Works by Severino, Mariasavina

Results: 123
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    Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy.

    Published in:
    Human Mutation, 2020, v. 41, n. 7, p. 1263, doi. 10.1002/humu.24015
    By:
    • Carvill, Gemma L.;
    • Helbig, Katherine L.;
    • Myers, Candace T.;
    • Scala, Marcello;
    • Huether, Robert;
    • Lewis, Sara;
    • Kruer, Tyler N.;
    • Guida, Brandon S.;
    • Bakhtiari, Somayeh;
    • Sebe, Joy;
    • Tang, Sha;
    • Stickney, Heather;
    • Oktay, Sehribani Ulusoy;
    • Bhandiwad, Ashwin A.;
    • Ramsey, Keri;
    • Narayanan, Vinodh;
    • Feyma, Timothy;
    • Rohena, Luis O.;
    • Accogli, Andrea;
    • Severino, Mariasavina
    Publication type:
    Article
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    Progression of non‐hematologic manifestations in SAMD9L‐associated autoinflammatory disease (SAAD) after hematopoietic stem cell transplantation.

    Published in:
    Pediatric Allergy & Immunology, 2022, v. 33, n. 1, p. 1, doi. 10.1111/pai.13711
    By:
    • Papa, Riccardo;
    • Rusmini, Marta;
    • Volpi, Stefano;
    • Dell'Orso, Gianluca;
    • Giarratana, Maria Carla;
    • Caorsi, Roberta;
    • Giardino, Stefano;
    • Bocca, Paola;
    • Barone, Patrizia;
    • Severino, Mariasavina;
    • Ceccherini, Isabella;
    • Gattorno, Marco;
    • Faraci, Maura;
    • Riggioni, Carmen
    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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    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
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    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
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    Pituitary Gland Duplication Syndrome: An International Imaging Analysis.

    Published in:
    American Journal of Neuroradiology, 2025, v. 46, n. 4, p. 808, doi. 10.3174/ajnr.A8534
    By:
    • Löbel, Ulrike;
    • Catala, Martin;
    • D'Arco, Felice;
    • Lequin, Maarten H.;
    • Pasquariello, Rosa;
    • Ilves, Pilvi;
    • Loorits, Dagmar;
    • Tähepõld, Annika;
    • Pezzetti, Giulio;
    • Craven, Ian;
    • Severino, Mariasavina;
    • Rossi, Andrea
    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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    Incomplete partition type II in its various manifestations: isolated, in association with EVA, syndromic, and beyond; a multicentre international study.

    Published in:
    Neuroradiology, 2024, v. 66, n. 8, p. 1397, doi. 10.1007/s00234-024-03386-z
    By:
    • D'Arco, Felice;
    • Kandemirli, Sedat G.;
    • Dahmoush, Hisham M.;
    • Alves, Cesar A. P. F.;
    • Severino, Mariasavina;
    • Dellepiane, Francesco;
    • Robson, Caroline D.;
    • Lequin, Maarten H.;
    • Rossi-Espagnet, Camilla;
    • O'Brien, William T.;
    • Nash, Robert;
    • Clement, Emma;
    • Juliano, Amy F.
    Publication type:
    Article
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    Vein of Galen aneurysmal malformation: does size affect outcome?

    Published in:
    Neuroradiology, 2024, v. 66, n. 6, p. 1031, doi. 10.1007/s00234-024-03347-6
    By:
    • Parodi, Costanza;
    • Aluffi Valletti, Margherita;
    • Tortora, Domenico;
    • Buratti, Silvia;
    • Mallamaci, Marisa;
    • Tuo, Giulia;
    • Pistorio, Angela;
    • Moscatelli, Andrea;
    • Rossi, Andrea;
    • Severino, Mariasavina
    Publication type:
    Article
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    Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course.

    Published in:
    Brain Communications, 2021, v. 3, n. 3, p. 1, doi. 10.1093/braincomms/fcab183
    By:
    • Maroofian, Reza;
    • Gubas, Andrea;
    • Kaiyrzhanov, Rauan;
    • Scala, Marcello;
    • Hundallah, Khalid;
    • Severino, Mariasavina;
    • Abdel-Hamid, Mohamed S.;
    • Rosenfeld, Jill A.;
    • Ebrahimi-Fakhari, Darius;
    • Ali, Zahir;
    • Rahim, Fazal;
    • Houlden, Henry;
    • Tooze, Sharon A.;
    • Alsaleh, Norah S.;
    • Zaki, Maha S.
    Publication type:
    Article
    29

    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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    Neonatal Perforator Stroke: Timing, Risk Factors, and Neurological Outcome from a Single-Center Experience.

