-
1
-
-
70449245071
-
Etude des chromosomes somatiques de neuf enfants mongoliens.
-
(in French)
-
Lejeune, J., Gautier, M. & Turpin, R. Etude des chromosomes somatiques de neuf enfants mongoliens. C. R. Hebd. Seances Acad. Sci. 248, 1721-1722 (in French) (1959).
-
(1959)
C. R. Hebd. Seances Acad. Sci.
, vol.248
, pp. 1721-1722
-
-
Lejeune, J.1
Gautier, M.2
Turpin, R.3
-
2
-
-
84925665742
-
Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States
-
de Graaf, G., Buckley, F. & Skotko, B. G. Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States. Am. J. Med. Genet. A 167A, 756-767 (2015).
-
(2015)
Am. J. Med. Genet. A
, vol.167 A
, pp. 756-767
-
-
De Graaf, G.1
Buckley, F.2
Skotko, B.G.3
-
3
-
-
84882449413
-
Trends in maternal age distribution and the live birth prevalence of Down's syndrome in England and Wales: 1938-2010
-
Wu, J. H. & Morris, J. K. Trends in maternal age distribution and the live birth prevalence of Down's syndrome in England and Wales: 1938-2010. Eur. J. Hum. Genet. 21, 943-947 (2013).
-
(2013)
Eur. J. Hum. Genet.
, vol.21
, pp. 943-947
-
-
Wu, J.H.1
Morris, J.K.2
-
4
-
-
84882451214
-
The population prevalence of Down's syndrome in England and Wales in 2011
-
Wu, J. H. & Morris, J. K. The population prevalence of Down's syndrome in England and Wales in 2011. Eur. J. Hum. Genet. 21, 1016-1019 (2013).
-
(2013)
Eur. J. Hum. Genet.
, vol.21
, pp. 1016-1019
-
-
Wu, J.H.1
Morris, J.K.2
-
5
-
-
63149117340
-
Down syndrome - Recent progress and future prospects
-
Wiseman, F. K., Alford, K. A., Tybulewicz, V. L. J. & Fisher, E. M. C. Down syndrome - recent progress and future prospects. Hum. Mol. Genet. 18, R75-R83 (2009).
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. R75-R83
-
-
Wiseman, F.K.1
Alford, K.A.2
Tybulewicz, V.L.J.3
Fisher, E.M.C.4
-
6
-
-
84889649093
-
A prospective 14-year longitudinal follow-up of dementia in persons with Down syndrome
-
McCarron, M., McCallion, P., Reilly, E. & Mulryan, N. A prospective 14-year longitudinal follow-up of dementia in persons with Down syndrome. J. Intellect. Disabil. Res. 58, 61-70 (2014).
-
(2014)
J. Intellect. Disabil. Res.
, vol.58
, pp. 61-70
-
-
McCarron, M.1
McCallion, P.2
Reilly, E.3
Mulryan, N.4
-
7
-
-
18344371352
-
Incidence and temporal patterns of adaptive behavior change in adults with mental retardation
-
Zigman, W. B., Schupf, N., Urv, T., Zigman, A. & Silverman, W. Incidence and temporal patterns of adaptive behavior change in adults with mental retardation. Am. J. Mental Retard. 107, 161-174 (2002).
-
(2002)
Am. J. Mental Retard.
, vol.107
, pp. 161-174
-
-
Zigman, W.B.1
Schupf, N.2
Urv, T.3
Zigman, A.4
Silverman, W.5
-
8
-
-
84860764162
-
Role of common and rare APP DNA sequence variants in Alzheimer disease
-
Hooli, B. V. et al. Role of common and rare APP DNA sequence variants in Alzheimer disease. Neurology 78, 1250-1257 (2012).
-
(2012)
Neurology
, vol.78
, pp. 1250-1257
-
-
Hooli, B.V.1
-
9
-
-
69449108391
-
Identification of independent APP locus duplication in Japanese patients with early-onset Alzheimer disease
-
Kasuga, K. et al. Identification of independent APP locus duplication in Japanese patients with early-onset Alzheimer disease. J. Neurol. Neurosurg. Psychiatry 80, 1050-1052 (2009).
