P
P Roques
Researcher at Imperial College London
Publications - 36
Citations - 12906
P Roques is an academic researcher from Imperial College London. The author has contributed to research in topics: Alzheimer's disease & Dementia. The author has an hindex of 24, co-authored 36 publications receiving 12503 citations. Previous affiliations of P Roques include St Mary's Hospital.
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Journal ArticleDOI
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease.
Alison Goate,Marie-Christine Chartier-Harlin,Michael Mullan,Jeremy P Brown,Fiona Crawford,Liana Fidani,L. Giuffra,Andrew Haynes,N.G. Irving,Louise James,R. Mant,Phillippa Newton,Karen Rooke,P Roques,Christopher Talbot,Margaret A. Pericak-Vance,Alien D. Roses,Robert Williamson,Martin N. Rossor,Michael John Owen,John Hardy +20 more
TL;DR: A locus segregating with familial Alzheimer's disease (AD) has been mapped to chromosome 21, close to the amyloid precursor protein (APP) gene as discussed by the authors, which suggests that some cases of AD could be caused by mutations in the APP gene.
Segregation of a missense mutation in the amyloid precursor protein gene with familial alzheimers-disease
A. Goate,M-C. Chartier-Harlin,Michael Mullan,J Brown,Fiona Crawford,Liana Fidani,L Giuffra,A. Haynes,N Irving,L James,R Mant,P. J. Newton,K Rooke,P Roques,C. Conover Talbot,Pericak-Vance Margareta A,A. Roses,Robert Williamson,Martin N. Rossor,M. J. Owen,John Hardy +20 more
TL;DR: It is demonstrated that in this kindred, which shows linkage to chromosome 21 markers, there is a point mutation in the APP gene that causes an amino-acid substitution close to the carboxy terminus of the β-amyloid peptide.
Journal ArticleDOI
Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene
Marie-Christine Chartier-Harlin,Fiona Crawford,Henry Houlden,Andrew Warren,David Hughes,Liana Fidani,Alison Goate,Martin N. Rossor,P Roques,John Hardy,Michael Mullan +10 more
TL;DR: The occurrence of a second allelic variant at codon 717 linked to the Alzheimer's phenotype supports the hypothesis that they are pathogenic mutations.
Journal ArticleDOI
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families
Robert Clark,Mike Hutton,Rebecca A. Fuldner,Sue Froelich,Eric Karran,Christopher Talbot,Richard Crook,Corinne Lendon,Guy Prihar,C He,Kevin M. Korenblat,Alonso Martínez,Alonso Martínez,Michelle Wragg,F. Busfield,Maria I. Behrens,Amanda J. Myers,Joanne Norton,John C. Morris,N Mehta,Chad G. Pearson,Sarah Lincoln,M Baker,Karen Duff,C Zehr,Jordi Pérez-Tur,Harry Houlden,Adriana Ruiz,Jorge Ossa,Francisco Lopera,M. Arcos,Lucia Madrigal,John Collinge,C Humphreys,T Ashworth,S Sarner,Nick C. Fox,R Harvey,A Kennedy,P Roques,Cline Rt,Phillips Ca,Venter Jc,Lotta Forsell,Karin Axelman,Lena Lilius,Janet A. Johnston,R Cowburn,Matti Viitanen,Bengt Winblad,Ken Kosik,Matti Haltia,Minna Pöyhönen,Dennis W. Dickson,David G. Mann,D Neary,Julie S. Snowden,Peter L. Lantos,Lars Lannfelt,Martin N. Rossor,George Roberts,Mark Raymond Adams,John Hardy,Alison Goate +63 more
TL;DR: This work has localized the PS-1 gene to a 75 kb region and present the structure of this gene, evidence for alternative splicing and describe six novel mutations in early onset FAD pedigrees all of which alter residues conserved in the STM26 (Presenilin 2: PS-2) gene.
Journal ArticleDOI
Apolipoprotein E, epsilon 4 allele as a major risk factor for sporadic early and late-onset forms of Alzheimer's disease: analysis of the 19q13.2 chromosomal region.
Marie-Christine Chartier-Harlin,M. Parfitt,M. Parfitt,Legrain S,Jordi Pérez-Tur,Thierry Brousseau,Alun Evans,Claudine Berr,O. Vidal,P Roques,Gourlet +10 more
TL;DR: A significant increased frequency of the APOE epsilon 4 allele is observed in late-onset and early-onsets of Alzheimer's disease with ages at onset less than 60 and less than 65, suggesting a possible protective effect.