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Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.
Davidson AE, Siddiqui FM, Lopez MA, Lunt P, Carlson HA, Moore BE, Love S, Born DE, Roper H, Majumdar A, Jayadev S, Underhill HR, Smith CO, von der Hagen M, Hubner A, Jardine P, Merrison A, Curtis E, Cullup T, Jungbluth H, Cox MO, Winder TL, Abdel Salam H, Li JZ, Moore SA, Dowling JJ. Davidson AE, et al. Among authors: curtis e. Brain. 2013 Feb;136(Pt 2):508-21. doi: 10.1093/brain/aws344. Brain. 2013. PMID: 23413262 Free PMC article.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Marini Bettolo C, Barresi R, Charlton R, Bönnemann CG, Abath Neto O, Reed UC, Zanoteli E, Araújo Martins Moreno C, Ertl-Wagner B, Stucka R, De Goede C, Borges da Silva T, Hathazi D, Dell'Aica M, Zahedi RP, Thiele S, Müller J, Kingston H, Müller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmüller H, Senderek J. Wiessner M, et al. Among authors: curtis e. Am J Hum Genet. 2017 Mar 2;100(3):523-536. doi: 10.1016/j.ajhg.2017.01.024. Epub 2017 Feb 9. Am J Hum Genet. 2017. PMID: 28190456 Free PMC article.
Electron microscopic investigations in COVID-19: not all crowns are coronas.
Roufosse C, Curtis E, Moran L, Hollinshead M, Cook T, Hanley B, Horsfield C, Neil D. Roufosse C, et al. Among authors: curtis e. Kidney Int. 2020 Aug;98(2):505-506. doi: 10.1016/j.kint.2020.05.012. Epub 2020 May 22. Kidney Int. 2020. PMID: 32446936 Free PMC article. No abstract available.
Response to Antenatal Cholecalciferol Supplementation Is Associated With Common Vitamin D-Related Genetic Variants.
Moon RJ, Harvey NC, Cooper C, D'Angelo S, Curtis EM, Crozier SR, Barton SJ, Robinson SM, Godfrey KM, Graham NJ, Holloway JW, Bishop NJ, Kennedy S, Papageorghiou AT, Schoenmakers I, Fraser R, Gandhi SV, Prentice A, Inskip HM, Javaid MK; Maternal Vitamin D Osteoporosis Study Trial Group. Moon RJ, et al. J Clin Endocrinol Metab. 2017 Aug 1;102(8):2941-2949. doi: 10.1210/jc.2017-00682. J Clin Endocrinol Metab. 2017. PMID: 28575224 Free PMC article. Clinical Trial.
500 results