Ma M - Search Results

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7,919 results

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Clinical and Genetic Features of Chinese Patients With NIPA1-Related Hereditary Spastic Paraplegia Type 6.

Fu J, Ma M, Li G, Zhang J. Fu J, et al. Among authors: ma m. Front Genet. 2022 Apr 8;13:859688. doi: 10.3389/fgene.2022.859688. eCollection 2022. Front Genet. 2022. PMID: 35464835 Free PMC article.

Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement.

Fu J, Ma M, Song J, Pang M, Yang L, Li G, Zhang J. Fu J, et al. Among authors: ma m. Clin Genet. 2019 Dec;96(6):590-591. doi: 10.1111/cge.13634. Epub 2019 Aug 30. Clin Genet. 2019. PMID: 31469168 No abstract available.

[Analysis of a pedigree with autosomal dominant intermediate Charcot-Marie-Tooth disease type E and nephropathy].

Fu J, Ma M, Pang M, Yang L, Li G, Song J, Zhang J. Fu J, et al. Among authors: ma m. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Sep 10;36(9):918-921. doi: 10.3760/cma.j.issn.1003-9406.2019.09.016. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31515790 Chinese.

BAG3 p.Pro209Ser mutation identified in a Chinese family with Charcot-Marie-Tooth disease.

Fu J, Ma M, Song J, Pang M, Li G, Zhang J. Fu J, et al. Among authors: ma m. J Neurol. 2020 Apr;267(4):1080-1085. doi: 10.1007/s00415-019-09680-8. Epub 2019 Dec 18. J Neurol. 2020. PMID: 31853710

Lower limb muscle magnetic resonance imaging in Chinese patients with myotonic dystrophy type 1.

Song J, Fu J, Ma M, Pang M, Li G, Gao L, Zhang J. Song J, et al. Among authors: ma m. Neurol Res. 2020 Feb;42(2):170-177. doi: 10.1080/01616412.2020.1716494. Epub 2020 Jan 17. Neurol Res. 2020. PMID: 31951783

[Analysis of a pedigree with distal hereditary motor neuropathy type 2A caused by mutation in HSPB8 gene].

Li G, Fu J, Pang M, Song J, Ma M, Zhang J. Li G, et al. Among authors: ma m. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jun 10;39(6):621-624. doi: 10.3760/cma.j.cn511374-20210528-00450. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35773767 Chinese.

Broadening the phenotype of m.5703G>A mutation in mitochondrial tRNAAsn gene from mitochondrial myopathy to myoclonic epilepsy with ragged red fibers syndrome.

Fu J, Ma MM, Pang M, Yang L, Li G, Song J, Zhang JW. Fu J, et al. Among authors: ma mm. Chin Med J (Engl). 2019 Apr 5;132(7):865-867. doi: 10.1097/CM9.0000000000000151. Chin Med J (Engl). 2019. PMID: 30897601 Free PMC article. No abstract available.

Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease.

He J, Liu XX, Ma MM, Lin JJ, Fu J, Chen YK, Xu GR, Xu LQ, Fu ZF, Xu D, Chen WF, Cao CY, Shi Y, Zeng YH, Zhang J, Chen XC, Zhang RX, Wang N, Kennerson M, Fan DS, Chen WJ. He J, et al. Among authors: ma mm. Ann Neurol. 2023 Feb;93(2):244-256. doi: 10.1002/ana.26501. Epub 2022 Sep 28. Ann Neurol. 2023. PMID: 36088542

Spreading of TDP-43 pathology via pyramidal tract induces ALS-like phenotypes in TDP-43 transgenic mice.

Ding X, Xiang Z, Qin C, Chen Y, Tian H, Meng L, Xia D, Liu H, Song J, Fu J, Ma M, Wang X. Ding X, et al. Among authors: ma m. Acta Neuropathol Commun. 2021 Jan 18;9(1):15. doi: 10.1186/s40478-020-01112-3. Acta Neuropathol Commun. 2021. PMID: 33461623 Free PMC article.

Changes in the Morphology, Number, and Protein Levels of Plasma Exosomes in CADASIL Patients.

Gao D, Shang J, Sun R, Shi Y, Jiang H, Ma M, Zhang J. Gao D, et al. Among authors: ma m. J Alzheimers Dis. 2021;81(1):221-229. doi: 10.3233/JAD-210101. J Alzheimers Dis. 2021. PMID: 33749657

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