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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2022 | 1 |
2023 | 3 |
2024 | 3 |
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Page 1
Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies.
Orphanet J Rare Dis. 2024 Mar 14;19(1):123. doi: 10.1186/s13023-024-03128-7.
Orphanet J Rare Dis. 2024.
PMID: 38486238
Free PMC article.
Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants.
Xie Z, Sun C, Liu C, Xie Z, Wei L, Yu J, Ling C, Guo X, Liu Y, Yu M, Leng Y, Meng L, Sun Y, Deng J, Leal SM, Schrauwen I, Wang Z, Yuan Y.
Xie Z, et al.
J Neurol. 2023 Feb;270(2):925-937. doi: 10.1007/s00415-022-11432-0. Epub 2022 Nov 2.
J Neurol. 2023.
PMID: 36319768
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[Chinese guidelines on the diagnosis of dystrophinopathy].
Chinese Medical Association Rare Disease Branch; Beijing Medical Association Rare Disease Branch.
Chinese Medical Association Rare Disease Branch, et al.
Zhonghua Yi Xue Za Zhi. 2024 Mar 19;104(11):822-833. doi: 10.3760/cma.j.cn112137-20231217-01402.
Zhonghua Yi Xue Za Zhi. 2024.
PMID: 38378296
Chinese.
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A novel biomarker of fibrofatty replacement in dystrophinopathies identified by integrating transcriptome, magnetic resonance imaging, and pathology data.
Xie Z, Liu C, Sun C, Lu Y, Wu S, Liu Y, Wang Q, Wan Y, Wang Y, Yu M, Meng L, Deng J, Zhang W, Wang Z, Yang C, Yuan Y, Xie Z.
Xie Z, et al.
J Cachexia Sarcopenia Muscle. 2024 Feb;15(1):98-111. doi: 10.1002/jcsm.13410. Epub 2023 Dec 26.
J Cachexia Sarcopenia Muscle. 2024.
PMID: 38146684
Free PMC article.
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Cryptic exon activation caused by a novel deep-intronic splice-altering variant in Becker muscular dystrophy.
Xie Z, Lu Y, Liu C, Sun C, Yu J, Ling C, Luan X, Wang W, Wang L, Liang Y, Luo Q, Meng L, Wang Z, Yuan Y.
Xie Z, et al.
J Clin Lab Anal. 2023 Nov;37(21-22):e24987. doi: 10.1002/jcla.24987. Epub 2023 Nov 15.
J Clin Lab Anal. 2023.
PMID: 37968799
Free PMC article.
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