Works matching AU De Giorgis, Valentina

Results: 54
    1

    Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.

    Published in:
    Journal of Clinical Medicine, 2019, v. 8, n. 5, p. 750, doi. 10.3390/jcm8050750
    By:
    • Garau, Jessica;
    • Cavallera, Vanessa;
    • Valente, Marialuisa;
    • Tonduti, Davide;
    • Sproviero, Daisy;
    • Zucca, Susanna;
    • Battaglia, Domenica;
    • Battini, Roberta;
    • Bertini, Enrico;
    • Cappanera, Silvia;
    • Chiapparini, Luisa;
    • Crasà, Camilla;
    • Crichiutti, Giovanni;
    • Giustina, Elvio Dalla;
    • D'Arrigo, Stefano;
    • Giorgis, Valentina De;
    • Simone, Micaela De;
    • Galli, Jessica;
    • Piana, Roberta La;
    • Messana, Tullio
    Publication type:
    Article
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    Results From an Italian Expanded Access Program on Cannabidiol Treatment in Highly Refractory Dravet Syndrome and Lennox–Gastaut Syndrome.

    Published in:
    Frontiers in Neurology, 2021, v. 11, p. 1, doi. 10.3389/fneur.2021.673135
    By:
    • Iannone, Luigi Francesco;
    • Arena, Gabriele;
    • Battaglia, Domenica;
    • Bisulli, Francesca;
    • Bonanni, Paolo;
    • Boni, Antonella;
    • Canevini, Maria Paola;
    • Cantalupo, Gaetano;
    • Cesaroni, Elisabetta;
    • Contin, Manuela;
    • Coppola, Antonietta;
    • Cordelli, Duccio Maria;
    • Cricchiuti, Giovanni;
    • De Giorgis, Valentina;
    • De Leva, Maria Fulvia;
    • De Rinaldis, Marta;
    • d'Orsi, Giuseppe;
    • Elia, Maurizio;
    • Galimberti, Carlo Andrea;
    • Morano, Alessandra
    Publication type:
    Article
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    Cerebellar heterotopia in an 11‐year‐old child with KDM6B‐related neurodevelopmental disorder: A case report and review of the literature.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63555
    By:
    • Politano, Davide;
    • D'Abrusco, Fulvio;
    • Pasca, Ludovica;
    • Ferraro, Francesca;
    • Gana, Simone;
    • Garau, Jessica;
    • Zanaboni, Martina Paola;
    • Rognone, Elisa;
    • Pichiecchio, Anna;
    • Borgatti, Renato;
    • Valente, Enza Maria;
    • De Giorgis, Valentina;
    • Romaniello, Romina
    Publication type:
    Article
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    Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 3, p. 354, doi. 10.1038/ejhg.2014.92
    By:
    • Mina, Erika Della;
    • Ciccone, Roberto;
    • Brustia, Francesca;
    • Bayindir, Baran;
    • Limongelli, Ivan;
    • Vetro, Annalisa;
    • Iascone, Maria;
    • Pezzoli, Laura;
    • Bellazzi, Riccardo;
    • Perotti, Gianfranco;
    • De Giorgis, Valentina;
    • Lunghi, Simona;
    • Coppola, Giangennaro;
    • Orcesi, Simona;
    • Merli, Pietro;
    • Savasta, Salvatore;
    • Veggiotti, Pierangelo;
    • Zuffardi, Orsetta
    Publication type:
    Article
    11

    GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02628-2
    By:
    • Varesio, Costanza;
    • De Giorgis, Valentina;
    • Veggiotti, Pierangelo;
    • Nardocci, Nardo;
    • Granata, Tiziana;
    • Ragona, Francesca;
    • Pasca, Ludovica;
    • Mensi, Martina Maria;
    • Borgatti, Renato;
    • Olivotto, Sara;
    • Previtali, Roberto;
    • Riva, Antonella;
    • Mancardi, Maria Margherita;
    • Striano, Pasquale;
    • Cavallin, Mara;
    • Guerrini, Renzo;
    • Operto, Francesca Felicia;
    • Pizzolato, Alice;
    • Di Maulo, Ruggero;
    • Martino, Fabiola
    Publication type:
    Article
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    Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.

