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

International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives

NKX2-1相关疾病国际注册研究:临床、遗传和影像学视角

Nou-Fontanet, Laia; Ravelli, Claudia; Burglen, Lydie; Balsells Mejia, Sol; Valls-Villalba, Angel; Schiffels, Elies Roman; Innocenti, Alice; Villafuerte, Beatriz; Salazar-Villacorta, Ainara; Quiroz, Vicente; Sariego Jamardo, Andrea; Bonato, Giulia; Díaz-Gomez, Asun; Afenjar, Alexandra; Vilain, Catheline; da Silva Möller, Patricia Dumke; Garcia-Navas Nuñez, Deyanira; Krygier, Magdalena; Molnar, Maria Judit; Milanowski, Łukasz; Õunap, Katrin; Pauni, Micaela; Vega, Patricia; Borie, Raphael; Villamil-Osorio, Milena; Yilmaz, Sanem; Zádori, Dénes; Zawadzka, Marta; Barakat, Tahsin Stefan; Neuens, Sebastian; de Natera-de Benito, Daniel; Casas-Alba, Dídac; Soliani, Luca; de Gusmao, Claudio M; Garone, Giacomo; Specchio, Nicola; Carecchio, Miryam; Moreno, José C; Magrinelli, Francesca; Bhatia, Kailash P; Ebrahimi-Fakhari, Darius; Castiglioni, Claudia; Kurian, Manju Ann; Carvalho, João Nuno; Pons, Roser; Roze, Emmanuel; Doummar, Diane; Ortigoza-Escobar, Juan Darío

Expanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort

扩展SPG7罕见致病变异的表型谱:来自匈牙利队列的启示

Jimoh, Idris Janos; Balicza, Peter; Szlepak, Tamas; Csaban, Dora; Gal, Aniko; Geresi, Adrienn; Grosz, Zoltan; Palasti, Agnes; Boczan, Judit; Klivenyi, Peter; Molnar, Maria Judit

Mitochondrial DNA Deletions and Plasma GDF-15 Protein Levels Are Linked to Hormonal Dysregulation and Multi-Organ Involvement in Female Reproductive Endocrine Disorders

线粒体DNA缺失和血浆GDF-15蛋白水平与女性生殖内分泌疾病中的激素失调和多器官受累有关

Varhegyi, Vera; Banfi, Barnabas; Trager, Domonkos; Gerszi, Dora; Horvath, Eszter Maria; Sipos, Miklos; Acs, Nandor; Molnar, Maria Judit; Varbiro, Szabolcs; Gal, Aniko

Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group

原发性线粒体疾病患者癫痫发作的管理:InterERNs 线粒体工作组共识声明

Mancuso, Michelangelo; Papadopoulou, Maria T; Ng, Yi Shiau; Ardissone, Anna; Bellusci, Marcello; Bertini, Enrico; Di Vito, Lidia; Evangelista, Teresinha; Fons, Carmen; Hikmat, Omar; Horvath, Rita; Klopstock, Thomas; Kornblum, Cornelia; Lamperti, Costanza; Licchetta, Laura; Molnar, Maria Judit; Varhaug, Kristin N; O'Callaghan, Mar; Pressler, Ronit M; Schiff, Manuel; Servidei, Serenella; Szabo, Nora; Gorman, Gráinne S; Cross, J Helen; Rahman, Shamima

Essential components of an effective transition from paediatric to adult neurologist care for adolescents with Duchenne muscular dystrophy; a consensus derived using the Delphi methodology in Eastern Europe, Greece and Israel

杜氏肌营养不良症青少年从儿科神经科医生护理有效过渡到成人神经科医生护理的关键要素:一项在东欧、希腊和以色列采用德尔菲法达成的共识

Molnar, Maria Judit; Szabó, Léna; Vladacenco, Oana Aurelia; Cobzaru, Ana Maria; Dor, Talya; Dori, Amir; Papadimas, Georgios; Juříková, Lenka; Litvinenko, Ivan; Tournev, Ivailo; Dixon, Craig

Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial

依拉米普瑞肽对原发性线粒体肌病患者的基因型特异性效应:MMPOWER-3试验的事后分析

Karaa, Amel; Bertini, Enrico; Carelli, Valerio; Cohen, Bruce; Ennes, Gregory M; Falk, Marni J; Goldstein, Amy; Gorman, Gráinne; Haas, Richard; Hirano, Michio; Klopstock, Thomas; Koenig, Mary Kay; Kornblum, Cornelia; Lamperti, Costanza; Lehman, Anna; Longo, Nicola; Molnar, Maria Judit; Parikh, Sumit; Phan, Han; Pitceathly, Robert D S; Saneto, Russekk; Scaglia, Fernando; Servidei, Serenella; Tarnopolsky, Mark; Toscano, Antonio; Van Hove, Johan L K; Vissing, John; Vockley, Jerry; Finman, Jeffrey S; Abbruscato, Anthony; Brown, David A; Sullivan, Alana; Shiffer, James A; Mancuso, Michelango

17-Oxime ethers of oxidized ecdysteroid derivatives modulate oxidative stress in human brain endothelial cells and dose-dependently might protect or damage the blood-brain barrier

氧化蜕皮类固醇衍生物的 17-肟醚可调节人脑内皮细胞的氧化应激,并且可能以剂量依赖性的方式保护或损害血脑屏障

Máté Vágvölgyi, Dávid Laczkó, Ana Raquel Santa-Maria, Judit P Vigh, Fruzsina R Walter, Róbert Berkecz, Mária A Deli, Gábor Tóth, Attila Hunyadi

The improvement of motor symptoms in Huntington's disease during cariprazine treatment

卡利拉嗪治疗期间亨廷顿病运动症状的改善

Csehi, Reka; Molnar, Viktor; Fedor, Mariann; Zsumbera, Vivien; Palasti, Agnes; Acsai, Karoly; Grosz, Zoltan; Nemeth, Gyorgy; Molnar, Maria Judit

How to approach a neurogenetics diagnosis in different European countries: The European Academy of Neurology Neurogenetics Panel survey

欧洲各国如何进行神经遗传学诊断:欧洲神经病学学会神经遗传学专家组调查

Mancuso, Michelangelo; Houlden, Henry; Molnar, Maria Judit; Filla, Alessandro; Breza, Marianthi; Graessner, Holm; Bassetti, Claudio L A; Boesch, Sylvia

Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease

匈牙利庞贝病患者GAA基因型与酸性α-葡萄糖苷酶活性的相关性

Gal, Aniko; Grosz, Zoltán; Borsos, Beata; Szatmari, Ildikó; Sebők, Agnes; Jávor, Laszló; Harmath, Veronika; Szakszon, Katalin; Dezsi, Livia; Balku, Eniko; Jobbagy, Zita; Herczegfalvi, Agnes; Almássy, Zsuzsanna; Kerényi, Levente; Molnar, Maria Judit