-
(2009)
J. Neurol. Neurosurg. Psychiatry
, vol.80
, pp. 1050-1052
-
-
Kasuga, K.1
-
10
-
-
82755161904
-
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
-
426.e13-426.e21
-
McNaughton, D. et al. 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. Neurobiol. Aging 33, 426.e13-426. e21 (2010).
-
(2010)
Neurobiol. Aging
, vol.33
-
-
McNaughton, D.1
-
11
-
-
29444442794
-
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
-
Rovelet-Lecrux, A. et al. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat. Genet. 38, 24-26 (2006).
-
(2006)
Nat. Genet.
, vol.38
, pp. 24-26
-
-
Rovelet-Lecrux, A.1
-
12
-
-
34848922135
-
APP locus duplication in a Finnish family with dementia and intracerebral haemorrhage
-
Rovelet-Lecrux, A. et al. APP locus duplication in a Finnish family with dementia and intracerebral haemorrhage. J. Neurol. Neurosurg. Psychiatry 78, 1158-1159 (2007).
-
(2007)
J. Neurol. Neurosurg. Psychiatry
, vol.78
, pp. 1158-1159
-
-
Rovelet-Lecrux, A.1
-
13
-
-
33750579333
-
APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy
-
Sleegers, K. et al. APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy. Brain 129, 2977-2983 (2006).
-
(2006)
Brain
, vol.129
, pp. 2977-2983
-
-
Sleegers, K.1
-
14
-
-
84870806539
-
Analysis of copy number variation in Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals
-
Swaminathan, S. et al. Analysis of copy number variation in Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. PLoS ONE 7 e50640 (2012).
-
(2012)
PLoS ONE
, vol.7
, pp. e50640
-
-
Swaminathan, S.1
-
15
-
-
80055045412
-
Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient
-
Thonberg, H. et al. Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient. BMC Res. Notes 4, 476 (2011).
-
(2011)
BMC Res. Notes
, vol.4
, Issue.476
-
-
Thonberg, H.1
-
16
-
-
0031939059
-
Molecular mapping of Alzheimertype dementia in Down's syndrome
-
Prasher, V. P. et al. Molecular mapping of Alzheimertype dementia in Down's syndrome. Ann. Neurol. 43, 380-383 (1998).
-
(1998)
Ann. Neurol.
, vol.43
, pp. 380-383
-
-
Prasher, V.P.1
-
17
-
-
67749148222
-
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies
-
Korbel, J. O. et al. The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies. Proc. Natl Acad. Sci. USA 106, 12031-12036 (2009).
-
(2009)
Proc. Natl Acad. Sci. USA
, vol.106
, pp. 12031-12036
-
-
Korbel, J.O.1
-
18
-
-
0001367912
-
Kalmuc idiocy: Report of a case with autopsy with notes on 62 cases
-
Fraser, J. & Mitchell, A. Kalmuc idiocy: report of a case with autopsy with notes on 62 cases. J. Mental Sci. 22, 161-169 (1876).
-
(1876)
J. Mental Sci.
, vol.22
, pp. 161-169
-
-
Fraser, J.1
Mitchell, A.2
-
19
-
-
77955993561
-
Dementia in older adults with intellectual disabilities - Epidemiology, presentation, and diagnosis
-
Strydom, A. et al. Dementia in older adults with intellectual disabilities - epidemiology, presentation, and diagnosis. J. Intellect. Disabil. 7, 96-110 (2010).
-
(2010)
J. Intellect. Disabil.
, vol.7
, pp. 96-110
-
-
Strydom, A.1
-
20
-
-
0035671551
-
Dementia in people with Down's syndrome
-
Tyrrell, J. et al. Dementia in people with Down's syndrome. Int. J. Geriatr. Psychiatry 16, 1168-1174 (2001).
-
(2001)
Int. J. Geriatr. Psychiatry
, vol.16
, pp. 1168-1174
-
-
Tyrrell, J.1
-
21
-
-
33748342571
-
Dementia and mortality in persons with Down's syndrome
-
Coppus, A. et al. Dementia and mortality in persons with Down's syndrome. J. Intellect. Disabil. Res. 50, 768-777 (2006).
