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Mariasavina Severino

IRCCS Istituto Giannina Gaslini

39H指数
328论文数
6.8K被引数
收录论文 122
发表时间
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Automated segmentation of postsurgical resection cavities on magnetic resonance imaging in focal epilepsy: A Multicentre Epilepsy Lesion Detection study术后切除腔在癫痫病灶磁共振成像中的自动分割：一项多中心癫痫病灶检测研究
errEpilepsia
IF6.6
err2026-09-10
err0
errOAAI
errJieun Seo; Mathilde Ripart; Helene Kaas; Cornelius Kronlage; Ben Sinclair; Lucy Vivash; Merran R. Courtney; Terence J. O'Brien; Siby Gopinath; Harilal Parasuram; Sedat Kandemirli; Natally Alarab; Lillian Lai; Marcus Likeman; Kai Zhang; Jiajie Mo; Georgian Ciobotaru; James Galea; Philip Sequeiros-Peggs; Khalid Hamandi; Hua Xie; Venkata Sita Priyanka Illapani; William D. Gaillard; Nathan T. Cohen; Alexander G. Weil; Florence Henrichon-Goulet; Kenza S. Lahlou; Aristides Hadjinicolaou; Agustín Ibáñez; Gonzalo M. Rojas-Costa; Horst Urbach; Lara Bücheler; Marcel Heers; Adrián Valls Carbó; Rafael Toledano; Giulia Nobile; Costanza Parodi; Domenico Tortora; Alessandro Consales; Antonella Riva; Mariasavina Severino; Martin Tisdall; Felice D'Arco; Kshitij Mankad; Aswin Chari; Maria H. Eriksson; Rory J. Piper; J. Helen Cross; Torsten Baldeweg; Sofia González-Ortiz; Jose Pariente; Nuria Bargalló; Yawu Liu; Reetta Kälviäinen; Carmen Barba; Matteo Lenge; Renzo Guerrini; Masaki Iwasaki; Daichi Sone; Hiroyuki Maki; Tomoki Imokawa; Noriko Sato; Julien Jung; Francisco Sepulveda; Daniel Mansilla; Andres Goycoolea; Ingeborg Lopez; Antonio Napolitano; Alessandro De Benedictis; Luca De Palma; Maria Camilla Rossi-Espagnet; Nikolaos Kondylidis; Kostakis Gkiatis; Kyriakos Garganis; Joshua Pepper; Stefano Seri; John S. Duncan; Clarissa L. Yasuda; Lucas Scárdua-Silva; Marina K. M. Alvim; Fernando Cendes; Antonio G. Gennari; Ruth O'Gorman Tuura; Georgia Ramantani; Mariam Josyula; Joel Stein; Nishant Sinha; Kate Davis; R. Edward Hogan; Luigi Maccotta; Sophie Adler; Konrad Wagstyl
err分享
err收藏
Neuroimaging abnormalities and genotype–phenotype correlations in Noonan syndrome: a multicenter cohort study诺恩综合征的神经影像学异常和基因型-表型相关性：一项多中心队列研究
errThe Journal of Clinical Endocrinology and Metabolism
IF0
err2026-08-27
err0
errOAAI
errGiuseppa Patti; Nadia Gabriella Maiorano; Francesca Piccoli; Alice Zucconi; Maria Grazia Calevo; Federica Tamburrino; Emanuela Scarano; Concetta Schiavariello; Cesare Rossi; Laura Mazzanti; Eleonora Orlandini; Gabriella Pozzobon; Martina Finamore; Cristina Baldoli; Anna Grandone; Mario Cirillo; Francesca Aiello; Domenico Corica; Malgorzata Wasniewska; Alessandro Cattoni; Paolo Remida; Donatella Capalbo; Fabio Tortora; Maria Carolina Salerno; Sara Azzolini; Mariam Mansour; Maria Felicia Faienza; Stefano Palladino; Domenico Tortora; Giulia Rosti; Francesca Faravelli; Cristina Venturino; Pasquale Capuozzo; Letizia De Mori; Paola Maietta; Anna Elsa Maria Allegri; Chiara Morreale; Alessia Angelelli; Flavia Napoli; Natascia Di Iorgi; Andrea Rossi; Mohamad Maghnie; Mariasavina Severino; null
err分享
err收藏
