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Items: 16

1.

Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy.

Levene M, Bain MD, Moran NF, Nirmalananthan N, Poulton J, Scarpelli M, Filosto M, Mandel H, MacKinnon AD, Fairbanks L, Pacitti D, Bax BE.

J Clin Med. 2019 Apr 5;8(4). pii: E457. doi: 10.3390/jcm8040457.

2.

De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes.

Vadgama N, Pittman A, Simpson M, Nirmalananthan N, Murray R, Yoshikawa T, De Rijk P, Rees E, Kirov G, Hughes D, Fitzgerald T, Kristiansen M, Pearce K, Cerveira E, Zhu Q, Zhang C, Lee C, Hardy J, Nasir J.

Eur J Hum Genet. 2019 Mar 18. doi: 10.1038/s41431-019-0376-7. [Epub ahead of print]

PMID:
30886340
3.

Hyperacute neurology at a regional neurosciences centre: a 1-year experience of an innovative service model.

Moodley KK, Jones V, Yogarajah M, Patel B, Vivekananda U, Garcia-Reitboeck P, Samra K, Cluckie G, Foster O, Pereira AC, Nirmalananthan N.

Clin Med (Lond). 2019 Mar;19(2):119-126. doi: 10.7861/clinmedicine.19-2-119.

4.

Response.

Chinthapalli K, Nirmalananthan N.

Clin Med (Lond). 2019 Jan;19(1):89. doi: 10.7861/clinmedicine.19-1-89. No abstract available.

5.

Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far.

Pacitti D, Levene M, Garone C, Nirmalananthan N, Bax BE.

Front Genet. 2018 Dec 21;9:669. doi: 10.3389/fgene.2018.00669. eCollection 2018. Review.

6.

Assessment of acute headache in adults - what the general physician needs to know.

Chinthapalli K, Logan AM, Raj R, Nirmalananthan N.

Clin Med (Lond). 2018 Oct;18(5):422-427. doi: 10.7861/clinmedicine.18-5-422.

7.

Different attachment styles correlate with mood disorders in adults with epilepsy or migraine.

Mula M, Danquah-Boateng D, Cock HR, Khan U, Lozsadi DA, Nirmalananthan N.

Epilepsy Behav. 2016 Jan;54:110-4. doi: 10.1016/j.yebeh.2015.11.023. Epub 2015 Dec 17.

PMID:
26704569
8.

Correlation of clinical and molecular features in spinal bulbar muscular atrophy.

Fratta P, Nirmalananthan N, Masset L, Skorupinska I, Collins T, Cortese A, Pemble S, Malaspina A, Fisher EM, Greensmith L, Hanna MG.

Neurology. 2014 Jun 10;82(23):2077-84. doi: 10.1212/WNL.0000000000000507. Epub 2014 May 9.

9.

Co-induction of the heat shock response ameliorates disease progression in a mouse model of human spinal and bulbar muscular atrophy: implications for therapy.

Malik B, Nirmalananthan N, Gray AL, La Spada AR, Hanna MG, Greensmith L.

Brain. 2013 Mar;136(Pt 3):926-43. doi: 10.1093/brain/aws343. Epub 2013 Feb 7.

10.

Change of pitch due to carbamazepine and oxcarbazepine independently.

Gur-Ozmen S, Nirmalananthan N, von Oertzen TJ.

Seizure. 2013 Mar;22(2):162-3. doi: 10.1016/j.seizure.2012.11.010. Epub 2012 Dec 21. No abstract available.

11.

Devastating aquaporin-4 and HTLV-1-associated necrotizing encephalopathy.

Symmonds M, Nirmalananthan N, Taylor GP, Bridges LR, Schon F.

J Neurol. 2012 Dec;259(12):2732-5. doi: 10.1007/s00415-012-6651-y. Epub 2012 Aug 24. No abstract available.

PMID:
22918454
12.

Absence of disturbed axonal transport in spinal and bulbar muscular atrophy.

Malik B, Nirmalananthan N, Bilsland LG, La Spada AR, Hanna MG, Schiavo G, Gallo JM, Greensmith L.

Hum Mol Genet. 2011 May 1;20(9):1776-86. doi: 10.1093/hmg/ddr061. Epub 2011 Feb 11.

13.

Expression of mutant SOD1 in astrocytes induces functional deficits in motoneuron mitochondria.

Bilsland LG, Nirmalananthan N, Yip J, Greensmith L, Duchen MR.

J Neurochem. 2008 Dec;107(5):1271-83. doi: 10.1111/j.1471-4159.2008.05699.x. Epub 2008 Oct 25.

14.

Mitochondrial ND5 gene variation associated with encephalomyopathy and mitochondrial ATP consumption.

McKenzie M, Liolitsa D, Akinshina N, Campanella M, Sisodiya S, Hargreaves I, Nirmalananthan N, Sweeney MG, Abou-Sleiman PM, Wood NW, Hanna MG, Duchen MR.

J Biol Chem. 2007 Dec 21;282(51):36845-52. Epub 2007 Oct 16.

15.

Amyotrophic lateral sclerosis: recent advances and future therapies.

Nirmalananthan N, Greensmith L.

Curr Opin Neurol. 2005 Dec;18(6):712-9. Review.

PMID:
16280684
16.

Is it really myositis? A consideration of the differential diagnosis.

Nirmalananthan N, Holton JL, Hanna MG.

Curr Opin Rheumatol. 2004 Nov;16(6):684-91. Review.

PMID:
15577605

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