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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: fang m. 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 Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family.
Bigoni S, Neri M, Scotton C, Farina R, Sabatelli P, Jiang C, Zhang J, Falzarano MS, Rossi R, Ognibene D, Selvatici R, Gualandi F, Bosshardt D, Perri P, Campa C, Brancati F, Salvatore M, De Stefano MC, Taruscio D, Trombelli L, Fang M, Ferlini A. Bigoni S, et al. Among authors: fang m. Front Genet. 2019 Jan 21;9:723. doi: 10.3389/fgene.2018.00723. eCollection 2018. Front Genet. 2019. PMID: 30740127 Free PMC article.
Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases.
Falzarano MS, Rossi R, Grilli A, Fang M, Osman H, Sabatelli P, Antoniel M, Lu Z, Li W, Selvatici R, Al-Khalili C, Gualandi F, Bicciato S, Torelli S, Ferlini A. Falzarano MS, et al. Among authors: fang m. Front Physiol. 2021 Oct 20;12:716471. doi: 10.3389/fphys.2021.716471. eCollection 2021. Front Physiol. 2021. PMID: 34744760 Free PMC article.
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome.
Gualandi F, Zaraket F, Malagù M, Parmeggiani G, Trabanelli C, Fini S, Dang X, Wei X, Fang M, Bertini M, Ferrari R, Ferlini A. Gualandi F, et al. Among authors: fang m. Cardiology. 2017;137(4):256-260. doi: 10.1159/000471792. Epub 2017 May 12. Cardiology. 2017. PMID: 28494446
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries.
Selvatici R, Rossi R, Fortunato F, Trabanelli C, Sifi Y, Margutti A, Neri M, Gualandi F, Szabò L, Fekete B, Angelova L, Litvinenko I, Ivanov I, Vildan Y, Iuhas OA, Vintan M, Burloiu C, Lacramioara B, Visa G, Epure D, Rusu C, Vasile D, Sandu M, Vlodavets D, Mager M, Kyriakides T, Delin S, Lehman I, Fureš JS, Bojinova V, Militaru M, Guergueltcheva V, Burnyte B, Molnar MJ, Butoianu N, Bensemmane SD, Makri-Mokrane S, Herczegfalvi A, Panzaru M, Emandi AC, Lusakowska A, Potulska-Chromik A, Kostera-Pruszczyk A, Shatillo A, Khelladi DB, Dendane O, Fang M, Lu Z, Ferlini A. Selvatici R, et al. Among authors: fang m. Neurol Genet. 2020 Dec 24;7(1):e536. doi: 10.1212/NXG.0000000000000536. eCollection 2021 Feb. Neurol Genet. 2020. PMID: 33376799 Free PMC article.
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing.
Falzarano MS, Grilli A, Zia S, Fang M, Rossi R, Gualandi F, Rimessi P, El Dani R, Fabris M, Lu Z, Li W, Mongini T, Ricci F, Pegoraro E, Bello L, Barp A, Sansone VA, Hegde M, Roda B, Reschiglian P, Bicciato S, Selvatici R, Ferlini A. Falzarano MS, et al. Among authors: fang m. HGG Adv. 2021 Aug 24;3(1):100054. doi: 10.1016/j.xhgg.2021.100054. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35047845 Free PMC article.
3,982 results