Browse by UCL people
Group by: Type | Date
Number of items: 57.
Article
Arber, C;
Lovejoy, C;
Harris, L;
Willumsen, N;
Alatza, A;
Casey, JM;
Lines, G;
... Wray, S; + view all
(2021)
Familial Alzheimer's Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis.
Cell Reports
, 34
(2)
, Article 108615. 10.1016/j.celrep.2020.108615.
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Arber, C;
Toombs, J;
Lovejoy, C;
Ryan, NS;
Paterson, RW;
Willumsen, N;
Gkanatsiou, E;
... Wray, S; + view all
(2020)
Familial Alzheimer’s disease patient-derived neurons reveal distinct mutation-specific effects on amyloid beta.
Molecular Psychiatry
, 25
pp. 2919-2931.
10.1038/s41380-019-0410-8.
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Arber, C;
Villegas-Llerena, C;
Toombs, J;
Pocock, JM;
Ryan, NS;
Fox, NC;
Zetterberg, H;
... Wray, S; + view all
(2019)
Amyloid precursor protein processing in human neurons with an allelic series of the PSEN1 intron 4 deletion mutation and total presenilin-1 knockout.
Brain Communications
10.1093/braincomms/fcz024.
(In press).
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Banerjee, G;
Farmer, SF;
Hyare, H;
Jaunmuktane, Z;
Mead, S;
Ryan, NS;
Schott, JM;
... Collinge, J; + view all
(2024)
Iatrogenic Alzheimer’s disease in recipients of cadaveric pituitary-derived growth hormone.
Nature Medicine
10.1038/s41591-023-02729-2.
(In press).
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Banerjee, Gargi;
Collinge, John;
Fox, Nick C;
Lashley, Tammaryn;
Mead, Simon;
Schott, Jonathan M;
Werring, David J;
(2023)
Clinical considerations in early-onset cerebral amyloid angiopathy.
Brain
10.1093/brain/awad193.
(In press).
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Banerjee, Gargi;
Schott, Jonathan M;
Ryan, Natalie S;
(2024)
Chapter 17 - Familial cerebral amyloid disorders with prominent white matter involvement.
Handbook of Clinical Neurology
, 204
pp. 289-315.
10.1016/B978-0-323-99209-1.00010-7.
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Cash, DM;
Ridgway, GR;
Liang, Y;
Ryan, NS;
Kinnunen, KM;
Yeatman, T;
Malone, IB;
... On behalf of the Dominantly Inherited Alzheimer Network (DIAN), .; + view all
(2013)
The pattern of atrophy in familial Alzheimer disease: Volumetric MRI results from the DIAN study.
Neurology
, 81
(16)
pp. 1425-1433.
10.1212/WNL.0b013e3182a841c6.
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Cash, DM;
Rohrer, JD;
Ryan, NS;
Ourselin, S;
Fox, NC;
(2014)
Imaging endpoints for clinical trials in Alzheimer's disease.
Alzheimer's Research & Therapy
, 6
, Article 87. 10.1186/s13195-014-0087-9.
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Crutch, SJ;
Schott, JM;
Rabinovici, GD;
Murray, M;
Snowden, JS;
van der Flier, WM;
Dickerson, BC;
... Alzheimer's Association ISTAART Atypical Alzheimer's Disease and, .; + view all
(2017)
Consensus classification of posterior cortical atrophy.
Alzheimer's & Dementia
10.1016/j.jalz.2017.01.014.
(In press).
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Crutch, SJ;
Yong, KXX;
Peters, A;
Ocal, D;
Kaski, D;
Gonzalez, AS;
Ryan, N;
... Day, B; + view all
(2018)
Contributions of patient and citizen researchers to 'Am I the right way up?' study of balance in posterior cortical atrophy and typical Alzheimer's disease.
Dementia
, 17
(8)
pp. 1011-1022.
10.1177/1471301218789296.
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Firth, NC;
Primativo, S;
Marinescu, R-V;
Shakespeare, TJ;
Suarez-Gonzalez, A;
Lehmann, M;
Carton, A;
... Crutch, SJ; + view all
(2019)
Longitudinal neuroanatomical and cognitive progression of posterior cortical atrophy.
Brain
, 142
(7)
pp. 2082-2095.
10.1093/brain/awz136.
