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

Additive effect of multiple genetic variants in SEC23B and PIEZO1 on iron metabolism dyshomeostasis in hereditary anemias

SEC23B 和 PIEZO1 中多个遗传变异对遗传性贫血中铁代谢失衡的累加效应

Nostroso, Antonella; Marra, Roberta; Rosato, Barbara Eleni; Iscaro, Anthony; Esposito, Federica Maria; D'Onofrio, Vanessa; Dionisi, Manuela; Ribersani, Michela; Giordano, Francesca; Bulla, Anna; Del Vecchio, Giovanni Carlo; Scianguetta, Saverio; Mandrile, Giorgia; Ceglie, Teresa; Scudiero, Olga; Ferrero, Giovanni Battista; Perrotta, Silverio; Iolascon, Achille; Andolfo, Immacolata; Russo, Roberta

The First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening

苯丙酮尿症的最初1000天:母体苯丙酮尿症及新生儿筛查阳性后早期生命管理的叙述性综述

Verduci, Elvira; Tosi, Martina; Zuvadelli, Juri; Giorda, Sara; Biasucci, Giacomo; Leuzzi, Vincenzo; Spada, Marco; Burlina, Alberto; Dionisi Vici, Carlo

Neurological manifestations and genotype-phenotype correlations in NDUFAF6-associated mitochondrial disease.

NDUFAF6 相关线粒体疾病的神经系统表现和基因型-表型相关性。

Torraco Alessandra, Alston Charlotte L, Barcia Giulia, Verrigni Daniela, Rizza Teresa, Di Nottia Michela, Altobelli Anastasia, Martinelli Diego, Diodato Daria, Efthymiou Stephanie, Kose Melis, Kriouile Yamna, Lim Albert Z, Morlino Silvia, Siri Barbara, Saadi Nebal Waill, Novelli Antonio, Houlden Henry, Dionisi-Vici Carlo, McFarland Robert, Rötig Agnès, Bertini Enrico, Taylor Robert W, Carrozzo Rosalba

Social isolation and loneliness effects on medication adherence in older adults: perspectives from a systematic review

社会孤立和孤独对老年人药物依从性的影响:系统评价的视角

Improta, Alessandra; Taborri, Sofia; Giannetta, Noemi; Dionisi, Sara; Di Simone, Emanuele; Renzi, Erika; Massimi, Azzurra; De Leo, Aurora; Panattoni, Nicolò; Orsi, Giovanni Battista; Fabbian, Fabio; Liquori, Gloria; Amato, Leandro; Di Muzio, Marco

Physiological foundation modeling for subclinical disease assessment: a prospective pilot

基于生理基础模型的亚临床疾病评估:一项前瞻性试点研究

Yuan, William; Xu, Shiwei; Dionisi, Sara; von Herrmann, Katharine; Frederick-Dyer, Kate; Cheung-Flynn, Joyce; Kennedy, Caleb; Flynn, Charles R; Lipnick, Scott

Low-dose irradiation of the gut improves the efficacy of PD-L1 blockade in metastatic cancer patients

低剂量肠道照射可提高转移性癌症患者PD-L1阻断疗法的疗效

Jianzhou Chen ,Antonin Levy ,Ai-Ling Tian ,Xuehan Huang ,Guoxin Cai ,Marine Fidelle ,Conrad Rauber ,Pierre Ly ,Eugénie Pizzato ,Lisa Sitterle ,Gianmarco Piccinno ,Peng Liu ,Sylvère Durand ,Misha Mao ,Liwei Zhao ,Valerio Iebba ,Hannah Felchle ,Anne-Laure Mallard de La Varende ,Julius Clemens Fischer ,Simon Thomas ,Tim F Greten ,Jennifer C Jones ,Cecilia Monge ,Sandra Demaria ,Silvia Formenti ,Lorenzo Belluomini ,Valeria Dionisi ,Christophe Massard ,Pierre Blanchard ,Charlotte Robert ,Clément Quevrin ,Eloise Lopes ,Céline Clémenson ,Michele Mondini ,Lydia Meziani ,Yizhou Zhan ,Chengbing Zeng ,Qingxin Cai ,Daphne Morel ,Roger Sun ,Pierre-Antoine Laurent ,Monica Mangoni ,Vanessa Di Cataldo ,Chiara Arilli ,Maike Trommer ,Simone Wegen ,Sebastian Neppl ,Rachel P Riechelmann ,Marcos P Camandaroba ,Elson Santos Neto ,Pierre-Edouard Fournier ,Nicola Segata ,Peter Holicek ,Lorenzo Galluzzi ,Aitziber Buqué ,Carolina Alves Costa Silva ,Lisa Derosa ,Guido Kroemer ,Chuangzhen Chen ,Laurence Zitvogel ,Eric Deutsch

Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients

NBAS相关疾病的肝脏表型:230例患者的临床病程、预后因素和结局

Peters, Bianca; Schlieben, Lea Dewi; Brennenstuhl, Heiko; Arikan, Cigdem; Bedoyan, Sarah M; Bulut, Fatma Derya; Crushell, Ellen; Dionisi-Vici, Carlo; Drab, Ada; Fichtner, Alexander; Garcia, Aixa Gonzalez; Fry, Deanna; Garbade, Sven F; Hammann, Nicole; Hadzic, Nedim; Hegarty, Robert; Jørgensen, Marianne Hørby; Laaß, Martin; Lainka, Elke; Leghlam, Lina; Lurz, Eberhard; Mungan, Halise Neslihan Önenli; Pietrobattista, Andrea; Polo, Begona; Socha, Piotr; Squires, James E; Sun, Tian; Vogel, Georg F; Prokisch, Holger; Kölker, Stefan; Hoffmann, Georg F; Staufner, Christian; Lenz, Dominic

