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Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia.
Reid KM, Steel D, Nair S, Bhate S, Biassoni L, Sudhakar S, Heys M, Burke E, Kamsteeg EJ, Genomics England Research Consortium, Hameed B, Zech M, Mencacci NE, Barwick K, Topf M, Kurian MA. Reid KM, et al. Cells. 2023 Mar 30;12(7):1046. doi: 10.3390/cells12071046. Cells. 2023. PMID: 37048120 Free PMC article.
Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy.
Abela L, Gianfrancesco L, Tagliatti E, Rossignoli G, Barwick K, Zourray C, Reid KM, Budinger D, Ng J, Counsell J, Simpson A, Pearson TS, Edvardson S, Elpeleg O, Brodsky FM, Lignani G, Barral S, Kurian MA. Abela L, et al. Among authors: reid km. Brain. 2024 Jun 3;147(6):2023-2037. doi: 10.1093/brain/awae020. Brain. 2024. PMID: 38242634
Advances in targeting neurotransmitter systems in dystonia.
Steel D, Reid KM, Pisani A, Hess EJ, Fox S, Kurian MA. Steel D, et al. Among authors: reid km. Int Rev Neurobiol. 2023;169:217-258. doi: 10.1016/bs.irn.2023.06.002. Epub 2023 Jul 5. Int Rev Neurobiol. 2023. PMID: 37482394
Synaptopathies: synaptic dysfunction in neurological disorders - A review from students to students.
Lepeta K, Lourenco MV, Schweitzer BC, Martino Adami PV, Banerjee P, Catuara-Solarz S, de La Fuente Revenga M, Guillem AM, Haidar M, Ijomone OM, Nadorp B, Qi L, Perera ND, Refsgaard LK, Reid KM, Sabbar M, Sahoo A, Schaefer N, Sheean RK, Suska A, Verma R, Vicidomini C, Wright D, Zhang XD, Seidenbecher C. Lepeta K, et al. Among authors: reid km. J Neurochem. 2016 Sep;138(6):785-805. doi: 10.1111/jnc.13713. Epub 2016 Sep 8. J Neurochem. 2016. PMID: 27333343 Free PMC article. Review.
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Reid KM, Spaull R, Salian S, Barwick K, Meyer E, Zhen J, Hirata H, Sheipouri D, Benkerroum H, Gorman KM, Papandreou A, Simpson MA, Hirano Y, Farabella I, Topf M, Grozeva D, Carss K, Smith M, Pall H, Lunt P, De Gressi S, Kamsteeg EJ, Haack TB, Carr L, Guerreiro R, Bras J, Maher ER, Scott RH, Vandenberg RJ, Raymond FL, Chong WK, Sudhakar S, Mankad K, Reith ME, Campeau PM, Harvey RJ, Kurian MA. Reid KM, et al. Mov Disord. 2022 Oct;37(10):2139-2146. doi: 10.1002/mds.29147. Epub 2022 Jul 25. Mov Disord. 2022. PMID: 35876425 Free PMC article.
Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants.
Steel DBD, Danti FR, Abunada M, Kamien B, Malhotra S, Topf M, Kaliakatsos M, Valentine J, Nemeth AH, Jayawant S, Reid KM, Mankad K, Sudhakar S, Ben-Pazi H, Barwick K, Kurian MA. Steel DBD, et al. Among authors: reid km. Neurology. 2023 May 23;100(21):e2214-e2223. doi: 10.1212/WNL.0000000000207241. Epub 2023 Apr 11. Neurology. 2023. PMID: 37041080 Free PMC article.