日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A novel spliceosomopathy caused by de novo SF3B3 variants.

一种由新生SF3B3变异引起的新型剪接体病。

Musante Luciana, Janos Pavel, Pianigiani Giulia, Cappelli Sara, Longo Alessandra, Alves Carolina, Schwaibold Eva Mc, Wagner Matias, Costain Gregory, Fridriksdottir Run, Stefansson Kari, Sulem Patrick, Lichtenbelt Klaske D, van Binsbergen Ellen, van Jaarsveld Richard H, Brusco Alfredo, Pavinato Lisa, Biamino Elisa, Spano Alessandra, Hildebrandt Clara C, Chan Yee-Ming, Groopman Emily, Berkenstadt Michal, Koboldt Daniel, Williamson Rachel, Brunner Han G, Vissers Lisenka Elm, Torring Pernille M, Hao Qin, Gelb Bruce D, Goldmuntz Elizabeth, Reed Kristen, Bedoukian Emma C, Vecchio Davide, Salzano Emanuela, Piccione Maria, Zanus Caterina, Mio Catia, Eichler Evan E, Wang Tianyun, Patterson Wesley G, Butler Kameryn M, Piotrowski Mattie, Mercier Sandra, Cogné Benjamin, Wentzensen Ingrid M, Buratti Emanuele, Magistrato Alessandra, Faletra Flavio

Reply to Van Opstal D. & Faas B.H.W

回复 Van Opstal D. & Faas BHW

D'Adamo, Pio; Guerci, Veronica Ileana; Fabretto, Antonella; Faletra, Flavio; Grasso, Domenico Leonardo; Ronfani, Luca; Montico, Marcella; Morgutti, Marcello; Guastalla, PierPaolo; Gasparini, Paolo; Sabbagh, Quentin; Larrieux, Marion; Schneider, Anouck; Theze, Corinne; Vincent, Marie-Claire; Coubes, Christine; Puechberty, Jacques; Renard, Sarah; Koenig, Michel; Pellestor, Franck; Cossée, Mireille; Gatinois, Vincent

Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly

剪接体基因SNW1的突变会导致伴有小头畸形的神经发育障碍

Ji, Lei; Yan, Jin; Losurdo, Nicole A; Wang, Hua; Liu, Liangjie; Li, Keyi; Liu, Zhen; Guo, Zhenming; Xu, Jing; Bibo, Adriana; Ren, Decheng; Yang, Ke; Luo, Yingying; Yang, Fengping; Wang, Gui; Xiang, Zhenglong; Wang, Yuan; Zhan, Huaizhe; Pan, Hu; Hu, Juanli; Zhong, Jianmin; Abou Jamra, Rami; Zacher, Pia; Musante, Luciana; Faletra, Flavio; Costa, Paola; Zanus, Caterina; Couque, Nathalie; Ruaud, Lyse; Cueto-González, Anna M; San Nicolas Fernández, Hector; Tizzano, Eduardo; Martinez Gil, Nuria; Liu, Xiaorong; Liao, Weiping; Abi Farraj, Layal; Huang, Alden Y; Zhang, Liying; Murali, Aparna; Schmuel, Esther; Han, Christina S; King, Kayla; Gu, Weiyue; Wang, Pengchao; Li, Kai; Link, Nichole; He, Guang; Bian, Shan; Mao, Xiao

Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development

整合复合物亚基INTS6的破坏会导致神经发育障碍,并损害神经发生和突触发育。

Peng, Xiaoxia; Jia, Xiangbin; Wang, Hanying; Chen, Jingjing; Zhang, Xiaolei; Tan, Senwei; Duan, Xinyu; Qiu, Can; Hu, Mengyuan; Hou, Haiyan; Parenti, Ilaria; Kuechler, Alma; Kaiser, Frank J; Renck, Alicia; Caylor, Raymond; Skinner, Cindy; Peeden, Joseph; Cogne, Benjamin; Isidor, Bertrand; Mercier, Sandra; Nicolas, Gael; Guerrot, Anne-Marie; Faletra, Flavio; Musante, Luciana; Cohen, Lior; Bergant, Gaber; Čuturilo, Goran; Peterlin, Borut; Seeley, Andrea; Bachman, Kristine; Martinez-Agosto, Julian A; van Ravenswaaij-Arts, Conny; Bos, Dennis; Kim, Katherine H; Bartolomaeus, Tobias; Schmederer, Zelia; Abou Jamra, Rami; Aref-Eshghi, Erfan; Zhao, Wenjing; Zou, Yongyi; Hu, Zhengmao; Pan, Qian; Li, Faxiang; Chen, Guodong; Li, Jiada; Hu, Zhangxue; Xia, Kun; Tan, Jieqiong; Guo, Hui

