Works matching AU Severino, Mariasavina

Results: 123
    1

    Analysis of NADP+-dependent isocitrate dehydrogenase-1/2 gene mutations in pediatric brain tumors: report of a secondary anaplastic astrocytoma carrying the IDH1 mutation.

    Published in:
    Journal of Neuro-Oncology, 2012, v. 109, n. 3, p. 477, doi. 10.1007/s11060-012-0925-1
    By:
    • Mascelli, Samantha;
    • Raso, Alessandro;
    • Biassoni, Roberto;
    • Severino, Mariasavina;
    • Sak, Katrin;
    • Joost, Kairit;
    • Milanaccio, Claudia;
    • Barra, Salvina;
    • Grillo-Ruggieri, Filippo;
    • Vanni, Irene;
    • Consales, Alessandro;
    • Cama, Armando;
    • Capra, Valeria;
    • Nozza, Paolo;
    • Garrè, Maria
    Publication type:
    Article
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    Imaging characteristics and neurosurgical outcome in subjects with agenesis of the corpus callosum and interhemispheric cysts.

    Published in:
    Neuroradiology, 2022, v. 64, n. 11, p. 2163, doi. 10.1007/s00234-022-02990-1
    By:
    • Severino, Mariasavina;
    • Tortora, Domenico;
    • Reid, Catriona;
    • Uccella, Sara;
    • Nobili, Lino;
    • Accogli, Andrea;
    • Srour, Myriam;
    • Ramaglia, Antonia;
    • Sudhakar, Sniya;
    • Consales, Alessandro;
    • Pavanello, Marco;
    • Piatelli, Gianluca;
    • James, Greg;
    • Ravegnani, Marcello;
    • Rossi, Andrea;
    • Mankad, Kshitij
    Publication type:
    Article
    5

    Spinal involvement in pediatric familial cavernous malformation syndrome.

    Published in:
    Neuroradiology, 2022, v. 64, n. 8, p. 1671, doi. 10.1007/s00234-022-02958-1
    By:
    • Geraldo, Ana Filipa;
    • Luis, Aysha;
    • Alves, Cesar Augusto P. F.;
    • Tortora, Domenico;
    • Guimarães, Joana;
    • Reimão, Sofia;
    • Pavanello, Marco;
    • de Marco, Patrizia;
    • Scala, Marcello;
    • Capra, Valeria;
    • Rossi, Andrea;
    • Schwartz, Erin Simon;
    • Mankad, Kshitij;
    • Severino, Mariasavina
    Publication type:
    Article
    6

    Guidelines for magnetic resonance imaging in pediatric head and neck pathologies: a multicentre international consensus paper.

    Published in:
    Neuroradiology, 2022, v. 64, n. 6, p. 1081, doi. 10.1007/s00234-022-02950-9
    By:
    • D'Arco, Felice;
    • Mertiri, Livja;
    • de Graaf, Pim;
    • De Foer, Bert;
    • Popovič, Katarina S.;
    • Argyropoulou, Maria I.;
    • Mankad, Kshitij;
    • Brisse, Hervé J.;
    • Juliano, Amy;
    • Severino, Mariasavina;
    • Van Cauter, Sofie;
    • Ho, Mai-Lan;
    • Robson, Caroline D.;
    • Siddiqui, Ata;
    • Connor, Steve;
    • Bisdas, Sotirios;
    • on behalf of the Consensus for Magnetic Resonance Protocols Study (COMPS) Group;
    • Bozzao, Alessandro;
    • Sedlacik, Jan;
    • Espagnet, Camilla Rossi
    Publication type:
    Article
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    Congenital tumors of the central nervous system.

    Published in:
    Neuroradiology, 2010, v. 52, n. 6, p. 531, doi. 10.1007/s00234-010-0699-0
    By:
    • Severino, Mariasavina;
    • Schwartz, Erin;
    • Thurnher, Majda;
    • Rydland, Jana;
    • Nikas, Ioannis;
    • Rossi, Andrea
    Publication type:
    Article
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    Complete agenesis of corpus callosum and unilateral cortical formation anomalies detected on fetal MR imaging: a phenotype strongly associated with the male fetuses.

