Search Results - "Federico, Zara"

PRRT2: from Paroxysmal Disorders to Regulation of Synaptic Function by Valtorta, Flavia, Benfenati, Fabio, Zara, Federico, Meldolesi, Jacopo

“…In the past few years, proline-rich transmembrane protein (PRRT)2 has been identified as the causative gene for several paroxysmal neurological disorders…”
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PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity by Fruscione, Floriana, Valente, Pierluigi, Sterlini, Bruno, Romei, Alessandra, Baldassari, Simona, Fadda, Manuela, Prestigio, Cosimo, Giansante, Giorgia, Sartorelli, Jacopo, Rossi, Pia, Rubio, Alicia, Gambardella, Antonio, Nieus, Thierry, Broccoli, Vania, Fassio, Anna, Baldelli, Pietro, Corradi, Anna, Zara, Federico, Benfenati, Fabio

“…See Lerche (doi:10.1093/brain/awy073) for a scientific commentary on this article. PRRT2 mutations cause heterogeneous paroxysmal neurological disorders. Using…”
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TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons by Aprile, Davide, Fruscione, Floriana, Baldassari, Simona, Fadda, Manuela, Ferrante, Daniele, Falace, Antonio, Buhler, Emmanuelle, Sartorelli, Jacopo, Represa, Alfonso, Baldelli, Pietro, Benfenati, Fabio, Zara, Federico, Fassio, Anna

“…Mutations in TBC1D24 are described in patients with a spectrum of neurological diseases, including mild and severe epilepsies and complex syndromic phenotypes…”
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Familial adult myoclonic epilepsy: A new expansion repeats disorder by Lagorio, Ilaria, Zara, Federico, Striano, Salvatore, Striano, Pasquale

“…•The expansion of non coding TTTTA and TTTCA repeats has been identified as the cause of FAME1.•Diagnosis is supported by clinical features and…”
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The genetics of Dravet syndrome by Marini, Carla, Scheffer, Ingrid E., Nabbout, Rima, Suls, Arvid, De Jonghe, Peter, Zara, Federico, Guerrini, Renzo

“…Summary Dravet syndrome (DS), otherwise known as severe myoclonic epilepsy of infancy (SMEI), is an epileptic encephalopathy presenting in the first year of…”
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Assessing the landscape of STXBP1-related disorders in 534 individuals by Xian, Julie, Parthasarathy, Shridhar, Ruggiero, Sarah M, Balagura, Ganna, Fitch, Eryn, Helbig, Katherine, Gan, Jing, Ganesan, Shiva, Kaufman, Michael C, Ellis, Colin A, Lewis-Smith, David, Galer, Peter, Cunningham, Kristin, O'Brien, Margaret, Cosico, Mahgenn, Baker, Kate, Darling, Alejandra, Veiga de Goes, Fernanda, El Achkar, Christelle M, Doering, Jan Henje, Furia, Francesca, García-Cazorla, Ángeles, Gardella, Elena, Geertjens, Lisa, Klein, Courtney, Kolesnik-Taylor, Anna, Lammertse, Hanna, Lee, Jeehun, Mackie, Alexandra, Misra-Isrie, Mala, Olson, Heather, Sexton, Emma, Sheidley, Beth, Smith, Lacey, Sotero, Luiza, Stamberger, Hannah, Syrbe, Steffen, Thalwitzer, Kim Marie, van Berkel, Annemiek, van Haelst, Mieke, Yuskaitis, Christopher, Weckhuysen, Sarah, Prosser, Ben, Son Rigby, Charlene, Demarest, Scott, Pierce, Samuel, Zhang, Yuehua, Møller, Rikke S, Bruining, Hilgo, Poduri, Annapurna, Zara, Federico, Verhage, Matthijs, Striano, Pasquale, Helbig, Ingo

