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Page 1
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Among authors: dixon cl. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
Biochemical autoregulatory gene therapy for focal epilepsy.
Lieb A, Qiu Y, Dixon CL, Heller JP, Walker MC, Schorge S, Kullmann DM. Lieb A, et al. Among authors: dixon cl. Nat Med. 2018 Sep;24(9):1324-1329. doi: 10.1038/s41591-018-0103-x. Epub 2018 Jul 9. Nat Med. 2018. PMID: 29988123 Free PMC article.
Loss of Frrs1l disrupts synaptic AMPA receptor function, and results in neurodevelopmental, motor, cognitive and electrographical abnormalities.
Stewart M, Lau P, Banks G, Bains RS, Castroflorio E, Oliver PL, Dixon CL, Kruer MC, Kullmann DM, Acevedo-Arozena A, Wells SE, Corrochano S, Nolan PM. Stewart M, et al. Among authors: dixon cl. Dis Model Mech. 2019 Feb 22;12(2):dmm036806. doi: 10.1242/dmm.036806. Dis Model Mech. 2019. PMID: 30692144 Free PMC article.
Glycine receptor autoantibodies disrupt inhibitory neurotransmission.
Crisp SJ, Dixon CL, Jacobson L, Chabrol E, Irani SR, Leite MI, Leschziner G, Slaght SJ, Vincent A, Kullmann DM. Crisp SJ, et al. Among authors: dixon cl. Brain. 2019 Nov 1;142(11):3398-3410. doi: 10.1093/brain/awz297. Brain. 2019. PMID: 31591639 Free PMC article.
Prospective observational study to examine health-related quality of life and develop models to predict long-term patient-reported outcomes 6 months after hospital discharge with blunt thoracic injuries.
Baker E, Battle C, Banjeri A, Carlton E, Dixon C, Ferry J, Hopkins P, Jones R, Murrells T, Norton C, Patient L, Rasheed A, Skene I, Tabner A, Tunnicliff M, Young L, Xyrichis A, Lee G. Baker E, et al. BMJ Open. 2021 Jul 8;11(7):e049292. doi: 10.1136/bmjopen-2021-049292. BMJ Open. 2021. PMID: 34244278 Free PMC article.
43 results