Adams, Heather R., de los Reyes, Emily, Drago, Kristen, Frazier, Margie, Guelbert, Norberto, Laine, Minna, Levin, Tanya, Mink, Jonathan W., Nickel, Miriam, Peifer, Danielle, Schulz, Angela, Simonati, Alessandro, Topcu, Meral, Turunen, Joni A., Williams, Ruth, Wirrell, Elaine C., King, Sharon

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PLA2G6 , encoding a phospholipase A 2 , is mutated in neurodegenerative disorders with high brain iron von Hayflick, Susan J, Morgan, Neil V, Westaway, Shawn K, Morton, Jenny E V, Gregory, Allison, Gissen, Paul, Sonek, Scott, Cangul, Hakan, Coryell, Jason, Canham, Natalie, Nardocci, Nardo, Zorzi, Giovanna, Pasha, Shanaz, Rodriguez, Diana, Desguerre, Isabelle, Mubaidin, Amar, Bertini, Enrico, Trembath, Richard C, Simonati, Alessandro, Schanen, Carolyn, Johnson, Colin A, Levinson, Barbara, Woods, C Geoffrey, Wilmot, Beth, Kramer, Patricia, Gitschier, Jane, Maher, Eamonn R

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Pontocerebellar hypoplasia: Clinical, pathologic, and genetic studies von CASSANDRINI, D, BIANCHERI, R, EMMA, F, MEZZANO, P, POLITI, M. R, LAVERDA, A. M, ZARA, F, PAVONE, L, SIMONATI, A, LEUZZI, V, SANTORELLI, F. M, BERTINI, E, TESSA, A, DI ROCCO, M, DI CAPUA, M, BRUNO, C, DENORA, P. S, SARTORI, S, ROSSI, A, NOZZA, P

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Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease von Di Fabio, Roberto, Moro, Francesca, Pestillo, Liliana, Meschini, Maria C, Pezzini, Francesco, Doccini, Stefano, Casali, Carlo, Pierelli, Francesco, Simonati, Alessandro, Santorelli, Filippo M

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The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum von Howard, Heidi C, Prévost, Claude, Lemcke, Beate, Delpire, Eric, Simonati, Alessandro, George, Alfred L, McDonald, Michael P, England, Roger, Dupré, Nicolas, Welch, Rick, Mount, David B, Lu, Jianming, Mathieu, Jean, Rivière, Jean-Baptiste, Mercado, Adriana, Siesser, William B, Byun, Nellie, Horst, Jürgen, Fan, Xuemo, Zhan, Frank Q, Bouchard, Jean-Pierre, Rouleau, Guy A, Rochefort, Daniel, Song, Luyan

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Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network von Heard, Jean-Michel, Vrinten, Charlotte, Schlander, Michael, Bellettato, Cinzia Maria, van Lingen, Corine, Scarpa, Maurizio

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Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6 von Cannelli, Natalia, Garavaglia, Barbara, Simonati, Alessandro, Aiello, Chiara, Barzaghi, Chiara, Pezzini, Francesco, Cilio, Maria Roberta, Biancheri, Roberta, Morbin, Michela, Bernardina, Bernardo Dalla, Granata, Tiziana, Tessa, Alessandra, Invernizzi, Federica, Pessagno, Alice, Boldrini, Renata, Zibordi, Federica, Grazian, Luisa, Claps, Dianela, Carrozzo, Rosalba, Mole, Sara E., Nardocci, Nardo, Santorelli, Filippo M.

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Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions von Ferraris, Alessandro, Bernardini, Laura, Sabolic Avramovska, Vesna, Zanni, Ginevra, Loddo, Sara, Sukarova-Angelovska, Elena, Parisi, Valentina, Capalbo, Anna, Tumini, Stefano, Travaglini, Lorena, Mancini, Francesca, Duma, Filip, Barresi, Sabina, Novelli, Antonio, Mercuri, Eugenio, Tarani, Luigi, Bertini, Enrico, Dallapiccola, Bruno, Valente, Enza Maria

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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

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GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings von Caciotti, Anna, Garman, Scott C., Rivera-Colón, Yadilette, Procopio, Elena, Catarzi, Serena, Ferri, Lorenzo, Guido, Carmen, Martelli, Paola, Parini, Rossella, Antuzzi, Daniela, Battini, Roberta, Sibilio, Michela, Simonati, Alessandro, Fontana, Elena, Salviati, Alessandro, Akinci, Gulcin, Cereda, Cristina, Dionisi-Vici, Carlo, Deodato, Francesca, d'Amico, Adele, d'Azzo, Alessandra, Bertini, Enrico, Filocamo, Mirella, Scarpa, Maurizio, di Rocco, Maja, Tifft, Cynthia J., Ciani, Federica, Gasperini, Serena, Pasquini, Elisabetta, Guerrini, Renzo, Donati, Maria Alice, Morrone, Amelia

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Dementia, delusions and seizures: storage disease or genetic AD? von Alberici, A., Bonato, C., Borroni, B., Cotelli, M., Mattioli, F., Binetti, G., Gennarelli, M., Luca, M. D., Simonati, A., Perani, D., Rossini, P., Padovani, A.

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Revelation of a Novel CLN5 Mutation in Early Juvenile Neuronal Ceroid Lipofuscinosis von Cannelli, N., Nardocci, N., Cassandrini, D., Morbin, M., Aiello, C., Bugiani, M., Criscuolo, L., Zara, F., Striano, P., Granata, T., Bertini, E., Simonati, A., Santorelli, F. M.

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RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders von Brancati, F, Travaglini, L, Zablocka, D, Boltshauser, E, Accorsi, P, Montagna, G, Silhavy, JL, Barrano, G, Bertini, E, Emma, F, Rigoli, L, Dallapiccola, B, Gleeson, JG, Valente, EM

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Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease) von SIMONATI, Alessandro, FILOSTO, Massimiliano, SAVIO, Chiara, TOMELLERI, Giuliano, TONIN, Paola, DALLA BERNARDINA, Bernardo, RIZZUTO, Nicolo'

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