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Page 1
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Töpf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Péréon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Böhm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bönnemann CG, Taylor JP. Kim HJ, et al. Among authors: o donovan dg. Nat Commun. 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1. Nat Commun. 2022. PMID: 35484142 Free PMC article.
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.
Schoenmakers E, Agostini M, Mitchell C, Schoenmakers N, Papp L, Rajanayagam O, Padidela R, Ceron-Gutierrez L, Doffinger R, Prevosto C, Luan J, Montano S, Lu J, Castanet M, Clemons N, Groeneveld M, Castets P, Karbaschi M, Aitken S, Dixon A, Williams J, Campi I, Blount M, Burton H, Muntoni F, O'Donovan D, Dean A, Warren A, Brierley C, Baguley D, Guicheney P, Fitzgerald R, Coles A, Gaston H, Todd P, Holmgren A, Khanna KK, Cooke M, Semple R, Halsall D, Wareham N, Schwabe J, Grasso L, Beck-Peccoz P, Ogunko A, Dattani M, Gurnell M, Chatterjee K. Schoenmakers E, et al. J Clin Invest. 2010 Dec;120(12):4220-35. doi: 10.1172/JCI43653. Epub 2010 Nov 15. J Clin Invest. 2010. PMID: 21084748 Free PMC article.
First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood.
Pizzamiglio C, Lahiri N, Nirmalananthan N, Sood B, Somalanka S, Ostrowski P, Phadke R, O'Donovan DG, Muntoni F, Quinlivan R. Pizzamiglio C, et al. Among authors: o donovan dg. Neuromuscul Disord. 2020 Jul;30(7):566-571. doi: 10.1016/j.nmd.2020.05.004. Epub 2020 May 21. Neuromuscul Disord. 2020. PMID: 32522502
Giant intracranial hemangioma in a neonate.
Jalloh I, Dean AF, O'Donovan DG, Cross J, Garnett MR, Santarius T. Jalloh I, et al. Acta Neurochir (Wien). 2014 Jun;156(6):1151-4. doi: 10.1007/s00701-014-2007-y. Epub 2014 Feb 5. Acta Neurochir (Wien). 2014. PMID: 24497024
Basal cell adenocarcinoma of the ethmoid sinuses.
Salem A, Phillips JS, Joseph JA, O'Donovan DG, Jani P. Salem A, et al. J Laryngol Otol. 2007 Sep;121(9):889-91. doi: 10.1017/S0022215107005853. Epub 2007 Feb 13. J Laryngol Otol. 2007. PMID: 17295935
78 results