“…Disease-causing variants in STXBP1 are among the most common genetic causes of neurodevelopmental disorders. However, the phenotypic spectrum in STXBP1-related…”
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Partial Rescue of F508del-CFTR Stability and Trafficking Defects by Double Corrector Treatment by Capurro, Valeria, Tomati, Valeria, Sondo, Elvira, Renda, Mario, Borrelli, Anna, Pastorino, Cristina, Guidone, Daniela, Venturini, Arianna, Giraudo, Alessandro, Mandrup Bertozzi, Sine, Musante, Ilaria, Bertozzi, Fabio, Bandiera, Tiziano, Zara, Federico, Galietta, Luis J. V., Pedemonte, Nicoletta

“…Deletion of phenylalanine at position 508 (F508del) in the CFTR chloride channel is the most frequent mutation in cystic fibrosis (CF) patients. F508del…”
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Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies by Carvill, Gemma L., Engel, Krysta L., Ramamurthy, Aishwarya, Cochran, J. Nicholas, Roovers, Jolien, Stamberger, Hannah, Lim, Nicholas, Schneider, Amy L., Hollingsworth, Georgie, Holder, Dylan H., Regan, Brigid M., Lawlor, James, Lagae, Lieven, Ceulemans, Berten, Bebin, E. Martina, Nguyen, John, Striano, Pasquale, Zara, Federico, Helbig, Ingo, Møller, Rikke S., von Spiczak, Sarah, Muhle, Hiltrud, Caglayan, Hande, Sterbova, Katalin, Craiu, Dana, Hoffman, Dorota, Lehesjoki, Anna-Elina, Selmer, Kaja, Depienne, Christel, Lemke, Johannes, Marini, Carla, Guerrini, Renzo, Neubauer, Bernd, Talvik, Tiina, Leguern, Eric, de Jonghe, Peter, Weckhuysen, Sarah, Barsh, Gregory S., Weckhuysen, Sarah, Meisler, Miriam, Berkovic, Samuel F., De Jonghe, Peter, Scheffer, Ingrid E., Myers, Richard M., Cooper, Gregory M., Mefford, Heather C.

“…Developmental and epileptic encephalopathies (DEEs) are a group of severe epilepsies characterized by refractory seizures and developmental impairment…”
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The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations by Michetti, Caterina, Castroflorio, Enrico, Marchionni, Ivan, Forte, Nicola, Sterlini, Bruno, Binda, Francesca, Fruscione, Floriana, Baldelli, Pietro, Valtorta, Flavia, Zara, Federico, Corradi, Anna, Benfenati, Fabio

“…Abstract Heterozygous and rare homozygous mutations in PRoline-Rich Transmembrane protein 2 (PRRT2) underlie a group of paroxysmal disorders including…”
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The spectrum of intermediate SCN8A‐related epilepsy by Johannesen, Katrine M., Gardella, Elena, Encinas, Alejandra C., Lehesjoki, Anna‐Elina, Linnankivi, Tarja, Petersen, Michael B., Lund, Ida Charlotte Bay, Blichfeldt, Susanne, Miranda, Maria J., Pal, Deb K., Lascelles, Karine, Procopis, Peter, Orsini, Alessandro, Bonuccelli, Alice, Giacomini, Thea, Helbig, Ingo, Fenger, Christina D., Sisodiya, Sanjay M., Hernandez‐Hernandez, Laura, Krithika, Sundararaman, Rumple, Melissa, Masnada, Silvia, Valente, Marialuisa, Cereda, Cristina, Giordano, Lucio, Accorsi, Patrizia, Bürki, Sarah E., Mancardi, Margherita, Korff, Christian, Guerrini, Renzo, Spiczak, Sarah, Hoffman‐Zacharska, Dorota, Mazurczak, Tomasz, Coppola, Antonietta, Buono, Salvatore, Vecchi, Marilena, Hammer, Michael F., Varesio, Costanza, Veggiotti, Pierangelo, Lal, Dennis, Brünger, Tobias, Zara, Federico, Striano, Pasquale, Rubboli, Guido, Møller, Rikke S.