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism

关键自噬锚定因子EPG5的突变与神经发育障碍和神经退行性疾病(包括早发性帕金森病)相关。

Dafsari, Hormos Salimi; Deneubourg, Celine; Singh, Kritarth; Maroofian, Reza; Suprenant, Zita; Kho, Ay Lin; Ingham, Neil J; Steel, Karen P; Sheshadri, Preethi; Baur, Franciska; Hentrich, Lea; Gerisch, Birgit; Zamani, Mina; Alves, Cesar; Siddiqui, Ata; Dafsari, Haidar S; Salari, Mehri; Lang, Anthony E; Harris, Michael; Abdelaleem, Alice; Sadeghian, Saeid; Azizimalamiri, Reza; Galehdari, Hamid; Shariati, Gholamreza; Sedaghat, Alireza; Zeighami, Jawaher; Calame, Daniel; Marafi, Dana; Duan, Ruizhi; Boehnke, Adrian; Clark, Gary D; Rosenfeld, Jill A; Mohila, Carrie A; Steel, Dora; Chopra, Saurabh; Sharma, Suvasini; Kohlschmidt, Nicolai; Patzer, Steffi; Saffari, Afshin; Ebrahimi-Fakhari, Darius; Çavdartepe, Büşra Eser; Chang, Irene J; Beckman, Erika; Peters, Renate; Fennell, Andrew Paul; Lo, Bernice; Averdunk, Luisa; Distelmaier, Felix; Baethmann, Martina; Elmslie, Frances; Joost, Kairit; Nampoothiri, Sheela; Yesodharan, Dhanya; Mandel, Hanna; Kimball, Amy; Kline, Antonie D; Mignot, Cyril; Keren, Boris; Laugel, Vincent; Õunap, Katrin; Devadathan, Kalpana; van Berkestijn, Frederique M C; Silwal, Arpana; Koene, Saskia; Verma, Sumit; Karim, Mohammed Yousuf; Boubidi, Chahynez; Aziz, Majid; ElGhazali, Gehad; Mattas, Lauren; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Alavi, Shahryar; Nouri, Nayereh; Noruzinia, Mehrdad; Kavousi, Saeideh; Kamath, Arveen; Jayawant, Sandeep; Saneto, Russell; Haridy, Nourelhoda A; Kart, Pinar Ozkan; Cansu, Ali; Joubert, Madeleine; Beneteau, Claire; Stuurman, Kyra E; Wilke, Martina; Barakat, Tahsin Stefan; Tajsharghi, Homa; Scardamaglia, Annarita; Vallian, Sadeq; Hız, Semra; Shoeibi, Ali; Boostani, Reza; Hashemi, Narges; Babaei, Meisam; Alsaleh, Norah Saleh; Porter, Julie; Attié-Bitach, Tania; Marzin, Pauline; Wicher, Dorota; Gold, Jessica I; Schuler, Elisabeth; Kashgari, Amna; Alanazi, Rakan F; Eyaid, Wafaa; Engelen, Marc; Langeveld, Mirjam; Stüve, Burkhard; Li, Yun; Yigit, Gökhan; Wollnik, Bernd; Monje, Mariana H G; Krainc, Dimitri; Mencacci, Niccolò E; Bakhtiari, Somayeh; Kruer, Michael; Argilli, Emanuela; Sherr, Elliott; Jamshidi, Yalda; Karimiani, Ehsan Ghayoor; Cheung, Yiu Wing Sunny; Karin, Ivan; Zifarelli, Giovanni; Bauer, Peter; Chung, Wendy K; Lupski, James R; Kurian, Manju A; Dötsch, Jörg; von Kleist-Retzow, Jürgen-Christoph; Klopstock, Thomas; Wagner, Matias; Yip, Calvin; Roos, Andreas; Carsetti, Rita; Dionisi-Vici, Carlo; Gautel, Mathias; Duchen, Michael R; Antebi, Adam; Houlden, Henry; Fanto, Manolis; Jungbluth, Heinz

Double-negative B cells and DNASE1L3 colocalise with microbiota in gut-associated lymphoid tissue

双阴性B细胞和DNASE1L3与肠道相关淋巴组织中的微生物群共定位

Lucia Montorsi # ,Michael J Pitcher # ,Yuan Zhao ,Chiara Dionisi ,Alicia Demonti ,Thomas J Tull ,Pawan Dhami ,Richard J Ellis ,Cynthia Bishop ,Jeremy D Sanderson ,Sahil Jain ,David D'Cruz ,Deena L Gibbons ,Thomas H Winkler ,Mats Bemark ,Francesca D Ciccarelli ,Jo Spencer

Ketogenic Diet and Progression of Kidney Disease in Animal Models of Nephropathic Cystinosis.

生酮饮食与肾病性胱氨酸病动物模型肾脏疾病进展的关系

Bellomo Francesco, Pugliese Sara, Cairoli Sara, Krohn Patrick, De Stefanis Cristiano, Raso Roberto, Rega Laura Rita, Taranta Anna, De Leo Ester, Ciolfi Andrea, Cicolani Nicolò, Petrini Stefania, Luciani Alessandro, Goffredo Bianca Maria, Porzio Ottavia, Devuyst Olivier, Dionisi-Vici Carlo, Emma Francesco