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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. Among authors: poulton j. 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.
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. Among authors: poulton j. 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.
Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.
Broomfield A, Sweeney MG, Woodward CE, Fratter C, Morris AM, Leonard JV, Abulhoul L, Grunewald S, Clayton PT, Hanna MG, Poulton J, Rahman S. Broomfield A, et al. Among authors: poulton j. J Inherit Metab Dis. 2015 May;38(3):445-57. doi: 10.1007/s10545-014-9778-4. Epub 2014 Oct 29. J Inherit Metab Dis. 2015. PMID: 25352051 Free PMC article.
Diagnosis of mitochondrial DNA depletion syndromes.
Rahman S, Poulton J. Rahman S, et al. Among authors: poulton j. Arch Dis Child. 2009 Jan;94(1):3-5. doi: 10.1136/adc.2008.147983. Arch Dis Child. 2009. PMID: 19103785 No abstract available.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
300 results