“…Summary Objective Pathogenic variants in SCN8A have been associated with a wide spectrum of epilepsy phenotypes, ranging from benign familial infantile…”
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Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy by Dilena, Robertino, Striano, Pasquale, Gennaro, Elena, Bassi, Laura, Olivotto, Sara, Tadini, Laura, Mosca, Fabio, Barbieri, Sergio, Zara, Federico, Fumagalli, Monica

“…Abstract Background Recent clinical evidence supports a targeted therapeutic approach for genetic epileptic encephalopathies based on the molecular…”
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Autosomal dominant cortical tremor, myoclonus and epilepsy by Striano, Pasquale, Zara, Federico

“…The term ‘cortical tremor’ was first introduced by Ikeda and colleagues to indicate a postural and action‐induced shivering movement of the hands which mimics…”
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Progress of Induced Pluripotent Stem Cell Technologies to Understand Genetic Epilepsy by Sterlini, Bruno, Fruscione, Floriana, Baldassari, Simona, Benfenati, Fabio, Zara, Federico, Corradi, Anna

“…The study of the pathomechanisms by which gene mutations lead to neurological diseases has benefit from several cellular and animal models. Recently, induced…”
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Neuroblastoma Patients’ Outcome and Chromosomal Instability by Ognibene, Marzia, De Marco, Patrizia, Amoroso, Loredana, Fragola, Martina, Zara, Federico, Parodi, Stefano, Pezzolo, Annalisa

“…Chromosomal instability (CIN) induces a high rate of losses or gains of whole chromosomes or parts of chromosomes. It is a hallmark of most human cancers and…”
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Genomic Analysis Made It Possible to Identify Gene-Driver Alterations Covering the Time Window between Diagnosis of Neuroblastoma 4S and the Progression to Stage 4 by Ognibene, Marzia, De Marco, Patrizia, Parodi, Stefano, Meli, Mariaclaudia, Di Cataldo, Andrea, Zara, Federico, Pezzolo, Annalisa

“…Neuroblastoma (NB) is a tumor of the developing sympathetic nervous system. Despite recent advances in understanding the complexity of NB, the mechanisms that…”
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The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane by 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

“…Baskin et al.  report that FAM126A, which is mutated in hypomyelination and congenital cataract, regulates PI4KIII, the kinase generating PtdIns(4)P. Loss of…”
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PRRT2 Is a Key Component of the Ca2+-Dependent Neurotransmitter Release Machinery by Valente, Pierluigi, Castroflorio, Enrico, Rossi, Pia, Fadda, Manuela, Sterlini, Bruno, Cervigni, Romina Ines, Prestigio, Cosimo, Giovedì, Silvia, Onofri, Franco, Mura, Elisa, Guarnieri, Fabrizia C., Marte, Antonella, Orlando, Marta, Zara, Federico, Fassio, Anna, Valtorta, Flavia, Baldelli, Pietro, Corradi, Anna, Benfenati, Fabio

“…Heterozygous mutations in proline-rich transmembrane protein 2 (PRRT2) underlie a group of paroxysmal disorders, including epilepsy, kinesigenic dyskinesia,…”
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TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway by Falace, Antonio, Buhler, Emmanuelle, Fadda, Manuela, Watrin, Françoise, Lippiello, Pellegrino, Pallesi-Pocachard, Emilie, Baldelli, Pietro, Benfenati, Fabio, Zara, Federico, Represa, Alfonso, Fassio, Anna, Cardoso, Carlos

“…Alterations in the formation of brain networks are associated with several neurodevelopmental disorders. Mutations in TBC1 domain family member 24 (TBC1D24)…”
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NF1 microdeletion syndrome: case report of two new patients by Serra, Gregorio, Antona, Vincenzo, Corsello, Giovanni, Zara, Federico, Piro, Ettore, Falsaperla, Raffaele

“…17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of…”
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SLC26A9 as a Potential Modifier and Therapeutic Target in Cystic Fibrosis Lung Disease by Gorrieri, Giulia, Zara, Federico, Scudieri, Paolo

“…SLC26A9 belongs to the solute carrier family 26 (SLC26), which comprises membrane proteins involved in ion transport mechanisms. On the basis of different…”
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