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Page 1
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumić M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ. Amor DJ, et al. Among authors: stephenson sem. Am J Hum Genet. 2019 May 2;104(5):914-924. doi: 10.1016/j.ajhg.2019.02.026. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982611 Free PMC article.
ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible.
Delatycki MB, Wolthuizen M, Collins V, Varley E, Craven J, Allen KJ, Gurrin LC, Aitken M, Trembath MK, Bond L, Wilson GR, Stephenson SE, Macciocca I, Hickerton C, Lockhart PJ, Metcalfe SA. Delatycki MB, et al. Eur J Hum Genet. 2012 May;20(5):505-9. doi: 10.1038/ejhg.2011.247. Epub 2012 Jan 11. Eur J Hum Genet. 2012. PMID: 22234159 Free PMC article.
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.
Wilson GR, Sim JC, McLean C, Giannandrea M, Galea CA, Riseley JR, Stephenson SE, Fitzpatrick E, Haas SA, Pope K, Hogan KJ, Gregg RG, Bromhead CJ, Wargowski DS, Lawrence CH, James PA, Churchyard A, Gao Y, Phelan DG, Gillies G, Salce N, Stanford L, Marsh AP, Mignogna ML, Hayflick SJ, Leventer RJ, Delatycki MB, Mellick GD, Kalscheuer VM, D'Adamo P, Bahlo M, Amor DJ, Lockhart PJ. Wilson GR, et al. Am J Hum Genet. 2014 Dec 4;95(6):729-35. doi: 10.1016/j.ajhg.2014.10.015. Epub 2014 Nov 26. Am J Hum Genet. 2014. PMID: 25434005 Free PMC article.
An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels.
Yiu EM, Tai G, Peverill RE, Lee KJ, Croft KD, Mori TA, Scheiber-Mojdehkar B, Sturm B, Praschberger M, Vogel AP, Rance G, Stephenson SE, Sarsero JP, Stockley C, Lee CY, Churchyard A, Evans-Galea MV, Ryan MM, Lockhart PJ, Corben LA, Delatycki MB. Yiu EM, et al. J Neurol. 2015 May;262(5):1344-53. doi: 10.1007/s00415-015-7719-2. Epub 2015 Apr 7. J Neurol. 2015. PMID: 25845763 Clinical Trial.
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.
Marsh AP, Heron D, Edwards TJ, Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C, Gillies G, Gobius I, Guegan J, Heide S, Keren B, Lesne F, Lukic V, Mandelstam SA, McGillivray G, McIlroy A, Méneret A, Mignot C, Morcom LR, Odent S, Paolino A, Pope K, Riant F, Robinson GA, Spencer-Smith M, Srour M, Stephenson SE, Tankard R, Trouillard O, Welniarz Q, Wood A, Brice A, Rouleau G, Attié-Bitach T, Delatycki MB, Mandel JL, Amor DJ, Roze E, Piton A, Bahlo M, Billette de Villemeur T, Sherr EH, Leventer RJ, Richards LJ, Lockhart PJ, Depienne C. Marsh AP, et al. Nat Genet. 2017 Apr;49(4):511-514. doi: 10.1038/ng.3794. Epub 2017 Feb 27. Nat Genet. 2017. PMID: 28250454 Free PMC article.
Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14.
Stutterd C, Diakumis P, Bahlo M, Fanjul Fernandez M, Leventer RJ, Delatycki M, Amor D, Chow CW, Stephenson S, Meisler MH, Mclean C, Lockhart PJ. Stutterd C, et al. Ann Clin Transl Neurol. 2017 Nov 7;4(12):859-864. doi: 10.1002/acn3.487. eCollection 2017 Dec. Ann Clin Transl Neurol. 2017. PMID: 29296614 Free PMC article.
35 results