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Page 1
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.
Le Ber I, Camuzat A, Guerreiro R, Bouya-Ahmed K, Bras J, Nicolas G, Gabelle A, Didic M, De Septenville A, Millecamps S, Lenglet T, Latouche M, Kabashi E, Campion D, Hannequin D, Hardy J, Brice A; French Clinical and Genetic Research Network on FTD/FTD-ALS. Le Ber I, et al. Among authors: guerreiro r. JAMA Neurol. 2013 Nov;70(11):1403-10. doi: 10.1001/jamaneurol.2013.3849. JAMA Neurol. 2013. PMID: 24042580 Free PMC article.
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.
Camargos S, Scholz S, Simón-Sánchez J, Paisán-Ruiz C, Lewis P, Hernandez D, Ding J, Gibbs JR, Cookson MR, Bras J, Guerreiro R, Oliveira CR, Lees A, Hardy J, Cardoso F, Singleton AB. Camargos S, et al. Among authors: guerreiro r. Lancet Neurol. 2008 Mar;7(3):207-15. doi: 10.1016/S1474-4422(08)70022-X. Epub 2008 Feb 1. Lancet Neurol. 2008. PMID: 18243799
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.
Neumann J, Bras J, Deas E, O'Sullivan SS, Parkkinen L, Lachmann RH, Li A, Holton J, Guerreiro R, Paudel R, Segarane B, Singleton A, Lees A, Hardy J, Houlden H, Revesz T, Wood NW. Neumann J, et al. Among authors: guerreiro r. Brain. 2009 Jul;132(Pt 7):1783-94. doi: 10.1093/brain/awp044. Epub 2009 Mar 13. Brain. 2009. PMID: 19286695 Free PMC article.
A new way APP mismetabolism can lead to Alzheimer's disease.
Hardy J, Guerreiro R. Hardy J, et al. Among authors: guerreiro r. EMBO Mol Med. 2011 May;3(5):247-8. doi: 10.1002/emmm.201100139. Epub 2011 Apr 27. EMBO Mol Med. 2011. PMID: 21523909 Free PMC article. No abstract available.
Clusterin as an Alzheimer biomarker.
Hardy J, Guerreiro R, Lovestone S. Hardy J, et al. Among authors: guerreiro r. Arch Neurol. 2011 Nov;68(11):1459-60. doi: 10.1001/archneurol.2011.1000. Arch Neurol. 2011. PMID: 22084130 No abstract available.
Screening for VPS35 mutations in Parkinson's disease.
Sheerin UM, Charlesworth G, Bras J, Guerreiro R, Bhatia K, Foltynie T, Limousin P, Silveira-Moriyama L, Lees A, Wood N. Sheerin UM, et al. Among authors: guerreiro r. Neurobiol Aging. 2012 Apr;33(4):838.e1-5. doi: 10.1016/j.neurobiolaging.2011.10.032. Epub 2011 Dec 7. Neurobiol Aging. 2012. PMID: 22154191 Free PMC article.
The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism.
Klebe S, Golmard JL, Nalls MA, Saad M, Singleton AB, Bras JM, Hardy J, Simon-Sanchez J, Heutink P, Kuhlenbäumer G, Charfi R, Klein C, Hagenah J, Gasser T, Wurster I, Lesage S, Lorenz D, Deuschl G, Durif F, Pollak P, Damier P, Tison F, Durr A, Amouyel P, Lambert JC, Tzourio C, Maubaret C, Charbonnier-Beaupel F, Tahiri K, Vidailhet M, Martinez M, Brice A, Corvol JC; French Parkinson's Disease Genetics Study Group; International Parkinson's Disease Genomics Consortium (IPDGC). Klebe S, et al. J Neurol Neurosurg Psychiatry. 2013 Jun;84(6):666-73. doi: 10.1136/jnnp-2012-304475. Epub 2013 Feb 13. J Neurol Neurosurg Psychiatry. 2013. PMID: 23408064 Free PMC article.
361 results