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Items: 1 to 20 of 116

1.

Compound heterozygous FXN mutations and clinical outcome in Friedreich ataxia.

Galea CA, Huq A, Lockhart PJ, Tai G, Corben LA, Yiu EM, Gurrin LC, Lynch DR, Gelbard S, Durr A, Pousset F, Parkinson M, Labrum R, Giunti P, Perlman SL, Delatycki MB, Evans-Galea MV.

Ann Neurol. 2015 Dec 24. doi: 10.1002/ana.24595. [Epub ahead of print]

PMID:
26704351
2.

Endosymbiotic origin and differential loss of eukaryotic genes.

Ku C, Nelson-Sathi S, Roettger M, Sousa FL, Lockhart PJ, Bryant D, Hazkani-Covo E, McInerney JO, Landan G, Martin WF.

Nature. 2015 Aug 27;524(7566):427-32. doi: 10.1038/nature14963. Epub 2015 Aug 19.

PMID:
26287458
3.

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.

Sim JC, Scerri T, Fanjul-Fernández M, Riseley JR, Gillies G, Pope K, van Roozendaal H, Heng JI, Mandelstam SA, McGillivray G, MacGregor D, Kannan L, Maixner W, Harvey AS, Amor DJ, Delatycki MB, Crino PB, Bahlo M, Lockhart PJ, Leventer RJ.

Ann Neurol. 2016 Jan;79(1):132-7. doi: 10.1002/ana.24502. Epub 2015 Dec 12.

PMID:
26285051
4.

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.

Scerri T, Riseley JR, Gillies G, Pope K, Burgess R, Mandelstam SA, Dibbens L, Chow CW, Maixner W, Harvey AS, Jackson GD, Amor DJ, Delatycki MB, Crino PB, Berkovic SF, Scheffer IE, Bahlo M, Lockhart PJ, Leventer RJ.

Ann Clin Transl Neurol. 2015 May;2(5):575-80. doi: 10.1002/acn3.191. Epub 2015 Mar 12.

5.

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.

Leventer RJ, Scerri T, Marsh AP, Pope K, Gillies G, Maixner W, MacGregor D, Harvey AS, Delatycki MB, Amor DJ, Crino P, Bahlo M, Lockhart PJ.

Neurology. 2015 May 19;84(20):2029-32. doi: 10.1212/WNL.0000000000001594. Epub 2015 Apr 15.

PMID:
25878179
6.

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.

J Neurol. 2015 May;262(5):1344-53. doi: 10.1007/s00415-015-7719-2. Epub 2015 Apr 7.

PMID:
25845763
7.

ARID1B-mediated disorders: Mutations and possible mechanisms.

Sim JC, White SM, Lockhart PJ.

Intractable Rare Dis Res. 2015 Feb;4(1):17-23. doi: 10.5582/irdr.2014.01021. Review.

8.

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.

Am J Hum Genet. 2014 Dec 4;95(6):729-35. doi: 10.1016/j.ajhg.2014.10.015. Epub 2014 Nov 26.

9.

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.

Lessel D, Vaz B, Halder S, Lockhart PJ, Marinovic-Terzic I, Lopez-Mosqueda J, Philipp M, Sim JC, Smith KR, Oehler J, Cabrera E, Freire R, Pope K, Nahid A, Norris F, Leventer RJ, Delatycki MB, Barbi G, von Ameln S, Högel J, Degoricija M, Fertig R, Burkhalter MD, Hofmann K, Thiele H, Altmüller J, Nürnberg G, Nürnberg P, Bahlo M, Martin GM, Aalfs CM, Oshima J, Terzic J, Amor DJ, Dikic I, Ramadan K, Kubisch C.

Nat Genet. 2014 Nov;46(11):1239-44. doi: 10.1038/ng.3103. Epub 2014 Sep 28.

10.

Refining analyses of copy number variation identifies specific genes associated with developmental delay.

Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE.