-
(2006)
J. Intellect. Disabil. Res.
, vol.50
, pp. 768-777
-
-
Coppus, A.1
-
22
-
-
0031039294
-
Prospective study of the prevalence of Alzheimer-type dementia in institutionalized individuals with Down syndrome
-
Visser, F. E., Aldenkamp, A. P., vanHuffelen, A. C., Kuilman, M. & Overweg, J. Prospective study of the prevalence of Alzheimer-type dementia in institutionalized individuals with Down syndrome. Am. J. Mental Retard. 101, 400-412 (1997).
-
(1997)
Am. J. Mental Retard.
, vol.101
, pp. 400-412
-
-
Visser, F.E.1
Aldenkamp, A.P.2
vanHuffelen, A.C.3
Kuilman, M.4
Overweg, J.5
-
23
-
-
50949126647
-
Successful aging in a 70-year-old man with Down syndrome: A case study
-
Krinsky-McHale, S. J. et al. Successful aging in a 70-year-old man with Down syndrome: a case study. Intellect. Dev. Disabil. 46, 215-228 (2008).
-
(2008)
Intellect. Dev. Disabil.
, vol.46
, pp. 215-228
-
-
Krinsky-McHale, S.J.1
-
24
-
-
77049100971
-
Early age at menopause is associated with increased risk of Dementia and mortality in women with Down syndrome
-
Coppus, A. M. W. et al. Early age at menopause is associated with increased risk of Dementia and mortality in women with Down syndrome. J. Alzheimers Dis. 19, 545-550 (2010).
-
(2010)
J. Alzheimers Dis.
, vol.19
, pp. 545-550
-
-
Coppus, A.M.W.1
-
25
-
-
0141646636
-
Onset of dementia is associated with age at menopause in women with Down's syndrome
-
Schupf, N. et al. Onset of dementia is associated with age at menopause in women with Down's syndrome. Ann. Neurol. 54, 433-438 (2003).
-
(2003)
Ann. Neurol.
, vol.54
, pp. 433-438
-
-
Schupf, N.1
-
26
-
-
0033458868
-
Age at onset of dementia and age of menopause in women with Down's syndrome
-
Cosgrave, M. P., Tyrrell, J., McCarron, M., Gill, M. & Lawlor, B. A. Age at onset of dementia and age of menopause in women with Down's syndrome. J. Intellect. Disabil. Res. 43, 461-465 (1999).
-
(1999)
J. Intellect. Disabil. Res.
, vol.43
, pp. 461-465
-
-
Cosgrave, M.P.1
Tyrrell, J.2
McCarron, M.3
Gill, M.4
Lawlor, B.A.5
-
27
-
-
78149464335
-
Comparison of intima-media thickness of the carotid artery and cardiovascular disease risk factors in adults with versus without the Down syndrome
-
Draheim, C. C., Geijer, J. R. & Dengel, D. R. Comparison of intima-media thickness of the carotid artery and cardiovascular disease risk factors in adults with versus without the Down syndrome. Am. J. Cardiol. 106, 1512-1516 (2010).
-
(2010)
Am. J. Cardiol.
, vol.106
, pp. 1512-1516
-
-
Draheim, C.C.1
Geijer, J.R.2
Dengel, D.R.3
-
28
-
-
33947584874
-
Cholesterol level, statin use and Alzheimer's disease in adults with Down syndrome
-
Zigman, W. B. et al. Cholesterol level, statin use and Alzheimer's disease in adults with Down syndrome. Neurosci. Lett. 416, 279-284 (2007).
-
(2007)
Neurosci. Lett.
, vol.416
, pp. 279-284
-
-
Zigman, W.B.1
-
29
-
-
0024603801
-
Downs-syndrome and atherosclerosis
-
Ylaherttuala, S., Luoma, J., Nikkari, T. & Kivimaki, T. Downs-syndrome and atherosclerosis. Atherosclerosis 76, 269-272 (1989).
