Macpherson L - Search Results

1

Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C.

Vogt J, Agrawal S, Ibrahim Z, Southwood TR, Philip S, Macpherson L, Bhole MV, Crow YJ, Oley C. Vogt J, et al. Among authors: macpherson l. Am J Med Genet A. 2013 Feb;161A(2):338-42. doi: 10.1002/ajmg.a.35712. Epub 2013 Jan 15. Am J Med Genet A. 2013. PMID: 23322642

2

Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN).

Kurian MA, Morgan NV, MacPherson L, Foster K, Peake D, Gupta R, Philip SG, Hendriksz C, Morton JE, Kingston HM, Rosser EM, Wassmer E, Gissen P, Maher ER. Kurian MA, et al. Among authors: macpherson l. Neurology. 2008 Apr 29;70(18):1623-9. doi: 10.1212/01.wnl.0000310986.48286.8e. Neurology. 2008. PMID: 18443314

3

Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X).

Fullston T, Brueton L, Willis T, Philip S, MacPherson L, Finnis M, Gecz J, Morton J. Fullston T, et al. Among authors: macpherson l. Eur J Hum Genet. 2010 Feb;18(2):157-62. doi: 10.1038/ejhg.2009.139. Epub 2009 Sep 9. Eur J Hum Genet. 2010. PMID: 19738637 Free PMC article.

4

Magnetic resonance spectroscopy in the diagnostic evaluation of brainstem lesions in Alexander disease.

Davison JE, Davies NP, English MW, Philip S, MacPherson LK, Gissen P, Peet AC. Davison JE, et al. J Child Neurol. 2011 Mar;26(3):356-60. doi: 10.1177/0883073810381279. Epub 2011 Jan 26. J Child Neurol. 2011. PMID: 21270471

5

Stereoelectroencephalography (SEEG)-guided insula resections: is it "Reily" worth it?

Pepper J, Seri S, Walsh AR, Agrawal S, Macpherson L, Sudarsanam A, Lo WB. Pepper J, et al. Among authors: macpherson l. Childs Nerv Syst. 2024 Dec 9;41(1):41. doi: 10.1007/s00381-024-06661-9. Childs Nerv Syst. 2024. PMID: 39652128

6

The utility of Multicentre Epilepsy Lesion Detection (MELD) algorithm in identifying epileptic activity and predicting seizure freedom in MRI lesion-negative paediatric patients.

Goel A, Seri S, Agrawal S, Kumar R, Sudarsanam A, Carr B, Lawley A, Macpherson L, Oates AJ, Williams H, Walsh AR, Lo WB, Pepper J. Goel A, et al. Among authors: macpherson l. Epilepsy Res. 2024 Oct;206:107429. doi: 10.1016/j.eplepsyres.2024.107429. Epub 2024 Aug 6. Epilepsy Res. 2024. PMID: 39151325

7

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis.

Crompton D, Rehal PK, MacPherson L, Foster K, Lunt P, Hughes I, Brady AF, Pike MG, De Gressi S, Morgan NV, Hardy C, Smith M, MacDonald F, Maher ER, Kurian MA. Crompton D, et al. Among authors: macpherson l. Mol Genet Metab. 2010 Jun;100(2):207-12. doi: 10.1016/j.ymgme.2010.02.009. Epub 2010 Feb 16. Mol Genet Metab. 2010. PMID: 20226704 Free article.

8

Short echo time 1 H magnetic resonance spectroscopy of childhood brain tumours.

Peet AC, Lateef S, MacPherson L, Natarajan K, Sgouros S, Grundy RG. Peet AC, et al. Among authors: macpherson l. Childs Nerv Syst. 2007 Feb;23(2):163-9. doi: 10.1007/s00381-006-0206-4. Epub 2006 Nov 15. Childs Nerv Syst. 2007. PMID: 17106750

9

Magnetic resonance spectroscopy suggests key differences in the metastatic behaviour of medulloblastoma.

Peet AC, Davies NP, Ridley L, Brundler MA, Kombogiorgas D, Lateef S, Natarajan K, Sgouros S, MacPherson L, Grundy RG. Peet AC, et al. Among authors: macpherson l. Eur J Cancer. 2007 Apr;43(6):1037-44. doi: 10.1016/j.ejca.2007.01.019. Epub 2007 Mar 8. Eur J Cancer. 2007. PMID: 17349783

10

The use of short-echo-time 1H MRS for childhood cerebellar tumours prior to histopathological diagnosis.

Harris LM, Davies N, Macpherson L, Foster K, Lateef S, Natarajan K, Sgouros S, Brundler MA, Arvanitis TN, Grundy RG, Peet AC. Harris LM, et al. Among authors: macpherson l. Pediatr Radiol. 2007 Nov;37(11):1101-9. doi: 10.1007/s00247-007-0571-5. Epub 2007 Sep 7. Pediatr Radiol. 2007. PMID: 17823793

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