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POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.
Schindler RF, Scotton C, Zhang J, Passarelli C, Ortiz-Bonnin B, Simrick S, Schwerte T, Poon KL, Fang M, Rinné S, Froese A, Nikolaev VO, Grunert C, Müller T, Tasca G, Sarathchandra P, Drago F, Dallapiccola B, Rapezzi C, Arbustini E, Di Raimo FR, Neri M, Selvatici R, Gualandi F, Fattori F, Pietrangelo A, Li W, Jiang H, Xu X, Bertini E, Decher N, Wang J, Brand T, Ferlini A. Schindler RF, et al. Among authors: zhang j. J Clin Invest. 2016 Jan;126(1):239-53. doi: 10.1172/JCI79562. Epub 2015 Dec 7. J Clin Invest. 2016. PMID: 26642364 Free PMC article.
Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia.
Masuho I, Fang M, Geng C, Zhang J, Jiang H, Özgul RK, Yılmaz DY, Yalnızoğlu D, Yüksel D, Yarrow A, Myers A, Burn SC, Crotwell PL, Padilla-Lopez S, Dursun A, Martemyanov KA, Kruer MC. Masuho I, et al. Among authors: zhang j. Neurol Genet. 2016 May 12;2(3):e78. doi: 10.1212/NXG.0000000000000078. eCollection 2016 Jun. Neurol Genet. 2016. PMID: 27222887 Free PMC article. No abstract available.
Generalized sleep decoding with basal ganglia signals in multiple movement disorders.
Yin Z, Yu H, Yuan T, Smyth C, Anjum MF, Zhu G, Ma R, Xu Y, An Q, Gan Y, Merk T, Qin G, Xie H, Zhang N, Wang C, Jiang Y, Meng F, Yang A, Neumann WJ, Starr P, Little S, Li L, Zhang J. Yin Z, et al. Among authors: zhang j. NPJ Digit Med. 2024 May 10;7(1):122. doi: 10.1038/s41746-024-01115-7. NPJ Digit Med. 2024. PMID: 38729977
164,628 results
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