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187 results

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Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy.
Ong RW, AlSaman A, Selcen D, Arabshahi A, Yau KS, Ravenscroft G, Duff RM, Atkinson V, Allcock RJ, Laing NG. Ong RW, et al. Among authors: atkinson v. J Neurol Neurosurg Psychiatry. 2014 Sep;85(9):1058-60. doi: 10.1136/jnnp-2014-307608. Epub 2014 Mar 7. J Neurol Neurosurg Psychiatry. 2014. PMID: 24610938 No abstract available.
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.
Beecroft SJ, Yau KS, Allcock RJN, Mina K, Gooding R, Faiz F, Atkinson VJ, Wise C, Sivadorai P, Trajanoski D, Kresoje N, Ong R, Duff RM, Cabrera-Serrano M, Nowak KJ, Pachter N, Ravenscroft G, Lamont PJ, Davis MR, Laing NG. Beecroft SJ, et al. Ann Clin Transl Neurol. 2020 Mar;7(3):353-362. doi: 10.1002/acn3.51002. Epub 2020 Mar 9. Ann Clin Transl Neurol. 2020. PMID: 32153140 Free PMC article.
Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.
Cabrera-Serrano M, Junckerstorff RC, Atkinson V, Sivadorai P, Allcock RJ, Lamont P, Laing NG. Cabrera-Serrano M, et al. Among authors: atkinson v. Muscle Nerve. 2015 Jan;51(1):140-3. doi: 10.1002/mus.24446. Epub 2014 Nov 22. Muscle Nerve. 2015. PMID: 25187204
Silver Russel syndrome in an aboriginal patient from Australia.
Poulton C, Azmanov D, Atkinson V, Beilby J, Ewans L, Gration D, Dreyer L, Shetty V, Peake C, McCormack E, Palmer R, Lewis B, Dawkins H, Broley S, Baynam G. Poulton C, et al. Among authors: atkinson v. Am J Med Genet A. 2018 Dec;176(12):2561-2563. doi: 10.1002/ajmg.a.40502. Epub 2018 Aug 27. Am J Med Genet A. 2018. PMID: 30152198
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.
Kumar R, Palmer E, Gardner AE, Carroll R, Banka S, Abdelhadi O, Donnai D, Elgersma Y, Curry CJ, Gardham A, Suri M, Malla R, Brady LI, Tarnopolsky M, Azmanov DN, Atkinson V, Black M, Baynam G, Dreyer L, Hayeems RZ, Marshall CR, Costain G, Wessels MW, Baptista J, Drummond J, Leffler M, Field M, Gecz J. Kumar R, et al. Among authors: atkinson v. Front Mol Neurosci. 2020 Feb 11;13:12. doi: 10.3389/fnmol.2020.00012. eCollection 2020. Front Mol Neurosci. 2020. PMID: 32116545 Free PMC article.
Long acting progestogens versus combined oral contraceptive pill for preventing recurrence of endometriosis related pain: the PRE-EMPT pragmatic, parallel group, open label, randomised controlled trial.
Cooper KG, Bhattacharya S, Daniels JP, Horne AW, Clark TJ, Saridogan E, Cheed V, Pirie D, Melyda M, Monahan M, Roberts TE, Cox E, Stubbs C, Middleton LJ; PRE-EMPT Collaborative Group. Cooper KG, et al. BMJ. 2024 May 15;385:e079006. doi: 10.1136/bmj-2023-079006. BMJ. 2024. PMID: 38749550 Free PMC article. Clinical Trial.
Prognostic and predictive value of non-steroidal anti-inflammatory drugs in the EORTC 1325/KEYNOTE-054 phase III trial of pembrolizumab versus placebo in resected high-risk stage III melanoma.
Kennedy OJ, Glassee N, Kicinski M, Blank CU, Long GV, Atkinson VG, Dalle S, Haydon AM, Meshcheryakov A, Khattak A, Carlino MS, Sandhu S, Larkin J, Puig S, Ascierto PA, Rutkowski P, Schadendorf D, Boers-Sonderen M, Giacomo AMD, van den Eertwegh AJM, Grob JJ, Gutzmer R, Jamal R, van Akkooi ACJ, Gandini S, Buhrer E, Suciu S, Robert C, Eggermont AMM, Mandala M, Lorigan P, Valpione S. Kennedy OJ, et al. Among authors: atkinson vg. Eur J Cancer. 2024 Apr;201:113585. doi: 10.1016/j.ejca.2024.113585. Epub 2024 Feb 1. Eur J Cancer. 2024. PMID: 38402687 Clinical Trial.
187 results