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

A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people

一种由COL4A4致病变异引起的常染色体隐性遗传性阿尔波特综合征是罗姆人中大多数遗传性肾衰竭的病因。

期刊:Frontiers in Medicine
影响因子:3
doi:10.3389/fmed.2023.1096869
Plevova, Pavlina; Indrakova, Jana; Savige, Judy; Kuhnova, Petra; Tvrda, Petra; Cerna, Dita; Hilscherova, Sarka; Kudrejova, Monika; Polendova, Daniela; Jaklova, Radka; Langova, Martina; Jahnova, Helena; Lastuvkova, Jana; Dusek, Jiri; Gut, Josef; Vlckova, Marketa; Solarova, Pavla; Kreckova, Gabriela; Kantorova, Eva; Soukalova, Jana; Slavkovsky, Rastislav; Zapletalova, Jana; Tichy, Tomas; Thomasova, Dana
COL
发表日期：2023
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Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)

C型尼曼匹克病患者的临床疾病特征：来自国际尼曼匹克病登记处（INPDR）的发现

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-022-02200-4
Bolton, Shaun C; Soran, Vina; Marfa, Mercedes Pineda; Imrie, Jackie; Gissen, Paul; Jahnova, Helena; Sharma, Reena; Jones, Simon; Santra, Saikat; Crushell, Ellen; Stampfer, Miriam; Coll, Maria Jose; Dawson, Charlotte; Mathieson, Toni; Green, James; Dardis, Andrea; Bembi, Bruno; Patterson, Marc C; Vanier, Marie T; Geberhiwot, Tarekegn
发表日期：2022
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Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?

患有 Kearns-Sayre 综合征和角膜内皮衰竭的患者是否应该进行 TCF4 三核苷酸重复基因分型，该基因通常与 Fuchs 内皮角膜营养不良相关？

期刊:Genes
影响因子:2.8
doi:10.3390/genes12121918
Dudakova, Lubica; Skalicka, Pavlina; Davidson, Alice E; Sadan, Amanda N; Chylova, Monika; Jahnova, Helena; Anteneova, Nicole; Tesarova, Marketa; Honzik, Tomas; Liskova, Petra
发表日期：2021
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Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational study

接受米格鲁司他治疗的尼曼-匹克病C型患者的长期生存结局：一项大型回顾性观察研究

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.12245
Patterson, Marc C; Garver, William S; Giugliani, Robert; Imrie, Jackie; Jahnova, Helena; Meaney, F John; Nadjar, Yann; Vanier, Marie T; Moneuse, Patrick; Morand, Olivier; Rosenberg, Daniel; Schwierin, Barbara; Héron, Benedicte
发表日期：2020
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Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations

皮肤成纤维细胞中的转录本、蛋白质、代谢物和细胞研究表明 NPC1 突变具有不同的致病影响

期刊:Orphanet Journal of Rare Diseases
影响因子:3.4
doi:10.1186/s13023-020-01360-5
Dita Musalkova, Filip Majer, Ladislav Kuchar, Ondrej Luksan, Befekadu Asfaw, Hana Vlaskova, Gabriela Storkanova, Martin Reboun, Helena Poupetova, Helena Jahnova, Helena Hulkova, Jana Ledvinova, Lenka Dvorakova, Jakub Sikora, Milan Jirsa, Marie T Vanier, Martin Hrebicek
代谢
成纤维细胞
发表日期：2020
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Impact of interleukin 13 (IL13) genetic polymorphism Arg130Gln on total serum immunoglobulin (IgE) levels and interferon (IFN)-γ gene expression

白细胞介素13 (IL13) 基因多态性Arg130Gln对血清总免疫球蛋白(IgE)水平和干扰素(IFN)-γ基因表达的影响

期刊:Clinical and Experimental Immunology
影响因子:3.8
doi:10.1111/cei.12923
Smolkova, B; Tulinska, J; Palkovicova Murinova, L; Buocikova, V; Liskova, A; Rausova, K; Kuricova, M; Patayova, H; Sustrova, M; Neubauerova Svorcova, E; Ilavska, S; Szabova, M; Nemessanyi, T; Jahnova, E; Dusinska, M; Ciznar, P; Fuortes, L
细胞生物学
IL13
免疫/内分泌
发表日期：2017
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Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years

捷克共和国一项针对大量尼曼-匹克病C型患者进行的回顾性观察研究：近40年来诊断率出人意料地稳定

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-014-0140-6
Jahnova, Helena; Dvorakova, Lenka; Vlaskova, Hana; Hulkova, Helena; Poupetova, Helena; Hrebicek, Martin; Jesina, Pavel
发表日期：2014
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