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88 results

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Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Zanovello M, Ibáñez K, Brown AL, Sivakumar P, Bombaci A, Santos L, van Vugt JJFA, Narzisi G, Karra R, Scholz SW, Ding J, Gibbs JR, Chiò A, Dalgard C, Weisburd B; American Genome Center (TAGC) consortium, Genomics England Research Consortium, Project MinE ALS Sequencing Consortium, The NYGC ALS Consortium; Hanna MG, Greensmith L, Phatnani H, Veldink JH, Traynor BJ, Polke J, Houlden H, Fratta P, Tucci A. Zanovello M, et al. Among authors: polke j. Brain. 2023 Jul 3;146(7):2723-2729. doi: 10.1093/brain/awad050. Brain. 2023. PMID: 36797998 Free PMC article.
Phenotype expression in women with CMT1X.
Siskind CE, Murphy SM, Ovens R, Polke J, Reilly MM, Shy ME. Siskind CE, et al. Among authors: polke j. J Peripher Nerv Syst. 2011 Jun;16(2):102-7. doi: 10.1111/j.1529-8027.2011.00332.x. J Peripher Nerv Syst. 2011. PMID: 21692908
Scalable and robust SARS-CoV-2 testing in an academic center.
Aitken J, Ambrose K, Barrell S, Beale R, Bineva-Todd G, Biswas D, Byrne R, Caidan S, Cherepanov P, Churchward L, Clark G, Crawford M, Cubitt L, Dearing V, Earl C, Edwards A, Ekin C, Fidanis E, Gaiba A, Gamblin S, Gandhi S, Goldman J, Goldstone R, Grant PR, Greco M, Heaney J, Hindmarsh S, Houlihan CF, Howell M, Hubank M, Hughes D, Instrell R, Jackson D, Jamal-Hanjani M, Jiang M, Johnson M, Jones L, Kanu N, Kassiotis G, Kirk S, Kjaer S, Levett A, Levett L, Levi M, Lu WT, MacRae JI, Matthews J, McCoy LE, Moore C, Moore D, Nastouli E, Nicod J, Nightingale L, Olsen J, O'Reilly N, Pabari A, Papayannopoulos V, Patel N, Peat N, Pollitt M, Ratcliffe P, Reis e Sousa C, Rosa A, Rosenthal R, Roustan C, Rowan A, Shin GY, Snell DM, Song OR, Spyer MJ, Strange A, Swanton C, Turner JMA, Turner M, Wack A, Walker PA, Ward S, Wong WK, Wright J, Wu M; Crick COVID-19 Consortium. Aitken J, et al. Nat Biotechnol. 2020 Aug;38(8):927-931. doi: 10.1038/s41587-020-0588-y. Nat Biotechnol. 2020. PMID: 32555528 No abstract available.
Clinical outcomes of COVID-19 in long-term care facilities for people with epilepsy.
Balestrini S, Koepp MJ, Gandhi S, Rickman HM, Shin GY, Houlihan CF, Anders-Cannon J, Silvennoinen K, Xiao F, Zagaglia S, Hudgell K, Ziomek M, Haimes P, Sampson A, Parker A, Helen Cross J, Pardington R, Nastouli E, Swanton C; Crick COVID Consortium (CCC); Sander JW, Sisodiya SM; ChAlfont keepS vulnerAble People safe (ASAP) Consortium:. Balestrini S, et al. Epilepsy Behav. 2021 Feb;115:107602. doi: 10.1016/j.yebeh.2020.107602. Epub 2020 Nov 5. Epilepsy Behav. 2021. PMID: 33279440 Free PMC article.
Author Correction: Scalable and robust SARS-CoV-2 testing in an academic center.
Aitken J, Ambrose K, Barrell S, Beale R, Bineva-Todd G, Biswas D, Byrne R, Caidan S, Cherepanov P, Churchward L, Clark G, Crawford M, Cubitt L, Dearing V, Earl C, Edwards A, Ekin C, Fidanis E, Gaiba A, Gamblin S, Gandhi S, Goldman J, Goldstone R, Grant PR, Greco M, Heaney J, Hindmarsh S, Houlihan CF, Howell M, Hubank M, Hughes D, Instrell R, Jackson D, Jamal-Hanjani M, Jiang M, Johnson M, Jones L, Kanu N, Kassiotis G, Kirk S, Kjaer S, Levett A, Levett L, Levi M, Lu WT, MacRae JI, Matthews J, McCoy LE, Moore C, Moore D, Nastouli E, Nicod J, Nightingale L, Olsen J, O'Reilly N, Pabari A, Papayannopoulos V, Patel N, Peat N, Pollitt M, Ratcliffe P, Reis e Sousa C, Rosa A, Rosenthal R, Roustan C, Rowan A, Shin GY, Snell DM, Song OR, Spyer MJ, Strange A, Swanton C, Turner JMA, Turner M, Wack A, Walker PA, Ward S, Wong WK, Wright J, Wu M; Crick COVID-19 Consortium. Aitken J, et al. Nat Biotechnol. 2020 Aug;38(8):1000. doi: 10.1038/s41587-020-0623-z. Nat Biotechnol. 2020. PMID: 32681136 Free PMC article.
Variable phenotypes are associated with PMP22 missense mutations.
Russo M, Laurá M, Polke JM, Davis MB, Blake J, Brandner S, Hughes RA, Houlden H, Bennett DL, Lunn MP, Reilly MM. Russo M, et al. Among authors: polke jm. Neuromuscul Disord. 2011 Feb;21(2):106-14. doi: 10.1016/j.nmd.2010.11.011. Epub 2010 Dec 30. Neuromuscul Disord. 2011. PMID: 21194947
88 results