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Page 1
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.
Sandaradura SA, Bournazos A, Mallawaarachchi A, Cummings BB, Waddell LB, Jones KJ, Troedson C, Sudarsanam A, Nash BM, Peters GB, Algar EM, MacArthur DG, North KN, Brammah S, Charlton A, Laing NG, Wilson MJ, Davis MR, Cooper ST. Sandaradura SA, et al. Among authors: charlton a. Hum Mutat. 2018 Mar;39(3):383-388. doi: 10.1002/humu.23385. Epub 2018 Jan 13. Hum Mutat. 2018. PMID: 29266598 Free PMC article.
Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.
O'Grady GL, Best HA, Oates EC, Kaur S, Charlton A, Brammah S, Punetha J, Kesari A, North KN, Ilkovski B, Hoffman EP, Clarke NF. O'Grady GL, et al. Among authors: charlton a. Eur J Hum Genet. 2015 Jun;23(6):883-6. doi: 10.1038/ejhg.2014.169. Epub 2014 Sep 3. Eur J Hum Genet. 2015. PMID: 25182138 Free PMC article.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG. Oates EC, et al. Among authors: charlton a. Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. Ann Neurol. 2018. PMID: 29691892 Free PMC article.
WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase.
Waddell LB, Bryen SJ, Cummings BB, Bournazos A, Evesson FJ, Joshi H, Marshall JL, Tukiainen T, Valkanas E, Weisburd B, Sadedin S, Davis MR, Faiz F, Gooding R, Sandaradura SA, O'Grady GL, Tchan MC, Mowat DR, Oates EC, Farrar MA, Sampaio H, Ma A, Neas K, Wang MX, Charlton A, Chan C, Kenwright DN, Graf N, Arbuckle S, Clarke NF, MacArthur DG, Jones KJ, Lek M, Cooper ST. Waddell LB, et al. Among authors: charlton a. Neurol Genet. 2021 Jan 29;7(1):e554. doi: 10.1212/NXG.0000000000000554. eCollection 2021 Feb. Neurol Genet. 2021. PMID: 33977140 Free PMC article.
Teaching twenty-first century trainees.
Kenwright D, Charlton A, Grainger R. Kenwright D, et al. Among authors: charlton a. Pathology. 2018 Oct;50(6):591-592. doi: 10.1016/j.pathol.2018.07.001. Epub 2018 Aug 28. Pathology. 2018. PMID: 30170701 No abstract available.
Optimizing muscle biopsy for the diagnosis of mitochondrial myopathy.
Almousa R, Charlton A, Rajesh ST, Sundar G, Amrith S. Almousa R, et al. Among authors: charlton a. Ophthalmic Plast Reconstr Surg. 2009 Sep-Oct;25(5):366-70. doi: 10.1097/IOP.0b013e3181b2fd06. Ophthalmic Plast Reconstr Surg. 2009. PMID: 19966649
286 results