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Defining neurodegeneration on Guam by targeted genomic sequencing.
Steele JC, Guella I, Szu-Tu C, Lin MK, Thompson C, Evans DM, Sherman HE, Vilariño-Güell C, Gwinn K, Morris H, Dickson DW, Farrer MJ. Steele JC, et al. Ann Neurol. 2015 Mar;77(3):458-68. doi: 10.1002/ana.24346. Epub 2015 Feb 3. Ann Neurol. 2015. PMID: 25558820
ATP13A2 variability in Parkinson disease.
Vilariño-Güell C, Soto AI, Lincoln SJ, Ben Yahmed S, Kefi M, Heckman MG, Hulihan MM, Chai H, Diehl NN, Amouri R, Rajput A, Mash DC, Dickson DW, Middleton LT, Gibson RA, Hentati F, Farrer MJ. Vilariño-Güell C, et al. Hum Mutat. 2009 Mar;30(3):406-10. doi: 10.1002/humu.20877. Hum Mutat. 2009. PMID: 19085912 Free PMC article.
DCTN1 mutations in Perry syndrome.
Farrer MJ, Hulihan MM, Kachergus JM, Dächsel JC, Stoessl AJ, Grantier LL, Calne S, Calne DB, Lechevalier B, Chapon F, Tsuboi Y, Yamada T, Gutmann L, Elibol B, Bhatia KP, Wider C, Vilariño-Güell C, Ross OA, Brown LA, Castanedes-Casey M, Dickson DW, Wszolek ZK. Farrer MJ, et al. Nat Genet. 2009 Feb;41(2):163-5. doi: 10.1038/ng.293. Epub 2009 Jan 11. Nat Genet. 2009. PMID: 19136952 Free PMC article.
Characterization of DCTN1 genetic variability in neurodegeneration.
Vilariño-Güell C, Wider C, Soto-Ortolaza AI, Cobb SA, Kachergus JM, Keeling BH, Dachsel JC, Hulihan MM, Dickson DW, Wszolek ZK, Uitti RJ, Graff-Radford NR, Boeve BF, Josephs KA, Miller B, Boylan KB, Gwinn K, Adler CH, Aasly JO, Hentati F, Destée A, Krygowska-Wajs A, Chartier-Harlin MC, Ross OA, Rademakers R, Farrer MJ. Vilariño-Güell C, et al. Neurology. 2009 Jun 9;72(23):2024-8. doi: 10.1212/WNL.0b013e3181a92c4c. Neurology. 2009. PMID: 19506225 Free PMC article.
MEIS1 p.R272H in familial restless legs syndrome.
Vilariño-Güell C, Chai H, Keeling BH, Young JE, Rajput A, Lynch T, Aasly JO, Uitti RJ, Wszolek ZK, Farrer MJ, Lin SC. Vilariño-Güell C, et al. Neurology. 2009 Jul 21;73(3):243-5. doi: 10.1212/WNL.0b013e3181ae7c79. Neurology. 2009. PMID: 19620614 Free PMC article. No abstract available.
A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease.
Nishioka K, Kefi M, Jasinska-Myga B, Wider C, Vilariño-Güell C, Ross OA, Heckman MG, Middleton LT, Ishihara-Paul L, Gibson RA, Amouri R, Ben Yahmed S, Ben Sassi S, Zouari M, El Euch G, Farrer MJ, Hentati F. Nishioka K, et al. J Neurol Neurosurg Psychiatry. 2010 Apr;81(4):391-5. doi: 10.1136/jnnp.2009.185231. Epub 2009 Sep 2. J Neurol Neurosurg Psychiatry. 2010. PMID: 19726410
117 results