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

From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1

从分子到意义：GM1中的神经病变生物标志物及其临床意义

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.70134
Casazza, Krista; Giugliani, Roberto; Regier, Debra S; Jarnes, Jeanine
发表日期：2026
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Addressing the Multisystemic Impacts of Nephropathic Cystinosis in an Adult

探讨成人肾病性胱氨酸病的多系统影响

期刊:Kidney International Reports
影响因子:5.7
doi:10.1016/j.ekir.2024.10.039
Jarnes, Jeanine R; Palmer, Rebekah S; Whitley, Chester B
发表日期：2025
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Biomarker Validation in NPC1: Foundations for Clinical Trials and Regulatory Alignment

NPC1中的生物标志物验证：临床试验和监管协调的基础

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.70075
Casazza, Krista; Cologna, Stephanie M; Berry-Kravis, Elizabeth; Jarnes, Jeanine; Porter, Forbes D
NPC1
发表日期：2025
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Dose-intensive therapy (DIT) for infantile Pompe disease: A pilot study

婴儿庞贝病剂量强化治疗（DIT）：一项初步研究

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2024.101179
Jarnes, Jeanine R; Pillai, Nishitha R; Ahmed, Alia; Shrestha, Sofia; Stark, Molly; Whitley, Chester B
发表日期：2025
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Phenotypic variability and the gender paradox in the R363C variant of Fabry disease

法布里病R363C变异体的表型变异性和性别悖论

期刊:JIMD Reports
影响因子:1.8
doi:10.1002/jmd2.12466
Leslie, Alison C; Jarnes, Jeanine; Ahmed, Alia; Shrestha, Sofia; Wang, Jeffrey; Whitley, Chester B; Pillai, Nishitha R
发表日期：2025
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Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease

定量脑形态测量学可识别晚发型泰-萨克斯病患者的小脑、皮质和皮质下灰质和白质萎缩

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.12700
Májovská, Jitka; Nestrašil, Igor; Ahmed, Alia; Bondy, Monica T; Klempíř, Jiří; Jahnová, Helena; Schneider, Susanne A; Horáková, Dana; Krásenský, Jan; Ješina, Pavel; Vaneckova, Manuela; Nascene, David R; Whitley, Chester B; Jarnes, Jeanine R; Magner, Martin; Dušek, Petr
神经科学
发表日期：2024
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GM1-gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat

GM1神经节苷脂沉积症：照护者对症状影响的评估以及最需要治疗的症状

期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.63038
Bingaman, Amanda; Waggoner, Christine; Andrews, Sara M; Pangonis, Diana; Trad, Marie; Giugliani, Roberto; Giorgino, Ruben; Jarnes, Jeanine; Vakili, Rojan; Ballard, Victoria; Peay, Holly L
发表日期：2023
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Identification of a novel fusion Iduronidase with improved activity in the cardiovascular system.

鉴定出一种在心血管系统中活性增强的新型融合艾杜糖醛酸酶

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2022.100917
Kim Sarah, Przybilla Michael J, Whitley Chester B, Ou Li, Al-Kofahi Mahmoud, Jarnes Jeanine R
心血管
发表日期：2022
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Chitotriosidase as a biomarker for gangliosidoses.

几丁质酶作为神经节苷脂沉积症的生物标志物

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2021.100803
Kim Sarah, Whitley Chester B, Jarnes Jeanine R
神经科学
发表日期：2021
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Examination of a blood-brain barrier targeting β-galactosidase-monoclonal antibody fusion protein in a murine model of GM1-gangliosidosis

在 GM1-神经节苷脂沉积症小鼠模型中检查针对 β-半乳糖苷酶-单克隆抗体融合蛋白的血脑屏障

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.8
doi:10.1016/j.ymgmr.2021.100748
Michael J Przybilla, Christine Stewart, Timothy W Carlson, Li Ou, Brenda L Koniar, Rohini Sidhu, Pamela J Kell, Xuntian Jiang, Jeanine R Jarnes, M Gerard O'Sullivan, Chester B Whitley
神经
血脑屏障
发表日期：2021
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