Works by Striano, Pasquale

Results: 364
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    Lafora disease.

    Published in:
    Epileptic Disorders, 2016, v. 18, p. S38, doi. 10.1684/epd.2016.0842
    By:
    • Turnbull, Julie;
    • Tiberia, Erica;
    • Striano, Pasquale;
    • Genton, Pierre;
    • Carpenter, Stirling;
    • Ackerley, Cameron A.;
    • Minassian, Berge A.
    Publication type:
    Article
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    Temporal‐parietal‐occipital epilepsy in GEFS+ associated with SCN1A mutation.

    Published in:
    Epileptic Disorders, 2021, v. 23, n. 2, p. 397, doi. 10.1684/epd.2021.1266
    By:
    • Riva, Antonella;
    • Coppola, Antonietta;
    • Balagura, Ganna;
    • Scala, Marcello;
    • Iacomino, Michele;
    • Marchese, Francesca;
    • Amadori, Elisabetta;
    • Lattanzi, Simona;
    • Meo, Roberta;
    • Striano, Salvatore;
    • Salpietro, Vincenzo;
    • Zara, Federico;
    • Minetti, Carlo;
    • Striano, Pasquale;
    • Bilo, Leonilda
    Publication type:
    Article
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    Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.

    Published in:
    Human Mutation, 2023, p. 1, doi. 10.1155/2023/3160653
    By:
    • Chelleri, Cristina;
    • Scala, Marcello;
    • De Marco, Patrizia;
    • Guerriero, Vittorio;
    • Ognibene, Marzia;
    • Madia, Francesca;
    • Guerrisi, Sara;
    • Di Duca, Marco;
    • Torre, Michele;
    • Tamburro, Serena;
    • Scudieri, Paolo;
    • Piccolo, Gianluca;
    • Mattioli, Girolamo;
    • Buffelli, Francesca;
    • Uva, Paolo;
    • Vozzi, Diego;
    • Fulcheri, Ezio;
    • Striano, Pasquale;
    • Diana, Maria Cristina;
    • Zara, Federico
    Publication type:
    Article
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    The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria.

    Published in:
    Human Mutation, 2018, v. 39, n. 11, p. 1476, doi. 10.1002/humu.23632
    By:
    • Helbig, Ingo;
    • Riggs, Erin Rooney;
    • Barry, Carrie‐Anne;
    • Klein, Karl Martin;
    • Dyment, David;
    • Thaxton, Courtney;
    • Sadikovic, Bekim;
    • Sands, Tristan T.;
    • Wagnon, Jacy L.;
    • Liaquat, Khalida;
    • Cilio, Maria Roberta;
    • Mirzaa, Ghayda;
    • Park, Kristen;
    • Axeen, Erika;
    • Butler, Elizabeth;
    • Bardakjian, Tanya M.;
    • Striano, Pasquale;
    • Poduri, Annapurna;
    • Siegert, Rebecca K.;
    • Grant, Andrew R.
    Publication type:
    Article
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    Gain‐of‐function <italic>HCN2</italic> variants in genetic epilepsy.

    Published in:
    Human Mutation, 2018, v. 39, n. 2, p. 202, doi. 10.1002/humu.23357
    By:
    • Li, Melody;
    • Maljevic, Snezana;
    • Phillips, A. Marie;
    • Petrovski, Slave;
    • Hildebrand, Michael S.;
    • Burgess, Rosemary;
    • Mount, Therese;
    • Zara, Federico;
    • Striano, Pasquale;
    • Schubert, Julian;
    • Thiele, Holger;
    • Nürnberg, Peter;
    • Wong, Michael;
    • Weisenberg, Judith L.;
    • Thio, Liu Lin;
    • Lerche, Holger;
    • Scheffer, Ingrid E.;
    • Berkovic, Samuel F.;
    • Petrou, Steven;
    • Reid, Christopher A.
    Publication type:
    Article
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    Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series.

