| 1 |
Bekris LM, Yu CE, Bird TD, et al. Genetics of Alzheimer disease [J]. J Geriatr Psychiatry Neurol, 2010, 23(4): 213-227.
|
| 2 |
Chan D, Suk HJ, Jackson BL, et al. Gamma frequency sensory stimulation in mild probable Alzheimer's dementia patients: Results of feasibility and pilot studies [J]. PLoS One, 2022, 17(12): e0278412.
|
| 3 |
Mintun MA, Lo AC, Duggan Evans C, et al. Donanemab in early Alzheimer's disease [J]. N Engl J Med, 2021, 384(18): 1691-1704.
|
| 4 |
Swanson CJ, Zhang Y, Dhadda S, et al. A randomized, double-blind, phase 2b proof-of-concept clinical trial in early Alzheimer's disease with lecanemab, an anti-Aβ protofibril antibody [J]. J Alzheimers Dis, 2021, 13(1): 80.
|
| 5 |
Munoz-Bermejo L, Gonzalez-Becerra MJ, Barrios-Fernandez S, et al. Cost-effectiveness of the comprehensive interdisciplinary program-care in informal caregivers of people with Alzheimer's disease [J]. Int J Environ Res Public Health, 2022, 19(22): 15243.
|
| 6 |
Diehl J, Ernst J, Krapp S, et al. Misdemeanor in frontotemporal dementia [J]. Fortschr Neurol Psychiatr, 2006, 74(4): 203-210.
|
| 7 |
Hughes LE, Rittman T, Regenthal R, et al. Improving response inhibition systems in frontotemporal dementia with citalopram [J]. Brain, 2015, 138(Pt 7): 1961-1975.
|
| 8 |
Phan K, He Y, Pickford R, et al. Uncovering pathophysiological changes in frontotemporal dementia using serum lipids [J]. Sci Rep, 2020, 10(1): 3640.
|
| 9 |
Staffaroni AM, Ljubenkov PA, Kornak J, et al. Longitudinal multimodal imaging and clinical endpoints for frontotemporal dementia clinical trials [J]. Brain, 2019, 142(2): 443-459.
|
| 10 |
O'Connor CM, Clemson L, Brodaty H, et al. The tailored activity program (TAP) to address behavioral disturbances in frontotemporal dementia: a feasibility and pilot study [J]. Disabil Rehabil Assist Technol, 2019, 41(3): 299-310.
|
| 11 |
Silva MC, Ferguson FM, Cai Q, et al. Targeted degradation of aberrant tau in frontotemporal dementia patient-derived neuronal cell models [J]. Elife, 2019, 8: e45457.
|
| 12 |
Lester E, Ooi FK, Bakkar N, et al. Tau aggregates are RNA-protein assemblies that mislocalize multiple nuclear speckle components [J]. Neuron, 2021, 109(10): 1675-1691, e1679.
|
| 13 |
Benson DF, Davis RJ, Snyder BD. Posterior cortical atrophy[J].Arch Neurol, 1988,45(7):789-93.
|
| 14 |
Fedeli C, Filadi R, Rossi A, et al. PSEN2 (presenilin 2) mutants linked to familial Alzheimer disease impair autophagy by altering Ca2+ homeostasis [J]. Autophagy, 2019, 15(12): 2044-2062.
|
| 15 |
Arber C, Lovejoy C, Harris L, et al. Familial Alzheimer's disease mutations in PSEN1 lead to premature human stem cell neurogenesis [J]. Cell Rep, 2021, 34(2): 108615.
|
| 16 |
Stanga S, Vrancx C, Tasiaux B, et al. Specificity of presenilin-1- and presenilin-2-dependent gamma-secretases towards substrate processing [J]. J Cell Mol Med, 2018, 22(2): 823-833.
|
| 17 |
Pendin D, Fasolato C, Basso E, et al. Familial Alzheimer's disease presenilin-2 mutants affect Ca2+ homeostasis and brain network excitability [J]. Aging Clin Exp Res, 2021, 33(6): 1705-1708.
|
| 18 |
Hu C, Xu J, Zeng L, et al. Pen-2 and presenilin are sufficient to catalyze notch processing [J]. J Alzheimers Dis, 2017, 56(4): 1263-1269.
|
| 19 |
Duan Y, Ye T, Qu Z, et al. Brain-wide Cas9-mediated cleavage of a gene causing familial Alzheimer's disease alleviates amyloid-related pathologies in mice [J]. Nat Biomed Eng, 2022, 6(2): 168-180.
|
| 20 |
Zampese E, Fasolato C, Kipanyula MJ, et al. Presenilin 2 modulates endoplasmic reticulum (ER)-mitochondria interactions and Ca2+ cross-talk [J]. Proc Natl Acad Sci U S A, 2011, 108(7): 2777-2782.
|
| 21 |
Xiao X, Liu H, Liu X, et al. APP, PSEN1, and PSEN2 Variants in Alzheimer's disease: systematic re-evaluation according to ACMG guidelines [J]. Front Aging Neurosci, 2021, 13: 695808.
