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Page 1
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M Jr, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, Lesca G. Gokce-Samar Z, et al. Among authors: reid k. Neurology. 2024 Jan 23;102(2):e207945. doi: 10.1212/WNL.0000000000207945. Epub 2023 Dec 22. Neurology. 2024. PMID: 38165337
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.
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 Free PMC article.
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.
Sex Differences in Long COVID.
Shah DP, Thaweethai T, Karlson EW, Bonilla H, Horne BD, Mullington JM, Wisnivesky JP, Hornig M, Shinnick DJ, Klein JD, Erdmann NB, Brosnahan SB, Lee-Iannotti JK, Metz TD, Maughan C, Ofotokun I, Reeder HT, Stiles LE, Shaukat A, Hess R, Ashktorab H, Bartram L, Bassett IV, Becker JH, Brim H, Charney AW, Chopra T, Clifton RG, Deeks SG, Erlandson KM, Fierer DS, Flaherman VJ, Fonseca V, Gander JC, Hodder SL, Jacoby VL, Kotini-Shah P, Krishnan JA, Kumar A, Levy BD, Lieberman D, Lin JJ, Martin JN, McComsey GA, Moukabary T, Okumura MJ, Peluso MJ, Rosen CJ, Saade G, Shah PK, Sherif ZA, Taylor BS, Tuttle KR, Urdaneta AE, Wallick JA, Wiley Z, Zhang D, Horwitz LI, Foulkes AS, Singer NG; RECOVER Consortium. Shah DP, et al. JAMA Netw Open. 2025 Jan 2;8(1):e2455430. doi: 10.1001/jamanetworkopen.2024.55430. JAMA Netw Open. 2025. PMID: 39841477 Free PMC article.
The effects of ultra-selective beta1-antagonism on the metabolic and cytokine profile in septic shock patients receiving noradrenaline: a sub-investigation from the STRESS-L Randomised Study.
Thomas JL, McGee KC, Hossain A, Perkins GD, Gordon AC, Young D, McAuley D, Singer M, Lall R, Kramaric T, Lord JM, Whitehouse T, Mur LAJ; STRESS-L. collaborators. Thomas JL, et al. Intensive Care Med Exp. 2025 Jan 22;13(1):9. doi: 10.1186/s40635-024-00708-6. Intensive Care Med Exp. 2025. PMID: 39841388 Free PMC article.
1,320 results