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Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
O'Grady GL, Best HA, Sztal TE, Schartner V, Sanjuan-Vazquez M, Donkervoort S, Abath Neto O, Sutton RB, Ilkovski B, Romero NB, Stojkovic T, Dastgir J, Waddell LB, Boland A, Hu Y, Williams C, Ruparelia AA, Maisonobe T, Peduto AJ, Reddel SW, Lek M, Tukiainen T, Cummings BB, Joshi H, Nectoux J, Brammah S, Deleuze JF, Ing VO, Ramm G, Ardicli D, Nowak KJ, Talim B, Topaloglu H, Laing NG, North KN, MacArthur DG, Friant S, Clarke NF, Bryson-Richardson RJ, Bönnemann CG, Laporte J, Cooper ST. O'Grady GL, et al. Among authors: best ha. Am J Hum Genet. 2016 Nov 3;99(5):1086-1105. doi: 10.1016/j.ajhg.2016.09.005. Epub 2016 Oct 13. Am J Hum Genet. 2016. PMID: 27745833 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: best ha. 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.
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.
O'Grady GL, Lek M, Lamande SR, Waddell L, Oates EC, Punetha J, Ghaoui R, Sandaradura SA, Best H, Kaur S, Davis M, Laing NG, Muntoni F, Hoffman E, MacArthur DG, Clarke NF, Cooper S, North K. O'Grady GL, et al. Ann Neurol. 2016 Jul;80(1):101-11. doi: 10.1002/ana.24687. Epub 2016 May 25. Ann Neurol. 2016. PMID: 27159402
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.
O'Grady GL, Verschuuren C, Yuen M, Webster R, Menezes M, Fock JM, Pride N, Best HA, Benavides Damm T, Turner C, Lek M, Engel AG, North KN, Clarke NF, MacArthur DG, Kamsteeg EJ, Cooper ST. O'Grady GL, et al. Among authors: best ha. Neurology. 2016 Oct 4;87(14):1442-1448. doi: 10.1212/WNL.0000000000003179. Epub 2016 Sep 2. Neurology. 2016. PMID: 27590285 Free PMC article.
Calpains for dummies: What you need to know about the calpain family.
Spinozzi S, Albini S, Best H, Richard I. Spinozzi S, et al. Biochim Biophys Acta Proteins Proteom. 2021 May;1869(5):140616. doi: 10.1016/j.bbapap.2021.140616. Epub 2021 Feb 3. Biochim Biophys Acta Proteins Proteom. 2021. PMID: 33545367 Free article. Review.
Pain in the back after fall.
Lo BM, Kallevang LR, Best HA. Lo BM, et al. Among authors: best ha. J Am Coll Emerg Physicians Open. 2021 Nov 24;2(6):e12602. doi: 10.1002/emp2.12602. eCollection 2021 Dec. J Am Coll Emerg Physicians Open. 2021. PMID: 34853834 Free PMC article. No abstract available.
Infantile haemangioma expresses embryonic stem cell markers.
Itinteang T, Tan ST, Brasch HD, Steel R, Best HA, Vishvanath A, Jia J, Day DJ. Itinteang T, et al. Among authors: best ha. J Clin Pathol. 2012 May;65(5):394-8. doi: 10.1136/jclinpath-2011-200462. Epub 2012 Mar 23. J Clin Pathol. 2012. PMID: 22447921
21 results