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Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Berkovic SF, Oliver KL, Canafoglia L, Krieger P, Damiano JA, Hildebrand MS, Morbin M, Vears DF, Sofia V, Giuliano L, Garavaglia B, Simonati A, Santorelli FM, Gambardella A, Labate A, Belcastro V, Castellotti B, Ozkara C, Zeman A, Rankin J, Mole SE, Aguglia U, Farrell M, Rajagopalan S, McDougall A, Brammah S, Andermann F, Andermann E, Dahl HM, Franceschetti S, Carpenter S. Berkovic SF, et al. Among authors: farrell m. Brain. 2019 Jan 1;142(1):59-69. doi: 10.1093/brain/awy297. Brain. 2019. PMID: 30561534
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF. Arsov T, et al. Among authors: farrell m. Am J Hum Genet. 2011 May 13;88(5):566-73. doi: 10.1016/j.ajhg.2011.04.004. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549341 Free PMC article.
Closing the tau loop: the missing tau mutation.
McCarthy A, Lonergan R, Olszewska DA, O'Dowd S, Cummins G, Magennis B, Fallon EM, Pender N, Huey ED, Cosentino S, O'Rourke K, Kelly BD, O'Connell M, Delon I, Farrell M, Spillantini MG, Rowland LP, Fahn S, Craig P, Hutton M, Lynch T. McCarthy A, et al. Among authors: farrell m. Brain. 2015 Oct;138(Pt 10):3100-9. doi: 10.1093/brain/awv234. Epub 2015 Aug 21. Brain. 2015. PMID: 26297556 Free PMC article.
Inflammatory myopathy in thyrotoxicosis.
Hardiman O, Molloy F, Brett F, Farrell M. Hardiman O, et al. Among authors: farrell m. Neurology. 1997 Feb;48(2):339-41. doi: 10.1212/wnl.48.2.339. Neurology. 1997. PMID: 9040717
Case report: recurrent temporalis muscle swelling and headache.
McGuigan C, O'Riordan S, Farrell M, Mitchell B, Hutchinson M. McGuigan C, et al. Among authors: farrell m. Neurology. 2003 Feb 25;60(4):724-5. doi: 10.1212/01.wnl.0000048664.01003.e2. Neurology. 2003. PMID: 12601126 No abstract available.
Parkin disease: a clinicopathologic entity?
Doherty KM, Silveira-Moriyama L, Parkkinen L, Healy DG, Farrell M, Mencacci NE, Ahmed Z, Brett FM, Hardy J, Quinn N, Counihan TJ, Lynch T, Fox ZV, Revesz T, Lees AJ, Holton JL. Doherty KM, et al. Among authors: farrell m. JAMA Neurol. 2013 May;70(5):571-9. doi: 10.1001/jamaneurol.2013.172. JAMA Neurol. 2013. PMID: 23459986 Free PMC article.
1,910 results