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Page 1
The heritability and genetics of frontotemporal lobar degeneration.
Rohrer JD, Guerreiro R, Vandrovcova J, Uphill J, Reiman D, Beck J, Isaacs AM, Authier A, Ferrari R, Fox NC, Mackenzie IR, Warren JD, de Silva R, Holton J, Revesz T, Hardy J, Mead S, Rossor MN. Rohrer JD, et al. Among authors: guerreiro r. Neurology. 2009 Nov 3;73(18):1451-6. doi: 10.1212/WNL.0b013e3181bf997a. Neurology. 2009. PMID: 19884572 Free PMC article.
Abnormal pain perception is associated with thalamo-cortico-striatal atrophy in C9orf72 expansion carriers in the GENFI cohort.
Convery RS, Bocchetta M, Greaves CV, Moore KM, Cash DM, Van Swieten J, Moreno F, Sánchez-Valle R, Borroni B, Laforce R Jr, Masellis M, Tartaglia MC, Graff C, Galimberti D, Rowe JB, Finger E, Synofzik M, Vandenberghe R, de Mendonca A, Tagliavini F, Santana I, Ducharme S, Butler C, Gerhard A, Levin J, Danek A, Otto M, Warren JD, Rohrer JD; Genetic FTD Initiative (GENFI). Convery RS, et al. J Neurol Neurosurg Psychiatry. 2020 Dec;91(12):1325-1328. doi: 10.1136/jnnp-2020-323279. Epub 2020 Aug 5. J Neurol Neurosurg Psychiatry. 2020. PMID: 32759310
Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration.
Rollinson S, Rizzu P, Sikkink S, Baker M, Halliwell N, Snowden J, Traynor BJ, Ruano D, Cairns N, Rohrer JD, Mead S, Collinge J, Rossor M, Akay E, Guerreiro R, Rademakers R, Morrison KE, Pastor P, Alonso E, Martinez-Lage P, Graff-Radford N, Neary D, Heutink P, Mann DM, Van Swieten J, Pickering-Brown SM. Rollinson S, et al. Among authors: guerreiro r. Neurobiol Aging. 2009 Apr;30(4):656-65. doi: 10.1016/j.neurobiolaging.2009.01.009. Epub 2009 Feb 12. Neurobiol Aging. 2009. PMID: 19217189 Free PMC article.
LRP10 in α-synucleinopathies.
Guerreiro R, Orme T, Neto JL, Bras J; International DLB Genetics Consortium. Guerreiro R, et al. Lancet Neurol. 2018 Dec;17(12):1032-1033. doi: 10.1016/S1474-4422(18)30399-5. Epub 2018 Nov 13. Lancet Neurol. 2018. PMID: 30507384 No abstract available.
TREM2 variants in Alzheimer's disease.
Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JS, Younkin S, Hazrati L, Collinge J, Pocock J, Lashley T, Williams J, Lambert JC, Amouyel P, Goate A, Rademakers R, Morgan K, Powell J, St George-Hyslop P, Singleton A, Hardy J; Alzheimer Genetic Analysis Group. Guerreiro R, et al. N Engl J Med. 2013 Jan 10;368(2):117-27. doi: 10.1056/NEJMoa1211851. Epub 2012 Nov 14. N Engl J Med. 2013. PMID: 23150934 Free PMC article.
Prion-like α-synuclein pathology in the brain of infants with Krabbe disease.
Hatton C, Ghanem SS, Koss DJ, Abdi IY, Gibbons E, Guerreiro R, Bras J; International DLB Genetics Consortium; Walker L, Gelpi E, Heywood W, Outeiro TF, Attems J, McFarland R, Forsyth R, El-Agnaf OM, Erskine D. Hatton C, et al. Among authors: guerreiro r. Brain. 2022 May 24;145(4):1257-1263. doi: 10.1093/brain/awac002. Brain. 2022. PMID: 34999780 Free PMC article.
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF, Arepalli S, Letson C, Edsall C, Stefansson H, Liu X, Pliner H, Lee JH, Cheng R; International Parkinson's Disease Genomics Consortium (IPDGC); Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI); 23andMe; GenePD; NeuroGenetics Research Consortium (NGRC); Hussman Institute of Human Genomics (HIHG); Ashkenazi Jewish Dataset Investigator; Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE); North American Brain Expression Consortium (NABEC); United Kingdom Brain Expression Consortium (UKBEC); Greek Parkinson's Disease Consortium; Alzheimer Genetic Analysis Group; Ikram MA, Ioannidis JP, Hadjigeorgiou GM, Bis JC, Martinez M, Perlmutter JS, Goate A, Marder K, Fiske B, Sutherland M, Xiromerisiou G, Myers RH, Clark LN, Stefansson K, Hardy JA, Heutink P, Chen H, Wood NW, Houlden H, Payami H, Brice A, Scott WK, Gasser T, Bertram L, Eriksson N, Foroud T, Singleton AB. Nalls MA, et al. Nat Genet. 2014 Sep;46(9):989-93. doi: 10.1038/ng.3043. Epub 2014 Jul 27. Nat Genet. 2014. PMID: 25064009 Free PMC article.
KCNN2 mutation in autosomal-dominant tremulous myoclonus-dystonia.
Balint B, Guerreiro R, Carmona S, Dehghani N, Latorre A, Cordivari C, Bhatia KP, Bras J. Balint B, et al. Among authors: guerreiro r. Eur J Neurol. 2020 Aug;27(8):1471-1477. doi: 10.1111/ene.14228. Epub 2020 May 3. Eur J Neurol. 2020. PMID: 32212350
361 results