Nat Genet. 2014 Oct;46(10):1063-71. doi: 10.1038/ng.3092. Epub 2014 Sep 14.

11.

Identification of a novel RNF213 variant in a family with heterogeneous intracerebral vasculopathy.

Smith KR, Leventer RJ, Mackay MT, Pope K, Gillies G, Delatycki MB, Amor DJ, Bahlo M, Lockhart PJ.

Int J Stroke. 2014 Aug;9(6):E26-7. doi: 10.1111/ijs.12306. No abstract available.

PMID:
25043520
12.

Cell and gene therapy for Friedreich ataxia: progress to date.

Evans-Galea MV, Pébay A, Dottori M, Corben LA, Ong SH, Lockhart PJ, Delatycki MB.

Hum Gene Ther. 2014 Aug;25(8):684-93. doi: 10.1089/hum.2013.180. Epub 2014 Jun 19. Review.

PMID:
24749505
13.

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.

Sim JC, White SM, Fitzpatrick E, Wilson GR, Gillies G, Pope K, Mountford HS, Torring PM, McKee S, Vulto-van Silfhout AT, Jhangiani SN, Muzny DM, Leventer RJ, Delatycki MB, Amor DJ, Lockhart PJ.

Orphanet J Rare Dis. 2014 Mar 27;9:43. doi: 10.1186/1750-1172-9-43.

14.

Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia.

Evans-Galea MV, Lockhart PJ, Galea CA, Hannan AJ, Delatycki MB.

Discov Med. 2014 Jan;17(91):25-35. Review.

15.

HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia.

Delatycki MB, Tai G, Corben L, Yiu EM, Evans-Galea MV, Stephenson SE, Gurrin L, Allen KJ, Lynch D, Lockhart PJ.

Mov Disord. 2014 Jun;29(7):940-3. doi: 10.1002/mds.25795. Epub 2014 Jan 3.

PMID:
24390816
16.

Species radiation by niche shifts in New Zealand's rockcresses (Pachycladon, Brassicaceae).

Joly S, Heenan PB, Lockhart PJ.

Syst Biol. 2014 Mar;63(2):192-202. doi: 10.1093/sysbio/syt104. Epub 2013 Dec 10.

PMID:
24335427
17.

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.

Wilson GR, Sunley J, Smith KR, Pope K, Bromhead CJ, Fitzpatrick E, Di Rocco M, van Steensel M, Coman DJ, Leventer RJ, Delatycki MB, Amor DJ, Bahlo M, Lockhart PJ.

Eur J Hum Genet. 2014 Jun;22(6):741-7. doi: 10.1038/ejhg.2013.229. Epub 2013 Oct 9.

18.

Detection and diversity of pathogenic Vibrio from Fiji.

Singh R, Narayan V, McLenachan P, Winkworth RC, Mitra S, Lockhart PJ, Berry L, Hatha AM, Aalbersberg W, Rao D.

Environ Microbiol Rep. 2012 Aug;4(4):403-11. doi: 10.1111/j.1758-2229.2012.00344.x. Epub 2012 Apr 12.

PMID:
23760825
19.

Identification of chloroplast genome loci suitable for high-resolution phylogeographic studies of Colocasia esculenta (L.) Schott (Araceae) and closely related taxa.

Ahmed I, Matthews PJ, Biggs PJ, Naeem M, McLenachan PA, Lockhart PJ.

Mol Ecol Resour. 2013 Sep;13(5):929-37. doi: 10.1111/1755-0998.12128. Epub 2013 May 30.

PMID:
23718317
20.

Environmental bio-monitoring with high-throughput sequencing.

Wang J, McLenachan PA, Biggs PJ, Winder LH, Schoenfeld BI, Narayan VV, Phiri BJ, Lockhart PJ.

Brief Bioinform. 2013 Sep;14(5):575-88. doi: 10.1093/bib/bbt032. Epub 2013 May 15. Review.

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