    Published in:
    European Radiology, 2023, v. 33, n. 3, p. 2258, doi. 10.1007/s00330-022-09173-9
    By:
    • Vola, Elena A.;
    • Griffiths, Paul D.;
    • Parazzini, Cecilia;
    • Palumbo, Giovanni;
    • Scola, Elisa;
    • Severino, Mariasavina;
    • Pinelli, Lorenzo;
    • D'Errico, Ignazio;
    • Di Maurizio, Marco;
    • Pecco, Nicolò;
    • Rossi, Andrea;
    • Triulzi, Fabio;
    • Righini, Andrea
    Publication type:
    Article
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    Cortical formation abnormalities on foetal MR imaging: a proposed classification system trialled on 356 cases from Italian and UK centres.

    Published in:
    European Radiology, 2020, v. 30, n. 10, p. 5250, doi. 10.1007/s00330-020-06899-2
    By:
    • Righini, Andrea;
    • Genovese, Maurilio;
    • Parazzini, Cecilia;
    • Severino, Mariasavina;
    • Scola, Elisa;
    • Pinelli, Lorenzo;
    • Conte, Giorgio;
    • Derrico, Ignazio;
    • Di Maurizio, Marco;
    • Talenti, Giacomo;
    • Mandefield, Laura;
    • Jarvis, Deborah;
    • Palumbo, Giovanni;
    • Guerrini, Renzo;
    • Rossi, Andrea;
    • Triulzi, Fabio;
    • Griffiths, Paul D.
    Publication type:
    Article
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    Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development.

    Published in:
    Cerebellum, 2023, v. 22, n. 2, p. 206, doi. 10.1007/s12311-022-01379-3
    By:
    • Accogli, Andrea;
    • Lu, Shenzhao;
    • Musante, Ilaria;
    • Scudieri, Paolo;
    • Rosenfeld, Jill A.;
    • Severino, Mariasavina;
    • Baldassari, Simona;
    • Iacomino, Michele;
    • Riva, Antonella;
    • Balagura, Ganna;
    • Piccolo, Gianluca;
    • Minetti, Carlo;
    • Roberto, Denis;
    • Xia, Fan;
    • Razak, Razaali;
    • Lawrence, Emily;
    • Hussein, Mohamed;
    • Chang, Emmanuel Yih-Herng;
    • Holick, Michelle;
    • Calì, Elisa
    Publication type:
    Article
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    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
    31

    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
    32

    Influence of isolated low‐grade intracranial haemorrhages on the neurodevelopmental outcome of infants born very low birthweight.

    Published in:
    Developmental Medicine & Child Neurology, 2023, v. 65, n. 10, p. 1366, doi. 10.1111/dmcn.15559
    By:
    • Uccella, Sara;
    • Parodi, Alessandro;
    • Calevo, Maria Grazia;
    • Nobili, Lino;
    • Tortora, Domenico;
    • Severino, Mariasavina;
    • Andreato, Chiara;
    • Preiti, Deborah;
    • Traggiai, Cristina;
    • Massirio, Paolo;
    • Zoia, Agata;
    • Govaert, Paul;
    • Minghetti, Diego;
    • Tacchino, Chiara;
    • Brigati, Giorgia;
    • Moretti, Paolo;
    • De Grandis, Elisa;
    • Siri, Laura;
    • Caruggi, Samuele;
    • Marcella, Battaglini
    Publication type:
    Article
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    Adenosine Blood Level: A Biomarker of White Matter Damage in Very Low Birth Weight Infants.

    Published in:
    Current Pediatric Reviews, 2022, v. 18, n. 2, p. 153
    By:
    • Colella, Marina;
    • Panfoli, Isabella;
    • Doglio, Matteo;
    • Cassanello, Michela;
    • Bruschi, Maurizio;
    • De Angelis, Laura C.;
    • Candiano, Giovanni;
    • Parodi, Alessandro;
    • Malova, Mariya;
    • Petretto, Andrea;
    • Morana, Giovanni;
    • Tortora, Domenico;
    • Severino, Mariasavina;
    • Maghnie, Mohamad;
    • Buonocore, Giuseppe;
    • Rossi, Andrea;
    • Baud, Oliver;
    • Ramenghi, Luca A.
    Publication type:
    Article
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    Novel KIF26A variants associated with pediatric intestinal pseudo‐obstruction (PIPO) and brain developmental defects.

