Works by Zara, Federico

Results: 160
    1

    Pharmacological rescue of the G85E CFTR variant by preclinical and approved modulators.

    Published in:
    Frontiers in Pharmacology, 2024, p. 1, doi. 10.3389/fphar.2024.1494327
    By:
    • Tomati, Valeria;
    • Capurro, Valeria;
    • Pesce, Emanuela;
    • Pastorino, Cristina;
    • Sondo, Elvira;
    • Lena, Mariateresa;
    • Borrelli, Anna;
    • Cresta, Federico;
    • Pantano, Stefano;
    • Collini, Francesca;
    • Ripani, Pietro;
    • Terlizzi, Vito;
    • Fevola, Cristina;
    • Costa, Stefano;
    • Lucanto, Maria Cristina;
    • Zara, Federico;
    • Bandiera, Tiziano;
    • Bocciardi, Renata;
    • Castellani, Carlo;
    • Galietta, Luis J. V.
    Publication type:
    Article
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    Neuromuscular and Neuroendocrinological Features Associated With ZC4H2 -Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report.

    Published in:
    Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.704747
    By:
    • Piccolo, Gianluca;
    • d'Annunzio, Giuseppe;
    • Amadori, Elisabetta;
    • Riva, Antonella;
    • Borgia, Paola;
    • Tortora, Domenico;
    • Maghnie, Mohamad;
    • Minetti, Carlo;
    • Gitto, Eloisa;
    • Iacomino, Michele;
    • Baldassari, Simona;
    • Fiorillo, Chiara;
    • Zara, Federico;
    • Striano, Pasquale;
    • Salpietro, Vincenzo
    Publication type:
    Article
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    Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63824
    By:
    • Chelleri, Cristina;
    • Brolatti, Noemi;
    • De Marco, Patrizia;
    • Ognibene, Marzia;
    • Diana, Maria Cristina;
    • Madia, Francesca;
    • Duca, Marco Di;
    • Santangelo, Andrea;
    • Capra, Valeria;
    • Striano, Pasquale;
    • Zara, Federico;
    • Scala, Marcello
    Publication type:
    Article
    6

    Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63534
    By:
    • Romano, Ferruccio;
    • Haanpää, Maria K.;
    • Pomianowski, Pawel;
    • Peraino, Amanda Rose;
    • Pollard, John R.;
    • Di Feo, Maria Francesca;
    • Traverso, Monica;
    • Severino, Mariasavina;
    • Derchi, Maria;
    • Henzen, Edoardo;
    • Zara, Federico;
    • Faravelli, Francesca;
    • Capra, Valeria;
    • Scala, Marcello
    Publication type:
    Article
    7

    Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development.

    Published in:
    Frontiers in Neuroscience, 2020, v. 14, p. 1, doi. 10.3389/fnins.2020.00644
    By:
    • Iacomino, Michele;
    • Baldassari, Simona;
    • Tochigi, Yuki;
    • Kośla, Katarzyna;
    • Buffelli, Francesca;
    • Torella, Annalaura;
    • Severino, Mariasavina;
    • Paladini, Dario;
    • Mandarà, Luana;
    • Riva, Antonella;
    • Scala, Marcello;
    • Balagura, Ganna;
    • Accogli, Andrea;
    • Nigro, Vincenzo;
    • Minetti, Carlo;
    • Fulcheri, Ezio;
    • Zara, Federico;
    • Bednarek, Andrzej K.;
    • Striano, Pasquale;
    • Suzuki, Hiroetsu
    Publication type:
    Article
    8

    CACNA1A loss-of-function affects neurogenesis in human iPSC-derived neural models.

