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Enrico Bertini

IRCCS

113H指数
1.3K论文数
5.6W被引数
收录论文 387
发表时间
Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder出版商更正: RNU2-2中的双等位基因变体导致最普遍的隐性神经发育障碍
err2026-04-23
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errOAAI
errDaniel Greene; Rodrigo Mendez; Jon Lees; Mafalda Barbosa; Alessandro Bruselles; Luigi Chiriatti; Federico Ferraro; Cecilia Mancini; Rachel Schot; Frank Sleutels; Enrico Bertini; Devon E. Bonner; Arjan Bouman; Alice S. Brooks; T homas A. Cassini; Kimberly M. Ezell; Natalia Gomez-Ospina; Tjitske Kleefstra; Michael O’Donoghue; Lynette Rives; Vandana Shashi; Rebecca C. Spillmann; Mohamed Wafik; Kathleen Freson; Tahsin Stefan Barakat; Marco Tartaglia; Jonathan A. Bernstein; Andrew D. Mumford; Matthew T. Wheeler; Ernest Turro
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Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorderRNU2-2中的双等位基因变体导致最普遍的隐性神经发育障碍
err2026-03-30
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errOAAI
errDaniel Greene; Rodrigo Mendez; Jon Lees; Mafalda Barbosa; Alessandro Bruselles; Luigi Chiriatti; Federico Ferraro; Cecilia Mancini; Rachel Schot; Frank Sleutels; Enrico Bertini; Devon E. Bonner; Arjan Bouman; Alice S. Brooks; Thomas A. Cassini; Kimberly M. Ezell; Natalia Gomez-Ospina; Tjitske Kleefstra; Michael O’Donoghue; Lynette Rives; Vandana Shashi; Rebecca C. Spillmann; Mohamed Wafik; Kathleen Freson; Tahsin Stefan Barakat; Marco Tartaglia; Jonathan A. Bernstein; Andrew D. Mumford; Matthew T. Wheeler; Ernest Turro
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A comprehensive framework for the interpretation of TTN missense variantsTTN错义变异的全面解读框架
err2026-02-26
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errOAAI
errMaria Francesca Di Feo; Martin Rees; Victoria Lillback; Ay Lin Kho; Angelina Meybatova; Mark Holt; Heinz Jungbluth; Francesco Muntoni; Giovanni Baranello; Anna Sarkozy; Chiara Fiorillo; Serena Baratto; Claudio Bruno; Monica Traverso; Michele Iacomino; Marina Pedemonte; Noemi Brolatti; Francesca Faravelli; Federico Zara; G. M. Luana Mandarà; Alan H. Beggs; Casie A. Genetti; Pamela Barraza-Flores; Carmelo Rodolico; Sonia Messina; Franziska Schnabel; Istvan Balogh; Katalin Szakszon; Siiri Sarv; Katrin Õunap; Federica Silvia Ricci; Alessandro Mussa; Edoardo Malfatti; Enrico Silvio Bertini; Adele D’Amico; Daria Diodato; Michela Catteruccia; Gianina Ravenscroft; Mridul Johari; Sergei A. Kurbatov; Polina Chausova; Aysylu Murtazina; Anna Kuchina; Olga Shchagina; Minas Drakos; Martha Spilioti; Athanasios E. Evangeliou; Ioannis Zaganas; Huahua Zhong; Sushan Luo; Luciano Merlini; Cam-Tu-Emilie Nguyen; Giorgio Tasca; Tara Reeves; Stellan Mörner; Olof Danielsson; Bjarne Udd; Mathias Gautel; Marco Savarese
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Nusinersen rescues taurine deficiency in patients with type 1 Spinal Muscular Atrophynusinersen 救治了 1 型脊髓性肌萎缩症患者的牛磺酸缺乏。
err2026-02-16
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errOAAI
errRaffaella di Vito; Amber Hassan; Tommaso Nuzzo; Anna Caretto; Chiara Panicucci; Claudio Bruno; Enrico Bertini; Adele D’Amico; Alessandro Vercelli; Marina Boido; Francesco Errico; Livio Pellizzoni; Alessandro Usiello
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GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase DeficiencyGmppb-cdg导致溶酶体功能障碍和酸性 α-葡萄糖苷酶缺乏症
err2026-01-19
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errOAAI
