Research & Literature

Longitudinal assessment of neuroimaging and clinical markers in autosomal dominant Alzheimer's disease: a prospective cohort study.

Yau WW, Tudorascu DL, McDade EM, et al.

The Lancet. Neurology 2015; (14(8)):804-813 doi:10.1016/S1474-4422(15)00135-0.

Autosomal Dominant Alzheimer Disease: A Unique Resource to Study CSF Biomarker Changes in Preclinical AD.

Schindler SE, Fagan AM

Frontiers in neurology 2015; (6()):142 doi:10.3389/fneur.2015.00142.

A Case for Inclusion of Genetic Counselors in Cardiac Care.

Arscott P, Caleshu C, Kotzer K, et al.

Cardiology in review 2016; (24(2)):49-55 doi:10.1097/CRD.0000000000000081.

A survey of attitudes toward clinical trials and genetic disclosure in autosomal dominant Alzheimer's disease.

Grill JD, Bateman RJ, Buckles V, et al.

Alzheimer's research & therapy 2015; (7(1)):50 doi:10.1186/s13195-015-0135-0.

Determining Possible Professionals and Respective Roles and Responsibilities for a Model Comprehensive Elder Abuse Intervention: A Delphi Consensus Survey.

Du Mont J, Kosa D, Macdonald S, et al.

PloS one 2015; (10(12)):e0140760 doi:10.1371/journal.pone.0140760.

APP Receptor? To Be or Not To Be.

Deyts C, Thinakaran G, Parent AT

Trends in pharmacological sciences 2016; (37(5)):390-411 doi:10.1016/j.tips.2016.01.005.

Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol.

Bocchetta M, Mega A, Bernardi L, et al.

Journal of Alzheimer's disease : JAD 2016; (51(1)):277-91 doi:10.3233/JAD-150849.

The DIAN-TU Next Generation Alzheimer's prevention trial: Adaptive design and disease progression model.

Bateman RJ, Benzinger TL, Berry S, et al.

Alzheimer's & dementia : the journal of the Alzheimer's Association 2017; (13(1)):8-19 doi:10.1016/j.jalz.2016.07.005.

A Multidisciplinary Model of Dementia Care in an Underserved Retirement Community, Made Possible by Telemedicine.

Tso JV, Farinpour R, Chui HC, Liu CY

Frontiers in neurology 2016; (7()):225 doi:10.3389/fneur.2016.00225.

Elaboration of the Reciprocal-Engagement Model of Genetic Counseling Practice: a Qualitative Investigation of Goals and Strategies.

Redlinger-Grosse K, Veach PM, LeRoy BS, Zierhut H

Journal of genetic counseling 2017; (26(6)):1372-1387 doi:10.1007/s10897-017-0114-7.

Subjects at Risk for Genetic Late-Onset Neurological Diseases: Objective Knowledge.

Leite Â, Leite F, Dinis MAP

Public health genomics 2017; (20(3)):158-165 doi:10.1159/000479292.

Activation of γ-Secretase Trimming Activity by Topological Changes of Transmembrane Domain 1 of Presenilin 1.

Cai T, Yonaga M, Tomita T

The Journal of neuroscience : the official journal of the Society for Neuroscience 2017; (37(50)):12272-12280 doi:10.1523/JNEUROSCI.1628-17.2017.

The Effect of Predictive Testing in Adult-Onset Neurodegenerative Diseases on Social and Personal Life.

Cohn-Hokke PE, van Swieten JC, Pijnenburg YAL, et al.

Journal of genetic counseling 2018; (27(4)):947-954 doi:10.1007/s10897-017-0195-3.

Use of preimplantation genetic testing for monogenic defects (PGT-M) for adult-onset conditions: an Ethics Committee opinion.

,

Fertility and sterility 2018; (109(6)):989-992 doi:10.1016/j.fertnstert.2018.04.003.

Development of the transition-age program (TAP): Review of a pilot psychosocial multidisciplinary transition program in a Level 4 epilepsy center.

Reger KL, Hughes-Scalise A, O'Connor MA

Epilepsy & behavior : E&B 2018; (89()):153-158 doi:10.1016/j.yebeh.2018.10.021.

Assessment and management of cognitive problems in people with multiple sclerosis: A National Survey of Clinical Practice.

