Correlating familial Alzheimer’s disease gene mutations with clinical phenotype

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Items 101–176 of 176

1. Location of pathogenic variants in PSEN1 impacts progression of cognitive, clinical, and neurodegenerative measures in autosomal‐dominant Alzheimer's disease
   Stephanie A. Schultz, Zahra Shirzadi, Aaron P. Schultz, Lei Liu, Colleen D. Fitzpatrick, Eric McDade, Nicolas R. Barthélemy, Alan Edward Renton, Bianca T. Esposito, Nelly Joseph‐Mathurin et al. · 2023 · Aging Cell
2. Insights From TgF344-AD, a Double Transgenic Rat Model in Alzheimer’s Disease Research
   A Nataraj, Karel Blahna, Karel Ježek · 2025 · Physiological Research
3. Analysis of Genotype-Phenotype Correlations in Patients With Degenerative Dementia Through the Whole Exome Sequencing
   Lin Sun, Jianye Zhang, Ning Su, Shao-Wei Zhang, Feng Yan, Xiang Lin, Jie Yu, Wei Li, Xia Li, S. Xiao · 2021 · Frontiers in Aging Neuroscience
4. Clinical Association of White Matter Hyperintensities Localization in a Mexican Family with Spastic Paraparesis Carrying the PSEN1 A431E Mutation
   Rosalía Santos-Mandujano, Natalie Sarah Ryan, Lucía Chávez‐Gutiérrez, Carmen Sánchez‐Torres, Marco Antonio Meraz‐Ríos · 2019 · Journal of Alzheimer s Disease
5. 15 years of longitudinal genetic, clinical, cognitive, imaging, and biochemical measures in DIAN
   Alisha J. Daniels, Eric McDade, Jorge J. Llibre‐Guerra, Chengjie Xiong, Richard J. Perrin, Laura Ibáñez, Charlene Supnet‐Bell, Carlos Cruchaga, Alison Goate, Alan Edward Renton et al. · 2026 · npj Dementia
6. Gene Therapy for Alzheimer and Parkinson Diseases
   Jasen F. Saad, Fawzy Ali Saad · 2023 · Current Gene Therapy
7. Six mitophagy-related hub genes as peripheral blood biomarkers of Alzheimer’s disease and their immune cell infiltration correlation
   Kun Zhao, Yinyan Wu, Dongliang Zhao, Hui Zhang, Jianyang Lin, Yuanwei Wang · 2023 · Frontiers in Neuroscience
8. Amyloid Precursor Protein Variant, E665D, Associated With Unique Clinical and Biomarker Phenotype
   Justin Abbatemarco, Stephen E. Jones, Mykol Larvie, Lynn M. Bekris, Maria Khrestian, Kamini Krishnan, James B. Leverenz · 2021 · American Journal of Alzheimer s Disease & Other Dementias®
9. Aberrant Expression of GABA-Related Genes in the Hippocampus of 3xTg-AD Model Mice from the Early to End Stages of Alzheimer’s Disease
   Hiroaki Mori, Yuta Yoshino, Jun‐ichi Iga, Shinichiro Ochi, Yu Funahashi, Kiyohiro Yamazaki, Hiroshi Kumon, Yuki Ozaki, Shuichi Ueno · 2023 · Journal of Alzheimer s Disease
10. Effects of ApoE genotype on clinical phenotypes in early‐onset and late‐onset Alzheimer's disease in China: Data from the PUMCH dementia cohort
    Liling Dong, Jie Li, Caiyan Liu, Chenhui Mao, Jie Wang, Dan Lei, Xinying Huang, Shanshan Chu, Bo Hou, Feng Feng et al. · 2021 · Brain and Behavior
11. The Early‐Onset Alzheimer's Disease Whole‐Genome Sequencing Project: Study design and methodology
    Nicholas R. Ray, Temitope Ayodele, Melissa N. Jean‐Francois, Penelope Baez, María Victoria Fernández, Joseph L. Bradley, Paul K. Crane, Clifton L. Dalgard, Amanda B Kuzma, Heather Issen Nicaretta et al. · 2023 · Alzheimer s & Dementia
12. Τhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations
    Stefania Kalampokini, Despoina Georgouli, Eleni Patrikiou, Antonios Provatas, Varvara J Valotassiou, Panagiotis Georgoulias, Cleanthe Spanaki, Georgios M. Hadjigeorgiou, Georgia Xiromerisiou · 2021 · International Journal of Molecular Sciences
13. An insight into Alzheimer’s disease and its on-setting novel genes
    Jaanaky Vigneswaran, Sivaloganathan Anogh Muthukumar, Mohamed Shafras, Geetika Pant · 2021 · The Egyptian Journal of Neurology Psychiatry and Neurosurgery
14. A Novel Study and Meta‐Analysis of the Genetic Variation of the Serotonin Transporter Promoter in the Italian Population Do Not Support a Large Effect on Alzheimer′s Disease Risk