errCarla Damiano; Antonietta Tarallo; Vincenza Gragnaniello; Sandra Strollo; Simona Fecarotta; M. Rosaria Tuzzi; Elena Polishchuk; Sandro Montefusco; Anna Valanzano; Antonia Assunto; Nadia Minopoli; Roberto Della Casa; Roman Polishchuk; Stijn L. M. in 't Groen; Diego Luis Medina; Enrico Bertini; Rosalba Carrozzo; Julia Emmerich; Benedikt Schoser; W. W. M. Pim Pijnappel; Giancarlo Parenti
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Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022关于罕见病遗传新生儿筛查(gNBS)的偏好、态度和观点:2009年至2022年文献的系统综述与综合
err2026-01-08
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errOAAI
errSylvia Martin; Gergana Kyosovska-Peshtenska; Jennifer Audi; Kaja Zarakowska; Åsa Grauman; Jorien Veldwijk; Brett Hauber; Joshua Coulter; Aileen Fürer; Alexandra Wagner; Aneta Piperkova; Edith Sky Gross; Ferdinand Knieling; Gulcin Gumus; Marek Zak; Maria Martinez-Fresno; Alicia Granados; Stefaan Sansen; Yuen Man; Janbernd Kirschner; Lucia Pia Bruno; Enrico Silvio Bertini; Silvia Ottombrino; Antonio Novelli; Emanuele Agolini; Sandra Courbier; Nicolas Garnier; Tsungai Jackson; Branimir Velinov; Jessie Dubief; Roman Raming; Christina Saier; Fernanda Fortunato; Vera Frankova; Mats Hansson
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The Impact of POLR3-related Leukodystrophy on Non-Affected Family Members: A Qualitative StudyPOLR3相关脑白质营养不良对未受影响的家庭成员的影响:一项定性研究
err2025-12-16
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errAdam Le; Kelly-Ann Thibault; Pouneh Amir Yazdani; Alexandra Chapleau; Romy J. van Voorst; Enrico Bertini; Francesco Nicita; Daniela Pohl; Sunita Venkateswaran; Stephanie Keller; Deborah Renaud; Dolores Gonzalez Moron; Marcelo Kauffman; Danilo De Assis Pereira; Adeline Vanderver; Marjo S. van der Knaap; Maxime Morsa; Geneviève Bernard
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Pleiotropic effects of MORC2 derive from its epigenetic signatureMORC2的多种表型效应源于其表观遗传特征
errBRAIN
IF11.7
err2025-12-01
err1
errOAAI
errPeymani, Fatemeh; Ebihara, Tomohiro; Smirnov, Dmitrii; Kopajtich, Robert; Ando, Masahiro; Bertini, Enrico; Carrozzo, Rosalba; Diodato, Daria; Distelmaier, Felix; Fang, Fang; Ghezzi, Daniele; Hempel, Maja; Iwanicka-Pronicka, Katarzyna; Klopstock, Thomas; Stenton, Sarah L.; Lamperti, Costanza; Liu, Zhimei; Murtazina, Aysylu; Okamoto, Yuji; Okazaki, Yasushi; Piekutowska-Abramczuk, Dorota; Rotig, Agnes; Ryzhkova, Oxana; Schlein, Christian; Shagina, Olga; Takashima, Hiroshi; Tsygankova, Polina; Zech, Michael; Meitinger, Thomas; Shimura, Masaru; Murayama, Kei; Prokisch, Holger
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Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypesGFAP变异在I型亚历山大病亚型中的基因型-表型相关性
err2025-11-30
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errOAAI
errTiziana Bachetti; Ylenia Vaia; Alice Grossi; Francesca Rosamilia; Enrico Bertini; Francesco Nicita; Deianira Bellitto; Florian Eichler; Geneviève Bernard; Amanda Nagy; Ayelet Zerem; Morteza Heidari; Ali Reza Tavasoli; Isabella Moroni; Isabella Ceccherini; Davide Tonduti
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Altered dimerization of certain riboflavin transporter 2 mutants: a possible source of UPR, altered calcium signalling and mitochondrial derangements in RTD2特定核黄素转运蛋白2突变体的二聚化改变:RTD2中UPR、钙信号传导异常和线粒体功能障碍的潜在来源
err2025-11-22
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PREAI
errMaria Tolomeo; Valentina Magliocca; Stefania Petrini; Alessia Nisco; Roberto Barbaro; Martina Lanza; Michela Piccione; Anna Maria Giudetti; Keith Massey; Lara Console; Cesare Indiveri; Katia Zanier; Enrico Bertini; Tiziana Persichini; Claudia Compagnucci; Matilde Colella; Maria Barile