    Published in:
    Cellular & Molecular Life Sciences, 2025, v. 82, n. 1, p. 1, doi. 10.1007/s00018-025-05740-7
    By:
    • Musante, Ilaria;
    • Cangelosi, Davide;
    • Muzzi, Lorenzo;
    • Jaudon, Fanny;
    • Di Duca, Marco;
    • Guerrisi, Sara;
    • Antonini, Francesca;
    • De Spelorzi, Yeraldin Chiquinquira Castillo;
    • Cingolani, Lorenzo A.;
    • Zara, Federico;
    • Scudieri, Paolo
    Publication type:
    Article
    9

    Esc peptides and derivatives potentiate the activity of CFTR with gating defects and display antipseudomonal activity in cystic fibrosis-like lung disease: Peptides for dual antimicrobial and CFTR potentiator function: L. Ferrera et al.

    Published in:
    Cellular & Molecular Life Sciences, 2025, v. 82, n. 1, p. 1, doi. 10.1007/s00018-025-05633-9
    By:
    • Ferrera, Loretta;
    • Cappiello, Floriana;
    • Venturini, Arianna;
    • Lu, Hexin;
    • Casciaro, Bruno;
    • Cappella, Giacomo;
    • Bontempi, Giulio;
    • Corrente, Alessandra;
    • Strippoli, Raffaele;
    • Zara, Federico;
    • Di, Y. Peter;
    • Galietta, Luis J. V.;
    • Mori, Mattia;
    • Mangoni, Maria Luisa
    Publication type:
    Article
    10

    Clinical features and genotype–phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

    Published in:
    Epilepsia (Series 4), 2024, v. 65, n. 9, p. 2728, doi. 10.1111/epi.18054
    By:
    • Cuccurullo, Claudia;
    • Cerulli Irelli, Emanuele;
    • Ugga, Lorenzo;
    • Riva, Antonella;
    • D'Amico, Alessandra;
    • Cabet, Sara;
    • Lesca, Gaetan;
    • Bilo, Leonilda;
    • Zara, Federico;
    • Iliescu, Catrinel;
    • Barca, Diana;
    • Fung, France;
    • Helbig, Katherine;
    • Ortiz‐Gonzalez, Xilma;
    • Schelhaas, Helenius J.;
    • Willemsen, Marjolein H.;
    • van der Linden, Inge;
    • Canafoglia, Laura;
    • Courage, Carolina;
    • Gommaraschi, Samuele
    Publication type:
    Article
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    De novo KCNA6 variants with attenuated K<sub>V</sub>1.6 channel deactivation in patients with epilepsy.

    Published in:
    Epilepsia (Series 4), 2023, v. 64, n. 2, p. 443, doi. 10.1111/epi.17455
    By:
    • Salpietro, Vincenzo;
    • Galassi Deforie, Valentina;
    • Efthymiou, Stephanie;
    • O'Connor, Emer;
    • Marcé‐Grau, Anna;
    • Maroofian, Reza;
    • Striano, Pasquale;
    • Zara, Federico;
    • Morrow, Michelle M.;
    • Reich, Adi;
    • Blevins, Amy;
    • Sala‐Coromina, Júlia;
    • Accogli, Andrea;
    • Fortuna, Sara;
    • Alesandrini, Marie;
    • Au, P. Y. Billie;
    • Singhal, Nilika Shah;
    • Cogne, Benjamin;
    • Isidor, Bertrand;
    • Hanna, Michael G.
    Publication type:
    Article
    13

    A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam.

    Published in:
    Epilepsia (Series 4), 2022, v. 63, n. 6, p. 1563, doi. 10.1111/epi.17228
    By:
    • Campbell, Ciarán;
    • McCormack, Mark;
    • Patel, Sonn;
    • Stapleton, Caragh;
    • Bobbili, Dheeraj;
    • Krause, Roland;
    • Depondt, Chantal;
    • Sills, Graeme J.;
    • Koeleman, Bobby P.;
    • Striano, Pasquale;
    • Zara, Federico;
    • Sander, Josemir W.;
    • Lerche, Holger;
    • Kunz, Wolfram S.;
    • Stefansson, Kari;
    • Stefansson, Hreinn;
    • Doherty, Colin P.;
    • Heinzen, Erin L.;
    • Scheffer, Ingrid E.;
    • Goldstein, David B.
    Publication type:
    Article
    14

    No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.

