Selected Publications

For a complete list of publications from the Guerreiro-Bras Lab follow the link.

Selected publications:

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. N Engl J Med. 2013 Jan 10;368(2):117-27

Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4. Bras J, Alonso I, Barbot C, Costa MM, Darwent L, Orme T, Sequeiros J, Hardy J, Coutinho P, Guerreiro R. Am J Hum Genet. 2015 Mar 5;96(3):474-9.

SnapShot: genetics of ALS and FTD. Guerreiro R, Bras J, Hardy J. Cell. 2015 Feb 12;160(4):798

SnapShot: genetics of Parkinson’s disease. Bras J,Guerreiro R, Hardy J. Cell. 2015 Jan 29;160(3):570-570

SnapShot: genetics of Alzheimer’s disease. Guerreiro R, Bras J, Hardy J. Cell. 2013 Nov 7;155(4):968-968

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer’s disease. European Alzheimer’s Disease Initiative (EADI); Genetic and Environmental Risk in Alzheimer’s Disease; Alzheimer’s Disease Genetic Consortium; Cohorts for Heart and Aging Research in Genomic Epidemiology, et al. Nat Genet. 2013 Dec;45(12):1452-8

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. JAMA Neurol. 2013 Nov;70(11):1403-10

Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. Guerreiro R, Kara E, Le Ber I, Bras J, Rohrer JD, Taipa R, Lashley T, Dupuits C, Gurunlian N, Mochel F, Warren JD, Hannequin D, Sedel F, Depienne C, Camuzat A, Golfier V, Du Boisgueheneuc F, Schottlaender L, Fox NC, Beck J, Mead S, Rossor MN, Hardy J, Revesz T, Brice A, Houlden H. JAMA Neurol.2013 Jul;70(7):875-82

Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. Guerreiro RJ, Lohmann E, Bras JM, Gibbs JR, Rohrer JD, Gurunlian N, Dursun B, Bilgic B, Hanagasi H, Gurvit H, Emre M, Singleton A, Hardy J. JAMA Neurol. 2013 Jan;70(1):78-84

Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease. Bras J, Guerreiro R, Hardy J. Nat Rev Neurosci. 2012 Jun 20;13(7):453-64

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Bras J, Verloes A, Schneider SA, Mole SE, Guerreiro RJ. Hum Mol Genet. 2012 Jun 15;21(12):2646-50

Genome-wide association study reveals genetic risk underlying Parkinson’s disease. Simon-Sanchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D, et al. Nat Genet. 2009 Dec;41(12):1308-12

Book chapters:

Oxford Textbook of Movement Disorders. 978-0-19-960953-6 | 31 October 2013. Jose Bras and John Hardy – Genetic techniques, impact, and diagnostic issues in movement disorders.

Metal Related Neurodegenerative Disease. 9780124105027 | Academic Press Inc. Jose Miguel Bras – Lysosomal Storage Disorders and Iron.

Cognitive Impairment and Dementia in Parkinson’s Disease. 978-0-19-968164-8 | Oxford University Press. Rita Guerreiro and Andrew Singleton – The genetics basis of dementia in Parkinson’s disease.