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Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial.
Bax BE, Levene M, Bain MD, Fairbanks LD, Filosto M, Kalkan Uçar S, Klopstock T, Kornblum C, Mandel H, Rahman S, Roubertie A, Scarpelli M, Sedgwick PM, Baru M, Sellos-Moura M, Price J, Horn P, Nirmalananthan N. Bax BE, et al. Among authors: nirmalananthan n. J Clin Med. 2019 Jul 24;8(8):1096. doi: 10.3390/jcm8081096. J Clin Med. 2019. PMID: 31344955 Free PMC article.
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. Vadgama N, et al. Among authors: nirmalananthan n. Eur J Hum Genet. 2019 Jul;27(7):1121-1133. doi: 10.1038/s41431-019-0376-7. Epub 2019 Mar 18. Eur J Hum Genet. 2019. PMID: 30886340 Free PMC article. Clinical Trial.
First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood.
Pizzamiglio C, Lahiri N, Nirmalananthan N, Sood B, Somalanka S, Ostrowski P, Phadke R, O'Donovan DG, Muntoni F, Quinlivan R. Pizzamiglio C, et al. Among authors: nirmalananthan n. Neuromuscul Disord. 2020 Jul;30(7):566-571. doi: 10.1016/j.nmd.2020.05.004. Epub 2020 May 21. Neuromuscul Disord. 2020. PMID: 32522502
Response.
Chinthapalli K, Nirmalananthan N. Chinthapalli K, et al. Among authors: nirmalananthan n. Clin Med (Lond). 2019 Jan;19(1):89. doi: 10.7861/clinmedicine.19-1-89. Clin Med (Lond). 2019. PMID: 30651259 Free PMC article. No abstract available.
31 results