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F

Federico Zara

university of genoa

76H指数
555论文数
2.5W被引数
收录论文 228
发表时间
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Wiring the developing brain: The Rho GTPase signaling network in neurodevelopmental disorders构建发育中的大脑：Rho GTPase信号网络在神经发育障碍中的作用
errNeurobiology of Disease
IF5.6
err2026-09-19
err0
errOAAI
errAntonio Falace; Mohammad Sadegh Shams Nosrati; Alireza Dostmohammadi; Morteza Doustmohammadi; Pasquale Striano; Federico Zara; Nanako Hamada; Koh-ichi Nagata; Marcello Scala
err分享
err收藏
Metabolic Reprogramming in Neurofibromatosis Type 1: Plasma Metabolomic Signatures of MEK Inhibition Selumetinib reshapes systemic metabolism in NF11型神经纤维瘤病的代谢重编程：MEK抑制剂塞鲁美替尼重塑系统性代谢的血浆代谢组学特征
errNeuro-Oncology Advances
IF4.1
err2026-09-01
err0
errOAAI
errAndrea Santangelo; Greta Volpedo; Adriana Blanda; Alessia Cafaro; Chiara Lavarello; Sebastiano Barco; Andrea Petretto; Gianluca Piccolo; Federico Zara; Giuliana Cangemi; Maria Cristina Diana; Pasquale Striano; null
err分享
err收藏
Traffic Jams in the Brain: How Kinesin Dysfunction Shapes Neurodevelopmental Disorders大脑中的交通堵塞：动力蛋白功能障碍如何塑造神经发育障碍
errCurrent Issues in Molecular Biology
IF3
err2026-08-31
err0
errOAAI
errMohammad Sadegh Shams Nosrati; Morteza Doustmohammadi; Alireza Dostmohammadi; Armita Kakavand Hamidi; Mahsa Boogari; Zahra Hoseini Tavassol; Shakiba Khosravinejat; Majid Asgari; Morvarid Shafiei; Amir Hesam Nemati; Ferruccio Romano; Valeria Capra; Bruno Sterlini; Mohammad Darbalaei; Mohammad Salehi; Mir Davood Omrani; Federico Zara; Zoha Kibar; Tatsuo Miyamoto; Marcello Scala
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Human nasal epithelial cells as an integrated platform for biomarker discovery, functional airway studies, and patient-specific stem cell generation人鼻上皮细胞作为整合平台用于生物标志物发现、功能气道研究和患者特异性干细胞生成
errCellular and Molecular Life Sciences
IF6.2
err2026-08-27
err0
errOAAI
errGiulia Gorrieri; Fabiana Ciciriello; Rosaria Casciaro; Floriana Guida; Ilaria Musante; Federico Alghisi; Simona Baldassari; Sofia Vaccaro; Federico Zara; Paolo Scudieri
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Five-year experience of a combined newborn screening for spinal muscular atrophy and severe combined immunodeficiency in Liguria, Italy意大利利古里亚地区脊髓性肌萎缩症和重症联合免疫缺陷症联合新生儿筛查五年经验
errEuropean Journal of Human Genetics
IF4.6
err2026-07-18
err0
errOAAI
errConcetta Aloi; Monica Traverso; Alessandro Salina; Marco Di Duca; Michela Cassanello; Stefania Bertoni; Stefano Volpi; Serena Palmeri; Marina Pedemonte; Noemi Brolatti; Barbara Tappino; Federica Lanza; Maura Faraci; Marco Gattorno; Federico Zara; Claudio Bruno; Mohamad Maghnie
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Horizontal gaze palsy with progressive scoliosis (HGPPS): expanding ROBO3 molecular spectrum and refining clinical-neuroimaging phenotypes水平眼球凝视麻痹伴进行性脊柱侧凸(HGPPS)：扩展ROBO3分子谱并细化临床-神经影像表型
errEuropean Journal of Medical Genetics
IF1.7
err2026-05-01
err0
PREAI
errNosrati, Mohammad Sadegh Shams; Romano, Ferruccio; Dostmohammadi, Alireza; Traverso, Monica; Nemati, Amir Hesam; Madia, Francesca; De Marco, Patrizia; Doustmohammadi, Morteza; Iacomino, Michele; Tavassol, Zahra Hoseini; Boogari, Mahsa; Khorasanian, Reihaneh; Omrani, Mir Davood; Zara, Federico; Scala, Marcello