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Infantile-Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24-25 Deletion: Expanding the Genotypic Spectrum婴儿期发病的进行性遗传性痉挛性截瘫,由纯合子ALS2外显子24-25缺失引起:扩展基因型谱
err2025-11-01
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errColona, Vito Luigi; Gnazzo, Maria; Genovese, Silvia; Vasco, Gessica; Travaglini, Lorena; Sabbadini, Maurizio; Macchiaiolo, Marina; Nicita, Francesco; Sartorelli, Jacopo; Piscopo, Carmelo; Castelli, Enrico; Bertini, Enrico; Bartuli, Andrea; Novelli, Antonio; Bella, Gessica Della; Vecchio, Davide
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Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in EuropeBAG3相关神经肌肉疾病在欧洲患者中的疾病谱及长期预后。Brain A J. Neurology, awaf223
errBRAIN
IF11.7
err2025-11-01
err1
PREAI
errFernandez-Eulate, Gorka; Gitiaux, Cyril; Thiele, Simone; Jungbluth, Heinz; Potulska-Chromik, Anna; Marini-Bettolo, Chiara; Davion, Jean Baptiste; Moris, German; Gallardo, Eduard; Olive, Montse; De Fuenmayor-fernandez De La Hoz, Carlos Pablo; Audic, Frederique; Isapof, Arnaud; Walter, Maggie C.; Angelini, Corrado; Bertini, Enrico; Schara-Schmidt, Ulrike; Claeys, Kristl G.; Dohrn, Maike F.; Dembele, Mohamed; Fer, Frederic; Brochier, Guy; Evangelista, Teresinha; Kostera-Pruszczyk, Anna; Attarian, Shahram; Straub, Volker; Dominguez-Gonzalez, Cristina; Vissing, John; Richard, Pascale; Metay, Corinne; Khraiche, Diala; Wahbi, Karim; Stojkovic, Tanya
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Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide ReportCOL6A1、COL6A2和COL6A3致病性变异在呈现VI型胶原蛋白相关肌病的大型意大利队列中的景观分析:一项全国性报告
err2025-10-08
err0
errOAAI
errFernanda Fortunato; Laura Fiocco; Alice Margutti; Marcella Neri; Adele D’Amico; Enrico Bertini; Enzo Ricci; Eugenio Maria Mercuri; Marika Pane; Roberto Massa; Giulia Greco; Angela Lucia Berardinelli; Cristina Cereda; Antonella Pini; Luciano Merlini; Carlo Fusco; Carmelo Rodolico; Sonia Messina; Chiara Fiorillo; Claudio Bruno; Marina Pedemonte; Monica Traverso; Isabella Moroni; Lorenzo Maggi; Sara Gibertini; Elena Pegoraro; Esther Picillo; Luisa Politano; Marianna Scutifero; Fabiana Vercellino; Francesca Massaro; Massimiliano Filosto; Paolo Gasparini; Federica Ricci; Tiziana Enrica Mongini; Rita Selvatici; Alessandra Ferlini; Francesca Gualandi
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A clinical and genotype-phenotype analysis of MACF1 variantsMACF1变异的临床与基因型-表型分析
err2025-09-08
err0
PREAI
errJordy Dekker; Rachel Schot; Kimberly A. Aldinger; David B. Everman; Camerun Washington; Julie R. Jones; Jennifer A. Sullivan; Rebecca C. Spillmann; Vandana Shashi; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Anne-Laure Mosca-Boidron; Laurence Perrin; Stéphane Auvin; Maha S. Zaki; Joseph G. Gleeson; Naomi Meave; Cassidy Wallace; Sophie Nambot; Julian Delanne; Sarah M. Ruggiero; Ingo Helbig; Mark P. Fitzgerald; Richard J. Leventer; Dorothy K. Grange; Emanuela Argilli; Elliott H. Sherr; Supraja Prakash; Derek E. Neilson; Francesco Nicita; Antonella Sferra; Enrico S. Bertini; Chiara Aiello; Knut Brockmann; Alexander B. Kuranov; Silke Kaulfuss; Sulman Basit; Majed Alluqmani; Ahmad Almatrafi; Jan M. Friedman; Colleen Guimond; Faruq Mohammed; Pooja Sharma; Divya Goel; Thomas Wirth; Mathieu Anheim; Paulina Bahena; Asuman Koparir; Konstantinos Kolokotronis; Barbara Vona; Thomas Haaf; Erdmute Kunstmann; Reza Maroofian; Henrike L. Sczakiel; Felix Boschann; Mala Misra-Isrie; Raymond J. Louie; Elliot S. Stolerman; Pedro A. Sanchez-Lara; Sandra Mergler; Renske Oegema; Yuri A. Zarate; Ariana Kariminejad; Homa Tajsharghi; Shimriet Zeidler; Anneke J.A. Kievit; Arjan Bouman; Gerarda Cappuccio; Nicola Brunetti-Pierri; Kyra E. Stuurman; Dayna Morel Swols; Mustafa Tekin; Jariya Upadia; Donna M. Martin; Daniel Craven; Susan M. Hiatt; Laura A. van de Pol; Felice D'Arco; Henri Margot; Martina Wilke; Soheil Yousefi; Tahsin Stefan Barakat; Monique M. van Veghel-Plandsoen; Eleonora Aronica; Jasper Anink; Stephen L. Rogers; Kevin C. Slep; Dan Doherty; William B. Dobyns; Grazia M.S. Mancini
