Cox Mary O相关文献与解析，生知库 | 链接生命科学的每一步

日期影响因子

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

发表日期：2025

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Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene

由FKRP基因中一种新型复杂插入/重复变异引起的肢带型肌营养不良症R9

期刊:Child Neurology Open

doi:10.1177/2329048X221097518

Willis, Erin; Moore, Steven A; Cox, Mary O; Stefans, Vikki; Aravindhan, Akilandeswari; Gokden, Murat; Veerapandiyan, Aravindhan

发表日期：2022

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A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy

一种与早发性肢带型肌营养不良症相关的新型非编码FKRP突变

期刊:Neurology-Genetics

影响因子:3.7

doi:10.1212/NXG.0000000000000388

Saylam, Ezgi; Moore, Steven A; Aravindhan, Akilandeswari; Marton, Heather; Nagy, Peter L; Gokden, Murat; Cox, Mary O; Stefans, Vikki; Veerapandiyan, Aravindhan

发表日期：2020

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TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy

TRAPPC11 和 GOSR2 基因突变与 α-肌营养不良蛋白聚糖的糖基化不足和肌营养不良症相关。

期刊:Skeletal Muscle

影响因子:4.4

doi:10.1186/s13395-018-0163-0

Larson, Austin A; Baker, Peter R 2nd; Milev, Miroslav P; Press, Craig A; Sokol, Ronald J; Cox, Mary O; Lekostaj, Jacqueline K; Stence, Aaron A; Bossler, Aaron D; Mueller, Jennifer M; Prematilake, Keshika; Tadjo, Thierry Fotsing; Williams, Charles A; Sacher, Michael; Moore, Steven A

发表日期：2018

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GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation

GMPPB相关肌营养不良蛋白病：表型相关性的新兴常见变异

期刊:Human Mutation

影响因子:3.7

doi:10.1002/humu.22898

Jensen, Braden S; Willer, Tobias; Saade, Dimah N; Cox, Mary O; Mozaffar, Tahseen; Scavina, Mena; Stefans, Vikki A; Winder, Thomas L; Campbell, Kevin P; Moore, Steven A; Mathews, Katherine D

发表日期：2015

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Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27

贝克尔肌营养不良症家族中早期进行性扩张型心肌病与肌营养不良蛋白基因第27外显子中的一种新型移码突变有关

期刊:Journal of Human Genetics

影响因子:2.5

doi:10.1038/jhg.2014.112

Tsuda, Takeshi; Fitzgerald, Kristi; Scavena, Mena; Gidding, Samuel; Cox, Mary O; Marks, Harold; Flanigan, Kevin M; Moore, Steven A

发表日期：2015

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