    Published in:
    International Journal of Molecular Sciences, 2024, v. 25, n. 2, p. 1248, doi. 10.3390/ijms25021248
    By:
    • Cavirani, Benedetta;
    • Spagnoli, Carlotta;
    • Caraffi, Stefano Giuseppe;
    • Cavalli, Anna;
    • Cesaroni, Carlo Alberto;
    • Cutillo, Gianni;
    • De Giorgis, Valentina;
    • Frattini, Daniele;
    • Marchetti, Giulia Bruna;
    • Masnada, Silvia;
    • Peron, Angela;
    • Rizzi, Susanna;
    • Varesio, Costanza;
    • Spaccini, Luigina;
    • Vignoli, Aglaia;
    • Canevini, Maria Paola;
    • Veggiotti, Pierangelo;
    • Garavelli, Livia;
    • Fusco, Carlo
    Publication type:
    Article
    14

    WISC‐IV intellectual profiles in Italian children with self‐limited epilepsy with centrotemporal spikes.

    Published in:
    Epileptic Disorders, 2023, v. 25, n. 2, p. 160, doi. 10.1002/epd2.20003
    By:
    • Zanaboni, Martina Paola;
    • Pasca, Ludovica;
    • Bova, Stefania Maria;
    • Chiappedi, Matteo Alessio;
    • Filippini, Melissa;
    • Giordano, Lucio;
    • Grumi, Serena;
    • Micheletti, Serena;
    • Operto, Francesca F.;
    • Pruna, Dario;
    • Ragona, Francesca;
    • Raviglione, Federico;
    • Totaro, Martina;
    • Varesio, Costanza;
    • Vignoli, Aglaia;
    • De Giorgis, Valentina
    Publication type:
    Article
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    Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.

    Published in:
    PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0184022
    By:
    • Cappuccio, Gerarda;
    • Pinelli, Michele;
    • Alagia, Marianna;
    • Donti, Taraka;
    • Day-Salvatore, Debra-Lynn;
    • Veggiotti, Pierangelo;
    • De Giorgis, Valentina;
    • Lunghi, Simona;
    • Vari, Maria Stella;
    • Striano, Pasquale;
    • Brunetti-Pierri, Nicola;
    • Kennedy, Adam D.;
    • Elsea, Sarah H.
    Publication type:
    Article
    17

    3279 First in Man.

    Published in:
    2019
    By:
    • Adang, Laura;
    • Gavazzi, Francesco;
    • Giorgis, Valentina De;
    • Simone, Micaela De;
    • Fazzi, Elisa;
    • Galli, Jessica;
    • Koh, Jamie;
    • Kramer-Golinkoff, Julia;
    • Orcesi, Simona;
    • Peer, Kyle;
    • Ulrick, Nicole
    Publication type:
    Abstract
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    Neuroradiologic, Clinical, and Genetic Characterization of Cerebellar Heterotopia: A Pediatric Multicentric Study.

    Published in:
    American Journal of Neuroradiology, 2025, v. 46, n. 1, p. 170, doi. 10.3174/ajnr.A8450
    By:
    • Pasca, Ludovica;
    • Arrigoni, Filippo;
    • Romaniello, Romina;
    • Severino, Maria Savina;
    • Politano, Davide;
    • D'Abrusco, Fulvio;
    • Garau, Jessica;
    • De Giorgis, Valentina;
    • Carpani, Adriana;
    • Signorini, Sabrina;
    • Orcesi, Simona;
    • D'Arco, Felice;
    • Alfei, Enrico;
    • Cattaneo, Elisa;
    • Rognone, Elisa;
    • Uccella, Sara;
    • Divizia, Maria Teresa;
    • Infantino, Paolo;
    • Valente, Enza Maria;
    • Borgatti, Renato
    Publication type:
    Article
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    Characterization of Speech and Language Phenotype in GLUT1DS.