    Published in:
    Epilepsia (Series 4), 2019, v. 60, n. 5, p. e31, doi. 10.1111/epi.14657
    By:
    • Schulz, Herbert;
    • Ruppert, Ann‐Kathrin;
    • Zara, Federico;
    • Madia, Francesca;
    • Iacomino, Michele;
    • S. Vari, Maria;
    • Balagura, Ganna;
    • Minetti, Carlo;
    • Striano, Pasquale;
    • Bianchi, Amedeo;
    • Marini, Carla;
    • Guerrini, Renzo;
    • Weber, Yvonne G.;
    • Becker, Felicitas;
    • Lerche, Holger;
    • Kapser, Claudia;
    • Schankin, Christoph J.;
    • Kunz, Wolfram S.;
    • Møller, Rikke S.;
    • Oliver, Karen L.
    Publication type:
    Article
    15

    Alterations in the α<sub>2</sub>δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies.

    Published in:
    Epilepsia (Series 4), 2017, v. 58, n. 11, p. 1993, doi. 10.1111/epi.13898
    By:
    • Santolini, Ines;
    • Celli, Roberta;
    • Cannella, Milena;
    • Imbriglio, Tiziana;
    • Guiducci, Michela;
    • Parisi, Pasquale;
    • Schubert, Julian;
    • Iacomino, Michele;
    • Zara, Federico;
    • Lerche, Holger;
    • Moyanova, Slavianka;
    • Ngomba, Richard Teke;
    • Luijtelaar, Gilles;
    • Battaglia, Giuseppe;
    • Bruno, Valeria;
    • Striano, Pasquale;
    • Nicoletti, Ferdinando;
    • Palotie, Aarno;
    • Folkhälsan, Anna ‐ Elina Lehesjoki;
    • Ruppert, Ann ‐ Kathrin
    Publication type:
    Article
    16

    The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.

    Published in:
    Epilepsia (Series 4), 2015, v. 56, n. 12, p. e203, doi. 10.1111/epi.13222
    By:
    • Larsen, Jan;
    • Johannesen, Katrine Marie;
    • Ek, Jakob;
    • Tang, Shan;
    • Marini, Carla;
    • Blichfeldt, Susanne;
    • Kibæk, Maria;
    • Spiczak, Sarah;
    • Weckhuysen, Sarah;
    • Frangu, Mimoza;
    • Neubauer, Bernd Axel;
    • Uldall, Peter;
    • Striano, Pasquale;
    • Zara, Federico;
    • Kleiss, Rebecca;
    • Simpson, Michael;
    • Muhle, Hiltrud;
    • Nikanorova, Marina;
    • Jepsen, Birgit;
    • Tommerup, Niels
    Publication type:
    Article
    17

    Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy.

    Published in:
    Epilepsia (Series 4), 2015, v. 56, n. 9, p. e129, doi. 10.1111/epi.13076
    By:
    • Lal, Dennis;
    • Pernhorst, Katharina;
    • Klein, Karl Martin;
    • Reif, Philipp;
    • Tozzi, Rossana;
    • Toliat, Mohammad R.;
    • Winterer, Georg;
    • Neubauer, Bernd;
    • Nürnberg, Peter;
    • Rosenow, Felix;
    • Becker, Felicitas;
    • Lerche, Holger;
    • Kunz, Wolfram S.;
    • Kurki, Mitja I.;
    • Hoffmann, Per;
    • Becker, Albert J.;
    • Perucca, Emilio;
    • Zara, Federico;
    • Sander, Thomas;
    • Weber, Yvonne G.
    Publication type:
    Article
    18

    No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy.

