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A microRNA-328 binding site in PAX6 is associated with centrotemporal spikes of rolandic epilepsy.
Panjwani N, Wilson MD, Addis L, Crosbie J, Wirrell E, Auvin S, Caraballo RH, Kinali M, McCormick D, Oren C, Taylor J, Trounce J, Clarke T, Akman CI, Kugler SL, Mandelbaum DE, McGoldrick P, Wolf SM, Arnold P, Schachar R, Pal DK, Strug LJ. Panjwani N, et al. Among authors: mccormick d. Ann Clin Transl Neurol. 2016 Jun 2;3(7):512-22. doi: 10.1002/acn3.320. eCollection 2016 Jul. Ann Clin Transl Neurol. 2016. PMID: 27386500 Free PMC article.
Risk factors for reading disability in families with rolandic epilepsy.
Vega YH, Smith A, Cockerill H, Tang S, Agirre-Arrizubieta Z, Goyal S, Pina M, Akman CI, Jolleff N, McGinnity C, Gomez K, Gupta R, Hughes E, Jackman J, McCormick D, Oren C, Scott D, Taylor J, Trounce J, Clarke T, Kugler S, Mandelbaum DE, McGoldrick P, Wolf S, Strug LJ, Pal DK. Vega YH, et al. Among authors: mccormick d. Epilepsy Behav. 2015 Dec;53:174-9. doi: 10.1016/j.yebeh.2015.10.016. Epub 2015 Nov 12. Epilepsy Behav. 2015. PMID: 26580214 Free PMC article.
Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses.
Addis L, Sproviero W, Thomas SV, Caraballo RH, Newhouse SJ, Gomez K, Hughes E, Kinali M, McCormick D, Hannan S, Cossu S, Taylor J, Akman CI, Wolf SM, Mandelbaum DE, Gupta R, van der Spek RA, Pruna D, Pal DK. Addis L, et al. Among authors: mccormick d. J Med Genet. 2018 Sep;55(9):607-616. doi: 10.1136/jmedgenet-2018-105319. Epub 2018 May 22. J Med Genet. 2018. PMID: 29789371 Free PMC article.
Zellweger syndrome and secondary mitochondrial myopathy.
Salpietro V, Phadke R, Saggar A, Hargreaves IP, Yates R, Fokoloros C, Mankad K, Hertecant J, Ruggieri M, McCormick D, Kinali M. Salpietro V, et al. Among authors: mccormick d. Eur J Pediatr. 2015 Apr;174(4):557-63. doi: 10.1007/s00431-014-2431-2. Epub 2014 Oct 7. Eur J Pediatr. 2015. PMID: 25287621 Review.
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency.
Pavlidou E, Salpietro V, Phadke R, Hargreaves IP, Batten L, McElreavy K, Pitt M, Mankad K, Wilson C, Cutrupi MC, Ruggieri M, McCormick D, Saggar A, Kinali M. Pavlidou E, et al. Among authors: mccormick d. Eur J Paediatr Neurol. 2016 May;20(3):483-8. doi: 10.1016/j.ejpn.2015.12.016. Epub 2016 Jan 11. Eur J Paediatr Neurol. 2016. PMID: 26805434
1,176 results