-
(1989)
Atherosclerosis
, vol.76
, pp. 269-272
-
-
Ylaherttuala, S.1
Luoma, J.2
Nikkari, T.3
Kivimaki, T.4
-
30
-
-
57749210007
-
Prevalence of hypertension in adults with intellectual disability in the Netherlands
-
van de Louw, J., Vorstenbosch, R., Vinck, L., Penning, C. & Evenhuis, H. Prevalence of hypertension in adults with intellectual disability in the Netherlands. J. Intellect. Disabil. Res. 53, 78-84 (2009).
-
(2009)
J. Intellect. Disabil. Res.
, vol.53
, pp. 78-84
-
-
Van De Louw, J.1
Vorstenbosch, R.2
Vinck, L.3
Penning, C.4
Evenhuis, H.5
-
31
-
-
33747397954
-
Cardiovascular disease and Alzheimer's disease: Common links
-
Stampfer, M. J. Cardiovascular disease and Alzheimer's disease: common links. J. Internal Med. 260, 211-223 (2006).
-
(2006)
J. Internal Med.
, vol.260
, pp. 211-223
-
-
Stampfer, M.J.1
-
32
-
-
84867603343
-
Cognitive reserve in ageing and Alzheimer's disease
-
Stern, Y. Cognitive reserve in ageing and Alzheimer's disease. Lancet Neurol. 11, 1006-1012 (2012).
-
(2012)
Lancet Neurol.
, vol.11
, pp. 1006-1012
-
-
Stern, Y.1
-
33
-
-
58649091967
-
Alzheimer's disease in adults with Down syndrome
-
Zigman, W. B. et al. Alzheimer's disease in adults with Down syndrome. Int. Rev. Res. Ment. Retard. 36, 103-145 (2008).
-
(2008)
Int. Rev. Res. Ment. Retard.
, vol.36
, pp. 103-145
-
-
Zigman, W.B.1
-
34
-
-
34248574203
-
Fifteen-year follow-up of 92 hospitalized adults with Down's syndrome: Incidence of cognitive decline, its relationship to age and neuropathology
-
Margallo-Lana, M. L. et al. Fifteen-year follow-up of 92 hospitalized adults with Down's syndrome: incidence of cognitive decline, its relationship to age and neuropathology. J. Intellect. Disabil. Res. 51, 463-477 (2007).
-
(2007)
J. Intellect. Disabil. Res.
, vol.51
, pp. 463-477
-
-
Margallo-Lana, M.L.1
-
35
-
-
0033646677
-
Sequence of cognitive decline in dementia in adults with Down's syndrome
-
Devenny, D. A., Krinsky-McHale, S. J., Sersen, G. & Silverman, W. P. Sequence of cognitive decline in dementia in adults with Down's syndrome. J. Intellect. Disabil. Res. 44, 654-665 (2000).
-
(2000)
J. Intellect. Disabil. Res.
, vol.44
, pp. 654-665
-
-
Devenny, D.A.1
Krinsky-McHale, S.J.2
Sersen, G.3
Silverman, W.P.4
-
36
-
-
0036739607
-
Cued recall in early-stage dementia in adults with Down's syndrome
-
Devenny, D. A., Zimmerli, E. J., Kittler, P. & Krinsky-McHale, S. J. Cued recall in early-stage dementia in adults with Down's syndrome. J. Intellect. Disabil. Res. 46, 472-483 (2002).
-
(2002)
J. Intellect. Disabil. Res.
, vol.46
, pp. 472-483
-
-
Devenny, D.A.1
Zimmerli, E.J.2
Kittler, P.3
Krinsky-McHale, S.J.4
-
37
-
-
0036201972
-
Changes in explicit memory associated with early dementia in adults with Down's syndrome
-
Krinsky-McHale, S. J., Devenny, D. A. & Silverman, W. P. Changes in explicit memory associated with early dementia in adults with Down's syndrome. J. Intellect. Disabil. Res. 46, 198-208 (2002).
-
(2002)
J. Intellect. Disabil. Res.
, vol.46
, pp. 198-208
-
-
Krinsky-McHale, S.J.1
Devenny, D.A.2
Silverman, W.P.3
-
38
-
-
77953331393
-
The relationship between acquired impairments of executive function and behaviour change in adults with Down syndrome
-
Adams, D. & Oliver, C. The relationship between acquired impairments of executive function and behaviour change in adults with Down syndrome. J. Intellect. Disabil. Res. 54, 393-405 (2010).