    Letizia Polito, Francesca Prato, Serena Rodilossi, Eleonora Ateri, Daniela Galimberti, Elio Angelo Scarpini, Francesca Clerici, Claudio Bruno Mariani, Gianluigi Forloni, Diego Albani · 2011 · International Journal of Alzheimer s Disease
15. Alzheimer’s disease and other dementias
    Jonathan M. Schott · 2020
16. A Cationic Zn-Phthalocyanine Turns Alzheimer’s Amyloid β Aggregates into Non-Toxic Oligomers and Inhibits Neurotoxicity in Culture
    Abdullah Md. Sheikh, Shatera Tabassum, Shozo Yano, Fatema Binte Abdullah, Ruochen Wang, Takahisa Ikeue, Atsushi Nagai · 2024 · International Journal of Molecular Sciences
17. Dementia Research: Populations, Progress, Problems, and Predictions
    Sally Hunter, Nadja Smailagic, Carol Brayne · 2018 · Journal of Alzheimer s Disease
18. Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer’s disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations
    Yingzi Liu, Xuewen Xiao, Hui Liu, Xinxin Liao, Yafang Zhou, Ling Weng, Lu Zhou, Xixi Liu, Xiangyun Bi, Tianyan Xu et al. · 2022 · Frontiers in Aging Neuroscience
19. Blepharospasm in familial AD secondary to an APP mutation (V715M)
    Shanji Nan, Yanqiu Han, Jia Fan, Qiu-Hui Chen · 2014 · Acta Neurologica Belgica
20. Functional variations in gamma-secretase activity are critical determinants of the clinical, biomarker, and cognitive progression of autosomal dominant Alzheimer’s disease
    Stephanie A. Schultz, Lei Liu, Aaron P. Schultz, Colleen D. Fitzpatrick, Raina Levin, Jean‐Pierre Bellier, Zahra Shirzadi, Nelly Joseph‐Mathurin, Charles D. Chen, Tammie L.S. Benzinger et al. · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
21. The role of amyloid beta 4-42 in the etiology of Alzheimer's disease
    Yvonne Bouter · 2015 · eDiss (Georg-August-Universität Göttingen)
22. Immunotherapeutic Approaches for the Treatment of Neurodegenerative Diseases: Challenges and Outcomes
    Amal Chandra Mondal, Sushma · 2021 · CNS & Neurological Disorders - Drug Targets
23. Primary lateral sclerosis associated with PSEN1 Pro284Leu variant in a Colombian family: Clinical and neuropathological features
    Juliana Acosta‐Uribe, Andrés Villegas‐Lanau, Dionis Vallejo, Laura Ramirez Aguilar, Juan Marcos Solano, Bárbara Mejía‐Cupajita, David Fernando Aguillon, Sonia Moreno, Luis Méndez, Ana Y. Baena et al. · 2024 · Alzheimer s & Dementia
24. Biomarker Modelling of Early Molecular Changes in Alzheimer’s Disease
    Ross W. Paterson, Jamie Toombs, Catherine F. Slattery, Jonathan M. Schott, Henrik Zetterberg · 2013 · Molecular Diagnosis & Therapy
25. Sex differences in sleep fragmentation in 5xFAD mice
    Kaitlyn Kim, Angel-Rose Villegas, Amanda Kelley, Edwin M. Labut, Tory M. Hagen, Kathy Ruth Magnusson, Heidi E. Kloefkorn · 2025 · Neuroscience
26. Familial cerebral amyloid disorders with prominent white matter involvement
    Gargi Banerjee, Jonathan M. Schott, Natalie Sarah Ryan · 2024 · Handbook of clinical neurology
27. A novel presenilin 1 mutation (Leu418Trp) associated with spasticity, parkinsonism, and white matter lesion in a dominant Alzheimer's family
    Yoshiaki Takahashi, Yasuyuki Ohta, Ryo Sasaki, Kou Tadokoro, Kota Sato, Jingwei Shang, Mami Takemoto, Nozomi Hishikawa, Toru Yamashita, Takashi Haraguchi et al. · 2018 · Journal of the Neurological Sciences
28. Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease
    Gioia Mastromoro, Stefano Gambardella, Enrica Marchionni, Rosa Campopiano, Alice Traversa, Carlo Di Bonaventura, Antonio Pizzuti · 2019 · Neurodegenerative Diseases
29. Late‐onset presentation and phenotypic heterogeneity of the rare R377W PSEN1 mutation
    Marta Scarioni, Andrea Arighi, Chiara Fenoglio, Federica Sorrentino, María Serpente, Emanuela Rotondo, Matteo Mercurio, Giorgio Marotta, Anke A. Dijkstra, Yolande A.L. Pijnenburg et al. · 2020 · European Journal of Neurology
