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

Surgical Techniques for Lapidus Arthrodesis: Approaches, Indications, and Outcomes

Lapidus关节融合术的手术技巧:入路、适应症和结果

Donantoni, Marco; Santini, Simone; Martinelli, Dario; Marinozzi, Andrea

C16ORF70/MYTHO promotes healthy aging in C.elegans and prevents cellular senescence in mammals

C16ORF70/MYTHO 促进秀丽隐杆线虫健康衰老并防止哺乳动物细胞衰老

Anais Franco-Romero, Valeria Morbidoni, Giulia Milan, Roberta Sartori, Jesper Wulff, Vanina Romanello, Andrea Armani, Leonardo Salviati, Maria Conte, Stefano Salvioli, Claudio Franceschi, Viviana Buonomo, Casey O Swoboda, Paolo Grumati, Luca Pannone, Simone Martinelli, Harold Bj Jefferies, Ivan Diki

Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function

ATP6V1C1 和 ATP6V1B2 中起显性作用的变体通过改变溶酶体和/或自噬体功能引起多系统表型谱

Giovanna Carpentieri, Serena Cecchetti, Gianfranco Bocchinfuso, Francesca Clementina Radio, Chiara Leoni, Roberta Onesimo, Paolo Calligari, Agostina Pietrantoni, Andrea Ciolfi, Marco Ferilli, Cristina Calderan, Gerarda Cappuccio, Simone Martinelli, Elena Messina, Viviana Caputo, Ulrike Hüffmeier, Cy

The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans

CLTC 中反复发生的致病性 Pro890Leu 替换导致秀丽隐杆线虫的突触传递普遍缺陷

Luca Pannone, Valentina Muto, Francesca Nardecchia, Martina Di Rocco, Emilia Marchei, Federica Tosato, Stefania Petrini, Giada Onorato, Enrico Lanza, Lucia Bertuccini, Filippo Manti, Viola Folli, Serena Galosi, Elia Di Schiavi, Vincenzo Leuzzi, Marco Tartaglia, Simone Martinelli

"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant

两名携带双等位基因 GALC 突变(包括一个深内含子变异)的兄弟姐妹患有“非典型”克拉伯病

Nicita, Francesco; Stregapede, Fabrizia; Deodato, Federica; Pizzi, Simone; Martinelli, Simone; Pagliara, Daria; Aiello, Chiara; Cumbo, Francesca; Piemonte, Fiorella; D'Amico, Jessica; Pro, Stefano; Longo, Daniela; Genovese, Silvia; Tartaglia, Marco; Escolar, Maria L; Bertini, Enrico; Travaglini, Lorena

The Effect of Switching from Tenofovir Disoproxil Fumarate (TDF) to Tenofovir Alafenamide (TAF) on Liver Enzymes, Glucose, and Lipid Profile

从富马酸替诺福韦二吡呋酯 (TDF) 换用替诺福韦艾拉酚胺 (TAF) 对肝酶、葡萄糖和血脂谱的影响

Squillace, Nicola; Ricci, Elena; Menzaghi, Barbara; De Socio, Giuseppe Vittorio; Passerini, Simone; Martinelli, Canio; Mameli, Maria Sabrina; Maggi, Paolo; Falasca, Katia; Cordier, Laura; Celesia, Benedetto Maurizio; Salomoni, Elena; Di Biagio, Antonio; Pellicanò, Giovanni Francesco; Bonfanti, Paolo

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

一种因 CDC42 功能异常导致的涉及造血异常、炎症和 HLH 的新疾病

Michael T Lam #, Simona Coppola #, Oliver H F Krumbach #, Giusi Prencipe #, Antonella Insalaco #, Cristina Cifaldi, Immacolata Brigida, Erika Zara, Serena Scala, Silvia Di Cesare, Simone Martinelli, Martina Di Rocco, Antonia Pascarella, Marcello Niceta, Francesca Pantaleoni, Andrea Ciolfi, Petra Net

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

CDC42 功能失调导致多种发育表型

Simone Martinelli, Oliver H F Krumbach, Francesca Pantaleoni, Simona Coppola, Ehsan Amin, Luca Pannone, Kazem Nouri, Luciapia Farina, Radovan Dvorsky, Francesca Lepri, Marcel Buchholzer, Raphael Konopatzki, Laurence Walsh, Katelyn Payne, Mary Ella Pierpont, Samantha Schrier Vergano, Katherine G Lang

Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome

对 Src 同源性 2 结构域蛋白酪氨酸磷酸酶 2 (SHP2) 功能的抵消作用驱动 Noonan 综合征中复发性 Y62D 和 Y63C 替换的选择

Simone Martinelli, Aurelio P Nardozza, Silvia Delle Vigne, Gilda Sabetta, Paola Torreri, Gianfranco Bocchinfuso, Elisabetta Flex, Serenella Venanzi, Antonio Palleschi, Bruce D Gelb, Gianni Cesareni, Lorenzo Stella, Luisa Castagnoli, Marco Tartaglia

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype

CBL 肿瘤抑制基因的杂合生殖系突变导致 Noonan 综合征样表型

Simone Martinelli, Alessandro De Luca, Emilia Stellacci, Cesare Rossi, Saula Checquolo, Francesca Lepri, Viviana Caputo, Marianna Silvano, Francesco Buscherini, Federica Consoli, Grazia Ferrara, Maria C Digilio, Maria L Cavaliere, Johanna M van Hagen, Giuseppe Zampino, Ineke van der Burgt, Giovanni