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Fratta, P;
Poulter, M;
Lashley, T;
Rohrer, JD;
Polke, JM;
Beck, J;
Ryan, N;
... Mead, S; + view all
(2013)
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.
Acta Neuropathologica
, 126
(3)
pp. 401-409.
10.1007/s00401-013-1147-0.
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Keihaninejad, S;
Ryan, NS;
Malone, IB;
Modat, M;
Cash, D;
Ridgway, GR;
Zhang, H;
... Ourselin, S; + view all
(2012)
The importance of group-wise registration in tract based spatial statistics study of neurodegeneration: a simulation study in Alzheimer's disease.
PLOS One
, 7
(11)
, Article e45996. 10.1371/journal.pone.0045996.
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Koriath, CAM;
Kenny, J;
Ryan, NS;
Rohrer, JD;
Schott, JM;
Houlden, H;
Fox, NC;
... Mead, S; + view all
(2021)
Genetic testing in dementia — utility and clinical strategies.
Nature Reviews Neurology
, 17
pp. 23-36.
10.1038/s41582-020-00416-1.
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Kunkle, BW;
Grenier-Boley, B;
Sims, R;
Bis, JC;
Damotte, V;
Naj, AC;
Boland, A;
... Pericak-Vance, MA; + view all
(2019)
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.
Nature Genetics
, 51
pp. 414-430.
10.1038/s41588-019-0358-2.
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Lehmann, M;
Barnes, J;
Ridgway, GR;
Ryan, NS;
Warrington, EK;
Crutch, SJ;
Fox, NC;
(2012)
Global gray matter changes in posterior cortical atrophy: a serial imaging study.
Alzheimer's & Dementia
, 8
(6)
502 - 512.
10.1016/j.jalz.2011.09.225.
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Lehmann, M;
Koedam, EL;
Barnes, J;
Bartlett, JW;
Ryan, NS;
Pijnenburg, YA;
Barkhof, F;
... Fox, NC; + view all
(2012)
Posterior cerebral atrophy in the absence of medial temporal lobe atrophy in pathologically-confirmed Alzheimer's disease.
Neurobiology of Disease
, 33
(3)
627.e1 - 627.e12.
10.1016/j.neurobiolaging.2011.04.003.
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Leonenko, G;
Sims, R;
Shoai, M;
Frizzati, A;
Bossu, P;
Spalletta, G;
Fox, NC;
... Munger, R; + view all
(2019)
Polygenic risk and hazard scores for Alzheimer's disease prediction.
Annals of Clinical and Translational Neurology
, 6
(3)
pp. 456-465.
10.1002/acn3.716.
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Levin, Johannes;
Baiardi, Simone;
Quadalti, Corinne;
Rossi, Marcello;
Mammana, Angela;
Vöglein, Jonathan;
Bernhardt, Alexander;
... Parchi, Piero; + view all
(2024)
α-Synuclein seed amplification assay detects Lewy body co-pathology in autosomal dominant Alzheimer's disease late in the disease course and dependent on Lewy pathology burden.
Alzheimer's & Dementia
10.1002/alz.13818.
(In press).
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Llibre-Guerra, JJ;
Fernandez, MV;
Joseph-Mathurin, N;
Bian, S;
Carter, K;
Li, Y;
Aschenbrenner, AJ;
... Ikeuchi, T; + view all
(2025)
Longitudinal analysis of a dominantly inherited Alzheimer disease mutation carrier protected from dementia.
Nature Medicine
, 31
(4)
pp. 1267-1275.
10.1038/s41591-025-03494-0.
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McNaughton, D;
Knight, W;
Guerreiro, R;
Ryan, N;
Lowe, J;
Poulter, M;
Nicholl, DJ;
... Mead, S; + view all
(2012)
Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series.
Neurobioly of Aging
, 33
(2)
426.e13 - 426.e21.
10.1016/j.neurobiolaging.2010.10.010.
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Michno, Wojciech;
Koutarapu, Srinivas;
Camacho, Rafael;
Toomey, Christina;
Stringer, Katie;
Minta, Karolina;
Ge, Junyue;
... Hanrieder, Jörg; + view all
(2022)
Chemical traits of cerebral amyloid angiopathy in familial British-, Danish-, and non-Alzheimerʼs dementias.
Journal of Neurochemistry
10.1111/jnc.15694.
(In press).