Studying Familial Bainbridge-Ropers Syndrome Due to a Novel ASXL3 Germline Variant and Expanding the Clinical Spectrum研究由新型ASXL3种系变异引起的家族性Bainbridge-Ropers综合征并扩展其临床谱系
errChildren-Basel
IF2.1
err2026-04-27
err0
PREAI
errMariano, Daiana; Petrone, Valentina; Madia, Francesca; Severino, Mariasavina; Basso, Luca; Capra, Valeria; Vari, Maria Stella; Marras, Antonio; Tantari, Giacomo; d'Annunzio, Giuseppe
err分享
err收藏
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality蛋白酶体调节因子PSMF1的变异导致从帕金森病到围产期死亡表型谱
errNature Communications
IF15.7
err2026-04-15
err0
errOAAI
errFrancesca Magrinelli; Christelle Tesson; Plamena R. Angelova; Jose A. Rodriguez; Annarita Scardamaglia; Benjamin O’Callaghan; Simon A. Lowe; Ainara Salazar-Villacorta; Brian Hon-Yin Chung; Matthew Jaconelli; Barbara Vona; Noemi Esteras; Angela Mammana; Junko Shimazu; Anna Ka-Yee Kwong; Thomas Courtin; Shahryar Alavi; Reza Maroofian; Raja Nirujogi; Mariasavina Severino; Edoardo Monfrini; Clarissa Rocca; Patrick A. Lewis; Stephanie Efthymiou; Rebecca Buchert; Linda Sofan; Pawel Lis; Chloé Pinon; Guido J. Breedveld; Martin Man-Chun Chui; David Murphy; Vanessa Pitz; Mary B. Makarious; Simone Baiardi; Marina Volin; Marlene Cassar; Bassem A. Hassan; Sana Iftikhar; Peter Bauer; Michele Tinazzi; Marina Svetel; Bedia Samanci; Haşmet A. Hanağası; Basar Bilgiç; Francesco Cavallieri; Mario Santangelo; José A. Obeso; Monica M. Kurtis; Guillaume Cogan; Güneş Kiziltan; Tuğçe Gül-Demirkale; Hülya Tireli; Gülbün A. Yüksel; Gül Yalçın-Cakmakli; Bülent Elibol; Nina Barišić; Earny Wei-Sen Ng; Sze-Shing Fan; Tova Hershkovitz; Karin Weiss; Javeria Raza Alvi; Tipu Sultan; Issam Azmi Alkhawaja; Tawfiq Froukh; Hadeel Abdollah E. Alrukban; Muhammad Nadeem Anjum; Anjum Saeed; Huma Arshad Cheema; Christine Fauth; Ulrich A. Schatz; Thomas Zöggeler; Michael Zech; Karen Stals; Vinod Varghese; Sonia Gandhi; Cornelis Blauwendraat; John A. Hardy; Alessio Di Fonzo; Vincenzo Bonifati; Tobias B. Haack; Aida M. Bertoli-Avella; Suzanne Lesage; Ayşe Nazlı Başak; Robert Steinfeld; Piero Parchi; James E. C. Jepson; Dario R. Alessi; Alexis Brice; Hermann Steller; Andrey Y. Abramov; Kailash P. Bhatia; Henry Houlden
err分享
err收藏
Biallelic Rare COL18A1 Variants in Patients with Neurological Phenotypes Without Severe Ophthalmologic Abnormalities双等位基因稀有COL18A1变异在具有神经表型但无严重眼科异常的患者中
errPediatric Neurology
IF2.1
err2026-01-02
err0
PREAI
errGuido Guberman; Marcello Scala; Pasquale Striano; Federico Zara; Mariasavina Severino; Emanuela Argilli; Elliott H. Sherr; Kenneth A. Myers
err分享
err收藏
Reevaluating isolated central apnea in early-term and term newborns: A neurological red flag for perinatal stroke重新评估足月和近足月新生儿中的孤立性中枢性呼吸暂停：产前卒中的一种神经学警示信号
errEuropean Journal of Paediatric Neurology
IF2.3
err2025-12-01
err0
PREAI
errCalandrino, Andrea; Battaglini, Marcella; Caruggi, Samuele; Bonato, Irene; Massirio, Paolo; Andreato, Chiara; Vinci, Francesco; Malova, Mariya; Bertamino, Marta; Amadori, Elisabetta; Uccella, Sara; Resaz, Martina; Severino, Mariasavina; Rossi, Andrea; Striano, Pasquale; Ramenghi, Luca Antonio
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EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defectsEIPR1基因变异导致伴有内体-溶酶体和致密核心囊泡缺陷的神经发育障碍