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Heterozygous CECR2 Variants Support a Distinct Neurodevelopmental Syndrome with Features Overlapping Cat Eye Syndrome杂合子CECR2变异支持一种具有与猫眼综合征重叠特征的独特神经发育综合征
errHuman Genetics and Genomics Advances
IF3.6
err2026-04-09
err0
errOAAI
errAnushree Acharya; Irma Järvelä; Andrea Hernandez; Yasmin Rajendran; Thashi Bharadwaj; Dana H. Goodloe; Susan M. Hiatt; Jennifer Morrison; Patricia G. Wheeler; Jesse M. Hunter; Rachel Supinger; Scott E. Hickey; Andrea K. Petersen; Kari Magnussen; Marcello Scala; Pasquale Striano; Federico Zara; Juha Leppälä; Suzanne M. Leal; Isabelle Schrauwen
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Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion SyndromeKDM2B相关神经发育障碍和12q24.31微缺失综合征的综合评估
errClinical Genetics
IF2.3
err2026-04-09
err0
errOAAI
errAmber S. E. van Oirsouw; Tzung-Chien Hsieh; Martijn Koetsier; Abdulrazak Alali; Fatimah Albuainain; Elena Bacchelli; Tahsin Stefan Barakat; Yline Capri; Sandra Chantot-Bastaraud; Valeria Capra; Deanna Alexis Carere; Emma Clement; Nour Elkhateeb; Madeleine Franchi; Jing-Mei Li; Nicole Matthews; Vanda McNiven; Sarju G. Mehta; Masayuki Nakamura; Chanika Phornphutkul; Nicole Revencu; Marcello Scala; Natalie Shallow; Jennifer Stefanich; Marta Viggiano; Paola Visconti; Susan Walker; Federico Zara; Mariëlle Alders; Bobby P. C. Koeleman; Renske Oegema
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Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization更正：CNOT3相关神经发育障碍的全面分析：表型和基因型特征
errEuropean Journal of Human Genetics
IF4.6
err2026-04-02
err0
PREAI
errCamille Engel; Michaela Rendek; Jessica Assoumani; Emanuela Argilli; Francesca Ariani; Anne-Laude Avice-Denizet; Emilia K. Bijlsma; Pierre Blanc; Lucia Pia Bruno; Bert Callewaert; Valeria Capra; Michele Carullo; Bertrand Chesneau; Sandra Coppens; Cynthia Curry; Breanne Dale; Eric Dahlen; Andrée Delahaye-Duriez; Anne-Sophie Denommé-Pichon; Bénédicte Demeer; Lenka Dvořáková; Jan Fischer; David Geneviève; Thea Giacomini; Mette M. Handrup; Delphine Heron; Irina Hüning; Michelle Iacomino; Bertrand Isidor; Boris Keren; Stanislav Kmoch; David A. Koolen; Andrea Kübler; Jana Laštůvková; Carolyn Le; Jonathan Levy; Caterina Lo Rizzo; Silvia Maitz; Sandrine Marlin; Cyril Mignot; Ghayda Mirzaa; Inga Nagel; Sebastian Neuens; Lenka Nosková; Emily Pao; Anna Pecková; Julie Plaisancie; Joseph Porrmann; Flavia Privitera; André Reis; Alessandra Renieri; Marlène Rio; Alyssa Rippert; Lukáš Ryba; Marcello Scala; Jolanda H. Schieving; Elliott H. Sherr; Andrew Shuen; Richard Sidlow; Thomas Smol; Julie Soblet; Pasquale Striano; Mohnish Suri; Hannes Syryn; Frédéric Tran Mau-Them; Andre M. Travessa; Julien Van Gils; Georgia Vasileiou; Jolijn J. A. Verseput; Catheline Vilain; Catherine Vincent-Delorme; Emílie Vyhnálková; Emma L. Wakeling; Pia Zacher; Federico Zara; Paul Kuentz; Juliette Piard
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Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders
errInternational Journal of Molecular Sciences
IF4.9
err2026-01-23
err0
errOAAI
errFrancesco Calì; Simone Treccarichi; Mirella Vinci; Emanuela Avola; Antonino Musumeci; Alda Ragalmuto; Carola Costanza; Donatella Greco; Desiree Brancato; Concetta Federico; Santina Città; Francesco Domenico Di Blasi; Salvatore Saccone; Paolo Scudieri; Federico Zara; Maurizio Elia