    Published in:
    Children, 2021, v. 8, n. 5, p. 1, doi. 10.3390/children8050344
    By:
    • Zanaboni, Martina Paola;
    • Pasca, Ludovica;
    • Valeria Villa, Barbara;
    • Faggio, Antonella;
    • Grumi, Serena;
    • Provenzi, Livio;
    • Varesio, Costanza;
    • De Giorgis, Valentina
    Publication type:
    Article
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    Ketogenic dietary therapies in epilepsy: recommendations of the Italian League against Epilepsy Dietary Therapy Study Group.

    Published in:
    Frontiers in Neurology, 2023, p. 01, doi. 10.3389/fneur.2023.1215618
    By:
    • De Giorgis, Valentina;
    • Tagliabue, Anna;
    • Bisulli, Francesca;
    • Brambilla, Ilaria;
    • Camerini, Alessandra;
    • Cusmai, Raffaella;
    • Darra, Francesca;
    • Dianin, Alice;
    • Domenica, Elia;
    • Lodi, Monica Anna Maria;
    • Matricardi, Sara;
    • Messana, Tullio;
    • Operto, Francesca;
    • Ragona, Francesca;
    • Russo, Emilio;
    • Varesio, Costanza;
    • Volpi, Lilia;
    • Zanaboni, Martina Paola;
    • Pasca, Ludovica;
    • Veggiotti, Pierangelo
    Publication type:
    Article
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    Long-Term Effects of a Classic Ketogenic Diet on Ghrelin and Leptin Concentration: A 12-Month Prospective Study in a Cohort of Italian Children and Adults with GLUT1-Deficiency Syndrome and Drug Resistant Epilepsy.

    Published in:
    Nutrients, 2019, v. 11, n. 8, p. 1716, doi. 10.3390/nu11081716
    By:
    • De Amicis, Ramona;
    • Leone, Alessandro;
    • Lessa, Chiara;
    • Foppiani, Andrea;
    • Ravella, Simone;
    • Ravasenghi, Stefano;
    • Trentani, Claudia;
    • Ferraris, Cinzia;
    • Veggiotti, Pierangelo;
    • De Giorgis, Valentina;
    • Tagliabue, Anna;
    • Battezzati, Alberto;
    • Bertoli, Simona
    Publication type:
    Article
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    Unraveling unmet needs in ketogenic dietary services: An ERN EpiCARE survey.

    Published in:
    Epilepsia Open, 2024, v. 9, n. 4, p. 1582, doi. 10.1002/epi4.12968
    By:
    • De Giorgis, Valentina;
    • Pasca, Ludovica;
    • Aznar‐Lain, Gemma;
    • Bibic, Irena;
    • Bibic, Vedrana;
    • Darra, Francesca;
    • Dianin, Alice;
    • Dressler, Anastasia;
    • Jonsson, Henna;
    • Komulainen‐Ebrahim, Jonna;
    • Kverneland, Magnhild;
    • Molteberg, Ellen;
    • Ragona, Francesca;
    • de Saint‐Martin, Anne;
    • Varesio, Costanza;
    • Cross, J. Helen;
    • Baumgartner, Tobias;
    • Bjellvi, Johan;
    • Brunklaus, Andreas;
    • Buttle, Janette
    Publication type:
    Article
    35

    A real‐life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy.

    Published in:
    Epilepsia Open, 2023, v. 8, n. 3, p. 1142, doi. 10.1002/epi4.12717
    By:
    • Riva, Antonella;
    • Roberti, Roberta;
    • D'Onofrio, Gianluca;
    • Vari, Maria Stella;
    • Amadori, Elisabetta;
    • De Giorgis, Valentina;
    • Cerminara, Caterina;
    • Specchio, Nicola;
    • Pietrafusa, Nicola;
    • Tombini, Mario;
    • Assenza, Giovanni;
    • Cappanera, Silvia;
    • Marini, Carla;
    • Rasmini, Paolo;
    • Veggiotti, Pierangelo;
    • Zara, Federico;
    • Russo, Emilio;
    • Striano, Pasquale
    Publication type:
    Article
    36

    Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group.