    Published in:
    Clinical Genetics, 2025, v. 107, n. 1, p. 83, doi. 10.1111/cge.14621
    By:
    • Nosrati, Mohammad Sadegh Shams;
    • Doustmohammadi, Alireza;
    • Severino, Mariasavina;
    • Romano, Ferruccio;
    • Zafari, Mahdi;
    • Nemati, Amir Hesam;
    • Velmans, Clara;
    • Netzer, Christian;
    • Breuer, Jonas;
    • Broekaert, Ilse Julia;
    • Joachim, Alexander;
    • Almasri, Nihad;
    • Kruer, Michael C.;
    • Skidmore, Peter;
    • Bisarad, Pritha;
    • Hoque, Jumana;
    • Bakhtiari, Somayeh;
    • Torella, Annalaura;
    • Nigro, Vincenzo;
    • Buffelli, Francesca
    Publication type:
    Article
    41

    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
    42

    Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI‐anchored proteins.

    Published in:
    Clinical Genetics, 2021, v. 100, n. 5, p. 607, doi. 10.1111/cge.14033
    By:
    • Salian, Smrithi;
    • Scala, Marcello;
    • Nguyen, Thi Tuyet Mai;
    • Severino, Mariasavina;
    • Accogli, Andrea;
    • Amadori, Elisabetta;
    • Torella, Annalaura;
    • Pinelli, Michele;
    • Hudson, Beth;
    • Boothe, Megan;
    • Hurst, Anna;
    • Ben‐Omran, Tawfeg;
    • Larsen, Martin J.;
    • Fagerberg, Christina R.;
    • Sperling, Lene;
    • Miceikaite, Ieva;
    • Herissant, Lucas;
    • Doco‐Fenzy, Martine;
    • Jennesson, Mélanie;
    • Nigro, Vincenzo
    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
    48

    Diffuse Leptomeningeal Glioneuronal Tumors: A New Entity?

    Published in:
    Brain Pathology, 2010, v. 20, n. 2, p. 361, doi. 10.1111/j.1750-3639.2009.00285.x
    By:
    • Gardiman, Marina Paola;
    • Fassan, Matteo;
    • Orvieto, Enrico;
    • D'Avella, Domenico;
    • Denaro, Luca;
    • Calderone, Milena;
    • Severino, Mariasavina;
    • Scarsello, Giovanni;
    • Viscardi, Elisabetta;
    • Perilongo, Giorgio
    Publication type:
    Article
    49

    AUTHOR'S RESPONSE.

    Published in:
    2009
    By:
    • Gardiman, Marina Paola;
    • Fassan, Matteo;
    • Orvieto, Enrico;
    • D'Avella, Domenico;
    • Denaro, Luca;
    • Calderone, Milena;
    • Severino, Mariasavina;
    • Scarsello, Giovanni;
    • Viscardi, Elisabetta;
    • Perilongo, Giorgio
    Publication type:
    Letter
    50

    Recommendations for neuroradiological examinations in children living with achondroplasia: a European Society of Pediatric Radiology and European Society of Neuroradiology opinion paper.

    Published in:
    Pediatric Radiology, 2023, v. 53, n. 12, p. 2323, doi. 10.1007/s00247-023-05728-0
    By:
    • Wright, Jenny;
    • Cheung, Moira;
    • Siddiqui, Ata;
    • Lucas, Jonathan;
    • Calder, Alistair;
    • Argyropoulou, Maria I.;
    • Arthurs, Owen J.;
    • Caro-Dominguez, Pablo;
    • Thompson, Dominic;
    • Severino, Mariasavina;
    • D'Arco, Felice;
    • Rossi, Andrea;
    • Adamsbaum, Catherine;
    • Xydis, Vasileios;
    • Connolly, Daniel;
    • Lequin, Maarten Hans;
    • Dangouloff-Ros, Volodia;
    • Porto, Luciana;
    • Piccirilli, Eleonora;
    • Chateil, Jean-François
    Publication type:
    Article