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

Myopathy due to a creatine deficiency disorder in a family of mixed breed dogs with a glycine amidinotransferase gene mutation

一家族混种犬因肌酸缺乏症导致肌病,该家族犬只携带甘氨酸脒基转移酶基因突变

Leonardi, Hugo; Minor, Katie M; Fritz, Julien; Friedenberg, Steven G; Cullen, Jonah N; Guo, Ling T; Shelton, G Diane

Dystrophin-Deficient Muscular Dystrophy in a Family of Shiba Inu Dogs with a Complex Deletion Encompassing DMD Exon 5

柴犬家族中患有肌营养不良蛋白缺乏型肌营养不良症,该家族携带包含DMD外显子5的复杂缺失。

Mcleay, Laura; Hardinge, Simone; Minor, Katie M; Friedenberg, Steven G; Cullen, Jonah N; Guo, Ling T; Shelton, G Diane

A CNTNAP1 Missense Variant Associated With Laryngeal Paralysis and Polyneuropathy in Young Great Dane Dogs

CNTNAP1错义变异与幼年大丹犬喉麻痹和多发性神经病相关

Shelton, G Diane; Carpentier, Missy C; Kimura, Y Michael; Guo, Ling T; Minor, Katie M

Variants in CLCN1 and PDE4C Associated with Muscle Hypertrophy, Dysphagia, and Gait Abnormalities in Young French Bulldogs

CLCN1 和 PDE4C 基因变异与幼年法国斗牛犬的肌肉肥大、吞咽困难和步态异常有关

Shelton, G Diane; Mickelson, James R; Friedenberg, Steven G; Cullen, Jonah N; Graham, Karina; Carpentier, Missy C; Guo, Ling T; Minor, Katie M

Precision medicine using whole genome sequencing identifies a novel dystrophin (DMD) variant for X-linked muscular dystrophy in a cat

利用全基因组测序的精准医疗技术在一只猫身上发现了一种与X连锁肌营养不良症相关的新型肌营养不良蛋白(DMD)变体。

Shelton, G Diane; Tucciarone, Fabrizio; Guo, Ling T; Coghill, Lyndon M; Lyons, Leslie A

Current Classification of Canine Muscular Dystrophies and Identification of New Variants

犬类肌营养不良症的当前分类及新变异体的鉴定

Shelton, G Diane; Minor, Katie M; Friedenberg, Steven G; Cullen, Jonah N; Guo, Ling T; Mickelson, James R

Novel COL6A3 frameshift variant in American Staffordshire Terrier dogs with Ullrich-like congenital muscular dystrophy

美国斯塔福郡梗犬中发现一种新型COL6A3移码变异,该变异与Ullrich样先天性肌营养不良症相关

Jankelunas, Leanne; Murthy, Vishal D; Chen, Annie V; Minor, Katie M; Friedenberg, Steven G; Cullen, Jonah N; Guo, Ling T; Mickelson, James R; Shelton, G Diane

An EHPB1L1 Nonsense Mutation Associated with Congenital Dyserythropoietic Anemia and Polymyopathy in Labrador Retriever Littermates

拉布拉多犬同窝幼犬中与先天性红细胞生成障碍性贫血和多发性肌病相关的EHPB1L1无义突变

Shelton, G Diane; Minor, Katie M; Guo, Ling T; Thomas-Hollands, Alison; Walsh, Koranda A; Friedenberg, Steven G; Cullen, Jonah N; Mickelson, James R

A Nonsense Variant in the DMD Gene Causes X-Linked Muscular Dystrophy in the Maine Coon Cat

DMD基因中的一个无义变异导致缅因猫患上X连锁肌营养不良症

Beckers, Evy; Cornelis, Ine; Bhatti, Sofie F M; Smets, Pascale; Shelton, G Diane; Guo, Ling T; Peelman, Luc; Broeckx, Bart J G

Congenital muscular dystrophy in a dog with a LAMA2 gene deletion

患有先天性肌营养不良症的犬只,其LAMA2基因缺失

Shelton, G Diane; Minor, Katie M; Thomovsky, Stephanie; Guo, Ling T; Friedenberg, Steven G; Cullen, Jonah N; Mickelson, James R