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O'Connor, A;
Abel, E;
Fraser, MR;
Ryan, NS;
Jiménez, DA;
Koriath, C;
Chávez-Gutiérrez, L;
... Fox, NC; + view all
(2021)
A novel presenilin 1 duplication mutation (Ile168dup) causing Alzheimer's disease associated with myoclonus, seizures and pyramidal features.
Neurobiology of Aging
, 103
137.e1-137.e5.
10.1016/j.neurobiolaging.2021.01.032.
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O'Connor, Antoinette;
Abel, Emily;
Benedet, Andrea Lessa;
Poole, Teresa;
Ashton, Nicholas;
Weston, Philip Simon John;
Heslegrave, Amanda J;
... Fox, Nick C; + view all
(2022)
Plasma GFAP in presymptomatic and symptomatic familial Alzheimer's disease: a longitudinal cohort study.
Journal of Neurology, Neurosurgery and Psychiatry
10.1136/jnnp-2022-329663.
(In press).
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O'Connor, Antoinette;
Ryan, Natalie S;
Belder, Christopher RS;
Lynch, David S;
Lahiri, Nayana;
Houlden, Henry;
Rohrer, Jonathan D;
... O'Dowd, Sean; + view all
(2024)
Genetic testing in dementia.
Practical Neurology
10.1136/pn-2024-004241.
(In press).
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O'Connor, A;
Karikari, TK;
Poole, T;
Ashton, NJ;
Rodriguez, JL;
Khatun, A;
Swift, I;
... Fox, NC; + view all
(2020)
Plasma phospho-tau181 in presymptomatic and symptomatic familial Alzheimer's disease: a longitudinal cohort study.
Molecular Psychiatry
10.1038/s41380-020-0838-x.
(In press).
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O'Connor, A;
Pannee, J;
Poole, T;
Arber, C;
Portelius, E;
Swift, IJ;
Heslegrave, AJ;
... Fox, NC; + view all
(2021)
Plasma amyloid-β ratios in autosomal dominant Alzheimer's disease: the influence of genotype.
Brain
10.1093/brain/awab166.
(In press).
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O'Connor, A;
Weston, PSJ;
Pavisic, IM;
Ryan, NS;
Collins, JD;
Lu, K;
Crutch, SJ;
... Oxtoby, NP; + view all
(2020)
Quantitative detection and staging of presymptomatic cognitive decline in familial Alzheimer’s disease: a retrospective cohort analysis.
Alzheimer's Research & Therapy
, 12
, Article 126. 10.1186/s13195-020-00695-2.
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Pavisic, IM;
Nicholas, JM;
O'Connor, A;
Rice, H;
Lu, K;
Fox, NC;
Ryan, NS;
(2020)
Disease duration in autosomal dominant familial Alzheimer disease.
Neurology Genetics
, 6
(5)
, Article e507. 10.1212/nxg.0000000000000507.
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Petit, Dieter;
Fernández, Sara Gutiérrez;
Zoltowska, Katarzyna Marta;
Enzlein, Thomas;
Ryan, Natalie S;
O'Connor, Antoinette;
Szaruga, Maria;
... Chávez-Gutiérrez, Lucía; + view all
(2022)
Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.
Molecular Psychiatry
10.1038/s41380-022-01518-6.
(In press).
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Petit, D;
Hitzenberger, M;
Lismont, S;
Zoltowska, KM;
Ryan, NS;
Mercken, M;
Bischoff, F;
... Chávez-Gutiérrez, L; + view all
(2019)
Extracellular interface between APP and Nicastrin regulates Aβ length and response to γ-secretase modulators.
The EMBO Journal
, Article e101494. 10.15252/embj.2019101494.
(In press).
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Ryan, N.S.;
Rossor, M.N.;
(2010)
Correlating familial Alzheimer’s disease gene mutations with clinical phenotype.
Biomarkers in Medicine
, 4
(1)
pp. 99-112.
10.2217/bmm.09.92.
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Ryan, NS;
Fox, NC;
(2013)
Reply: Implications of presymptomatic change in thalamus and caudate in Alzheimer's disease.
Brain: A Journal of Neurology
, 136
(11)
, Article e259. 10.1093/brain/awt168.
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Ryan, NS;
Keihaninejad, S;
Shakespeare, T;
Lehmann, M;
Crutch, SJ;
Malone, IB;
Thornton, JS;
... Fox, NC; + view all
(2013)
Magnetic resonance imaging evidence for presymptomatic change in thalamus and caudate in familial Alzheimer’s disease.