Klein OA, das Nair R, Ablewhite J, Drummond A

International journal of clinical practice 2018; e13300 doi:10.1111/ijcp.13300.

Simultaneously evaluating the effect of baseline levels and longitudinal changes in disease biomarkers on cognition in dominantly inherited Alzheimer's disease.

Wang G, Xiong C, McDade EM, et al.

Alzheimer's & dementia (New York, N. Y.) 2018; (4()):669-676 doi:10.1016/j.trci.2018.10.009.

Serum neurofilament dynamics predicts neurodegeneration and clinical progression in presymptomatic Alzheimer's disease.

Preische O, Schultz SA, Apel A, et al.

Nature medicine 2019; (25(2)):277-283 doi:10.1038/s41591-018-0304-3.

Biological and Cognitive Markers of Presenilin1 E280A Autosomal Dominant Alzheimer's Disease: A Comprehensive Review of the Colombian Kindred.

Fuller JT, Cronin-Golomb A, Gatchel JR, et al.

The journal of prevention of Alzheimer's disease 2019; (6(2)):112-120 doi:10.14283/jpad.2019.6.

Clinical, pathophysiological and genetic features of motor symptoms in autosomal dominant Alzheimer's disease.

Vöglein J, Paumier K, Jucker M, et al.

Brain : a journal of neurology 2019; (142(5)):1429-1440 doi:10.1093/brain/awz050.

APP-Mediated Signaling Prevents Memory Decline in Alzheimer's Disease Mouse Model.

Deyts C, Clutter M, Pierce N, et al.

Cell reports 2019; (27(5)):1345-1355.e6 doi:10.1016/j.celrep.2019.03.087.

Anti-Tau Trials for Alzheimer's Disease: A Report from the EU/US/CTAD Task Force.

Cummings J, Blennow K, Johnson K, et al.

The journal of prevention of Alzheimer's disease 2019; (6(3)):157-163 doi:10.14283/jpad.2019.14.

Do BACE inhibitor failures in Alzheimer patients challenge the amyloid hypothesis of the disease?

Panza F, Lozupone M, Watling M, Imbimbo BP

Expert review of neurotherapeutics 2019; (19(7)):599-602 doi:10.1080/14737175.2019.1621751.

A mixed-methods study of cultural beliefs about dementia and genetic testing among Mexicans and Mexican-Americans at-risk for autosomal dominant Alzheimer's disease.

Withers M, Sayegh P, Rodriguez-Agudelo Y, et al.

Journal of genetic counseling 2019; (28(5)):921-932 doi:10.1002/jgc4.1133.

Robust Preimplantation Genetic Testing Strategy for Myotonic Dystrophy Type 1 by Bidirectional Triplet-Primed Polymerase Chain Reaction Combined With Multi-microsatellite Haplotyping Following Whole-Genome Amplification.

Lian M, Lee CG, Chong SS

Frontiers in genetics 2019; (10()):589 doi:10.3389/fgene.2019.00589.

Evaluating empowerment in genetic counseling using patient-reported outcomes.

Yuen J, Lee SY, Courtney E, et al.

Clinical genetics 2020; (97(2)):246-256 doi:10.1111/cge.13646.

Suicidal ideation is common in autosomal dominant Alzheimer's disease at-risk persons.

Ng KP, Richard-Devantoy S, Bertrand JA, et al.

International journal of geriatric psychiatry 2020; (35(1)):60-68 doi:10.1002/gps.5215.

NLRP3 inflammasome activation drives tau pathology.

Ising C, Venegas C, Zhang S, et al.

Nature 2019; (575(7784)):669-673 doi:10.1038/s41586-019-1769-z.

Fetal Genetic Diagnosis by Chorionic Villus Sampling: Evaluation of the Five-Year Experience from a Single Center.

Öztürk FH, Öcal FD, Erol SA, et al.

Fetal and pediatric pathology 2021; (40(4)):281-289 doi:10.1080/15513815.2019.1707919.

The role of the neuropsychologist in memory clinics.

Salvadori E, Pantoni L,

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2020; (41(6)):1483-1488 doi:10.1007/s10072-020-04253-4.

Pre-clinical characterisation of E2814, a high-affinity antibody targeting the microtubule-binding repeat domain of tau for passive immunotherapy in Alzheimer's disease.

Roberts M, Sevastou I, Imaizumi Y, et al.

Acta neuropathologica communications 2020; (8(1)):13 doi:10.1186/s40478-020-0884-2.

Baseline demographic, clinical, and cognitive characteristics of the Alzheimer's Prevention Initiative (API) Autosomal-Dominant Alzheimer's Disease Colombia Trial.

Rios-Romenets S, Lopera F, Sink KM, et al.

Alzheimer's & dementia : the journal of the Alzheimer's Association 2020; (16(7)):1023-1030 doi:10.1002/alz.12109.

Clinical and biomarker changes of Alzheimer's disease in adults with Down syndrome: a cross-sectional study.

Fortea J, Vilaplana E, Carmona-Iragui M, et al.

Lancet (London, England) 2020; (395(10242)):1988-1997 doi:10.1016/S0140-6736(20)30689-9.

Discriminative Accuracy of Plasma Phospho-tau217 for Alzheimer Disease vs Other Neurodegenerative Disorders.

Palmqvist S, Janelidze S, Quiroz YT, et al.

JAMA 2020; (324(8)):772-781 doi:10.1001/jama.2020.12134.

Clinical and biomarker trajectories in sporadic Alzheimer's disease: A longitudinal study.

Wang HF, Shen XN, Li JQ, et al.

Alzheimer's & dementia (Amsterdam, Netherlands) 2020; (12(1)):e12095 doi:10.1002/dad2.12095.

Preimplantation Genetic Testing for Monogenic Kidney Disease.

Snoek R, Stokman MF, Lichtenbelt KD, et al.

Clinical journal of the American Society of Nephrology : CJASN 2020; (15(9)):1279-1286 doi:10.2215/CJN.03550320.

Epidemiology of early onset dementia and its clinical presentations in the province of Modena, Italy.

Chiari A, Vinceti G, Adani G, et al.

Alzheimer's & dementia : the journal of the Alzheimer's Association 2021; (17(1)):81-88 doi:10.1002/alz.12177.

Genetics of dementia: insights from Latin America.

Ramos C, Aguillon D, Cordano C, Lopera F

Dementia & neuropsychologia 2020; (14(3)):223-236 doi:10.1590/1980-57642020dn14-030004.

Utilization of preimplantation genetic testing for monogenic disorders.

Lee I, Alur-Gupta S, Gallop R, Dokras A

Fertility and sterility 2020; (114(4)):854-860 doi:10.1016/j.fertnstert.2020.05.045.

Predictive testing for neurodegenerative diseases in the age of next-generation sequencing.

Goldman J, Xie S, Green D, et al.

Journal of genetic counseling 2020; doi:10.1002/jgc4.1342.

A Successful Case for Deselection of Albino Embryo and Live Birth of Albinism-Free Healthy Baby Followed by PGT-M.

Patel N, Bhadarka HK, Vaniawala S, Patel A

Journal of human reproductive sciences 2020; (13(3)):245-248 doi:10.4103/jhrs.JHRS_38_19.

Pregnancy Loss After Amniocentesis and Chorionic Villus Sampling: Cohort Study.

Likar IP, Jere KS, Možina T, et al.

Zdravstveno varstvo 2020; (60(1)):25-29 doi:10.2478/sjph-2021-0005.

Can Anti-β-amyloid Monoclonal Antibodies Work in Autosomal Dominant Alzheimer Disease?

Imbimbo BP, Lucca U, Watling M

Neurology. Genetics 2021; (7(1)):e535 doi:10.1212/NXG.0000000000000535.

An APP ectodomain mutation outside of the Aβ domain promotes Aβ production in vitro and deposition in vivo.

Zhang X, Zhang CM, Prokopenko D, et al.

The Journal of experimental medicine 2021; (218(6)) doi:10.1084/jem.20210313.

Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease.

Chelban V, Breza M, Szaruga M, et al.

Alzheimer's & dementia (Amsterdam, Netherlands) 2021; (13(1)):e12186 doi:10.1002/dad2.12186.

A trial of gantenerumab or solanezumab in dominantly inherited Alzheimer's disease.

Salloway S, Farlow M, McDade E, et al.

Nature medicine 2021; (27(7)):1187-1196 doi:10.1038/s41591-021-01369-8.

Pattern and degree of individual brain atrophy predicts dementia onset in dominantly inherited Alzheimer's disease.

Keret O, Staffaroni AM, Ringman JM, et al.

Alzheimer's & dementia (Amsterdam, Netherlands) 2021; (13(1)):e12197 doi:10.1002/dad2.12197.

Comparison of CSF biomarkers in Down syndrome and autosomal dominant Alzheimer's disease: a cross-sectional study.

Fagan AM, Henson RL, Li Y, et al.

The Lancet. Neurology 2021; (20(8)):615-626 doi:10.1016/S1474-4422(21)00139-3.

A Case of Early-Onset Alzheimer's Disease Mimicking Schizophrenia in a Patient with Presenilin 1 Mutation (S170P).

Kim HR, Jang JH, Ham H, et al.

Journal of Alzheimer's disease : JAD 2021; (83(3)):1025-1031 doi:10.3233/JAD-210650.

A decision tree model for predicting live birth in FMR1 premutation carriers undergoing preimplantation genetic testing for monogenic/single gene defects.

Cohen Y, Nattiv N, Avrham S, et al.

Reproductive biomedicine online 2021; (43(4)):680-686 doi:10.1016/j.rbmo.2021.06.009.

Alzheimer's disease associated with Down syndrome: a genetic form of dementia.

Fortea J, Zaman SH, Hartley S, et al.

The Lancet. Neurology 2021; (20(11)):930-942 doi:10.1016/S1474-4422(21)00245-3.

Different rates of cognitive decline in autosomal dominant and late-onset Alzheimer disease.

Buckles VD, Xiong C, Bateman RJ, et al.

Alzheimer's & dementia : the journal of the Alzheimer's Association 2022; (18(10)):1754-1764 doi:10.1002/alz.12505.

Association of BDNF Val66Met With Tau Hyperphosphorylation and Cognition in Dominantly Inherited Alzheimer Disease.

Lim YY, Maruff P, Barthélemy NR, et al.

JAMA neurology 2022; (79(3)):261-270 doi:10.1001/jamaneurol.2021.5181.

Testing the amyloid cascade hypothesis: Prevention trials in autosomal dominant Alzheimer disease.

Levin J, Vöglein J, Quiroz YT, et al.

Alzheimer's & dementia : the journal of the Alzheimer's Association 2022; (18(12)):2687-2698 doi:10.1002/alz.12624.

The congruency of neuropsychological and F18-FDG brain PET/CT diagnostics of Alzheimer's Disease (AD) in routine clinical practice: insights from a mixed neurological patient cohort.

Hansen S, Keune J, Küfner K, et al.

BMC neurology 2022; (22(1)):83 doi:10.1186/s12883-022-02614-4.

Psychological Impact of Predictive Genetic Testing for Inherited Alzheimer Disease and Frontotemporal Dementia: The IT-DIAfN Protocol.

Galluzzi S, Mega A, Di Fede G, et al.

Alzheimer disease and associated disorders 2022; (36(2)):118-124 doi:10.1097/WAD.0000000000000494.

Targeting γ-Secretase for Familial Alzheimer's Disease.

Wolfe MS

Medicinal chemistry research : an international journal for rapid communications on design and mechanisms of action of biologically active agents 2021; (30(7)):1321-1327 doi:10.1007/s00044-021-02744-3.

Autosomal dominant and sporadic late onset Alzheimer's disease share a common in vivo pathophysiology.

Morris JC, Weiner M, Xiong C, et al.

Brain : a journal of neurology 2022; (145(10)):3594-3607 doi:10.1093/brain/awac181.

Differentiating amyloid beta spread in autosomal dominant and sporadic Alzheimer's disease.

Levitis E, Vogel JW, Funck T, et al.

Brain communications 2022; (4(3)):fcac085 doi:10.1093/braincomms/fcac085.

Combined Preimplantation Genetic Testing for Genetic Kidney Disease: Genetic Risk Identification, Assisted Reproductive Cycle, and Pregnancy Outcome Analysis.

Xiao M, Shi H, Rao J, et al.

Frontiers in medicine 2022; (9()):936578 doi:10.3389/fmed.2022.936578.

Examining the effect of patient personality types and coping styles on outcomes of genetic counseling.

Salman A, Morris E, Inglis A, Austin J

Journal of genetic counseling 2023; (32(1)):68-78 doi:10.1002/jgc4.1623.

Earlier Alzheimer's disease onset is associated with tau pathology in brain hub regions and facilitated tau spreading.

Frontzkowski L, Ewers M, Brendel M, et al.

Nature communications 2022; (13(1)):4899 doi:10.1038/s41467-022-32592-7.

Evaluation of dose-dependent treatment effects after mid-trial dose escalation in biomarker, clinical, and cognitive outcomes for gantenerumab or solanezumab in dominantly inherited Alzheimer's disease.

Wang G, Li Y, Xiong C, et al.

Alzheimer's & dementia (Amsterdam, Netherlands) 2022; (14(1)):e12367 doi:10.1002/dad2.12367.

ESHRE PGT Consortium data collection XXI: PGT analyses in 2018.

Spinella F, Bronet F, Carvalho F, et al.

Human reproduction open 2023; (2023(2)):hoad010 doi:10.1093/hropen/hoad010.

Resilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS heterozygous man.

Lopera F, Marino C, Chandrahas AS, et al.

Nature medicine 2023; (29(5)):1243-1252 doi:10.1038/s41591-023-02318-3.

Positron emission tomography and magnetic resonance imaging methods and datasets within the Dominantly Inherited Alzheimer Network (DIAN).

McKay NS, Gordon BA, Hornbeck RC, et al.

Nature neuroscience 2023; (26(8)):1449-1460 doi:10.1038/s41593-023-01359-8.

Application of the PGT-M strategy using single sperm and/or affected embryos as probands for linkage analysis in males with hereditary tumor syndromes without family history.

Chen X, Wang Y, Guan S, et al.

Journal of human genetics 2023; (68(12)):813-821 doi:10.1038/s10038-023-01188-4.

Accelerating Alzheimer's therapeutic development: The past and future of clinical trials.

Boxer AL, Sperling R

Cell 2023; (186(22)):4757-4772 doi:10.1016/j.cell.2023.09.023.

Public Awareness and Acceptability of PGT-M in Cancer Predisposition Syndromes.

Calosci D, Passaglia L, Gabbiato I, et al.

Genes 2023; (14(11)) doi:10.3390/genes14112069.

Preimplantation Genetic Testing for Genetic Diseases: Limits and Review of Current Literature.

Giuliano R, Maione A, Vallefuoco A, et al.

Genes 2023; (14(11)) doi:10.3390/genes14112095.

Quantitative comparison of presenilin protein expression reveals greater activity of PS2-γ-secretase.

Eccles MK, Main N, Carlessi R, et al.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2024; (38(1)):e23396 doi:10.1096/fj.202300954RR.

Genetic counseling for pre-implantation genetic testing of monogenic disorders (PGT-M).

Parikh F, Athalye A, Madon P, et al.

Frontiers in reproductive health 2023; (5()):1213546 doi:10.3389/frph.2023.1213546.

A review of the flortaucipir literature for positron emission tomography imaging of tau neurofibrillary tangles.

Burnham SC, Iaccarino L, Pontecorvo MJ, et al.

Brain communications 2024; (6(1)):fcad305 doi:10.1093/braincomms/fcad305.

Heparan sulfate modified proteins affect cellular processes central to neurodegeneration and modulate presenilin function.

Schultheis N, Connell A, Kapral A, et al.

bioRxiv : the preprint server for biology 2024; doi:10.1101/2024.01.23.576895.

Presenilin: A Multi-Functional Molecule in the Pathogenesis of Alzheimer's Disease and Other Neurodegenerative Diseases.

Sun Y, Islam S, Michikawa M, Zou K

International journal of molecular sciences 2024; (25(3)) doi:10.3390/ijms25031757.

Molecular neuroimaging in dominantly inherited versus sporadic early-onset Alzheimer's disease.

Iaccarino L, Llibre-Guerra JJ, McDade E, et al.

Brain communications 2024; (6(3)):fcae159 doi:10.1093/braincomms/fcae159.

Use of preimplantation genetic testing for monogenic adult-onset conditions: an Ethics Committee opinion.

Fertility and sterility 2024; (122(4)):607-611 doi:10.1016/j.fertnstert.2024.05.165.

BACE1 inhibitor drugs for the treatment of Alzheimer's disease: Lessons learned, challenges to overcome, and future prospects†.

Ghosh AK

Global health & medicine 2024; (6(3)):164-168 doi:10.35772/ghm.2024.01033.

The role of the Alzheimer's Disease Neuroimaging Initiative in establishing the Dominantly Inherited Alzheimer Network.

Morris JC, Buckles VD

Alzheimer's & dementia : the journal of the Alzheimer's Association 2024; (20(8)):5789-5791 doi:10.1002/alz.14106.

Comorbid neuropathology and atypical presentation of Alzheimer's disease.

Pina-Escudero SD, La Joie R, Spina S, et al.

Alzheimer's & dementia (Amsterdam, Netherlands) 2024; (16(3)):e12602 doi:10.1002/dad2.12602.

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).

Schultz SA, Liu L, Schultz AP, et al.

The Lancet. Neurology 2024; (23(9)):913-924 doi:10.1016/S1474-4422(24)00236-9.

Preimplantation Genetic Testing of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease-Robust Tools for Direct and Indirect Detection of the ATXN3 (CAG)n Repeat Expansion.

Lian M, Tan VJ, Taguchi R, et al.

International journal of molecular sciences 2024; (25(15)) doi:10.3390/ijms25158073.

15 Years of Longitudinal Genetic, Clinical, Cognitive, Imaging, and Biochemical Measures in DIAN.

Daniels AJ, McDade E, Llibre-Guerra JJ, et al.

medRxiv : the preprint server for health sciences 2024; doi:10.1101/2024.08.08.24311689.

Receiving a Pathogenic Variant in a Population Breast Cancer Screening Trial: A Mixed Method Study.

Riddle L, James JE, Naeim A, et al.

Public health genomics 2024; (27(1)):177-196 doi:10.1159/000540680.

Head-to-head comparison of leading blood tests for Alzheimer's disease pathology.

Schindler SE, Petersen KK, Saef B, et al.

Alzheimer's & dementia : the journal of the Alzheimer's Association 2024; (20(11)):8074-8096 doi:10.1002/alz.14315.

Plasma p-tau217 in Alzheimer's disease: Lumipulse and ALZpath SIMOA head-to-head comparison.

Pilotto A, Quaresima V, Trasciatti C, et al.

Brain : a journal of neurology 2025; (148(2)):408-415 doi:10.1093/brain/awae368.

Diagnostic accuracy of phosphorylated tau217 in detecting Alzheimer's disease pathology among cognitively impaired and unimpaired: A systematic review and meta-analysis.

Khalafi M, Dartora WJ, McIntire LBJ, et al.

Alzheimer's & dementia : the journal of the Alzheimer's Association 2025; (21(2)):e14458 doi:10.1002/alz.14458.

Functional network disruption in cognitively unimpaired autosomal dominant Alzheimer's disease: a magnetoencephalography study.

van Nifterick AM, de Haan W, Stam CJ, et al.

Brain communications 2024; (6(6)):fcae423 doi:10.1093/braincomms/fcae423.

Updated Appropriate Use Criteria for Amyloid and Tau PET: A Report from the Alzheimer's Association and Society for Nuclear Medicine and Molecular Imaging Workgroup.

Rabinovici GD, Knopman DS, Arbizu J, et al.

Journal of nuclear medicine : official publication, Society of Nuclear Medicine 2025; (66(Suppl 2)):S5-S31 doi:10.2967/jnumed.124.268756.

Preimplantation genetic testing for four families with severe combined immunodeficiency: Three unaffected livebirths.

Zhang L, Feng L, Shi H, et al.

Orphanet journal of rare diseases 2025; (20(1)):14 doi:10.1186/s13023-024-03525-y.

Clinical characteristics and biomarker profile in early- and late-onset Alzheimer's disease: the Shanghai Memory Study.

Wu J, Wang J, Xiao Z, et al.

Brain communications 2025; (7(1)):fcaf015 doi:10.1093/braincomms/fcaf015.

Evaluating pathogenicity of variants of unknown significance in APP, PSEN1, and PSEN2.

