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Page 1
Digenic FLNA and UCHL1 variants resulting in a complex phenotype.
Pernice HF, O'Donnell LF, Rossor AM, Laura M, Record CJ, Skorupinska M, Blake J, Poh R, Polke J, Reilly MM. Pernice HF, et al. Among authors: polke j. J Peripher Nerv Syst. 2024 Mar;29(1):111-115. doi: 10.1111/jns.12611. Epub 2024 Jan 7. J Peripher Nerv Syst. 2024. PMID: 38131667
The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.
Xi Z, Zhang M, Bruni AC, Maletta RG, Colao R, Fratta P, Polke JM, Sweeney MG, Mudanohwo E, Nacmias B, Sorbi S, Tartaglia MC, Rainero I, Rubino E, Pinessi L, Galimberti D, Surace EI, McGoldrick P, McKeever P, Moreno D, Sato C, Liang Y, Keith J, Zinman L, Robertson J, Rogaeva E. Xi Z, et al. Among authors: polke jm. Acta Neuropathol. 2015 May;129(5):715-27. doi: 10.1007/s00401-015-1401-8. Epub 2015 Feb 26. Acta Neuropathol. 2015. PMID: 25716178 Free article.
Erratum to "The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism" [Neurobiol. Aging 36 (2015) 1221.e1-1221.e6].
Schottlaender LV, Polke JM, Ling H, MacDoanld ND, Tucci A, Nanji T, Pittman A, de Silva R, Holton JL, Revesz T, Sweeney MG, Singleton AB, Lees AJ, Bhatia KP, Houlden H. Schottlaender LV, et al. Among authors: polke jm. Neurobiol Aging. 2015 Apr;36(4):1768. doi: 10.1016/j.neurobiolaging.2015.02.027. Epub 2015 Mar 19. Neurobiol Aging. 2015. PMID: 28843426 Free PMC article. No abstract available.
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
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
X inactivation in females with X-linked Charcot-Marie-Tooth disease.
Murphy SM, Ovens R, Polke J, Siskind CE, Laurà M, Bull K, Ramdharry G, Houlden H, Murphy RP, Shy ME, Reilly MM. Murphy SM, et al. Among authors: polke j. Neuromuscul Disord. 2012 Jul;22(7):617-21. doi: 10.1016/j.nmd.2012.02.009. Epub 2012 Apr 6. Neuromuscul Disord. 2012. PMID: 22483671 Free PMC article.
92 results