Brain
10.1093/brain/awt065.
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Ryan, NS;
Lashley, T;
Revesz, T;
Dantu, K;
Fox, NC;
Morris, HR;
(2015)
Spontaneous ARIA (Amyloid-Related Imaging Abnormalities) and Cerebral Amyloid Angiopathy Related Inflammation in Presenilin 1-Associated Familial Alzheimer's Disease.
Journal of Alzheimer's Disease
, 44
(4)
pp. 1069-1074.
10.3233/JAD-142325.
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Ryan, NS;
Nicholas, JM;
Weston, PSJ;
Liang, Y;
Lashley, T;
Guerreiro, R;
Adamson, G;
... Fox, NC; + view all
(2016)
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
LANCET NEUROLOGY
, 15
(13)
pp. 1326-1335.
10.1016/S1474-4422(16)30193-4.
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Ryan, NS;
Shakespeare, TJ;
Lehmann, M;
Keihaninejad, S;
Nicholas, JM;
Leung, KK;
Fox, NC;
(2014)
Motor features in posterior cortical atrophy and their imaging correlates.
Neurobiology of Aging
, 35
(12)
10.1016/j.neurobiolaging.2014.05.028.
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Santos-Mandujano, RA;
Ryan, NS;
Chávez-Gutiérrez, L;
Sánchez-Torres, C;
Meraz-Ríos, MA;
(2020)
Clinical Association of White Matter Hyperintensities Localization in a Mexican Family with Spastic Paraparesis Carrying the PSEN1 A431E Mutation.
Journal of Alzheimer's Disease
, 73
(3)
pp. 1075-1083.
10.3233/JAD-190978.
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Schott, JM;
Crutch, SJ;
Carrasquillo, MM;
Uphill, J;
Shakespeare, TJ;
Ryan, NS;
Yong, KX;
... Mead, S; + view all
(2016)
Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease.
Alzheimer's & Dementia: The Journal of the Alzheimer's Association
10.1016/j.jalz.2016.01.010.
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Schultz, SA;
Liu, L;
Schultz, AP;
Fitzpatrick, CD;
Levin, R;
Bellier, JP;
Shirzadi, Z;
... Dominantly Inherited Alzheimer Network; + view all
(2024)
γ-Secretase activity, clinical features, and biomarkers of autosomal dominant Alzheimer's disease: cross-sectional and longitudinal analysis of the Dominantly Inherited Alzheimer Network observational study (DIAN-OBS).
The Lancet Neurology
, 23
(9)
pp. 913-924.
10.1016/S1474-4422(24)00236-9.
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Shakespeare, TJ;
Kaski, D;
Yong, KX;
Paterson, RW;
Slattery, CF;
Ryan, NS;
Schott, JM;
(2015)
Abnormalities of fixation, saccade and pursuit in posterior cortical atrophy.
Brain
, 138
pp. 1976-1991.
10.1093/brain/awv103.
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Sposito, T;
Preza, E;
Mahoney, CJ;
Setó-Salvia, N;
Ryan, NS;
Morris, HR;
Arber, C;
... Wray, S; + view all
(2015)
Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPT.
Human Molecular Genetics
, 24
(18)
pp. 5260-5269.
10.1093/hmg/ddv246.
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Szaruga, M;
Munteanu, B;
Lismont, S;
Veugelen, S;
Horré, K;
Mercken, M;
Saido, TC;
... Chávez-Gutiérrez, L; + view all
(2017)
Alzheimer's-Causing Mutations Shift Aβ Length by Destabilizing γ-Secretase-Aβn Interactions.
Cell
, 170
(3)
pp. 443-456.
10.1016/j.cell.2017.07.004.
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Szaruga, M;
Veugelen, S;
Benurwar, M;
Lismont, S;
Sepulveda-Falla, D;
Lleo, A;
Ryan, NS;
... Chávez-Gutiérrez, L; + view all
(2015)
Qualitative changes in human γ-secretase underlie familial Alzheimer's disease.
Journal of Experimental Medicine
, 212
(12)
pp. 2003-2013.
10.1084/jem.20150892.
