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Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual Pathology.
Salazar-Villacorta A, Spaull R, Chowdhury S, Mukhtyar B, Chitre M, Armstrong R, Sa M, Chandratre S, Kini U, Chinthapalli R, Mankad K, Sudhakar S, Pope S, Heales S, Kurian MA. Salazar-Villacorta A, et al. Among authors: pope s. Mov Disord Clin Pract. 2024 Sep;11(9):1149-1152. doi: 10.1002/mdc3.14164. Epub 2024 Jul 31. Mov Disord Clin Pract. 2024. PMID: 39082248 Free PMC article. No abstract available.
Dysregulation of glucose metabolism is an early event in sporadic Parkinson's disease.
Dunn L, Allen GF, Mamais A, Ling H, Li A, Duberley KE, Hargreaves IP, Pope S, Holton JL, Lees A, Heales SJ, Bandopadhyay R. Dunn L, et al. Among authors: pope s. Neurobiol Aging. 2014 May;35(5):1111-5. doi: 10.1016/j.neurobiolaging.2013.11.001. Epub 2013 Nov 9. Neurobiol Aging. 2014. PMID: 24300239 Free PMC article.
Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?
Horvath GA, Demos M, Shyr C, Matthews A, Zhang L, Race S, Stockler-Ipsiroglu S, Van Allen MI, Mancarci O, Toker L, Pavlidis P, Ross CJ, Wasserman WW, Trump N, Heales S, Pope S, Cross JH, van Karnebeek CD. Horvath GA, et al. Among authors: pope s. Mol Genet Metab. 2016 Jan;117(1):42-8. doi: 10.1016/j.ymgme.2015.11.008. Epub 2015 Nov 17. Mol Genet Metab. 2016. PMID: 26647175
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium; Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA. Meyer E, et al. Among authors: pope s. Nat Genet. 2017 Feb;49(2):223-237. doi: 10.1038/ng.3740. Epub 2016 Dec 19. Nat Genet. 2017. PMID: 27992417 Free article.
Low CSF 5-HIAA in Myoclonus Dystonia.
Peall KJ, Ng J, Dy ME, Sharma N, Pope S, Heales S, Friedman JR, Kurian MA. Peall KJ, et al. Among authors: pope s. Mov Disord. 2017 Nov;32(11):1647-1649. doi: 10.1002/mds.27117. Epub 2017 Sep 26. Mov Disord. 2017. PMID: 28949039 Free PMC article. No abstract available.
462 results