    Published in:
    International Journal of Legal Medicine, 2015, v. 129, n. 3, p. 495, doi. 10.1007/s00414-014-1063-4
    By:
    • Partemi, Sara;
    • Vidal, Monica;
    • Striano, Pasquale;
    • Campuzano, Oscar;
    • Allegue, Catarina;
    • Pezzella, Marianna;
    • Elia, Maurizio;
    • Parisi, Pasquale;
    • Belcastro, Vincenzo;
    • Casellato, Susanna;
    • Giordano, Lucio;
    • Mastrangelo, Massimo;
    • Pietrafusa, Nicola;
    • Striano, Salvatore;
    • Zara, Federico;
    • Bianchi, Amedeo;
    • Buti, Daniela;
    • Neve, Angela;
    • Tassinari, Carlo;
    • Oliva, Antonio
    Publication type:
    Article
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    Assessing the role of rare genetic variants in drug‐resistant, non‐lesional focal epilepsy.

    Published in:
    Annals of Clinical & Translational Neurology, 2021, v. 8, n. 7, p. 1376, doi. 10.1002/acn3.51374
    By:
    • Wolking, Stefan;
    • Moreau, Claudia;
    • McCormack, Mark;
    • Krause, Roland;
    • Krenn, Martin;
    • Berkovic, Samuel;
    • Cavalleri, Gianpiero L.;
    • Delanty, Norman;
    • Depondt, Chantal;
    • Johnson, Michael R.;
    • Koeleman, Bobby P. C.;
    • Kunz, Wolfram S.;
    • Lerche, Holger;
    • Marson, Anthony G.;
    • O'Brien, Terence J.;
    • Petrovski, Slave;
    • Sander, Josemir W.;
    • Sills, Graeme J.;
    • Striano, Pasquale;
    • Zara, Federico
    Publication type:
    Article
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    Trait impulsivity in Juvenile Myoclonic Epilepsy.

    Published in:
    Annals of Clinical & Translational Neurology, 2021, v. 8, n. 1, p. 138, doi. 10.1002/acn3.51255
    By:
    • Shakeshaft, Amy;
    • Panjwani, Naim;
    • McDowall, Robert;
    • Crudgington, Holly;
    • Peña Ceballos, Javier;
    • Andrade, Danielle M.;
    • Beier, Christoph P.;
    • Fong, Choong Yi;
    • Gesche, Joanna;
    • Greenberg, David A.;
    • Hamandi, Khalid;
    • Koht, Jeanette;
    • Lim, Kheng Seang;
    • Orsini, Alessandro;
    • Rees, Mark I.;
    • Rubboli, Guido;
    • Selmer, Kaja K.;
    • Smith, Anna B.;
    • Striano, Pasquale;
    • Syvertsen, Marte
    Publication type:
    Article
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    Cannabidiol Treatment for Refractory Epilepsies in Pediatrics.

    Published in:
    Frontiers in Pharmacology, 2020, v. 11, p. N.PAG, doi. 10.3389/fphar.2020.586110
    By:
    • Raucci, Umberto;
    • Pietrafusa, Nicola;
    • Paolino, Maria Chiara;
    • Di Nardo, Giovanni;
    • Villa, Maria Pia;
    • Pavone, Piero;
    • Terrin, Gianluca;
    • Specchio, Nicola;
    • Striano, Pasquale;
    • Parisi, Pasquale
    Publication type:
    Article
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    Pediatric hypnic headache: a systematic review.

    Published in:
    Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1254567
    By:
    • Ferretti, Alessandro;
    • Velardi, Margherita;
    • Fanfoni, Claudia;
    • Di Nardo, Giovanni;
    • Evangelisti, Melania;
    • Foiadelli, Thomas;
    • Orsini, Alessandro;
    • Del Pozzo, Marco;
    • Terrin, Gianluca;
    • Raucci, Umberto;
    • Striano, Pasquale;
    • Parisi, Pasquale
    Publication type:
    Article
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    NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron.

    Published in:
    Genes, 2023, v. 14, n. 12, p. 2143, doi. 10.3390/genes14122143
    By:
    • Gambadauro, Antonella;
    • Mangano, Giuseppe Donato;
    • Galletta, Karol;
    • Granata, Francesca;
    • Riva, Antonella;
    • Massella, Laura;
    • Guzzo, Isabella;
    • Farello, Giovanni;
    • Scorrano, Giovanna;
    • Di Francesco, Ludovica;
    • Di Donato, Giulio;
    • Ianni, Carolina;
    • Di Ludovico, Armando;
    • La Bella, Saverio;
    • Striano, Pasquale;
    • Efthymiou, Stephanie;
    • Houlden, Henry;
    • Nardello, Rosaria;
    • Chimenz, Roberto
    Publication type:
    Article
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    Early Extra-Uterine Growth Restriction in Very-Low-Birth-Weight Neonates with Normal or Mildly Abnormal Brain MRI: Effects on a 2–3-Year Neurodevelopmental Outcome.