    Published in:
    Neurology International, 2025, v. 17, n. 4, p. 59, doi. 10.3390/neurolint17040059
    By:
    • Calandrino, Andrea;
    • Cipresso, Gaia;
    • Battaglini, Marcella;
    • Caruggi, Samuele;
    • Bonato, Irene;
    • Massirio, Paolo;
    • Andreato, Chiara;
    • Vinci, Francesco;
    • Parodi, Alessandro;
    • Malova, Mariya;
    • Bertamino, Marta;
    • Amadori, Elisabetta;
    • Severino, Mariasavina;
    • Resaz, Martina;
    • Rossi, Andrea;
    • Striano, Pasquale;
    • Ramenghi, Luca Antonio
    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
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    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
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    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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    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
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    Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1822, doi. 10.1093/brain/awae010
    By:
    • Efthymiou, Stephanie;
    • Scala, Marcello;
    • Nagaraj, Vini;
    • Ochenkowska, Katarzyna;
    • Komdeur, Fenne L;
    • Liang, Robin A;
    • Abdel-Hamid, Mohamed S;
    • Sultan, Tipu;
    • Barøy, Tuva;
    • Ghelue, Marijke Van;
    • Vona, Barbara;
    • Maroofian, Reza;
    • Zafar, Faisal;
    • Alkuraya, Fowzan S;
    • Zaki, Maha S;
    • Severino, Mariasavina;
    • Duru, Kingsley C;
    • Tryon, Robert C;
    • Brauteset, Lin Vigdis;
    • Ansari, Morad
    Publication type:
    Article
    40

    Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1751, doi. 10.1093/brain/awad427
    By:
    • Pace, Raffaella De;
    • Maroofian, Reza;
    • Paimboeuf, Adeline;
    • Zamani, Mina;
    • Zaki, Maha S;
    • Sadeghian, Saeid;
    • Azizimalamiri, Reza;
    • Galehdari, Hamid;
    • Zeighami, Jawaher;
    • Williamson, Chad D;
    • Fleming, Emily;
    • Zhou, Dihong;
    • Gannon, Jennifer L;
    • Thiffault, Isabelle;
    • Roze, Emmanuel;
    • Suri, Mohnish;
    • Zifarelli, Giovanni;
    • Bauer, Peter;
    • Houlden, Henry;
    • Severino, Mariasavina
    Publication type:
    Article
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    Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.

    Published in:
    2019
    By:
    • Mori, Roberta De;
    • Severino, Mariasavina;
    • Mancardi, Maria Margherita;
    • Anello, Danila;
    • Tardivo, Silvia;
    • Biagini, Tommaso;
    • Capra, Valeria;
    • Casella, Antonella;
    • Cereda, Cristina;
    • Copeland, Brett R;
    • Gagliardi, Stella;
    • Gamucci, Alessandra;
    • Ginevrino, Monia;
    • Illi, Barbara;
    • Lorefice, Elisa;
    • Musaev, Damir;
    • Stanley, Valentina;
    • Micalizzi, Alessia;
    • Gleeson, Joseph G;
    • Mazza, Tommaso
    Publication type:
    journal article
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    Role of MRI T2-DRIVE in the assessment of pituitary stalk abnormalities without gadolinium in pituitary diseases.

    Published in:
    European Journal of Endocrinology, 2018, v. 178, n. 6, p. 613, doi. 10.1530/EJE-18-0094
    By:
    • Godano, Elisabetta;
    • Morana, Giovanni;
    • Di Iorgi, Natascia;
    • Pistorio, Angela;
    • Allegri, Anna Elsa Maria;
    • Napoli, Flavia;
    • Gastaldi, Roberto;
    • Calcagno, Annalisa;
    • Patti, Giuseppa;
    • Gallizia, Annalisa;
    • Notarnicola, Sara;
    • Giaccardi, Marta;
    • Noli, Serena;
    • Severino, Mariasavina;
    • Tortora, Domenico;
    • Rossi, Andrea;
    • Maghnie, Mohamad
    Publication type:
    Article
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    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
    49

    Advanced MR imaging and <sup>18</sup>F-DOPA PET characteristics of H3K27M-mutant and wild-type pediatric diffuse midline gliomas.

    Published in:
    European Journal of Nuclear Medicine & Molecular Imaging, 2019, v. 46, n. 8, p. 1685, doi. 10.1007/s00259-019-04333-4
    By:
    • Piccardo, Arnoldo;
    • Tortora, Domenico;
    • Mascelli, Samantha;
    • Severino, Mariasavina;
    • Piatelli, Gianluca;
    • Consales, Alessandro;
    • Pescetto, Marco;
    • Biassoni, Veronica;
    • Schiavello, Elisabetta;
    • Massollo, Michela;
    • Verrico, Antonio;
    • Milanaccio, Claudia;
    • Garrè, Maria Luisa;
    • Rossi, Andrea;
    • Morana, Giovanni
    Publication type:
    Article
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    Grading and outcome prediction of pediatric diffuse astrocytic tumors with diffusion and arterial spin labeling perfusion MRI in comparison with 18F–DOPA PET.

    Published in:
    European Journal of Nuclear Medicine & Molecular Imaging, 2017, v. 44, n. 12, p. 2084, doi. 10.1007/s00259-017-3777-2
    By:
    • Morana, Giovanni;
    • Piccardo, Arnoldo;
    • Tortora, Domenico;
    • Puntoni, Matteo;
    • Severino, Mariasavina;
    • Nozza, Paolo;
    • Ravegnani, Marcello;
    • Consales, Alessandro;
    • Mascelli, Samantha;
    • Raso, Alessandro;
    • Cabria, Manlio;
    • Verrico, Antonio;
    • Milanaccio, Claudia;
    • Rossi, Andrea
    Publication type:
    Article