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A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: Phenotypic and genotypic expansion一名癫痫和全面发育迟缓患者中的新型CUX2框移变异：表型和基因型的扩展
errEUROPEAN JOURNAL OF MEDICAL GENETICS
IF1.7
err2025-12-01
err0
errOAAI
errRomano, Ferruccio; Nosrati, Mohammad Sadegh Shams; Madia, Francesca; Ognibene, Marzia; Traverso, Monica; Breda, Marta; Dostmohammadi, Alireza; Scala, Marcello; Zara, Federico; Mancardi, Maria Margherita; Capra, Valeria
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Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approach修订Aicardi综合征诊断标准：基于专家共识的改良Delphi方法
errEuropean Journal of Paediatric Neurology
IF2.3
err2025-12-01
err0
PREAI
errMasnada, Silvia; De Giorgis, Valentina; Carugo, Umberto; Bahi-Buisson, Nadia; Cavallin, Mara; Corbett, Mark; Formica, Manuela; Gecz, Jozef; Petros, Natalia; Perucca, Emilio; Pichiecchio, Anna; Poli, Paolo Fusar; Sherr, Elliott H.; Veyver, Ignatia B. Van Den; Zara, Federico; Geroldinger, Martin; Veggiotti, Pierangelo; Arzimanoglou, Alexis
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SLC35A2-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic InsightsSLC35A2相关脑部疾病：遗传学、病理生理学和治疗见解
errInternational Journal of Molecular Sciences 2025, Vol. 26, Page 11560
IF4.9
err2025-11-29
err0
errOAAI
errBeatrice Risso; Antonella Riva; Greta Volpedo; Valerio Conti; Clara Tuccari di San Carlo; Federico Zara; Pasquale Striano; Antonio Falace
err分享
err收藏
Modeling Mowat-Wilson syndrome with patient iPSCs reveals transcriptional and phenotypic defects in neural progenitors利用患者iPSCs模拟Mowat-Wilson综合征揭示了神经祖细胞的转录和表型缺陷
errNeurobiology of Disease
IF5.6
err2025-11-29
err0
errOAAI
errIlaria Musante; Giulia Gorrieri; Serena Tamburro; Giulia Ferrera; Simona Baldassari; Anna Fetta; Stefano Giuseppe Caraffi; Aglaia Vignoli; Giovanni Fiorito; Livia Garavelli; Maria Paola Canevini; Duccio Maria Cordelli; Federico Zara; Emilia Ricci; Paolo Scudieri
err分享
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Lennox–Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy-insights from the Genoa International WorkshopLennox–Gastaut综合征解析：诊断、疗法及倡导的进展——热那亚国际研讨会见解
errEpilepsia
IF6.6
err2025-10-29
err0
errOAAI
errAntonella Riva; Gianluca D'Onofrio; Elisabetta Amadori; Alexis Arzimanoglou; Stéphane Auvin; Irene Bagnasco; Paola Barabino; Valentina Biagioli; Isabella Brambilla; Giuliana Cangemi; Antonietta Coppola; Antonella De Lillo; Carlo Di Bonaventura; Giancarlo Di Gennaro; Edoardo Ferlazzo; Antonio Gil-Nagel; Giuseppe Gobbi; Simona Lattanzi; Gerhard Kluger; Günter Krämer; Maria Margherita Mancardi; Carlo Minetti; Lino Nobili; Elisa Paravati; Milka Pringsheim; Erika Rebessi; Antonino Romeo; Angelo Russo; Emilio Russo; Katia Santoro; Susanne Schubert-Bast; Laura Siri; Jo Sourbron; Maria Stella Vari; Alberto Verrotti; Flavio Villani; Maurizio Viri; Celina von Stülpnagel; Nelia Zamponi; Federico Zara; Pasquale Striano
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Beyond Trikafta: new models to assess tissue dependent rescue of N1303K-CFTR超越Trikafta：评估组织依赖性N1303K-CFTR挽救的新模型
errFrontiers in Pharmacology
IF4.8
err2025-10-29
err0
errOAAI