-
(2010)
J. Intellect. Disabil. Res.
, vol.54
, pp. 393-405
-
-
Adams, D.1
Oliver, C.2
-
39
-
-
33746406026
-
Personality and behaviour changes mark the early stages of Alzheimer's disease in adults with Down's syndrome: Findings from a prospective population-based study
-
Ball, S. L. et al. Personality and behaviour changes mark the early stages of Alzheimer's disease in adults with Down's syndrome: findings from a prospective population-based study. Int. J. Geriatr. Psychiatry 21, 661-673 (2006).
-
(2006)
Int. J. Geriatr. Psychiatry
, vol.21
, pp. 661-673
-
-
Ball, S.L.1
-
40
-
-
41049084845
-
Executive dysfunction and its association with personality and behaviour changes in the development of Alzheimer's disease in adults with Down syndrome and mild to moderate learning disabilities
-
Ball, S. L., Holland, A. J., Treppner, P., Watson, P. C. & Huppert, F. A. Executive dysfunction and its association with personality and behaviour changes in the development of Alzheimer's disease in adults with Down syndrome and mild to moderate learning disabilities. Br. J. Clin. Psychol. 47, 1-29 (2008).
-
(2008)
Br. J. Clin. Psychol.
, vol.47
, pp. 1-29
-
-
Ball, S.L.1
Holland, A.J.2
Treppner, P.3
Watson, P.C.4
Huppert, F.A.5
-
41
-
-
0034125007
-
Incidence and course of dementia in people with Down's syndrome: Findings from a population-based study
-
Holland, A. J., Hon, J., Huppert, F. A. & Stevens, F. Incidence and course of dementia in people with Down's syndrome: findings from a population-based study. J. Intellect. Disabil. Res. 44, 138-146 (2000).
-
(2000)
J. Intellect. Disabil. Res.
, vol.44
, pp. 138-146
-
-
Holland, A.J.1
Hon, J.2
Huppert, F.A.3
Stevens, F.4
-
42
-
-
79954555801
-
Behavioural excesses and deficits associated with dementia in adults who have Down syndrome
-
Oliver, C., Kalsy, S., McQuillan, S. & Hall, S. Behavioural excesses and deficits associated with dementia in adults who have Down syndrome. J. Appl. Res. Intellect. Disabil. 24, 208-216 (2011).
-
(2011)
J. Appl. Res. Intellect. Disabil.
, vol.24
, pp. 208-216
-
-
Oliver, C.1
Kalsy, S.2
McQuillan, S.3
Hall, S.4
-
43
-
-
0034815713
-
Neurological changes and emotional functioning in adults with Down Syndrome
-
Nelson, L. D., Orme, D., Osann, K. & Lott, I. T. Neurological changes and emotional functioning in adults with Down Syndrome. J. Intellect. Disabil. Res. 45, 450-456 (2001).
-
(2001)
J. Intellect. Disabil. Res.
, vol.45
, pp. 450-456
-
-
Nelson, L.D.1
Orme, D.2
Osann, K.3
Lott, I.T.4
-
44
-
-
84903366115
-
Frontal white matter integrity in adults with Down syndrome with and without dementia
-
Powell, D. et al. Frontal white matter integrity in adults with Down syndrome with and without dementia. Neurobiol. Aging 35, 1562-1569 (2014).
-
(2014)
Neurobiol. Aging
, vol.35
, pp. 1562-1569
-
-
Powell, D.1
-
45
-
-
84925843790
-
18F]florbetaben PET study
-
18F]florbetaben PET study. Neurology 84, 500-507 (2015).
-
(2015)
Neurology
, vol.84
, pp. 500-507
-
-
Jennings, D.1
-
46
-
-
84921864088
-
'Noncognitive' symptoms of early Alzheimer disease: A longitudinal analysis
-
Masters, M. C., Morris, J. C. & Roe, C. M. 'Noncognitive' symptoms of early Alzheimer disease: a longitudinal analysis. Neurology 84, 617-622 (2015).