    Published in:
    Epilepsia (Series 4), 2015, v. 56, n. 4, p. e40, doi. 10.1111/epi.12944
    By:
    • Mumoli, Laura;
    • Tarantino, Patrizia;
    • Michelucci, Roberto;
    • Bianchi, Amedeo;
    • Labate, Angelo;
    • Franceschetti, Silvana;
    • Marini, Carla;
    • Striano, Pasquale;
    • Gagliardi, Monica;
    • Ferlazzo, Edoardo;
    • Sofia, Vito;
    • Pennese, Loredana;
    • Annesi, Grazia;
    • Aguglia, Umberto;
    • Guerrini, Renzo;
    • Zara, Federico;
    • Gambardella, Antonio
    Publication type:
    Article
    19
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    Mild Lafora disease: Clinical, neurophysiologic, and genetic findings.

    Published in:
    Epilepsia (Series 4), 2014, v. 55, n. 12, p. e129, doi. 10.1111/epi.12806
    By:
    • Ferlazzo, Edoardo;
    • Canafoglia, Laura;
    • Michelucci, Roberto;
    • Gambardella, Antonio;
    • Gennaro, Elena;
    • Pasini, Elena;
    • Riguzzi, Patrizia;
    • Plasmati, Rosaria;
    • Volpi, Lilia;
    • Labate, Angelo;
    • Gasparini, Sara;
    • Villani, Flavio;
    • Casazza, Marina;
    • Viri, Maurizio;
    • Zara, Federico;
    • Minassian, Berge A.;
    • Turnbull, Julie;
    • Serratosa, Jose M.;
    • Guerrero‐López, Rosa;
    • Franceschetti, Silvana
    Publication type:
    Article
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    Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance.

    Published in:
    Epilepsia (Series 4), 2013, v. 54, n. 3, p. 425, doi. 10.1111/epi.12089
    By:
    • Zara, Federico;
    • Specchio, Nicola;
    • Striano, Pasquale;
    • Robbiano, Angela;
    • Gennaro, Elena;
    • Paravidino, Roberta;
    • Vanni, Nicola;
    • Beccaria, Francesca;
    • Capovilla, Giuseppe;
    • Bianchi, Amedeo;
    • Caffi, Lorella;
    • Cardilli, Viviana;
    • Darra, Francesca;
    • Bernardina, Bernardo Dalla;
    • Fusco, Lucia;
    • Gaggero, Roberto;
    • Giordano, Lucio;
    • Guerrini, Renzo;
    • Incorpora, Gemma;
    • Mastrangelo, Massimo
    Publication type:
    Article
    25

    Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.

    Published in:
    Epilepsia (Series 4), 2012, v. 53, n. 12, p. 2120, doi. 10.1111/j.1528-1167.2012.03718.x
    By:
    • Canafoglia, Laura;
    • Gennaro, Elena;
    • Capovilla, Giuseppe;
    • Gobbi, Giuseppe;
    • Boni, Antonella;
    • Beccaria, Francesca;
    • Viri, Maurizio;
    • Michelucci, Roberto;
    • Agazzi, Pamela;
    • Assereto, Stefania;
    • Coviello, Domenico A.;
    • Di Stefano, Maria;
    • Rossi Sebastiano, Davide;
    • Franceschetti, Silvana;
    • Zara, Federico
    Publication type:
    Article
    26
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    Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.

    Published in:
    Epilepsia (Series 4), 2012, v. 53, n. 2, p. 308, doi. 10.1111/j.1528-1167.2011.03379.x
    By:
    • Leu, Costin;
    • de Kovel, Carolien G.F.;
    • Zara, Federico;
    • Striano, Pasquale;
    • Pezzella, Marianna;
    • Robbiano, Angela;
    • Bianchi, Amedeo;
    • Bisulli, Francesca;
    • Coppola, Antonietta;
    • Giallonardo, Anna Teresa;
    • Beccaria, Francesca;
    • Trenité, Dorothée Kasteleijn-Nolst;
    • Lindhout, Dick;
    • Gaus, Verena;
    • Schmitz, Bettina;
    • Janz, Dieter;
    • Weber, Yvonne G.;
    • Becker, Felicitas;
    • Lerche, Holger;
    • Kleefuß-Lie, Ailing A.
    Publication type:
    Article
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    The genetics of Dravet syndrome.

