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

Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency

MCT8 缺乏症中多巴胺代谢改变及对左旋多巴/卡比多巴治疗的反应

Bruschi, Fabio; Vaia, Ylenia; Antonello, Clara E; Spada, Marco; Porta, Francesco; Marinaccio, Cristina; Carducci, Claudia; Opladen, Thomas; Sartorelli, Jacopo; Zibordi, Federica Maria; Ghezzi, Daniele; Nicita, Francesco; Tonduti, Davide

Genetic variability in the PLIN4 gene: A new sequence duplication causing autophagic vacuolar myopathy

PLIN4基因的遗传变异:一种新的序列重复导致自噬性空泡肌病

Carnazzi, Alessandra; Iannibelli, Eliana; Gibertini, Sara; Nicolini De Gaetano, Lucia; Riolo, Giorgia; Salerno, Franco; Legati, Andrea; Ghezzi, Daniele; Maggi, Lorenzo; Ruggieri, Alessandra

Plasma versus serum: which is better for proteomic blood biomarker analysis? Evaluation of the novel NULISA platform

血浆与血清:哪种更适合蛋白质组学血液生物标志物分析?新型NULISA平台的评估

Peymani, 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; Rötig, Agnés; Ryzhkova, Oxana; Schlein, Christian; Shagina, Olga; Takashima, Hiroshi; Tsygankova, Polina; Zech, Michael; Meitinger, Thomas; Shimura, Masaru; Murayama, Kei; Prokisch, Holger; Song, Yeunjoo E; Wang, Ping; Laux, Renee A; Fuzzell, Sarada L; Hochstetler, Sherri D; Miskimen, Kristy L; Lynn, Audrey; Wang, Weihuan; Liu, Yining; Moore, Noel C; Gulyayev, Alex V; Dorfsman, Daniel A; Caywood, Laura J; Clouse, Jason E; Herington, Sharlene D; Prough, Michael B; Slifer, Susan H; Adams, Larry D; Whitehead, Patrice G; Vance, Jeffery M; Cuccaro, Michael L; Ogrocki, Paula K; Lerner, Alan J; Pericak‐Vance, Margaret; Scott, William K; Bush, William S; Haines, Jonathan L; Griswold, Anthony J; Akinyemi, Rufus O; Rajabli, Farid; Ayele, Biniyam A; Coker, Motunrayo; Scott, Kyle M; Akinwande, Kazeem; Adams, Larry D; Diala, Samuel; Whitehead, Patrice G; McCauley, Jacob L; Ogunronbi, Mayowa; Hamilton‐Nelson, Kara L; Damasceno, Albertino; Zaman, Andrew F; Zewde, Yared Z; NJAMNSHI, Alfred Kongnyu; Caban‐Holt, Allison M; Ndetei, David; Sarfo, Fred Stephen; Akinyemi, Joshua O; Blanton, Susan H; Akpalu, Albert; Cuccaro, Michael L; Wahab, Kolawole; Gugssa, Seid Ali; McInerney, Katalina F; Obiako, Reginald; Baiyewu, Olusegun; Walker, Richard; Mena, Pedro R; Okubadejo, Njideka U; Martinez, Izri M; Kunkle, Brian W; Paddick, Stella‐Maria; Kalaria, Raj; Ogunniyi, Adesola; Vance, Jeffery M; Reitz, Christiane; Seshadri, Sudha; Guerchet, Maëlenn; Tosto, Giuseppe; Williams, Scott M; Bush, William S; Haines, Jonathan L; Byrd, Goldie S; Pericak‐Vance, Margaret; Farinas, Marissa F; Chen, Yijun; Zeng, Xuemei; Nafash, Michel N; Gogola, Alexandra; Kofler, Julia K; Tudorascu, Dana L; Shaaban, C Elizabeth; Lingler, Jennifer H; Pascoal, Tharick A; Klunk, William E; Villemagne, Victor L; Berman, Sarah B; Sweet, Robert; Kamboh, M Ilyas; Ikonomovic, Milos D; Snitz, Beth E; Cohen, Ann D; Lopez, Oscar L; Karikari, Thomas K

Vaginal Lactobacillus gasseri biosurfactant: a novel bio- and eco-compatible anti-Candida agent

阴道用加氏乳杆菌生物表面活性剂:一种新型的生物相容性和环境相容性抗念珠菌药物

Monti, Federica; Giordani, Barbara; Fedi, Stefano; Ghezzi, Daniele; Galletti, Paola; Mercolini, Laura; Mandrioli, Roberto; Parolin, Carola; Luppi, Barbara; Vitali, Beatrice

De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review

DNM1L致病性新发变异与致命性脑心肌病相关——病例报告及文献综述

Magistrati, Martina; Zupin, Luisa; Lamantea, Eleonora; Baruffini, Enrico; Ghezzi, Daniele; Legati, Andrea; Celsi, Fulvio; Murru, Flora Maria; Capaci, Valeria; Pinamonti, Maurizio; Bussani, Rossana; Carrozzi, Marco; Dallabona, Cristina; Zeviani, Massimo; Bonati, Maria Teresa

A De Novo DNM1L Mutation in Twins with Variable Symptoms, Including Paraparesis and Optic Neuropathy

一对双胞胎出现DNM1L基因新生突变,症状各异,包括截瘫和视神经病变

Nasca, Alessia; Catania, Alessia; Legati, Andrea; Izzo, Rossella; D'onofrio, Carola; Ciavattini, Teresa; Lamantea, Eleonora; Lamperti, Costanza; Ghezzi, Daniele

Microbial and Geochemical Variability in Sediments and Biofilms from Italian Gypsum Caves

意大利石膏洞穴沉积物和生物膜中的微生物和地球化学变异性

Martin-Pozas, Tamara; Ghezzi, Daniele; D'Angeli, Ilenia M; Madonia, Giuliana; Chiarini, Veronica; Vattano, Marco; De Waele, Jo; Cappelletti, Martina; Saiz-Jimenez, Cesareo; Jurado, Valme

Taxonomy and functional profile of microbial communities across the depths of the Alpine Cenote Abyss ice cave

阿尔卑斯山天坑深渊冰洞微生物群落的分类学和功能特征

Fedi, Stefano; Ghezzi, Daniele; Firrincieli, Andrea; Lopo, Ettore; Romeo, Alessio; Sauro, Francesco; Cappelletti, Martina

Intrafamilial Variability in WARS2-Related Disorder: A Family Case

WARS2相关疾病的家族内变异:一个家族病例

Graziola, Federica; Danti, Federica Rachele; Segre, Giorgia; Fregonese, Morgana; Izzo, Rossella; Lamantea, Eleonora; Ghezzi, Daniele; Ardissone, Anna; Zorzi, Giovanna

Amino acid supplementation in mitochondrial aminoacyl-tRNA synthetase defects: two case reports of tyrosine supplementation in YARS2-associated disease and a review of the literature

线粒体氨酰tRNA合成酶缺陷的氨基酸补充治疗:两例YARS2相关疾病酪氨酸补充治疗的病例报告及文献综述

Ferrera, Giulia; Segre, Giorgia; Lamantea, Eleonora; Ghezzi, Daniele; Rivelli, Marta; Ardissone, Anna