Lin P - Search Results

1

Development of differential diagnostic models for distinguishing between limb-girdle muscular dystrophy and idiopathic inflammatory myopathy.

Wang G, Fu L, Zhang L, Shao K, Hou Y, Dai T, Lin P, Yan C, Zhao B. Wang G, et al. Among authors: lin p. Arthritis Res Ther. 2024 Dec 19;26(1):215. doi: 10.1186/s13075-024-03458-8. Arthritis Res Ther. 2024. PMID: 39695751 Free PMC article.

2

Novel compound heterozygous mutations in the TTN gene: elongation and truncation variants causing limb-girdle muscular dystrophy type 2J in a Han Chinese family.

Wang G, Lv X, Xu L, Zhang R, Yan C, Lin P. Wang G, et al. Among authors: lin p. Neurol Sci. 2022 May;43(5):3427-3433. doi: 10.1007/s10072-022-05979-z. Epub 2022 Mar 3. Neurol Sci. 2022. PMID: 35239051

3

[Analysis of clinical features and genetic variants in three Chinese pedigrees affected with Limb girdle muscular dystrophy type 2I].

Wang G, Xu L, Zhao D, Yan C, Lin P. Wang G, et al. Among authors: lin p. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Nov 10;39(11):1205-1210. doi: 10.3760/cma.j.cn511374-20220107-00016. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 36317204 Chinese.

4

Distal myopathy due to TCAP variants in four unrelated Chinese patients.

Lv X, Gao F, Dai T, Zhao D, Jiang W, Geng H, Liu F, Lin P, Yan C. Lv X, et al. Among authors: lin p. Neurogenetics. 2021 Mar;22(1):1-10. doi: 10.1007/s10048-020-00623-4. Epub 2020 Aug 6. Neurogenetics. 2021. PMID: 32761539

5

Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective.

Zhong H, Zheng Y, Zhao Z, Lin P, Xi J, Zhu W, Lin J, Lu J, Yu M, Zhang W, Lv H, Yan C, Hu J, Wang Z, Lu J, Zhao C, Yuan Y, Luo S. Zhong H, et al. Among authors: lin p, lin j. J Med Genet. 2021 Nov;58(11):729-736. doi: 10.1136/jmedgenet-2020-107159. Epub 2020 Sep 29. J Med Genet. 2021. PMID: 32994280

6

Clinical, pathological, and molecular genetic analysis of 7 Chinese patients with hereditary myopathy with early respiratory failure.

Lv X, Zhao B, Xu L, Jiang W, Dai T, Zhao D, Lin P, Yan C. Lv X, et al. Among authors: lin p. Neurol Sci. 2022 May;43(5):3371-3380. doi: 10.1007/s10072-021-05783-1. Epub 2021 Nov 28. Neurol Sci. 2022. PMID: 34839411

7

A female carrier of spinal and bulbar muscular atrophy diagnosed with DNAJB6-related distal myopathy.

Xu L, Geng H, Lv X, Wang G, Yan C, Zhang D, Lin P. Xu L, et al. Among authors: lin p. J Hum Genet. 2022 Jul;67(7):441-444. doi: 10.1038/s10038-022-01022-3. Epub 2022 Feb 15. J Hum Genet. 2022. PMID: 35165376

8

Somatic and germinal mosaicism in a Han Chinese family with laminopathies.

Wang G, Hou Y, Lv X, Yan C, Lin P. Wang G, et al. Among authors: lin p. Eur J Hum Genet. 2023 Sep;31(9):1073-1077. doi: 10.1038/s41431-022-01266-9. Epub 2022 Dec 16. Eur J Hum Genet. 2023. PMID: 36526864 Free PMC article.

9

The clinical features and TCAP mutation spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7.

Lv X, Lin F, Wu W, Wang H, Luo Y, Wang Z, Yan C, Lv H, Luo S, Lin P. Lv X, et al. Among authors: lin p, lin f. Hum Mol Genet. 2023 Jul 20;32(15):2502-2510. doi: 10.1093/hmg/ddad090. Hum Mol Genet. 2023. PMID: 37216648

10

Aberrant mRNA processing caused by splicing mutations in TTN-related neuromuscular disorders.

Wang G, Wu W, Lv X, Yan C, Lin P. Wang G, et al. Among authors: lin p. J Hum Genet. 2023 Nov;68(11):777-782. doi: 10.1038/s10038-023-01182-w. Epub 2023 Jul 5. J Hum Genet. 2023. PMID: 37407718

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