From DGCR8 expression analysis to diseased pathways in 22q11.2 deletion syndrome

从DGCR8表达分析到22q11.2缺失综合征的致病通路

Boz, Valentina; Di Rosa, Marianna; Pin, Alessia; De Martino, Eleonora; Faletra, Flavio; Baldo, Francesco; Magnolato, Andrea; Valencic, Erica

Right ventricular global work efficiency: A reliable non-invasive estimate of right ventricular contractility

右心室整体做功效率:一种可靠的无创性右心室收缩力评估方法

Manca, Paolo; Nuzzi, Vincenzo; Lucchino, Alessandro; Rugiano, Gerardo; Mulè, Massimiliano; Carvelli, Alessandra; Cannata, Stefano; Sciacca, Sergio; Parisi, Francesca; Sorrentino, Sabato; Faletra, Francesco Fulvio; Colombo, Paolo C; Cipriani, Manlio Gianni

The molecular landscape of hereditary ataxia: a single-center study

遗传性共济失调的分子图谱:一项单中心研究

Bregant, Elisa; Betto, Elena; Dal Secco, Chiara; Zucco, Jessica; Baldan, Federica; Allegri, Lorenzo; Lonigro, Incoronata Renata; Faletra, Flavio; Verriello, Lorenzo; Damante, Giuseppe; Mio, Catia

Common Ancestry from Southern Italy: Two Families with Dilated Cardiomyopathy Share the Same Homozygous Loss-of-Function Variant in NRAP

来自意大利南部的共同祖先:两个患有扩张型心肌病的家族携带相同的NRAP纯合功能缺失变异

Onore, Maria Elena; Caiazza, Martina; Mio, Catia; Scarano, Gioacchino; Di Letto, Pasquale; Rahman, Sarah Iffat; Monda, Emanuele; Amarelli, Cristiano; Borrelli, Rossella Nicoletta; Faletra, Flavio; Nigro, Vincenzo; Limongelli, Giuseppe; Piluso, Giulio

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management

CDK13相关疾病:27例病例系列研究的新见解及临床管理建议

Contrò, Gianluca; Baroni, Maria Chiara; Caraffi, Stefano Giuseppe; Napoli, Manuela; Artuso, Rosangela; Giliberti, Annarita; Bargiacchi, Sara; Mancano, Giorgia; Traficante, Giovanna; Mucciolo, Mafalda; Radio, Francesca Clementina; Cordeddu, Viviana; Mancini, Cecilia; Bottillo, Irene; Pirro, Federica Anna; Bonati, Maria Teresa; Becker, Cord-Christian; Carli, Diana; Mussa, Alessandro; Gonzalez, Maria Isis Atallah; Ruiz-Arana, Inge Lore; Kumps, Camille; Maystadt, Isabelle; Moortgat, Stephanie; Peker, Alp; Piccione, Maria; Grammatico, Paola; Rostomashvili, Nino; Lévy, Jonathan; Scala, Marcello; Capra, Valeria; Torella, Annalaura; van Eyk, Clare; Isidor, Bertrand; Cogne, Benjamin; Srivastava, Siddharth; Quinlan, Aisling; Vaisfeld, Alessandro; Licchetta, Laura; Frattini, Daniele; Graziano, Claudio; Severi, Giulia; Bacchi, Isabelle; Soliani, Luca; Sherr, Elliott H; Argilli, Emanuela; Goel, Himanshu; De Luca, Chiara; Leonardi, Silvia; Brancati, Francesco; Faletra, Flavio; Mio, Catia; Braibanti, Silvia; Gargano, Giancarlo; Fusco, Carlo; Novelli, Antonio; Tartaglia, Marco; Garavelli, Livia

MAD or MADness?

疯狂还是疯狂?

Faletra, Francesco Fulvio; Sgarito, Giuseppe; Parisi, Francesca; Franca, Eluisa La; Mulè, Massimiliano; Carvelli, Alessandra; Di Stefano, Giovanni; Borrello, Rita Laura; Nuzzi, Vincenzo; Manca, Paolo; Cipriani, Manlio