-
(2015)
Neurology
, vol.84
, pp. 617-622
-
-
Masters, M.C.1
Morris, J.C.2
Roe, C.M.3
-
47
-
-
84862995971
-
The French series of autosomal dominant early onset Alzheimer's disease cases: Mutation spectrum and cerebrospinal fluid biomarkers
-
Wallon, D. et al. The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers. J. Alzheimers Dis. 30, 847-856 (2012).
-
(2012)
J. Alzheimers Dis.
, vol.30
, pp. 847-856
-
-
Wallon, D.1
-
48
-
-
77955981514
-
Senile myoclonic epilepsy: Delineation of a common condition associated with Alzheimer's disease in Down syndrome
-
De Simone, R., Puig, X. S., Gélisse, P., Crespel, A. & Genton, P. Senile myoclonic epilepsy: delineation of a common condition associated with Alzheimer's disease in Down syndrome. Seizure 19, 383-389 (2010).
-
(2010)
Seizure
, vol.19
, pp. 383-389
-
-
De Simone, R.1
Puig, X.S.2
Gélisse, P.3
Crespel, A.4
Genton, P.5
-
49
-
-
0034927051
-
Late-onset myoclonic epilepsy in Down's syndrome (LOMEDS)
-
Moller, J. C., Hamer, H. M., Oertel, W. H. & Rosenow, F. Late-onset myoclonic epilepsy in Down's syndrome (LOMEDS). Seizure 10, 303-305 (2001).
-
(2001)
Seizure
, vol.10
, pp. 303-305
-
-
Moller, J.C.1
Hamer, H.M.2
Oertel, W.H.3
Rosenow, F.4
-
50
-
-
84906087201
-
Progressive myoclonus epilepsy in Down syndrome patients with dementia
-
d'Orsi, G. & Specchio, L. M. Progressive myoclonus epilepsy in Down syndrome patients with dementia. J. Neurol. 261, 1584-1597 (2014).
-
(2014)
J. Neurol.
, vol.261
, pp. 1584-1597
-
-
D'Orsi, G.1
Specchio, L.M.2
-
51
-
-
84859515215
-
Seizures and epilepsy in Alzheimer's disease
-
Friedman, D., Honig, L. S. & Scarmeas, N. Seizures and epilepsy in Alzheimer's disease. CNS Neurosci. Ther. 18, 285-294 (2012).
-
(2012)
CNS Neurosci. Ther.
, vol.18
, pp. 285-294
-
-
Friedman, D.1
Honig, L.S.2
Scarmeas, N.3
-
52
-
-
84883759456
-
Seizures and epileptiform activity in the early stages of Alzheimer disease
-
Vossel, K. A. et al. Seizures and epileptiform activity in the early stages of Alzheimer disease. JAMA Neurol. 70, 1158-1166 (2013).
-
(2013)
JAMA Neurol.
, vol.70
, pp. 1158-1166
-
-
Vossel, K.A.1
-
53
-
-
84858610667
-
Incidence of new-onset seizures in mild to moderate Alzheimer disease
-
Irizarry, M. C. et al. Incidence of new-onset seizures in mild to moderate Alzheimer disease. Arch. Neurol. 69, 368-372 (2012).
-
(2012)
Arch. Neurol.
, vol.69
, pp. 368-372
-
-
Irizarry, M.C.1
-
54
-
-
84858129016
-
Down syndrome and dementia: Seizures and cognitive decline
-
Lott, I. T. et al. Down syndrome and dementia: seizures and cognitive decline. J. Alzheimers Dis. 29, 177-185 (2012).
-
(2012)
J. Alzheimers Dis.
, vol.29
, pp. 177-185
-
-
Lott, I.T.1
-
55
-
-
0032362340
-
The neuropsychological assessment of age related cognitive deficits in adults with Down's syndrome
-
Crayton, L., Oliver, C., Holland, A., Bradbury, J. & Hall, S. The neuropsychological assessment of age related cognitive deficits in adults with Down's syndrome. J. Appl. Res. Intellect. Disabil. 11, 255-272 (1998).
