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Items: 15

1.

Genetic risk for Alzheimer's disease is distinct from genetic risk for amyloid deposition.

Leonenko G, Shoai M, Bellou E, Sims R, Williams J, Hardy J, Escott-Price V; Alzheimer's Disease Neuroimaging Initiative.

Ann Neurol. 2019 Jun 14. doi: 10.1002/ana.25530. [Epub ahead of print]

PMID:
31199530
2.

Polygenic risk and hazard scores for Alzheimer's disease prediction.

Leonenko G, Sims R, Shoai M, Frizzati A, Bossù P, Spalletta G, Fox NC, Williams J; GERAD consortium, Hardy J, Escott-Price V.

Ann Clin Transl Neurol. 2019 Feb 18;6(3):456-465. doi: 10.1002/acn3.716. eCollection 2019 Mar.

3.

Genetic analysis suggests high misassignment rates in clinical Alzheimer's cases and controls.

Escott-Price V, Baker E, Shoai M, Leonenko G, Myers AJ, Huentelman M, Hardy J.

Neurobiol Aging. 2019 May;77:178-182. doi: 10.1016/j.neurobiolaging.2018.12.002. Epub 2019 Jan 22.

PMID:
30851568
4.

Respective roles of migration and social deprivation for virological non-suppression in HIV-infected adults on antiretroviral therapy in France.

Raho-Moussa M, Guiguet M, Michaud C, Honoré P, Palacios C, Boué F, Azghay M, Kansau I, Chambrin V, Kandel T, Favier M, Miekoutima E, Sayre N, Pignon C, Shoai M, Bouchaud O, Abgrall S.

PLoS One. 2019 Mar 7;14(3):e0213019. doi: 10.1371/journal.pone.0213019. eCollection 2019.

5.

Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.

Jansen IE, Savage JE, Watanabe K, Bryois J, Williams DM, Steinberg S, Sealock J, Karlsson IK, Hägg S, Athanasiu L, Voyle N, Proitsi P, Witoelar A, Stringer S, Aarsland D, Almdahl IS, Andersen F, Bergh S, Bettella F, Bjornsson S, Brækhus A, Bråthen G, de Leeuw C, Desikan RS, Djurovic S, Dumitrescu L, Fladby T, Hohman TJ, Jonsson PV, Kiddle SJ, Rongve A, Saltvedt I, Sando SB, Selbæk G, Shoai M, Skene NG, Snaedal J, Stordal E, Ulstein ID, Wang Y, White LR, Hardy J, Hjerling-Leffler J, Sullivan PF, van der Flier WM, Dobson R, Davis LK, Stefansson H, Stefansson K, Pedersen NL, Ripke S, Andreassen OA, Posthuma D.

Nat Genet. 2019 Mar;51(3):404-413. doi: 10.1038/s41588-018-0311-9. Epub 2019 Jan 7.

PMID:
30617256
6.

Polygenic Risk Score Analysis of Alzheimer's Disease in Cases without APOE4 or APOE2 Alleles.

Escott-Price V, Myers A, Huentelman M, Shoai M, Hardy J.

J Prev Alzheimers Dis. 2019;6(1):16-19. doi: 10.14283/jpad.2018.46.

7.

Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype.

Jabbari E, Woodside J, Tan MMX, Shoai M, Pittman A, Ferrari R, Mok KY, Zhang D, Reynolds RH, de Silva R, Grimm MJ, Respondek G, Müller U, Al-Sarraj S, Gentleman SM, Lees AJ, Warner TT, Hardy J, Revesz T, Höglinger GU, Holton JL, Ryten M, Morris HR.

Ann Neurol. 2018 Oct;84(4):485-496. doi: 10.1002/ana.25308. Epub 2018 Sep 15.

8.

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.

Morgan S, Shatunov A, Sproviero W, Jones AR, Shoai M, Hughes D, Al Khleifat A, Malaspina A, Morrison KE, Shaw PJ, Shaw CE, Sidle K, Orrell RW, Fratta P, Hardy J, Pittman A, Al-Chalabi A.

Brain. 2017 Jun 1;140(6):1611-1618. doi: 10.1093/brain/awx082.