30. Posterior Cortical Atrophy: Advice for Diagnosis and Implications for Management
    Timothy J. Shakespeare, Sebastian James Crutch, Nick C. Fox · 2012 · Neurodegenerative Disease Management
31. Young Onset Dementia
    Ashwin V. Venkataraman, Richard J. Perry, Paresh Malhotra · 2018 · Elsevier eBooks
32. A Possible Pathogenic PSEN2 Gly56Ser Mutation in a Korean Patient with Early-Onset Alzheimer’s Disease
    Kyu-Hwan Shim, Min Ju Kang, Heewon Bae, Danyeong Kim, Ji‐Won Park, Seong Soo A. An, Da-Eun Jeong · 2022 · International Journal of Molecular Sciences
33. An in vitro workflow of neuron-laden agarose-laminin hydrogel for studying small molecule-induced amyloidogenic condition
    Poommaree Namchaiw, Patapon Bunreangsri, Piyaporn Eiamcharoen, Salita Eiamboonsert, Rungtiva P. Poo-arporn · 2022 · PLoS ONE
34. Case of early onset Alzheimer’s disease associated with a novel PSEN1 variant identified in Colombia
    Lina Maria Zapata‐Restrepo, Bruce L. Miller, Juan Carlos Rivas, Katherine L. Possin, Victor Valcour, Stefanie Danielle Piña‐Escudero, Agustín M. Ibáñez, K S Kosik · 2025 · npj Dementia
35. Identifying cortical visual dysfunction in posterior cortical atrophy
    Timothy J. Shakespeare, Natalie Sarah Ryan, Harry Petrushkin, Sebastian James Crutch · 2012
36. A Novel Heterozygous Missense Variant in the CIAO1 Gene in a Family with Alzheimer’s Disease: The Val67Ile Variant Promotes the Interaction of CIAO1 and Amyloid-β Protein Precursor
    Haitian Nan, Yeon‐Jeong Kim, Mai Tsuchiya, Toko Fukao, Noriko Hara, Atsushi Hagihara, Kenya Nishioka, Nobutaka Hattori, Norikazu Hara, Takeshi Ikeuchi et al. · 2021 · Journal of Alzheimer s Disease
37. Progressive cognitive impairment and familial spastic paraparesis due to PRESENILIN 1 mutation: anatomoclinical characterization
    Miren Altuna, R Larumbe, María Victoria Zelaya, Sira Moreno, Virginia García-Solaesa, Maite Mendióroz, María Antonia Ramos, María Elena Erro · 2022 · Journal of Neurology
38. A Clinical Case of Patient Carrying Rare Pathological PSEN1 Gene Mutation (L424V) Demonstrates the Phenotypic Heterogenity of Early Onset Familial AD
    Kaloyan Stoychev, Maya Y. Stoimenova-Popova, Petranka G. Chumpalova, Lilia Ilieva, Mohamed Swamad, Zornitsa Kamburova-Martinova · 2019 · Frontiers in Psychiatry
39. Cognitive resilience to Alzheimer’s disease in mice depends on gene-diet interactions
    Amy R. Dunn, Harpreet Kaur, Yanchao Dai, Kevin Charland, Andrew R. Ouellette, Niran Hadad, Patricia Hayes Doyle, Glen Acosta, ELIZABETH M. LITKOWSKI, Timothy J. Hohman et al. · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
40. The Genetics of Cerebral Microbleeds
    Gargi Banerjee, David S. Lynch, David John Werring · 2024 · Springer eBooks
41. Loss of endogenous tau suppresses APOE4-induced patterned behavioral decline and axon dysmorphia in a model of Alzheimer's disease
    Eric Andrew Cardona, Chelsea Joy Webber, Zheng Wu, Blythe Bolton, Elif Sarinay Cenik, Jonathan T. Pierce-Shimomura · 2026 · Disease Models & Mechanisms
42. Genetic Risk Factors: Their Function and Comorbidities in Alzheimer′s Disease
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43. Frontiers in Clinical Drug Research - Alzheimer Disorders
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44. PSEN1 G417S mutation in a Chinese pedigree causing early-onset parkinsonism with cognitive impairment
    Jiang Li, Yan Qin, Yuwen Zhao, Qian Zeng, Hong-Xu Pan, Zhenhua Liu, Qiying Sun, Qian Xu, Jieqiong Tan, Xinxiang Yan et al. · 2022 · Neurobiology of Aging
45. Epigenetic and non-epigenetic mechanisms in the accelerated cellular aging in late-onset Alzheimer’s disease
    Kajal Rawat, Prathiba Garlapally · 2023 · Exploration of Neuroprotective Therapy