    Published in:
    Epilepsia Open, 2020, v. 5, n. 3, p. 354, doi. 10.1002/epi4.12414
    By:
    • Klepper, Joerg;
    • Akman, Cigdem;
    • Armeno, Marisa;
    • Auvin, Stéphane;
    • Cervenka, Mackenzie;
    • Cross, Helen J.;
    • De Giorgis, Valentina;
    • Della Marina, Adela;
    • Engelstad, Kristin;
    • Heussinger, Nicole;
    • Kossoff, Eric H.;
    • Leen, Wilhelmina G.;
    • Leiendecker, Baerbel;
    • Monani, Umrao R.;
    • Oguni, Hirokazu;
    • Neal, Elizabeth;
    • Pascual, Juan M.;
    • Pearson, Toni S.;
    • Pons, Roser;
    • Scheffer, Ingrid E.
    Publication type:
    Article
    37

    The effects of ketogenic dietary therapies on sleep: A scoping review.

    Published in:
    Journal of Sleep Research, 2024, v. 33, n. 4, p. 1, doi. 10.1111/jsr.14073
    By:
    • Pasca, Ludovica;
    • Quaranta, Carlo Alberto;
    • Grumi, Serena;
    • Zanaboni, Martina Paola;
    • Tagliabue, Anna;
    • Guglielmetti, Monica;
    • Vitali, Helene;
    • Capriglia, Elena;
    • Varesio, Costanza;
    • Toni, Federico;
    • Nobili, Lino;
    • Terzaghi, Michele;
    • De Giorgis, Valentina
    Publication type:
    Article
    38

    On-Line Solid Phase Extraction High Performance Liquid Chromatography Method Coupled With Tandem Mass Spectrometry for the Therapeutic Monitoring of Cannabidiol and 7-Hydroxy-cannabidiol in Human Serum and Saliva.

    Published in:
    Frontiers in Pharmacology, 2022, v. 13, p. 1, doi. 10.3389/fphar.2022.915004
    By:
    • Franco, Valentina;
    • Palmisani, Michela;
    • Marchiselli, Roberto;
    • Crema, Francesca;
    • Fattore, Cinzia;
    • De Giorgis, Valentina;
    • Varesio, Costanza;
    • Rota, Paola;
    • Dibari, Vincenza Flora;
    • Perucca, Emilio
    Publication type:
    Article
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    Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy.

    Published in:
    Diagnostics (2075-4418), 2021, v. 11, n. 6, p. 948, doi. 10.3390/diagnostics11060948
    By:
    • Varesio, Costanza;
    • Gana, Simone;
    • Asaro, Alessia;
    • Ballante, Elena;
    • Cabini, Raffaella Fiamma;
    • Tartara, Elena;
    • Bagnaschi, Michela;
    • Pasca, Ludovica;
    • Valente, Marialuisa;
    • Orcesi, Simona;
    • Cereda, Cristina;
    • Veggiotti, Pierangelo;
    • Borgatti, Renato;
    • Valente, Enza Maria;
    • De Giorgis, Valentina
    Publication type:
    Article
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    Overall cognitive profiles in patients with GLUT1 Deficiency Syndrome.

    Published in:
    Brain & Behavior, 2019, v. 9, n. 3, p. N.PAG, doi. 10.1002/brb3.1224
    By:
    • De Giorgis, Valentina;
    • Masnada, Silvia;
    • Varesio, Costanza;
    • Chiappedi, Matteo A.;
    • Zanaboni, Martina;
    • Pasca, Ludovica;
    • Filippini, Melissa;
    • Macasaet, Joyce A.;
    • Valente, Marialuisa;
    • Ferraris, Cinzia;
    • Tagliabue, Anna;
    • Veggiotti, Pierangelo
    Publication type:
    Article
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    Developmental Outcomes of Aicardi Goutières Syndrome.

    Published in:
    Journal of Child Neurology, 2020, v. 35, n. 1, p. 7, doi. 10.1177/0883073819870944
    By:
    • Adang, Laura;
    • Gavazzi, Francesco;
    • De Simone, Micaela;
    • Fazzi, Elisa;
    • Galli, Jessica;
    • Koh, Jamie;
    • Kramer-Golinkoff, Julia;
    • De Giorgis, Valentina;
    • Orcesi, Simona;
    • Peer, Kyle;
    • Ulrick, Nicole;
    • Woidill, Sarah;
    • Shults, Justine;
    • Vanderver, Adeline
    Publication type:
    Article
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