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Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F. Godfrey C, et al. Among authors: smith j. Brain. 2007 Oct;130(Pt 10):2725-35. doi: 10.1093/brain/awm212. Epub 2007 Sep 18. Brain. 2007. PMID: 17878207
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Longman C, McWilliam R, Topaloglu H, Mein R, Abbs S, North K, Barkovich AJ, Rutherford M, Muntoni F. Clement E, et al. Among authors: smith j. Ann Neurol. 2008 Nov;64(5):573-82. doi: 10.1002/ana.21482. Ann Neurol. 2008. PMID: 19067344
Diagnosis and etiology of congenital muscular dystrophy.
Peat RA, Smith JM, Compton AG, Baker NL, Pace RA, Burkin DJ, Kaufman SJ, Lamandé SR, North KN. Peat RA, et al. Among authors: smith jm. Neurology. 2008 Jul 29;71(5):312-21. doi: 10.1212/01.wnl.0000284605.27654.5a. Epub 2007 Dec 26. Neurology. 2008. PMID: 18160674
YAP dysregulation triggers hypertrophy by CCN2 secretion and TGFβ uptake in human pluripotent stem cell-derived cardiomyocytes.
Chirikian O, Faynus MA, Merk M, Singh Z, Muray C, Pham J, Chialastri A, Vander Roest A, Goldstein A, Pyle T, Lane KV, Roberts B, Smith JE, Gunawardane RN, Sniadecki NJ, Mack DL, Davis J, Bernstein D, Streichan SJ, Clegg DO, Dey SS, Wilson MZ, Pruitt BL. Chirikian O, et al. Among authors: smith je. bioRxiv [Preprint]. 2024 Jun 5:2024.06.03.597045. doi: 10.1101/2024.06.03.597045. bioRxiv. 2024. PMID: 38895282 Free PMC article. Preprint.
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