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Mutations in progranulin explain atypical phenotypes with variants in MAPT.
Pickering-Brown SM, Baker M, Gass J, Boeve BF, Loy CT, Brooks WS, Mackenzie IR, Martins RN, Kwok JB, Halliday GM, Kril J, Schofield PR, Mann DM, Hutton M. Pickering-Brown SM, et al. Brain. 2006 Nov;129(Pt 11):3124-6. doi: 10.1093/brain/awl289. Brain. 2006. PMID: 17071927
Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease.
Luty AA, Kwok JB, Dobson-Stone C, Loy CT, Coupland KG, Karlström H, Sobow T, Tchorzewska J, Maruszak A, Barcikowska M, Panegyres PK, Zekanowski C, Brooks WS, Williams KL, Blair IP, Mather KA, Sachdev PS, Halliday GM, Schofield PR. Luty AA, et al. Among authors: loy ct. Ann Neurol. 2010 Nov;68(5):639-49. doi: 10.1002/ana.22274. Ann Neurol. 2010. PMID: 21031579
C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients.
Dobson-Stone C, Hallupp M, Loy CT, Thompson EM, Haan E, Sue CM, Panegyres PK, Razquin C, Seijo-Martínez M, Rene R, Gascon J, Campdelacreu J, Schmoll B, Volk AE, Brooks WS, Schofield PR, Pastor P, Kwok JB. Dobson-Stone C, et al. Among authors: loy ct. PLoS One. 2013;8(2):e56899. doi: 10.1371/journal.pone.0056899. Epub 2013 Feb 20. PLoS One. 2013. PMID: 23437264 Free PMC article.
187 results