9.

ATXN2 trinucleotide repeat length correlates with risk of ALS.

Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones AR, Al-Sarraj S, Andersen PM, Bonini NM, Conforti FL, Van Damme P, Daoud H, Del Mar Amador M, Fogh I, Forzan M, Gaastra B, Gellera C, Gitler AD, Hardy J, Fratta P, La Bella V, Le Ber I, Van Langenhove T, Lattante S, Lee YC, Malaspina A, Meininger V, Millecamps S, Orrell R, Rademakers R, Robberecht W, Rouleau G, Ross OA, Salachas F, Sidle K, Smith BN, Soong BW, Sorarù G, Stevanin G, Kabashi E, Troakes C, van Broeckhoven C, Veldink JH, van den Berg LH, Shaw CE, Powell JF, Al-Chalabi A.

Neurobiol Aging. 2017 Mar;51:178.e1-178.e9. doi: 10.1016/j.neurobiolaging.2016.11.010. Epub 2016 Nov 24.

10.

Polygenic score prediction captures nearly all common genetic risk for Alzheimer's disease.

Escott-Price V, Shoai M, Pither R, Williams J, Hardy J.

Neurobiol Aging. 2017 Jan;49:214.e7-214.e11. doi: 10.1016/j.neurobiolaging.2016.07.018. Epub 2016 Aug 5.

11.

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis.

Morgan S, Shoai M, Fratta P, Sidle K, Orrell R, Sweeney MG, Shatunov A, Sproviero W, Jones A, Al-Chalabi A, Malaspina A, Houlden H, Hardy J, Pittman A.

Neurobiol Aging. 2015 Mar;36(3):1600.e5-8. doi: 10.1016/j.neurobiolaging.2014.12.017. Epub 2014 Dec 20.

PMID:
25588603
12.

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.

Johnson JO, Pioro EP, Boehringer A, Chia R, Feit H, Renton AE, Pliner HA, Abramzon Y, Marangi G, Winborn BJ, Gibbs JR, Nalls MA, Morgan S, Shoai M, Hardy J, Pittman A, Orrell RW, Malaspina A, Sidle KC, Fratta P, Harms MB, Baloh RH, Pestronk A, Weihl CC, Rogaeva E, Zinman L, Drory VE, Borghero G, Mora G, Calvo A, Rothstein JD; ITALSGEN, Drepper C, Sendtner M, Singleton AB, Taylor JP, Cookson MR, Restagno G, Sabatelli M, Bowser R, Chiò A, Traynor BJ.

Nat Neurosci. 2014 May;17(5):664-666. doi: 10.1038/nn.3688. Epub 2014 Mar 30.

13.

Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis.

Fratta P, Charnock J, Collins T, Devoy A, Howard R, Malaspina A, Orrell R, Sidle K, Clarke J, Shoai M, Lu CH, Hardy J, Plagnol V, Fisher EM.

J Neurol Neurosurg Psychiatry. 2014 May;85(5):506-8. doi: 10.1136/jnnp-2013-306761. Epub 2013 Dec 5.

14.

Validation of next-generation sequencing technologies in genetic diagnosis of dementia.

Beck J, Pittman A, Adamson G, Campbell T, Kenny J, Houlden H, Rohrer JD, de Silva R, Shoai M, Uphill J, Poulter M, Hardy J, Mummery CJ, Warren JD, Schott JM, Fox NC, Rossor MN, Collinge J, Mead S.

Neurobiol Aging. 2014 Jan;35(1):261-5. doi: 10.1016/j.neurobiolaging.2013.07.017. Epub 2013 Aug 31.

PMID:
23998997
15.

The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.

Duran R, Mencacci NE, Angeli AV, Shoai M, Deas E, Houlden H, Mehta A, Hughes D, Cox TM, Deegan P, Schapira AH, Lees AJ, Limousin P, Jarman PR, Bhatia KP, Wood NW, Hardy J, Foltynie T.

Mov Disord. 2013 Feb;28(2):232-236. doi: 10.1002/mds.25248. Epub 2012 Dec 5.

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