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Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease SeverityAicardi-Goutières综合征患者(RNASEH2B基因p.Ala177Thr变异纯合子)的多中心国际队列的临床特征:疾病严重程度的早期临床标志物
err2025-07-25
err0
errOAAI
errCostanza Varesio; Davide Politano; Laura Adang; Elena Ballante; Roberta Battini; Enrico Bertini; Renato Borgatti; Valentina De Giorgis; Annamaria Del Boca; Francesca Dragoni; Elisa Fazzi; Jessica Galli; Jessica Garau; Francesco Gavazzi; Alice Gardani; Roberta La Piana; Isabella Moroni; Francesco Nicita; Anna Pichiecchio; Antonella Pini; Federica Ricci; Stefano Sartori; Davide Tonduti; Adeline Vanderver; Simona Orcesi
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COL4A1 and COL4A2-Related Disorders – Clinical Features, Diagnostic Guidelines, and Management.COL4A1和COL4A2相关疾病——临床特征、诊断指南和管理。
err2025-07-02
err0
errOAAI
errDiana Tambala; Rachel Vassar; John Snow; Simona Balestrini; Anna Bersano; Stéphanie Guey; Eleonora Bonaventura; Sabrina Signorini; Stefano Sartori; Enrico Bertini; Davide Tonduti; Cecilia Parazzini; Marina Macchiaiolo; Maria Federica Pelizza; Anna Pichiecchio; Laura Massella; Thibault Coste; Simona Orcesi; Davide Politano; Giacomo Bacci; Patricia L. Musolino
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Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel先天性肌病基因的临床有效性由ClinGen先天性肌病专家小组确定
err2025-06-10
err0
PREAI
errJustyne E Ross; May Flowers; Shannon McNulty; Mayher Patel; Hui Yang; Brooke Palus; Marwa Abdelmoneim Elnagheeb; Lucy Eng; Emma Owens; Alan H Beggs; Enrico Bertini; Adele D'Amico; Sandra Donkervoort; James Dowling; Fabiana Fattori; Ana Ferreiro; Casie A Genetti; Hernan Gonorazky; Monkol Lek; Amanda Lindy; Livija Medne; Francesco Muntoni; Sander Pajusalu; Katarina Pelin; John Rendu; Anna Sarkozy; Matteo Vatta; Tom Winder; Grace Yoon; Carsten G Bönnemann; Ozge Ceyhan-Birsoy
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Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>TCOL6相关严重型肌营养不良的表征:由复发性变异COL6A1 c.930+189C>T引起
errBrain
IF11.7
err2025-04-03
err0
errOAAI
errA Reghan Foley; Véronique Bolduc; Fady Guirguis; Sandra Donkervoort; Ying Hu; Rotem Orbach; Riley M McCarty; Apurva Sarathy; Gina Norato; Beryl B Cummings; Monkol Lek; Anna Sarkozy; Russell J Butterfield; Janbernd Kirschner; Andrés Nascimento; Daniel Natera-de Benito; Susana Quijano-Roy; Tanya Stojkovic; Luciano Merlini; Giacomo Comi; Monique Ryan; Denise McDonald; Pinki Munot; Grace Yoon; Edward Leung; Erika Finanger; Meganne E Leach; James Collins; Cuixia Tian; Payam Mohassel; Sarah B Neuhaus; Dimah Saade; Benjamin T Cocanougher; Mary-Lynn Chu; Mena Scavina; Carla Grosmann; Randal Richardson; Brian D Kossak; Sidney M Gospe; Vikram Bhise; Gita Taurina; Baiba Lace; Monica Troncoso; Mordechai Shohat; Adel Shalata; Sophelia H S Chan; Manu Jokela; Johanna Palmio; Göknur Haliloğlu; Cristina Jou; Corine Gartioux; Herimela Solomon-Degefa; Carolin D Freiburg; Alvise Schiavinato; Haiyan Zhou; Sara Aguti; Yoram Nevo; Ichizo Nishino; Cecilia Jimenez-Mallebrera; Shireen R Lamandé; Valérie Allamand; Francesca Gualandi; Alessandra Ferlini; Daniel G MacArthur; Steve D Wilton; Raimund Wagener; Enrico Bertini; Francesco Muntoni; Carsten G Bönnemann
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