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N

Neringa Jurkutė

University of London
H指数:25
被引数:2,651

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Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial
2024-03-015
OAAI
Childhood-Onset Leber Hereditary Optic Neuropathy-Clinical and Prognostic Insights
2023-05-0112
OAAI
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies

多学科团队指导的全基因组测序分析揭示了分子未确诊的遗传性视网膜营养不良的致病非编码变异

2022-09-0912
OAAI
WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression
2022-09-0112
OAAI
Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model
2021-07-2012
OAAI
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy
2021-04-0725
OAAI
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom

来自英国的3000多个家庭的分子特征队列中遗传性视网膜疾病的遗传基础

2020-10-01136
OAAI
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy
2020-06-0132
OAAI