-
(1998)
J. Appl. Res. Intellect. Disabil.
, vol.11
, pp. 255-272
-
-
Crayton, L.1
Oliver, C.2
Holland, A.3
Bradbury, J.4
Hall, S.5
-
56
-
-
0032986585
-
Cognitive changes in memory precede those in praxis in aging persons with Down syndrome
-
Dalton, A. J., Mehta, P. D., Fedor, B. L. & Patti, P. J. Cognitive changes in memory precede those in praxis in aging persons with Down syndrome. J. Intellect. Dev. Disabil. 24, 169-187 (1999).
-
(1999)
J. Intellect. Dev. Disabil.
, vol.24
, pp. 169-187
-
-
Dalton, A.J.1
Mehta, P.D.2
Fedor, B.L.3
Patti, P.J.4
-
57
-
-
0000677019
-
Histopathologische Untersuchungen über Entstehung und Wesen der senile Plaques
-
(in German)
-
Struwe, F. Histopathologische Untersuchungen über Entstehung und Wesen der senile Plaques. Z. Gesamte Neurol. Psy. 122, 291-307 (in German) (1929).
-
(1929)
Z. Gesamte Neurol. Psy.
, vol.122
, pp. 291-307
-
-
Struwe, F.1
-
58
-
-
0021207461
-
Alzheimer's disease and Downs syndrome - Sharing of a unique cerebrovascular amyloid fibril protein
-
Glenner, G. G. & Wong, C. W. Alzheimer's disease and Downs syndrome - sharing of a unique cerebrovascular amyloid fibril protein. Biochem. Biophys. Res. Commun. 122, 1131-1135 (1984).
-
(1984)
Biochem. Biophys. Res. Commun.
, vol.122
, pp. 1131-1135
-
-
Glenner, G.G.1
Wong, C.W.2
-
59
-
-
0026088977
-
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
-
Goate, A. et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 349, 704-706 (1991).
-
(1991)
Nature
, vol.349
, pp. 704-706
-
-
Goate, A.1
-
60
-
-
0026597063
-
Alzheimer's disease - The amyloid cascade hypothesis
-
Hardy, J. A. & Higgins, G. A. Alzheimer's disease - the amyloid cascade hypothesis. Science 256, 184-185 (1992).
-
(1992)
Science
, vol.256
, pp. 184-185
-
-
Hardy, J.A.1
Higgins, G.A.2
-
61
-
-
0026595846
-
Ta u proteins of Alzheimer paired helical filaments - Abnormal phosphorylation of all 6 brain isoforms
-
Goedert, M., Spillantini, M. G., Cairns, N. J. & Crowther, R. A. Ta u proteins of Alzheimer paired helical filaments - abnormal phosphorylation of all 6 brain isoforms. Neuron 8, 159-168 (1992).
-
(1992)
Neuron
, vol.8
, pp. 159-168
-
-
Goedert, M.1
Spillantini, M.G.2
Cairns, N.J.3
Crowther, R.A.4
-
62
-
-
0023729624
-
Alzheimer's disease and Down's syndrome
-
Mann, D. M. A. Alzheimer's disease and Down's syndrome. Histopathology 13, 125-137 (1988).
-
(1988)
Histopathology
, vol.13
, pp. 125-137
-
-
Mann, D.M.A.1
-
63
-
-
0022930785
-
Discrepancy between Alzheimer-type neuropathology and dementia in persons with Down's syndrome
-
Wisniewski, H. M. & Rabe, A. Discrepancy between Alzheimer-type neuropathology and dementia in persons with Down's syndrome. Ann. NY Acad. Sci. 477, 247-260 (1986).
-
(1986)
Ann. NY Acad. Sci.
, vol.477
, pp. 247-260
-
-
Wisniewski, H.M.1
Rabe, A.2
-
64
-
-
0023889961
-
The pathological association between Down syndrome and Alzheimer's disease
-
Mann, D. M. A. The pathological association between Down syndrome and Alzheimer's disease. Mech. Ageing Dev. 43, 99-136 (1988).
-
(1988)
Mech. Ageing Dev.