    Published in:
    Epilepsia (Series 4), 2011, v. 52, p. 24, doi. 10.1111/j.1528-1167.2011.02997.x
    By:
    • Marini, Carla;
    • Scheffer, Ingrid E.;
    • Nabbout, Rima;
    • Suls, Arvid;
    • De Jonghe, Peter;
    • Zara, Federico;
    • Guerrini, Renzo
    Publication type:
    Article
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    A pilot trial of levetiracetam in eyelid myoclonia with absences (Jeavons syndrome).

    Published in:
    Epilepsia (Series 4), 2008, v. 49, n. 3, p. 425, doi. 10.1111/j.1528-1167.2007.01524.x
    By:
    • Striano, Pasquale;
    • Sofia, Vito;
    • Capovilla, Giuseppe;
    • Rubboli, Guido;
    • Di Bonaventura, Carlo;
    • Coppola, Antonietta;
    • Vitale, Giuseppina;
    • Fontanillas, Luis;
    • Giallonardo, Anna Teresa;
    • Biondi, Roberto;
    • Romeo, Antonino;
    • Viri, Maurizio;
    • Zara, Federico;
    • Striano, Salvatore
    Publication type:
    Article
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    Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel.

    Published in:
    Biomedicines, 2021, v. 9, n. 1, p. 75, doi. 10.3390/biomedicines9010075
    By:
    • Imbrici, Paola;
    • Accogli, Andrea;
    • Blunck, Rikard;
    • Altamura, Concetta;
    • Iacomino, Michele;
    • D'Adamo, Maria Cristina;
    • Allegri, Anna;
    • Pedemonte, Marina;
    • Brolatti, Noemi;
    • Vari, Stella;
    • Cataldi, Matteo;
    • Capra, Valeria;
    • Gustincich, Stefano;
    • Zara, Federico;
    • Desaphy, Jean-Francois;
    • Fiorillo, Chiara
    Publication type:
    Article
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    STXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG.

    Published in:
    Frontiers in Physiology, 2021, v. 12, p. 1, doi. 10.3389/fphys.2021.775172
    By:
    • Houtman, Simon J.;
    • Lammertse, Hanna C. A.;
    • van Berkel, Annemiek A.;
    • Balagura, Ganna;
    • Gardella, Elena;
    • Ramautar, Jennifer R.;
    • Reale, Chiara;
    • Møller, Rikke S.;
    • Zara, Federico;
    • Striano, Pasquale;
    • Misra-Isrie, Mala;
    • van Haelst, Mieke M.;
    • Engelen, Marc;
    • van Zuijen, Titia L.;
    • Mansvelder, Huibert D.;
    • Verhage, Matthijs;
    • Bruining, Hilgo;
    • Linkenkaer-Hansen, Klaus
    Publication type:
    Article
    50

    Novel biallelic variants expand the phenotype of NAA20‐related syndrome.

    Published in:
    Clinical Genetics, 2023, v. 104, n. 3, p. 371, doi. 10.1111/cge.14359
    By:
    • D'Onofrio, Gianluca;
    • Cuccurullo, Claudia;
    • Larsen, Silje Kathrine;
    • Severino, Mariasavina;
    • D'Amico, Alessandra;
    • Brønstad, Kirsten;
    • AlOwain, Mohammed;
    • Morrison, Jennifer L.;
    • Wheeler, Patricia G.;
    • Webb, Bryn D.;
    • Alfalah, Abdullah;
    • Iacomino, Michele;
    • Uva, Paolo;
    • Coppola, Antonietta;
    • Merla, Giuseppe;
    • Salpietro, Vincenzo Damiano;
    • Zara, Federico;
    • Striano, Pasquale;
    • Accogli, Andrea;
    • Arnesen, Thomas
    Publication type:
    Article