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

UDP-glucose dehydrogenase variants cause dystroglycanopathy.

UDP-葡萄糖脱氢酶变异体可导致肌营养不良蛋白病

期刊:Annals of Clinical and Translational Neurology
影响因子:3.9
doi:10.1002/acn3.70002
Reelfs Anna M, Stephan Carrie M, Czech Theresa M, Cox Mary O, Joseph Soumya, Darbro Benjamin W, Moore Steven A, Campbell Kevin P, Mathews Katherine D
其它
发表日期：2025
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Comparison of brain MRI findings with language and motor function in the dystroglycanopathies

肌营养不良症患者脑部MRI检查结果与语言和运动功能的比较

期刊:Neurology
影响因子:8.5
doi:10.1212/WNL.0000000000003609
Brun, Brianna N; Mockler, Shelley R H; Laubscher, Katie M; Stephan, Carrie M; Wallace, Anne M; Collison, Julia A; Zimmerman, M Bridget; Dobyns, William B; Mathews, Katherine D
神经科学
发表日期：2017
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Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I

儿童活动对肢带型肌营养不良症进展的影响 2I

期刊:Journal of Child Neurology
影响因子:1.6
doi:10.1177/0883073816677680
Brun, Brianna N; Mockler, Shelley R H; Laubscher, Katie M; Stephan, Carrie M; Collison, Julia A; Zimmerman, M Bridget; Mathews, Katherine D
发表日期：2017
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Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

肌营养不良症患者DMD突变谱：现代诊断技术在大样本队列中的应用

期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.21114
Flanigan, Kevin M; Dunn, Diane M; von Niederhausern, Andrew; Soltanzadeh, Payam; Gappmaier, Eduard; Howard, Michael T; Sampson, Jacinda B; Mendell, Jerry R; Wall, Cheryl; King, Wendy M; Pestronk, Alan; Florence, Julaine M; Connolly, Anne M; Mathews, Katherine D; Stephan, Carrie M; Laubenthal, Karla S; Wong, Brenda L; Morehart, Paula J; Meyer, Amy; Finkel, Richard S; Bonnemann, Carsten G; Medne, Livija; Day, John W; Dalton, Joline C; Margolis, Marcia K; Hinton, Veronica J; Weiss, Robert B
DMD
发表日期：2009
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