, vol.43
, pp. 99-136
-
-
Mann, D.M.A.1
-
65
-
-
17544399111
-
Early amyloid deposition in the medial temporal lobe of young Down syndrome patients: A regional quantitative analysis
-
Leverenz, J. B. & Raskind, M. A. Early amyloid deposition in the medial temporal lobe of young Down syndrome patients: a regional quantitative analysis. Exp. Neurol. 150, 296-304 (1998).
-
(1998)
Exp. Neurol.
, vol.150
, pp. 296-304
-
-
Leverenz, J.B.1
Raskind, M.A.2
-
66
-
-
0025863618
-
Neuropathological staging of Alzheimer-related changes
-
Braak, H. & Braak, E. Neuropathological staging of Alzheimer-related changes. Acta Neuropathol. 82, 239-259 (1991).
-
(1991)
Acta Neuropathol.
, vol.82
, pp. 239-259
-
-
Braak, H.1
Braak, E.2
-
67
-
-
0033007451
-
Reverse relationship between β-amyloid precursor protein and beta-amyloid peptide plaques in Down's syndrome versus sporadic/familial Alzheimer's disease
-
Egensperger, R. et al. Reverse relationship between β-amyloid precursor protein and beta-amyloid peptide plaques in Down's syndrome versus sporadic/familial Alzheimer's disease. Acta Neuropathol. 97, 113-118 (1999).
-
(1999)
Acta Neuropathol.
, vol.97
, pp. 113-118
-
-
Egensperger, R.1
-
68
-
-
0023189934
-
Loss of neurons from cortical and subcortical areas in Down's syndrome patients at middle-age - Quantitative comparisons with younger Down's patients and patients with Alzheimer's disease
-
Mann, D. M. A., Yates, P. O., Marcyniuk, B. & Ravindra, C. R. Loss of neurons from cortical and subcortical areas in Down's syndrome patients at middle-age - quantitative comparisons with younger Down's patients and patients with Alzheimer's disease. J. Neurol. Sci. 80, 79-89 (1987).
-
(1987)
J. Neurol. Sci.
, vol.80
, pp. 79-89
-
-
Mann, D.M.A.1
Yates, P.O.2
Marcyniuk, B.3
Ravindra, C.R.4
-
69
-
-
0022553757
-
Isolated senile plaque cores in Alzheimer's disease and Down's syndrome show differences in morphology
-
Allsop, D., Kidd, M., Landon, M. & Tomlinson, A. Isolated senile plaque cores in Alzheimer's disease and Down's syndrome show differences in morphology. J. Neurol. Neurosurg. Psychiatry 49, 886-892 (1986).
-
(1986)
J. Neurol. Neurosurg. Psychiatry
, vol.49
, pp. 886-892
-
-
Allsop, D.1
Kidd, M.2
Landon, M.3
Tomlinson, A.4
-
70
-
-
84866983763
-
Size frequency distributions of β-amyloid (4β) deposits: A comparative study of four neurodegenerative disorders
-
Armstrong, R. A. Size frequency distributions of β-amyloid (4β) deposits: a comparative study of four neurodegenerative disorders. Folia Neuropathol. 50, 240-249 (2012).
-
(2012)
Folia Neuropathol.
, vol.50
, pp. 240-249
-
-
Armstrong, R.A.1
-
71
-
-
79960809092
-
Neuronal activity regulates the regional vulnerability to amyloid-β deposition
-
Bero, A. W. et al. Neuronal activity regulates the regional vulnerability to amyloid-β deposition. Nat. Neurosci. 14, 750-756 (2011).
-
(2011)
Nat. Neurosci.
, vol.14
, pp. 750-756
-
-
Bero, A.W.1
-
72
-
-
0034745017
-
Intraneuronal Aβ-amyloid precedes development of amyloid plaques in Down syndrome
-
Gyure, K. A., Durham, R., Stewart, W. F., Smialek, J. E. & Troncoso, J. C. Intraneuronal Aβ-amyloid precedes development of amyloid plaques in Down syndrome. Arch. Pathol. Lab. Med. 125, 489-492 (2001).
-
(2001)
Arch. Pathol. