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Marcello Scala

istituto giannina gaslini
H指数:30
被引数:3,921

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Lithium chloride in vitro treatment shows potential to rescue the neuronal phenotype caused by WDFY3 haploinsufficiency

氯化锂体外处理显示出挽救由WDFY3单倍剂量不足引起的神经元表型的潜力

Molecular Psychiatry
IF10.1
2026-09-270
OA
Moritz J. Paha; Arshi Mustafa; Lyvin Tat; Sandy Richter; Linnaeus Bundalian; Sworadip Chowdhury; Akhil Velluva; Robin-Tobias Jauss; Knut Krohn; Kathleen Schön; Max Holzer; Anna S. Kirstein; Meena Balasubramanian; María Juliana Ballesta-Martínez; Lynne M. Bird; Kirsty Bradshaw; Ange-Line Bruel; Alfredo Brusco; Yanmin Chen; Aurore Garde; Silvia Guarducci; Yoel Gofin; Rachel E. Harrison; Alexis Heidlebaugh; Anna Hurst; Julian A. Martinez-Agosto; Jessica L. Mester; Alistair T. Pagnamenta; Marilena Pantaleo; Andrea Paras; Angela Peron; Tiziana Pisano; Ahna M. Rabani; Marcello Scala; Elena Shukarova-Angelovska; Sui Yang; Slavica Trajkova; Sheila Umayam; Tianyun Wang; Rami Abou Jamra; Johannes R. Lemke; Wieland Kiess; Konstantinos S. Zarbalis; Antje Garten; Diana Le Duc
Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features

导致ELAVL2单倍剂量不足的变异引起具有显著认知、行为和神经学特征的神经发育障碍

American Journal of Human Genetics
IF8.1
2026-09-010
PRE
Boon, Marina; Mulligan, Meghan R.; Verseput, Jolijn J. A.; Sakic, Barbara; Schreurs, Pleuni; Coll-Tane, Mireia; Accogli, Andrea; Alderman, Emily; Athey, Taryn; Boerkoel, Cornelius; Boni, Antonella; Caumes, Roseline; Gerkes, Erica; Haase, Sabine; Jaillard, Sylvie; Jeffries, Lauren; Kannu, Peter; Konstantino, Monica; Levy, Jonathan; Lokchine, Anna; Massink, Maarten; Samra, Nadra Nasser; Oegema, Renske; Scala, Marcello; Schieving, Jolanda; Schwartzmann, Sarina; Sczakiel, Henrike Lisa; Smol, Thomas; Striano, Pasquale; Verloes, Alain; Begtrup, Amber; Pfundt, Rolph; Franke, Barbara; Klein, Marieke; Schenck, Annette; Bicknell, Louise S.; de Vries, Bert B. A.
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

Current Issues in Molecular Biology
IF3
2026-08-310
OA
Mohammad 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
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

European Journal of Medical Genetics
IF1.7
2026-05-010
OA
Nosrati, 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
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

Human Genetics and Genomics Advances
IF3.6
2026-04-090
OAAI
Anushree 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
Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

KDM2B相关神经发育障碍和12q24.31微缺失综合征的综合评估

Clinical Genetics
IF2.3
2026-04-090
OAAI
Amber 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
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

European Journal of Human Genetics
IF4.6
2026-04-020
PRE
Camille 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
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

EUROPEAN JOURNAL OF MEDICAL GENETICS
IF1.7
2025-12-010
OAAI
Romano, Ferruccio; Nosrati, Mohammad Sadegh Shams; Madia, Francesca; Ognibene, Marzia; Traverso, Monica; Breda, Marta; Dostmohammadi, Alireza; Scala, Marcello; Zara, Federico; Mancardi, Maria Margherita; Capra, Valeria
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization

CNOT3-related神经发育障碍的综合分析: 表型和基因型特征

European Journal of Human Genetics
IF4.6
2025-06-250
PRE
Camille Engel; Michaela Rendek; Jessica Assoumani; Emanuela Argilli; Francesca Ariani; Anne-Laude Avice-Denizet; Emilia K. Bijlsmaa; 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
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

FRONTIERS IN GENETICS
IF2.8
2025-03-280
OA
Romano, 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
A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2025-03-010
PRE
Scala, 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.
Zinc Transporter ZIP13 G289R Variant from Spondylocheirodysplastic Ehlers-Danlos Syndrome Is Associated with Abnormal Hair Quality

锌转运蛋白ZIP13 G289R变异与骨骼手足发育不良型埃勒斯-当洛斯综合征相关的异常毛发质量

Journal of Investigative Dermatology
IF5.7
2025-02-260
PRE
Sofia Brito; Gunwoo Park; Gang Hyoung Lee; Valeria Capra; Gianmaria Viglizzo; Federico Zara; Jeong-Yun Kim; Ji-Hwan Park; Sung Kweon Cho; Beat Steinmann; Byung Mook Weon; Jiyoon Kim; Marcello Scala; Bum-Ho Bin
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management

CDK13相关疾病：来自27例病例系列的新见解及临床管理建议

CLINICAL GENETICS
IF2.3
2025-02-190
OAAI
Gianluca Contrò; Maria Chiara Baroni; Stefano Giuseppe Caraffi; Manuela Napoli; Rosangela Artuso; Annarita Giliberti; Sara Bargiacchi; Giorgia Mancano; Giovanna Traficante; Mafalda Mucciolo; Francesca Clementina Radio; Viviana Cordeddu; Cecilia Mancini; Irene Bottillo; Federica Anna Pirro; Maria Teresa Bonati; Cord-Christian Becker; Diana Carli; Alessandro Mussa; Maria Isis Atallah Gonzalez; Inge Lore Ruiz-Arana; Camille Kumps; Isabelle Maystadt; Stephanie Moortgat; Alp Peker; Maria Piccione; Paola Grammatico; Nino Rostomashvili; Jonathan Lévy; Marcello Scala; Valeria Capra; Annalaura Torella; Clare van Eyk; Bertrand Isidor; Benjamin Cogne; Siddharth Srivastava; Aisling Quinlan; Alessandro Vaisfeld; Laura Licchetta; Daniele Frattini; Claudio Graziano; Giulia Severi; Isabelle Bacchi; Luca Soliani; Elliott H. Sherr; Emanuela Argilli; Himanshu Goel; Chiara De Luca; Silvia Leonardi; Francesco Brancati; Flavio Faletra; Catia Mio; Silvia Braibanti; Giancarlo Gargano; Carlo Fusco; Antonio Novelli; Marco Tartaglia; Livia Garavelli
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2025-02-010
OAAI
Lessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; de la Calle-Martin, Oscar; Capra, Valeria; Cardenas, Paul; Chappe, Celine; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christele; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Huning, Irina; Iascone, Maria; Isidor, Bertrand; Jarvela, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Koelbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppala, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor

研究方向

暂未获取到该数据
F
Federico Zara
H 指数:76论文数:556被引数:2.5万
P
Pasquale Striano
H 指数:86论文数:1,383被引数:3.3万
V
Valeria Capra
H 指数:42论文数:265被引数:6,932
H
Henry Houlden
H 指数:120论文数:1,507被引数:6.5万
M
Michele Iacomino
H 指数:26论文数:105被引数:4,214
R
Reza Maroofian
H 指数:40论文数:319被引数:6,001
M
Mariasavina Severino
H 指数:39论文数:329被引数:6,897
V
Vincenzo Salpietro
H 指数:40论文数:198被引数:6,180
F
Francesca Madia
H 指数:34论文数:140被引数:4,659
A
Andrea Accogli
H 指数:28论文数:154被引数:2,391