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

A comprehensive framework for the interpretation of TTN missense variants

用于解释 TTN 错义变异的综合框架

Di Feo, Maria Francesca; Rees, Martin; Lillback, Victoria; Kho, Ay Lin; Meybatova, Angelina; Holt, Mark; Jungbluth, Heinz; Muntoni, Francesco; Baranello, Giovanni; Sarkozy, Anna; Fiorillo, Chiara; Baratto, Serena; Bruno, Claudio; Traverso, Monica; Iacomino, Michele; Pedemonte, Marina; Brolatti, Noemi; Faravelli, Francesca; Zara, Federico; Mandarà, G M Luana; Beggs, Alan H; Genetti, Casie A; Barraza-Flores, Pamela; Rodolico, Carmelo; Messina, Sonia; Schnabel, Franziska; Balogh, Istvan; Szakszon, Katalin; Sarv, Siiri; Õunap, Katrin; Ricci, Federica Silvia; Mussa, Alessandro; Malfatti, Edoardo; Bertini, Enrico Silvio; D'Amico, Adele; Diodato, Daria; Catteruccia, Michela; Ravenscroft, Gianina; Johari, Mridul; Kurbatov, Sergei A; Chausova, Polina; Murtazina, Aysylu; Kuchina, Anna; Shchagina, Olga; Drakos, Minas; Spilioti, Martha; Evangeliou, Athanasios E; Zaganas, Ioannis; Zhong, Huahua; Luo, Sushan; Merlini, Luciano; Nguyen, Cam-Tu-Emilie; Tasca, Giorgio; Reeves, Tara; Mörner, Stellan; Danielsson, Olof; Udd, Bjarne; Gautel, Mathias; Savarese, Marco

Lennox-Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy-insights from the Genoa International Workshop

Lennox-Gastaut综合征揭开面纱:推进诊断、治疗和宣传——来自热那亚国际研讨会的见解

Riva, Antonella; D'Onofrio, Gianluca; Amadori, Elisabetta; Arzimanoglou, Alexis; Auvin, Stéphane; Bagnasco, Irene; Barabino, Paola; Biagioli, Valentina; Brambilla, Isabella; Cangemi, Giuliana; Coppola, Antonietta; De Lillo, Antonella; Di Bonaventura, Carlo; Di Gennaro, Giancarlo; Ferlazzo, Edoardo; Gil-Nagel, Antonio; Gobbi, Giuseppe; Lattanzi, Simona; Kluger, Gerhard; Krämer, Günter; Mancardi, Maria Margherita; Minetti, Carlo; Nobili, Lino; Paravati, Elisa; Pringsheim, Milka; Rebessi, Erika; Romeo, Antonino; Russo, Angelo; Russo, Emilio; Santoro, Katia; Schubert-Bast, Susanne; Siri, Laura; Sourbron, Jo; Vari, Maria Stella; Verrotti, Alberto; Villani, Flavio; Viri, Maurizio; von Stülpnagel, Celina; Zamponi, Nelia; Zara, Federico; Striano, Pasquale

Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders

CAPN6基因变异与神经发育障碍之间可能存在关联

Calì, Francesco; Treccarichi, Simone; Vinci, Mirella; Avola, Emanuela; Musumeci, Antonino; Ragalmuto, Alda; Costanza, Carola; Greco, Donatella; Brancato, Desiree; Federico, Concetta; Città, Santina; Di Blasi, Francesco Domenico; Saccone, Salvatore; Scudieri, Paolo; Zara, Federico; Elia, Maurizio

A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications

FLVCR2 功能减弱变异体导致中度转运缺陷,引起脑积水综合征伴脑钙化。

Scala, Marcello; Leong, Nancy C P; Uyen Le, Thanh Nha; Zhang, Yu; Wu, Yichang; Severino, Mariasavina; Madia, Francesca; Shams Nosrati, Mohammad Sadegh; Dostmohammadi, Alireza; Capra, Valeria; Paladini, Dario; Buffelli, Francesca; Fulcheri, Ezio; Cappato, Serena; Menta, Ludovica; Bocciardi, Renata; Zara, Federico; Nguyen, Long N

Functional Characterization of a De Novo SCN2A Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy.

对与早期婴儿发育和癫痫性脑病相关的SCN2A新生混合变异进行功能表征。

Corradi Anna, Riva Antonella, Sterlini Bruno, Morinelli Lisastella, Ludovico Alessandra, Madia Francesca, Striano Pasquale, Albini Martina, Vitale Paola, Pusch Michael, Lombardo Giulia, Elia Maurizio, Chatron Nicolas, Lesca Gaetan, Zara Federico, Falsaperla Raffaele, Ferrera Loretta

ASAH2 deficiency affects sphingolipid homeostasis and neuromotor control, causing a progressive neurological disorder

ASAH2 缺乏症会影响鞘脂稳态和神经运动控制,导致进行性神经系统疾病。

Scala, Marcello; Sahu, Ranjan K; Severino, Mariasavina; Traverso, Monica; Iacomino, Michele; Pedemonte, Marina; Santorelli, Filippo; Tozza, Stefano; Zara, Federico; Fiorillo, Chiara; Chung, Hyung-Lok

A novel GMP-manufactured medicinal product candidate composed of NK and γδ T cells as adjunct immunotherapy for hematopoietic stem cell transplantation

一种新型的符合GMP标准的候选药物,由NK细胞和γδT细胞组成,可作为造血干细胞移植的辅助免疫疗法。

Morandi, Fabio; Della Lastra, Martina; Tripodi, Gino; Sabatini, Federica; Cocco, Claudia; Risso, Marco; Gramignoli, Roberto; Zara, Federico; Airoldi, Irma

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F-box domain

孤立性失神癫痫与F-box结构域中新发的FBXW7错义变异相关

Muhammad, Anees; Nosrati, Mohammad Sadegh Shams; Dostmohammadi, Alireza; Madia, Francesca; Mancardi, Maria Margherita; Fornarino, Stefania; Bosisio, Luca; Tavassol, Zahra Hoseini; Omrani, Mir Davood; Zara, Federico; Scala, Marcello

Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations

与脑小血管病和脑畸形相关的双等位基因COL4A2变异

Muhammad, Anees; Nosrati, Mohammad Sadegh Shams; Dostmohammadi, Alireza; Khorasanian, Reihaneh; Severino, Mariasavina; Doustmohammadi, Morteza; Madia, Francesca; Srivastava, Siddharth; Quinlan, Aisling; Paladini, Dario; Zara, Federico; Scala, Marcello

Biallelic Rare COL18A1 Variants in Patients With Neurological Phenotypes Without Severe Ophthalmologic Abnormalities

罕见的COL18A1双等位基因变异与神经系统表型相关,但无严重眼部异常

Guberman, Guido; Scala, Marcello; Striano, Pasquale; Zara, Federico; Severino, Mariasavina; Argilli, Emanuela; Sherr, Elliott H; Myers, Kenneth A