    Published in:
    Nutrients, 2024, v. 16, n. 3, p. 449, doi. 10.3390/nu16030449
    By:
    • Massirio, Paolo;
    • Battaglini, Marcella;
    • Bonato, Irene;
    • De Crescenzo, Sara;
    • Calevo, Maria Grazia;
    • Malova, Mariya;
    • Caruggi, Samuele;
    • Parodi, Alessandro;
    • Preiti, Deborah;
    • Zoia, Agata;
    • Uccella, Sara;
    • Tortora, Domenico;
    • Severino, Mariasavina;
    • Rossi, Andrea;
    • Traggiai, Cristina;
    • Nobili, Lino;
    • Striano, Pasquale;
    • Ramenghi, Luca Antonio
    Publication type:
    Article
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    A 3-YEAR-OLD BOY WITH DRUG-RESISTANT COMPLEX PARTIAL SEIZURES.

    Published in:
    Brain Pathology, 2012, v. 22, n. 5, p. 725, doi. 10.1111/j.1750-3639.2012.00619.x
    By:
    • Striano, Pasquale;
    • Consales, Alessandro;
    • Severino, Mariasavina;
    • Prato, Giulia;
    • Occella, Corrado;
    • Rossi, Andrea;
    • Cama, Armando;
    • Nozza, Paolo;
    • Baglietto, Maria Giuseppina
    Publication type:
    Article
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    Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.

    Published in:
    Nature Genetics, 2015, v. 47, n. 6, p. 579, doi. 10.1038/ng.3289
    By:
    • Legati, Andrea;
    • Sears, Renee L;
    • Ramos, Eliana Marisa;
    • Lang, Anthony E;
    • Miedzybrodzka, Zosia;
    • Simpson, Sheila A;
    • Paucar, Martin;
    • Svenningsson, Per;
    • Paulson, Henry;
    • Pariente, Jérémie;
    • Richard, Anne-Claire;
    • Salins, Naomi S;
    • Striano, Pasquale;
    • Unni, Vivek K;
    • Vanakker, Olivier;
    • Giovannini, Donatella;
    • López-Sánchez, Uriel;
    • Sitbon, Marc;
    • Battini, Jean-Luc;
    • Wessels, Marja W
    Publication type:
    Article
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    De novo mutations in HCN1 cause early infantile epileptic encephalopathy.

    Published in:
    Nature Genetics, 2014, v. 46, n. 6, p. 640, doi. 10.1038/ng.2952
    By:
    • Nava, Caroline;
    • Dalle, Carine;
    • Rastetter, Agnès;
    • Striano, Pasquale;
    • de Kovel, Carolien G F;
    • Nabbout, Rima;
    • Cancès, Claude;
    • Ville, Dorothée;
    • Brilstra, Eva H;
    • Gobbi, Giuseppe;
    • Raffo, Emmanuel;
    • Bouteiller, Delphine;
    • Marie, Yannick;
    • Trouillard, Oriane;
    • Robbiano, Angela;
    • Keren, Boris;
    • Agher, Dahbia;
    • Roze, Emmanuel;
    • Lesage, Suzanne;
    • Nicolas, Aude
    Publication type:
    Article
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    Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.

    Published in:
    Journal of Neurology, 2005, v. 252, n. 8, p. 897, doi. 10.1007/s00415-005-0766-3
    By:
    • Coppola, Giovanni;
    • Criscuolo, Chiara;
    • de Michele, Giuseppe;
    • Striano, Salvatore;
    • Barbieri, Fabrizio;
    • Striano, Pasquale;
    • Perretti, Anna;
    • Santoro, Lucio;
    • Morra, Vincenzo Brescia;
    • Saccà, Francesco;
    • Scarano, Valentina;
    • D'Adamo, Adamo P.;
    • Banfi, Sandro;
    • Gasparini, Paolo;
    • Santorelli, Filippo M.;
    • Lehesjoki, Anna E.;
    • Filla, Alessandro
    Publication type:
    Article
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