Marsh JA, Huang G, Bowling K, et al.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2025; (22(3)):e00527 doi:10.1016/j.neurot.2025.e00527.

Consecutive 5-year outcomes of chorionic villus sampling at a tertiary center.

Kuyucu M, Erdogan KM, Adiyaman D, et al.

Medicine 2025; (104(7)):e41582 doi:10.1097/MD.0000000000041582.

Investigating the Aβ and tau pathology in autosomal dominant Alzheimer's disease: insights from hybrid PET/MRI and network mapping.

Zhou Z, Wang Q, Liu L, et al.

Alzheimer's research & therapy 2025; (17(1)):45 doi:10.1186/s13195-025-01690-1.

IVF success rates in individuals accessing preimplantation genetic testing for monogenic conditions (PGT-M): a single centre retrospective cohort study of 572 IVF cycles.

Poulton A, Menezes M, Hardy T, et al.

Journal of assisted reproduction and genetics 2025; (42(5)):1567-1576 doi:10.1007/s10815-025-03416-6.

Sample size estimates for biomarker-based outcome measures in clinical trials in autosomal dominant Alzheimer's disease.

Cash DM, Morgan KE, O'Connor A, et al.

The journal of prevention of Alzheimer's disease 2025; (12(6)):100133 doi:10.1016/j.tjpad.2025.100133.

Safety and efficacy of long-term gantenerumab treatment in dominantly inherited Alzheimer's disease: an open-label extension of the phase 2/3 multicentre, randomised, double-blind, placebo-controlled platform DIAN-TU trial.

Bateman RJ, Li Y, McDade EM, et al.

The Lancet. Neurology 2025; (24(4)):316-330 doi:10.1016/S1474-4422(25)00024-9.

An attractive alternative to prenatal diagnosis: a case report of preimplantation genetic testing in familial cardiomyopathy.

Pandey S, Khandhedia P

AJOG global reports 2025; (5(2)):100476 doi:10.1016/j.xagr.2025.100476.

Protective Genes Against Alzheimer's Disease: Case Review and Therapeutic Implications.

Hossain N, Jeong Y

Dementia and neurocognitive disorders 2025; (24(2)):75-90 doi:10.12779/dnd.2025.24.2.75.

Protocol considerations for multigenerational blinding of preimplantation genetic testing for a monogenic condition for Huntington disease: a case report.

Raine S, Siegel DR, Rabkina L, et al.

F&S reports 2025; (6(2)):201-205 doi:10.1016/j.xfre.2025.03.007.

ApoE3 Christchurch and tau interaction as a protective mechanism against Alzheimer's disease.

Perez-Corredor P, Arevalo-Alquichire S, Mazzarino RC, et al.

Alzheimer's & dementia : the journal of the Alzheimer's Association 2025; (21(7)):e70396 doi:10.1002/alz.70396.

Regional effects of gantenerumab on neuroimaging biomarkers in the DIAN-TU-001 trial.

McCullough A, Chen CD, Gordon BA, et al.

Alzheimer's & dementia : the journal of the Alzheimer's Association 2025; (21(7)):e70347 doi:10.1002/alz.70347.

Accuracy and Safety of Late Chorionic Villus Sampling in High-Risk Pregnancies in 8599 Cases.

Podobnik P, Podobnik M, Bertovic-Zunec I, et al.

Genes 2025; (16(8)) doi:10.3390/genes16080860.

Next-generation neurotherapeutics: mechanistic insights on monoclonal antibodies in Alzheimer's disease.

Sharma A, Singh TG

Brain research 2026; (1870()):150047 doi:10.1016/j.brainres.2025.150047.

Chorionic Villus Sampling in the Era of Genomic Medicine: A Gateway to Early and Personalized Prenatal Diagnosis.

Wysocka U, Stępniewska J, Kozłowska M, et al.

The application of clinical genetics 2026; (19()):567210 doi:10.2147/TACG.S567210.

15 years of longitudinal genetic, clinical, cognitive, imaging, and biochemical measures in DIAN.

Daniels AJ, McDade E, Llibre-Guerra JJ, et al.

NPJ dementia 2026; (2(1)):13 doi:10.1038/s44400-025-00047-7.