errBrain
IF11.7
err2025-10-07
err0
PREAI
errSaikat Ghosh; Jaskaran Singh; Nadirah S Damseh; Mariasavina Severino; Raffaella De Pace; Adriana E Golding; Michal Jarnik; Poonam Thakran; Laurence Faivre; Jade Heitz; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Lama AlAbdi; Firdous Abdulwahab; Safia Sumayli; Mashael Alqahtani; Huma Arshad Cheema; Iram Javed; JiHye Kim; Hanns Lochmüller; Hagar Mor-Shaked; Jennifer E Neil; Ganeshwaran H Mochida; Giovanni Zifarelli; Peter Bauer; Ehsan Barkhordari; Ehsan Ghayoor Karimiani; Henry Houlden; Bassam Abu-Libdeh; Simon Edvardson; Orly Elpeleg; Reza Maroofian; Shunmoogum A Patten; Juan S Bonifacino
err分享
err收藏
A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disordersTUBB2A基因中的一个突变热点与异源二聚体形成障碍及严重脑发育障碍相关联。
errFrontiers in Cellular Neuroscience
IF4
err2025-09-27
err0
errOAAI
errGabriele Di Pasquale; Jacopo Colella; Carola P. Di Cataldo; Miguel A. Soler; Sara Fortuna; Emma Mizrahi-Powell; Mathilde Nizon; Benjamin Cognè; Valentina Turchetti; Giuseppe D. Mangano; Francesco F. Comisi; Corrado Cecchetti; Alessandra Giliberti; Rosaria Nardello; Piero Pavone; Raffaele Falsaperla; Gabriella Di Rosa; Gilad D. Evrony; Maurizio Delvecchio; Mariasavina Severino; Andrea Accogli; Alessandro Vittori; Vincenzo Salpietro
err分享
err收藏
A STOP-Gain RNF213 Variant Causes Chorea, Stroke-Like Episodes, and Leigh Syndrome-Like Encephalopathy一个RNF213基因的终止密码子获得型变异导致舞蹈症、卒中样发作和 Leigh 综合征样脑病。
errMovement Disorders
IF7.6
err2025-09-26
err0
errOAAI
errRoberta Bovenzi MD; Mariasavina Severino MD; Jennifer Nichols MD; Fred Shen MD, PhD; Ignacio J. Keller Sarmiento MD; Bernabe I. Bustos PhD; Lisa Kinsley CGC; Dimitri Krainc MD, PhD; Niccolò E. Mencacci MD, PhD
err分享
err收藏
Pediatric Opsoclonus-Myoclonus-Ataxia Syndrome can Lead to Long-Term Neurological, Neuropsychological, and Cognitive Sequelae Associated with Cerebellar Atrophy小儿眼外肌阵挛-肌阵挛-共济失调综合征可导致与小脑萎缩相关的长期神经学、神经心理学和认知后遗症。
errCEREBELLUM
IF2.4
err2025-05-09
err0
PREAI
errMartinez Popple, Marina; Severino, Mariasavina; Preiti, Deborah; Conte, Massimo; Pistorio, Angela; Zoia, Agata; Parodi, Costanza; Tortora, Domenico; Ambrosino, Valentina; Rossi, Andrea; Nobili, Lino; De Grandis, Elisa
err分享
err收藏
Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center动静脉脑高流量分流术：来自一家儿科三级护理中心的患者的遗传分析
errFRONTIERS IN GENETICS
IF2.8
err2025-03-28
err0
errOAAI
errRomano, Ferruccio; De Marco, Patrizia; Amico, Giulia; Mallamaci, Marisa; Pavanello, Marco; Piatelli, Gianluca; Scala, Marcello; Zara, Federico; Faravelli, Francesca; Severino, Mariasavina; Tortora, Domenico; Pasetti, Francesco; Castellan, Lucio; Buratti, Silvia; Capra, Valeria
err分享
err收藏
A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2025-03-01
err0
PREAI
errScala, Marcello; Leong, Nancy C. P.; Le, Thanh Nha Uyen; Zhang, Yu; Wu, Yichang; Severino, Mariasavina; Madia, Francesca; Nosrati, Mohammad Sadegh Shams; Dostmohammadi, Alireza; Capra, Valeria; Paladini, Dario; Buffelli, Francesca; Fulcheri, Ezio; Cappato, Serena; Menta, Ludovica; Bocciardi, Renata; Zara, Federico; Nguyen, Long N.