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Tentolouris-Piperas, V;
Ryan, NS;
Thomas, DL;
Kinnunen, KM;
(2017)
Brain imaging evidence of early involvement of subcortical regions in familial and sporadic Alzheimer's disease.
Brain Research
, 1655
pp. 23-32.
10.1016/j.brainres.2016.11.011.
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Walsh, P;
Sudre, CH;
Fiford, CM;
Ryan, NS;
Lashley, T;
Frost, C;
Barnes, J;
(2021)
The age-dependent associations of white matter hyperintensities and neurofilament light in early- and late-stage Alzheimer's disease.
Neurobiology of Aging
, 97
pp. 10-17.
10.1016/j.neurobiolaging.2020.09.008.
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Walsh, P;
Sudre, CH;
Fiford, CM;
Ryan, NS;
Lashley, T;
Frost, C;
Barnes, J;
(2020)
CSF amyloid is a consistent predictor of white matter hyperintensities across the disease course from aging to Alzheimer's disease.
Neurobiology of Aging
, 91
pp. 5-14.
10.1016/j.neurobiolaging.2020.03.008.
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Walton, J;
Ryan, N;
Crutch, S;
Rohrer, JD;
Fox, N;
(2015)
The importance of dementia support groups.
[Letter].
BMJ (Online)
, 351
, Article h3875. 10.1136/bmj.h3875.
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Weston, PS;
Nicholas, JM;
Lehmann, M;
Ryan, NS;
Liang, Y;
Macpherson, K;
Modat, M;
... Fox, NC; + view all
(2016)
Presymptomatic cortical thinning in familial Alzheimer disease: A longitudinal MRI study.
Neurology
, 87
(19)
pp. 2050-2057.
10.1212/WNL.0000000000003322.
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Weston, PSJ;
Poole, T;
Nicholas, JM;
Toussaint, N;
Simpson, IJA;
Modat, M;
Ryan, NS;
... Fox, NC; + view all
(2020)
Measuring cortical mean diffusivity to assess early microstructural cortical change in presymptomatic familial Alzheimer's disease.
Alzheimer's Research & Therapy
, 12
, Article 112. 10.1186/s13195-020-00679-2.
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Weston, PSJ;
Poole, T;
O'Connor, A;
Heslegrave, A;
Ryan, NS;
Liang, Y;
Druyeh, R;
... Fox, NC; + view all
(2019)
Longitudinal measurement of serum neurofilament light in presymptomatic familial Alzheimer's disease.
Alzheimer's Research & Therapy
, 11
, Article 19. 10.1186/s13195-019-0472-5.
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Weston, PSJ;
Poole, T;
Ryan, NS;
Nair, A;
Liang, Y;
Macpherson, K;
Druyeh, R;
... Fox, NC; + view all
(2018)
Accelerated long-term forgetting in presymptomatic Autosomal Dominant Alzheimer's disease: A cross-sectional study.
Lancet Neurology
, 17
(2)
pp. 123-132.
10.1016/S1474-4422(17)30434-9.
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Weston, PSJ;
Poole, T;
Ryan, NS;
Nair, A;
Liang, Y;
Macpherson, K;
Druyeh, R;
... Fox, NC; + view all
(2017)
Serum neurofilament light in familial Alzheimer disease: A marker of early neurodegeneration.
Neurology
, 89
(21)
pp. 2167-2175.
10.1212/WNL.0000000000004667.
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Willumsen, N;
Poole, T;
Nicholas, JM;
Fox, NC;
Ryan, NS;
Lashley, T;
(2021)
Variability in the type and layer distribution of cortical A beta pathology in familial Alzheimer's disease.
Brain Pathology
10.1111/bpa.13009.
(In press).
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Wray, S;
Self, M;
NINDS Parkinson's Disease iPSC Consortium;
NINDS Huntington's Disease iPSC Consortium;
NINDS ALS iPSC Consortium;
Lewis, PA;
Taanman, JW;
... Hardy, J; + view all
(2012)
Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.
PLOS One
, 7
(8)
, Article e43099. 10.1371/journal.pone.0043099.
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Thesis
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Ryan, NS;
(2017)
Phenotypic heterogeneity and preclinical change in familial Alzheimer's disease.
Doctoral thesis , UCL (University College London).
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Willumsen, Nanet;
(2020)
Deciphering pathological heterogeneity in familial Alzheimer’s disease.
Doctoral thesis (Ph.D), UCL (University College London).
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