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Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation.
Mackenzie IR, Ansorge O, Strong M, Bilbao J, Zinman L, Ang LC, Baker M, Stewart H, Eisen A, Rademakers R, Neumann M. Mackenzie IR, et al. Among authors: bilbao j. Acta Neuropathol. 2011 Jul;122(1):87-98. doi: 10.1007/s00401-011-0838-7. Epub 2011 May 21. Acta Neuropathol. 2011. PMID: 21604077 Free PMC article.
A mechanism for low penetrance in an ALS family with a novel SOD1 deletion.
Zinman L, Liu HN, Sato C, Wakutani Y, Marvelle AF, Moreno D, Morrison KE, Mohlke KL, Bilbao J, Robertson J, Rogaeva E. Zinman L, et al. Among authors: bilbao j. Neurology. 2009 Mar 31;72(13):1153-9. doi: 10.1212/01.wnl.0000345363.65799.35. Neurology. 2009. PMID: 19332692 Free PMC article.
A novel double mutation in FUS gene causing sporadic ALS.
Robertson J, Bilbao J, Zinman L, Hazrati LN, Tokuhiro S, Sato C, Moreno D, Strome R, Mackenzie IR, Rogaeva E. Robertson J, et al. Among authors: bilbao j. Neurobiol Aging. 2011 Mar;32(3):553.e27-30. doi: 10.1016/j.neurobiolaging.2010.05.015. Epub 2010 Jun 18. Neurobiol Aging. 2011. PMID: 20561714
RNA targets of TDP-43 identified by UV-CLIP are deregulated in ALS.
Xiao S, Sanelli T, Dib S, Sheps D, Findlater J, Bilbao J, Keith J, Zinman L, Rogaeva E, Robertson J. Xiao S, et al. Among authors: bilbao j. Mol Cell Neurosci. 2011 Jul;47(3):167-80. doi: 10.1016/j.mcn.2011.02.013. Epub 2011 Mar 21. Mol Cell Neurosci. 2011. PMID: 21421050
Investigation of c9orf72 in 4 neurodegenerative disorders.
Xi Z, Zinman L, Grinberg Y, Moreno D, Sato C, Bilbao JM, Ghani M, Hernández I, Ruiz A, Boada M, Morón FJ, Lang AE, Marras C, Bruni A, Colao R, Maletta RG, Puccio G, Rainero I, Pinessi L, Galimberti D, Morrison KE, Moorby C, Stockton JD, Masellis M, Black SE, Hazrati LN, Liang Y, van Haersma de With J, Fornazzari L, Villagra R, Rojas-Garcia R, Clarimón J, Mayeux R, Robertson J, St George-Hyslop P, Rogaeva E. Xi Z, et al. Among authors: bilbao jm. Arch Neurol. 2012 Dec;69(12):1583-90. doi: 10.1001/archneurol.2012.2016. Arch Neurol. 2012. PMID: 22964832 Free PMC article.
Case of a Man with Hemichorea and Behavioral Changes: "A Red Herring".
Kleiner G, Ryan SA, Bilbao J, Keith J, Rogaeva E, Black SE, Lang AE, Masellis M. Kleiner G, et al. Among authors: bilbao j. Mov Disord Clin Pract. 2022 Mar 30;9(4):501-507. doi: 10.1002/mdc3.13433. eCollection 2022 May. Mov Disord Clin Pract. 2022. PMID: 35586540 Free PMC article.
533 results