err分享
err收藏
Multidisciplinary, multicenter consensus for the care of patients affected with Sturge-Weber syndrome
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2025-01-16
err1
errOAAI
errEl Hachem, May; Diociaiuti, Andrea; Galeotti, Angela; Grussu, Francesca; Gusson, Elena; Ferretti, Alessandro; Marras, Carlo Efisio; Vecchio, Davide; Cappelletti, Simona; Severino, Mariasavina; Gandolfo, Carlo; Reali, Simone; Longo, Rosa; D'Amore, Carmen; Gariazzo, Lodovica; Marraffa, Federica; Degli Atti, Marta Luisa Ciofi; Mancardi, Maria Margherita; Sturge Weber Syndrome Multidisciplinary Group, Federico
err分享
err收藏
Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiencybiallelic NDUFA9基因变异导致一种进行性神经发育障碍，其特征为明显的肌张力障碍和线粒体复合物I缺乏。
errBRAIN COMMUNICATIONS
IF4.5
err2025-01-01
err0
errOAAI
errMagrinelli, Francesca; Taylor, Lucie S.; Sedighzadeh, Sahar; Moualek, Dalila; Severino, Mariasavina; Grba, Daniel N.; Alston, Charlotte L.; Champion, Michael; Tavasoli, Ali Reza; Lascelles, Karine; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Fateh, Sahand Tehrani; Kordi-Tamandani, Mohammad; Khajeh, Ali; Yaghoubi, Saeedeh; Dominik, Natalia; Babaei, Meisam; Javadzadeh, Mohsen; Varaghchi, Jamileh Rezazadeh; Miryounesi, Mohammad; Ghayoor Karimiani, Ehsan; Tazir, Meriem; Ali Pacha, Lamia; Bhatia, Kailash P.; Taylor, Robert W.; Houlden, Henry; Maroofian, Reza
err分享
err收藏
Multi-view fusion of diffusion MRI microstructural models: a preterm birth study
errFRONTIERS IN NEUROSCIENCE
IF3.2
err2024-12-20
err0
errOAAI
errTro, Rosella; Roascio, Monica; Tortora, Domenico; Severino, Mariasavina; Rossi, Andrea; Garyfallidis, Eleftherios; Arnulfo, Gabriele; Fato, Marco Massimo; Fadnavis, Shreyas
err分享
err收藏
Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment双等位基因NDUFA13变异导致神经发育表型，逐渐神经功能缺损
errBRAIN COMMUNICATIONS
IF4.5
err2024-12-17
err0
errOAAI
errKaiyrzhanov, Rauan; Thompson, Kyle; Efthymiou, Stephanie; Mukushev, Askhat; Zharylkassyn, Akbota; Prasad, Chitra; Karimiani, Ehsan Ghayoor; Alvi, Javeria Raza; Niyazov, Dmitriy; Alahmad, Ahmad; Babaei, Meisam; Tajsharghi, Homa; Albash, Buthaina; Alaqeel, Ahmad; Charif, Majida; Hashemi, Narges; Heidari, Morteza; Kalantar, Seyed Mehdi; Lenaers, Guy; Mehrjardi, Mohammad Yahya Vahidi; Srinivasan, Varunvenkat M.; Gowda, Vykuntaraju K.; Mirabutalebi, Seyed Hamidreza; Carere, Deanna Alexis; Movahedinia, Mojtaba; Murphy, David; Mcfarland, Robert; Abdel-Hamid, Mohamed S.; Elhossini, Rasha M.; Alavi, Shahryar; Napier, Melanie; Belanger-Quintana, Amaya; Prasad, Asuri N.; Jakobczyk, Jessica; Roubertie, Agathe; Rupar, Tony; Sultan, Tipu; Toosi, Mehran Beiraghi; Sazanov, Leonid; Severino, Mariasavina; Houlden, Henry; Taylor, Robert W.; Maroofian, Reza