|
| 22 |
Kwart D, Gregg A, Scheckel C, et al. A large panel of isogenic APP and PSEN1 mutant human iPSC neurons reveals shared endosomal abnormalities mediated by APP beta-CTFs, not Abeta [J]. Neuron, 2019, 104(5): 1022.
|
| 23 |
Youn YC, Bagyinszky E, Kim H, et al. Probable novel PSEN2 Val214Leu mutation in Alzheimer's disease supported by structural prediction [J]. BMC neurology, 2014, 14: 105.
|
| 24 |
Ayodele T, Rogaeva E, Kurup JT, et al. Early-onset Alzheimer's disease: what is missing in research [J]. Curr Neurol Neurosci Rep, 2021, 21(2): 4.
|
| 25 |
Lohmann E, Guerreiro RJ, Erginel-Unaltuna N, et al. Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients [J]. Neurobiol Aging, 2012, 33(8): 1850 e1817-1827.
|
| 26 |
Li D, Parks SB, Kushner JD, et al. Mutations of presenilin genes in dilated cardiomyopathy and heart failure [J]. Am J Hum Genet, 2006, 79(6): 1030-1039.
|
| 27 |
Guven G, Samanci B, Gulec C, et al. A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer's disease [J]. Neurol Sci, 2021, 42(6): 2497-2504.
|
| 28 |
Li D, Parks SB, Kushner JD, et al. Mutations of presenilin genes in dilated cardiomyopathy and heart failure [J]. Am J Hum Genet, 2006, 79(6): 1030-9
|
| 29 |
Shi Z, Wang Y, Liu S, et al. Clinical and neuroimaging characterization of Chinese dementia patients with PSEN1 and PSEN2 mutations [J]. Dement Geriatr Cogn Disord, 2015, 39(1-2): 32-40.
|
| 30 |
Bernardi L, Tomaino C, Anfossi M, et al. Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia [J]. Neurobiol Aging, 2009, 30(11): 1825-1833.
|
| 31 |
Nacmias B, Piaceri I, Bagnoli S, et al. Genetics of Alzheimer's disease and frontotemporal dementia [J]. Curr Mol Med, 2014, 14(8): 993-1000.
|
| 32 |
Hsu JL, Lin CH, Chen PL, et al. Genetic study of young-onset dementia using targeted gene panel sequencing in Taiwan [J]. Am J Med Genet B Neuropsychiatr Genet, 2021, 186(2): 67-76.
|
| 33 |
Gallo M, Tomaino C, Puccio G, et al. Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in two siblings with frontotemporal dementia [J]. Neurol Sci, 2010, 31(1): 65-70.
|
| 34 |
Meeus B, Verstraeten A, Crosiers D, et al. DLB and PDD: a role for mutations in dementia and Parkinson disease genes [J]. Neurobiol Aging, 2012, 33(3): 629 e625-629 e618.
|
| 35 |
Kwok JB, Loy CT, Dobson-Stone C, et al. The complex relationship between genotype, pathology and phenotype in familial dementia [J]. Neurobiol Dis, 2020, 145: 105082.
|
| 36 |
Miyamoto M, Miyamoto T. Montreal cognitive assessment predicts the short-term risk of Lewy body disease in isolated REM sleep behavior disorder with reduced MIBG scintigraphy [J]. Mov Disord Clin Pract, 2022, 10(1): 32-41.
|
| 37 |
Bekris LM, Tsuang DW, Peskind ER, et al. Cerebrospinal fluid Aβ 42 levels and APP processing pathway genes in Parkinson's disease [J]. Mov Disord, 2015, 30(7): 936-944.
|
| 38 |
Zeng Q, Pan H, Zhao Y, et al. Evaluation of common and rare variants of Alzheimer's disease-causal genes in Parkinson's disease [J]. Parkinsonism Relat Disord, 2022, 97: 8-14.
|
| 39 |
Perrone F, Cacace R, Van Mossevelde S, et al. Genetic screening in early-onset dementia patients with unclear phenotype: relevance for clinical diagnosis [J]. Neurobiol Aging, 2018, 69: 292.e297-e214.
|
| 40 |
Lange J, Lunde KA, Sletten C, et al. Association of a BACE1 gene polymorphism with Parkinson's disease in a norwegian population [J]. Parkinsons Dis, 2015, 2015: 973298.
|
| 41 |
Li XY, Cui Y, Jing D, et al. Novel PSEN1 and PSEN2 mutations identified in sporadic early-onset Alzheimer disease and posterior cortical atrophy [J]. Alzheimer Dis Assoc Disord, 2021, 35(3): 208-213.
|
| 42 |
Carrasquillo MM, Barber I, Lincoln SJ, et al. Evaluating pathogenic dementia variants in posterior cortical atrophy [J]. Neurobiol Aging, 2016, 37: 38-44.
|
| 43 |
Tremolizzo L, Susani E, Mapelli C, et al. First report of PSEN2 mutation presenting as posterior cortical atrophy [J]. Alzheimer Dis Assoc Disord, 2015, 29(3): 249-251.
|
| 44 |
Luzzis S, Fioric C, Ranaldi V, et al. Allochiria for spatial landmarks as the presenting feature of posterior cortical atrophy [J]. Cortex, 2022, 157: 274-287.
|