Ashley Marsh
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Title(s) | Postdoctoral Scholar, Neurosciences |
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School | Health Sciences |
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vCard | Download vCard |
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Bibliographic
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Edwards TJ, Marsh APL, Lockhart PJ, Richards LJ, Leventer RJ. Teaching NeuroImages: Imaging features of DCC-mediated mirror movements and isolated agenesis of the corpus callosum. Neurology. 2018 Aug 28; 91(9):e886-e887. PMID: 30150274.
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Marsh APL, Novarino G, Lockhart PJ, Leventer RJ. CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63. Eur J Hum Genet. 2019 Jan; 27(1):161-166. PMID: 30089829.
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da Silva RV, Johannssen HC, Wyss MT, Roome RB, Bourojeni FB, Stifani N, Marsh APL, Ryan MM, Lockhart PJ, Leventer RJ, Richards LJ, Rosenblatt B, Srour M, Weber B, Zeilhofer HU, Kania A. DCC Is Required for the Development of Nociceptive Topognosis in Mice and Humans. Cell Rep. 2018 Jan 30; 22(5):1105-1114. PMID: 29386099.
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Marsh APL, Edwards TJ, Galea C, Cooper HM, Engle EC, Jamuar SS, Méneret A, Moutard ML, Nava C, Rastetter A, Robinson G, Rouleau G, Roze E, Spencer-Smith M, Trouillard O, Billette de Villemeur T, Walsh CA, Yu TW, Heron D, Sherr EH, Richards LJ, Depienne C, Leventer RJ, Lockhart PJ. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. Hum Mutat. 2018 01; 39(1):23-39. PMID: 29068161.
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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. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. Nat Genet. 2017 Apr; 49(4):511-514. PMID: 28250454.
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Marsh AP, Yap P, Tan T, Pope K, White SM, Chong B, Mcgillivray G, Boys A, Stephenson SE, Leventer RJ, Stark Z, Lockhart PJ. A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9. Am J Med Genet A. 2017 03; 173(3):820-823. PMID: 28168832.
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Amor DJ, Marsh AP, Storey E, Tankard R, Gillies G, Delatycki MB, Pope K, Bromhead C, Leventer RJ, Bahlo M, Lockhart PJ. Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency. Neurol Genet. 2016 Dec; 2(6):e114. PMID: 27790638.
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Marsh AP, Lukic V, Pope K, Bromhead C, Tankard R, Ryan MM, Yiu EM, Sim JC, Delatycki MB, Amor DJ, McGillivray G, Sherr EH, Bahlo M, Leventer RJ, Lockhart PJ. Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss. Neurol Genet. 2015 Aug; 1(2):e16. PMID: 27066553; PMCID: PMC4807911.
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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. Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR. Neurology. 2015 May 19; 84(20):2029-32. PMID: 25878179; PMCID: PMC4442098.
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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. Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with a-synuclein pathology. Am J Hum Genet. 2014 Dec 04; 95(6):729-35. PMID: 25434005; PMCID: PMC4259921.
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