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A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bönnemann CG, Olson EN; Moebius Syndrome Research Consortium; Carey JC, Robertson SP, Manoli I, Engle EC. Di Gioia SA, et al. Among authors: bonnemann cg. Nat Commun. 2017 Jul 6;8:16077. doi: 10.1038/ncomms16077. Nat Commun. 2017. PMID: 28681861 Free PMC article.
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.
Rinaldi C, Grunseich C, Sevrioukova IF, Schindler A, Horkayne-Szakaly I, Lamperti C, Landouré G, Kennerson ML, Burnett BG, Bönnemann C, Biesecker LG, Ghezzi D, Zeviani M, Fischbeck KH. Rinaldi C, et al. Am J Hum Genet. 2012 Dec 7;91(6):1095-102. doi: 10.1016/j.ajhg.2012.10.008. Am J Hum Genet. 2012. PMID: 23217327 Free PMC article.
Electrical impedance myography in individuals with collagen 6 and laminin α-2 congenital muscular dystrophy: a cross-sectional and 2-year analysis.
Nichols C, Jain MS, Meilleur KG, Wu T, Collins J, Waite MR, Dastgir J, Salman A, Donkervoort S, Duong T, Keller K, Leach ME, Lott DJ, McGuire MN, Nelson L, Rutkowski A, Vuillerot C, Bönnemann CG, Lehky TJ. Nichols C, et al. Among authors: bonnemann cg. Muscle Nerve. 2018 Jan;57(1):54-60. doi: 10.1002/mus.25629. Epub 2017 Apr 25. Muscle Nerve. 2018. PMID: 28224647 Free PMC article.
Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods.
Donkervoort S, Chan SHS, Hayes LH, Bradley N, Nguyen D, Leach ME, Mohassel P, Hu Y, Thangarajh M, Bharucha-Goebel D, Kan A, Ho RSL, Reyes CA, Nance J, Moore SA, Foley AR, Bönnemann CG. Donkervoort S, et al. Among authors: bonnemann cg. Neuromuscul Disord. 2017 Jun;27(6):531-536. doi: 10.1016/j.nmd.2017.02.012. Epub 2017 Mar 2. Neuromuscul Disord. 2017. PMID: 28416349 Free PMC article.
Extracellular matrix-driven congenital muscular dystrophies.
Mohassel P, Foley AR, Bönnemann CG. Mohassel P, et al. Among authors: bonnemann cg. Matrix Biol. 2018 Oct;71-72:188-204. doi: 10.1016/j.matbio.2018.06.005. Epub 2018 Jun 19. Matrix Biol. 2018. PMID: 29933045 Review.
Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot.
Sapp JC, Johnston JJ, Driscoll K, Heidlebaugh AR, Miren Sagardia A, Dogbe DN, Umstead KL, Turbitt E, Alevizos I, Baron J, Bönnemann C, Brooks B, Donkervoort S, Jee YH, Linehan WM, McMahon FJ, Moss J, Mullikin JC, Nielsen D, Pelayo E, Remaley AT, Siegel R, Su H, Zarate C; NISC Comparative Sequencing Program; Manolio TA, Biesecker BB, Biesecker LG. Sapp JC, et al. Am J Hum Genet. 2018 Sep 6;103(3):358-366. doi: 10.1016/j.ajhg.2018.07.018. Epub 2018 Aug 16. Am J Hum Genet. 2018. PMID: 30122538 Free PMC article.
344 results