46. Modulation of Tau Phosphorylation by Oxidative Stress: Insights into the Interplay among LKB1, AMPK, and Akt Pathways in Differentiated SH-SY5Y Cells
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47. Clinical Epidemiology and APOE Gene Etiology: An Update on Alzheimer’s Disease.
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49. Alzheimer's Disease
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50. Estudo das atividades de reparo de DNA por excisão de bases em extratos mitocondriais de cérebros de indivíduos normais e acometidos pela doença de Alzheimer
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51. Forgetful and robotic: tap on a gene!
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52. Genetica delle demenze degenerative
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53. Génétique des formes autosomiques dominantes de maladie d’Alzheimer
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55. Descripción genotípica y fenotípica de la enfermedad de Alzheimer tardía y familiar precoz: revisión
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56. Forgetful and robotic: tap on a gene!
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57. Clinical Genetic Testing and Counseling in Psychiatry
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58. Ανάλυση γενετικών και βιολογικών δεικτών σε ασθενείς με νόσο Alzheimer
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59. Genetic Aspects of Early-Onset Alzheimer’s Disease
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60. Choroba Alzheimera o wczesnym początku z perspektywy psychiatry i logopedy – na podstawie portretu osoby chorej kreowanego w książce Motyl L. Genovy i jej adaptacji filmowej
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61. Development of Biomarker
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64. Clinical and biochemical markers of neurodegenerative process in Alzheimer's disease
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65. Biomarcadores amiloidogênicos na síndrome de Down
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66. Der Einfluss von Aβ4-42 auf die Kognition und die Anwendung von Suchstrategien im Morris Water Maze im Tg4-42-Mausmodell
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67. The complexity of Alzheiemer's disease: New frontiers
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68. Loss of endogenous tau suppresses APOE4-induced patterned behavioral decline and axon dysmorphia in a C. elegans model of Alzheimer’s disease
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69. Presenilin‐1 C779T Mutation Presenting With Rapidly Progressive Dementia and Medial Temporal Lobe MRI Changes
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71. Implication des métabolites de l'APP dans les troubles mnésiques précoces chez la souris TgCRND8, un modèle de la maladie d'Alzheimer
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72. Conception, synthèse et évaluation de nouveaux composés à dualité d'action agoniste des récepteurs 5-HT4 et antioxydante, d'intérêt thérapeutique pléiotrope dans la maladie d'Alzheimer
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73. The role of the α7 nicotinic acetylcholine receptor in a model of amyloid pathology
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74. A Novel p. (Leu173del) Mutation in the Presenilin 1 (PSEN1) Gene in Two Sisters with Dominantly Inherited Alzheimer's Disease
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75. The Adult Neurogenesis Theory of Alzheimer’s Disease Predicts Where Tauopathy Develops in the Brain
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76. Accelerated aging as a window into geroscience: Biological mechanisms, biomarkers, and therapeutic targets
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