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Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.
Kurian MA, Zhen J, Cheng SY, Li Y, Mordekar SR, Jardine P, Morgan NV, Meyer E, Tee L, Pasha S, Wassmer E, Heales SJ, Gissen P, Reith ME, Maher ER. Kurian MA, et al. Among authors: heales sj. J Clin Invest. 2009 Jun;119(6):1595-603. doi: 10.1172/JCI39060. Epub 2009 May 26. J Clin Invest. 2009. PMID: 19478460 Free PMC article.
An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.
Wilson MP, Footitt EJ, Papandreou A, Uudelepp ML, Pressler R, Stevenson DC, Gabriel C, McSweeney M, Baggot M, Burke D, Stödberg T, Riney K, Schiff M, Heales SJR, Mills KA, Gissen P, Clayton PT, Mills PB. Wilson MP, et al. Anal Chem. 2017 Sep 5;89(17):8892-8900. doi: 10.1021/acs.analchem.7b01358. Epub 2017 Aug 17. Anal Chem. 2017. PMID: 28782931 Free PMC article.
Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC.
Batllori M, Molero-Luis M, Ormazabal A, Casado M, Sierra C, García-Cazorla A, Kurian M, Pope S, Heales SJ, Artuch R. Batllori M, et al. Among authors: heales sj. Nat Protoc. 2017 Nov;12(11):2359-2375. doi: 10.1038/nprot.2017.103. Epub 2017 Oct 19. Nat Protoc. 2017. PMID: 29048424
Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.
Papandreou A, Rahman S, Fratter C, Ng J, Meyer E, Carr LJ, Champion M, Clarke A, Gissen P, Hemingway C, Hussain N, Jayawant S, King MD, Lynch BJ, Mewasingh L, Patel J, Prabhakar P, Neergheen V, Pope S, Heales SJR, Poulton J, Kurian MA. Papandreou A, et al. J Inherit Metab Dis. 2018 Nov;41(6):1275-1283. doi: 10.1007/s10545-018-0227-7. Epub 2018 Aug 30. J Inherit Metab Dis. 2018. PMID: 30167885 Free PMC article.
Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.
Papandreou A, Rahman S, Fratter C, Ng J, Meyer E, Carr LJ, Champion M, Clarke A, Gissen P, Hemingway C, Hussain N, Jayawant S, King MD, Lynch BJ, Mewasingh L, Patel J, Prabhakar P, Neergheen V, Pope S, Heales SJR, Poulton J, Kurian MA. Papandreou A, et al. J Inherit Metab Dis. 2018 Nov;41(6):1299-1301. doi: 10.1007/s10545-018-0247-3. J Inherit Metab Dis. 2018. PMID: 30456588 Free PMC article.
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
Ng J, Cortès-Saladelafont E, Abela L, Termsarasab P, Mankad K, Sudhakar S, Gorman KM, Heales SJR, Pope S, Biassoni L, Csányi B, Cain J, Rakshi K, Coutts H, Jayawant S, Jefferson R, Hughes D, García-Cazorla À, Grozeva D, Raymond FL, Pérez-Dueñas B, De Goede C, Pearson TS, Meyer E, Kurian MA. Ng J, et al. Among authors: heales sjr. Mov Disord. 2020 Aug;35(8):1357-1368. doi: 10.1002/mds.28063. Epub 2020 May 30. Mov Disord. 2020. PMID: 32472658 Free PMC article.
193 results