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

Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic Atrophy

ACO2相关显性视神经萎缩的临床和遗传谱

Beaulieu, Cléis; Bouzidi, Aymane; Desquiret-Dumas, Valérie; Dieu, Xavier; Makam, Rahul; Jurkute, Neringa; Vignal, Catherine; Philibert, Manon; Odent, Sylvie; Zanlonghi, Xavier; Latypov, Marie; Debourdeau, Eloi; Bocquet, Béatrice; Yahia, Raihane; Pons, Linda; Villard, Frédéric Pollet; Jeanjean, Luc; Verrecchia, Sarah; Froment, Caroline; Engel, Camille; Poirsier, Céline; Arndt, Carl; Dollfus, Hélène; Gohier, Philippe; Charif, Majida; Ferré, Marc; Prunier-Mirebeau, Delphine; Meunier, Isabelle; Yu-Wai-Man, Patrick; Amati-Bonneau, Patrizia; Lenaers, Guy; Smirnov, Vasily

Leber Hereditary Optic Neuropathy Caused by the Rare MT-ND1 m.3394T>C Mutation: A Case With Favorable Visual Prognosis and a Literature Review

由罕见的MT-ND1 m.3394T>C突变引起的Leber遗传性视神经病变:一例预后良好的病例报告及文献综述

Mikulenaite, Paulina; Vilkeviciute, Alvita; Stramkauskaite, Almina; Povilaityte, Ieva; Jurkute, Neringa; Liutkeviciene, Rasa

Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype

PRX基因最后一个内含子异常剪接导致显性先天性白内障,但无神经系统表型

Reis, Linda M; Bellingham, James; Motta, Fabiana Louise; Jurkute, Neringa; Raskin, Salmo; Ramos, Fabiana; Mahroo, Omar A; Moosajee, Mariya; Arno, Gavin; Semina, Elena V

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.

双等位基因 NSUN3 变异导致多种表型谱疾病:从孤立性视神经萎缩到严重的早发性线粒体疾病

Jurkute Neringa, Brennenstuhl Heiko, Kustermann Monika, Van Haute Lindsey, Mutti Christian D, Bugiardini Enrico, Handa Takayuki, Shimura Masaru, Petzold Axel, Acheson James, Robson Anthony G, Macken William L, Hanna Michael G, Pitceathly Robert D S, Merve Ashirwad, Kotzaeridou Urania, Kölker Stefan, Freilinger Michael, Erdler Marcus, Bittner Reginald E, Mayr Johannes A, Okazaki Yasushi, Murayama Kei, Prokisch Holger, Webster Andrew R, Minczuk Michal, Arno Gavin, Pemp Berthold, Hoffmann Georg F, Schmidt Wolfgang M, Yu-Wai-Man Patrick

Neuroretinal structure changes in infantile nephropathic cystinosis

婴儿肾病性胱氨酸病的神经视网膜结构改变

Keidel, Leonie Franziska; Jurkute, Neringa; Schworm, Benedikt; Hohenfellner, Katharina; Priglinger, Siegfried; Petzold, Axel; Priglinger, Claudia

Diagnostic Value of Inter-Eye Difference Metrics on OCT for Myelin Oligodendrocyte Glycoprotein Antibody-Associated Optic Neuritis

光学相干断层扫描(OCT)双眼差异指标在髓鞘少突胶质细胞糖蛋白抗体相关性视神经炎诊断中的价值

Volpe, Giulio; Jurkute, Neringa; Girafa, Gabriela; Zimmermann, Hanna G; Motamedi, Seyedamirhosein; Bereuter, Charlotte; Pandit, Lekha; D'Cunha, Anitha; Yeaman, Michael R; Smith, Terry J; Cook, Lawrence J; Brandt, Alexander U; Paul, Friedemann; Petzold, Axel; Oertel, Frederike C

Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort

英国大型分子特征队列中导致遗传性视网膜疾病的最常见基因的遗传变异谱

Lin, Siying; Vermeirsch, Sandra; Pontikos, Nikolas; Martin-Gutierrez, Maria Pilar; Daich Varela, Malena; Malka, Samantha; Schiff, Elena; Knight, Hannah; Wright, Genevieve; Jurkute, Neringa; Simcoe, Mark J; Yu-Wai-Man, Patrick; Moosajee, Mariya; Michaelides, Michel; Mahroo, Omar A; Webster, Andrew R; Arno, Gavin

Investigating Splice Defects in USH2A Using Targeted Long-Read Sequencing

利用靶向长读长测序技术研究USH2A中的剪接缺陷

Chandrasekhar, Shwetha; Lin, Siying; Jurkute, Neringa; Oprych, Kathryn; Estramiana Elorrieta, Leire; Schiff, Elena; Malka, Samantha; Wright, Genevieve; Michaelides, Michel; Mahroo, Omar A; Webster, Andrew R; Arno, Gavin

Electrodiagnostic tests of the visual pathway and applications in neuro-ophthalmology

视觉通路电诊断测试及其在神经眼科学中的应用

Calcagni, Antonio; Neveu, Magella M; Jurkute, Neringa; Robson, Anthony G

Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 Mutation

Lenadogene Nolparvovec基因治疗与自然病程在携带m.11778G>A MT-ND4突变的Leber遗传性视神经病变患者中的间接比较

Carelli, Valerio; Newman, Nancy J; Yu-Wai-Man, Patrick; Biousse, Valerie; Moster, Mark L; Subramanian, Prem S; Vignal-Clermont, Catherine; Wang, An-Guor; Donahue, Sean P; Leroy, Bart P; Sergott, Robert C; Klopstock, Thomas; Sadun, Alfredo A; Rebolleda Fernández, Gema; Chwalisz, Bart K; Banik, Rudrani; Girmens, Jean François; La Morgia, Chiara; DeBusk, Adam A; Jurkute, Neringa; Priglinger, Claudia; Karanjia, Rustum; Josse, Constant; Salzmann, Julie; Montestruc, François; Roux, Michel; Taiel, Magali; Sahel, José-Alain