Gao M - Search Results

1

Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy.

Gu X, Yu J, Jiao K, Deng J, Xia X, Qiao K, Yue D, Gao M, Zhao C, Dong J, Huang G, Shan J, Yan C, Di L, Da Y, Zhu W, Xi J, Wang Z. Gu X, et al. Among authors: gao m. J Med Genet. 2024 Mar 21;61(4):340-346. doi: 10.1136/jmg-2023-109345. J Med Genet. 2024. PMID: 37923380

2

New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure.

Yue D, Gao M, Zhu W, Luo S, Xi J, Wang B, Li Y, Cai S, Li J, Wang Y, Lu J, Zhao C. Yue D, et al. Among authors: gao m. Neuromuscul Disord. 2015 Feb;25(2):172-6. doi: 10.1016/j.nmd.2014.11.005. Epub 2014 Nov 18. Neuromuscul Disord. 2015. PMID: 25500009

3

Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment, proximal myopathy, seizure, and severe leukoencephalopathy: A case report and protein analysis.

Ding M, Wang X, Zeng Y, Lu Z, Cai S, Gao M, Zhu W, Luo S, Zhao C, Xiao Z. Ding M, et al. Among authors: gao m. Clin Neuropathol. 2019 May/Jun;38(3):100-108. doi: 10.5414/NP301137. Clin Neuropathol. 2019. PMID: 30900984

4

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes.

Sun C, Song J, Jiang Y, Zhao C, Lu J, Li Y, Wang Y, Gao M, Xi J, Luo S, Li M, Donaldson K, Oprescu SN, Slavin TP, Lee S, Magoulas PL, Lewis AM, Emrick L, Lalani SR, Niu Z, Landsverk ML, Walkiewicz M, Person RE, Mei H, Rosenfeld JA, Yang Y, Antonellis A, Hou YM, Lin J, Zhang VW. Sun C, et al. Among authors: gao m. Neurol Genet. 2019 Apr 18;5(2):e565. doi: 10.1212/NXG.0000000000000316. eCollection 2019 Apr. Neurol Genet. 2019. PMID: 31192300 Free PMC article.

5

Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy.

Cai S, Gao M, Xi J, Liu Z, Yue D, Wu H, Bi H, Li J, Liang Z, Zhao C, Udd B, Luo S, Lu J. Cai S, et al. Among authors: gao m. Neuromuscul Disord. 2019 Aug;29(8):628-633. doi: 10.1016/j.nmd.2019.06.005. Epub 2019 Jun 12. Neuromuscul Disord. 2019. PMID: 31350120

6

Melkerson-Rosenthal syndrome complicated by inflammatory myopathy.

Zheng Y, Gong L, Zhou L, Gao M, Qiao K, Lin J, Zhu W, Zhao C. Zheng Y, et al. Among authors: gao m. Muscle Nerve. 2022 Jul;66(1):E2-E4. doi: 10.1002/mus.27568. Epub 2022 May 14. Muscle Nerve. 2022. PMID: 35485324 No abstract available.

7

Early respiratory muscle involvement in LGMDR25: a case report.

Cheng N, Gao M, Jiao K, Yue D, Xu Y, Zhao C, Lu J, Zhu W. Cheng N, et al. Among authors: gao m. Neuromuscul Disord. 2022 Aug;32(8):692-696. doi: 10.1016/j.nmd.2022.05.007. Epub 2022 May 17. Neuromuscul Disord. 2022. PMID: 35718670

8

A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review.

Chen H, Sun C, Zheng Y, Yin J, Gao M, Zhao C, Lin J. Chen H, et al. Among authors: gao m. BMC Neurol. 2023 Jun 30;23(1):250. doi: 10.1186/s12883-023-03260-0. BMC Neurol. 2023. PMID: 37391745 Free PMC article. Review.

9

Intrafamilial phenotypic heterogeneity in GIPC1-related oculopharyngodistal myopathy type 2: a case report.

Gu X, Jiao K, Yue D, Wang X, Qiao K, Gao M, Lin J, Sun C, Zhao C, Zhu W, Xi J. Gu X, et al. Among authors: gao m. Neuromuscul Disord. 2023 Sep;33(9):93-97. doi: 10.1016/j.nmd.2023.07.002. Epub 2023 Jul 7. Neuromuscul Disord. 2023. PMID: 37550168

10

Diagnostic delay in late-onset Pompe disease among Chinese patients: A retrospective study.

Yue D, Jiao K, Xia X, Zhang J, Zhu B, Liu L, Du K, Gao M, Cheng N, Wang N, Luo S, Xi J, Lu J, Zhao C, Zhu W. Yue D, et al. Among authors: gao m. JIMD Rep. 2023 Dec 20;65(1):39-46. doi: 10.1002/jmd2.12404. eCollection 2024 Jan. JIMD Rep. 2023. PMID: 38186848 Free PMC article.

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