err分享
err收藏
Pituitary Gland Duplication Syndrome: An International Imaging Analysis
errAMERICAN JOURNAL OF NEURORADIOLOGY
IF3.7
err2024-10-11
err0
PREAI
errLobel, Ulrike; Catala, Martin; D'Arco, Felice; Lequin, Maarten H.; Pasquariello, Rosa; Ilves, Pilvi; Loorits, Dagmar; Tahepold, Annika; Pezzetti, Giulio; Craven, Ian; Severino, Mariasavina; Rossi, Andrea
err分享
err收藏
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy
errNEUROLOGY-GENETICS
IF3.7
err2024-08-01
err0
errOAAI
errClara-Hwang, Angela; Stefani, Stefani; Lau, Tracy; Scala, Marcello; Aynekin, Busra; Bernardo, Pia; Madia, Francesca; Bakhtadze, Sophia; Kaiyrzhanov, Rauan; Maroofian, Reza; Zara, Federico; Srinivasan, Varunvenkat M.; Gowda, Vykuntaraju; Guliyeva, Ulviyya; Montavont, Alexandra; Poulat, Anne-Lise; Guelec, Ayten; Berger, Colette; Ville, Dorothee M.; de Bellescize, Julitta; Cabet, Sara; Wonneberger, Antje; Schulz, Alexander; Rodriguez-Palmero, Agusti; Chatron, Nicolas; Lesca, Gaetan; Per, Hueseyin; Goel, Himanshu; Brown, Janis; Frey, Tanja; Steindl, Katharina; Rauch, Anita; Severino, Mariasavina; Houlden, Henry; Nicolaides, Paola; Striano, Pasquale; Efthymiou, Stephanie
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err收藏
Prenatal assessment of brain malformations on neuroimaging: an expert panel review
errBRAIN
IF11.7
err2024-07-26
err0
errOAAI
errPogledic, Ivana; Mankad, Kshitij; Severino, Mariasavina; Lerman-Sagie, Tally; Jakab, Andras; Hadi, Efrat; Jansen, Anna C.; Bahi-Buisson, Nadia; Di Donato, Natalya; Oegema, Renske; Mitter, Christian; Capo, Ivan; Whitehead, Matthew T.; Haldipur, Parthiv; Mancini, Grazia; Huisman, Thierry A. G. M.; Righini, Andrea; Dobyns, Bill; Barkovich, James A.; Milosevic, Natasa Jovanov; Kasprian, Gregor; Lequin, Maarten
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err收藏
CORRELATIONS BETWEEN OPTICAL COHERENCE TOMOGRAPHY AND MAGNETIC RESONANCE IMAGING IN NEUROFIBROMATOSIS TYPE 1-RELATED OPTIC PATHWAY GLIOMAS
errNEURO-ONCOLOGY
IF13.4
err2024-06-18
err0
errOAAI
errPiccolo, Gianluca; Luongo, Ilaria; Parodi, Costanza; Camicione, Paola; Carlini, Luca; Chelleri, Cristina; Severino, Maria Savina; Serafino, Massimiliano; Molteni, Marta; Striano, Pasquale; Diana, Maria Cristina
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