errIwona Pranke†; Valeria Capurro†; Benoit Chevalier†; Emanuela Pesce†; Valeria Tomati; Cristina Pastorino; Mairead Kelly-Aubert; Aurelie Hatton; Elise Dreano; Mariateresa Lena; Renata Bocciardi; Federico Zara; Stefano Pantano; Vito Terlizzi; Cristina Lucanto; Stefano Costa; Laura Claut; Valeria Daccò; Piercarlo Poli; Massimo Maschio; Benedetta Fabrizzi; Nicole Caporelli; Marco Cipolli; Sonia Volpi; Frederique Chedevergne; Laure Cosson; Julie Macey; Sophie Ramel; Laurence Weiss; Dominique Grenet; Laurence Le Clainche-Viala; Benoit Douvry; Bruno Ravoninjatovo; Camille Audousset; Aurélie Tatopoulos; Bénédicte Richaud-Thiriez; Melissa Baravalle; Guillaume Thouvenin; Guillaume Labbé; Marie Mittaine; Philippe Reix; Isabelle Durieu; Julie Mankikian; Stéphanie Bui; Thao Nguyen-Khoa; Karim Khoukh; Clémence Martin; Jennifer Da Silva; Paola De Carli; Carlo Castellani; Federico Cresta; Luis Galietta; Anne Guillemaut; Emmanuelle Girodon; Natacha Remus; Mathis Bulcaen; Marjolein Ensinck; Miroslaw Zajac; Marianne Carlon; Jean LeBihan; Pierre-Régis Burgel; Isabelle Sermet-Gaudelus‡; Alexandre Hinzpeter‡; Nicoletta Pedemonte‡
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Pathophysiological Mechanisms Fostering Developmental and Epileptic Encephalopathies (DEE): a Complex Interplay between Genetics, Inflammation and Neurodegeneration促进发育性癫痫性脑病（DEE）的病理生理机制：遗传、炎症和神经退行性变之间复杂的相互作用
errCurrent Neurology and Neuroscience Reports
IF5.2
err2025-09-27
err0
PREAI
errAntonella Riva; Greta Volpedo; Federico Zara; Anna Fassio; Pasquale Striano; Antonio Falace
err分享
err收藏
Alternative splicing and residual function potentially expand the therapeutic landscape of the CFTRdele2ins182 variant选择性剪接和残余功能可能扩展CFTRdele2ins182变异的治疗范围
errPLOS ONE
IF2.6
err2025-09-16
err0
errOAAI
errPastorino, Cristina; Menta, Ludovica; Pesce, Emanuela; Lena, Mariateresa; Tomati, Valeria; Capurro, Valeria; Di Duca, Marco; Terlizzi, Vito; Gramegna, Andrea; Blasi, Francesco; Castellani, Carlo; Cappato, Serena; Zara, Federico; Pedemonte, Nicoletta; Bocciardi, Renata
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In silico, in vitro and ex vivo characterization of cystic fibrosis transmembrane conductance regulator pathogenic variants localized in the fourth intracellular loop and their rescue by modulators在体内外及细胞外对位于第四细胞内环的囊性纤维化跨膜电导调节因子致病性变异进行表征及其通过调节剂的修复
errBritish Journal of Pharmacology
IF7.7
err2025-08-20
err0
errOAAI
errEmanuela Pesce; Valeria Tomati; Valeria Capurro; Mariateresa Lena; Cristina Pastorino; Miro Astore; Serdar Kuyucak; Benoit Chevalier; Elvira Sondo; Federico Cresta; Alice Dighero; Vito Terlizzi; Cristina Fevola; Stefano Costa; Maria Cristina Lucanto; Valeria Daccò; Laura Claut; Francesca Ficili; Benedetta Fabrizzi; Renata Bocciardi; Federico Zara; Carlo Castellani; Luis J. V. Galietta; Shafagh A. Waters; Alexandre Hinzpeter; Nicoletta Pedemonte
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Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain MalformationsCOL4A2基因双等位基因变异与脑小血管病及脑畸形相关
errClinical Genetics
IF2.3
err2025-08-13
err0
errOAAI
errAnees Muhammad; Mohammad Sadegh Shams Nosrati; Alireza Dostmohammadi; Reihaneh Khorasanian; Mariasavina Severino; Morteza Doustmohammadi; Francesca Madia; Siddharth Srivastava; Aisling Quinlan; Dario Paladini; Federico Zara; Marcello Scala
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研究方向

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Johan G. Eriksson
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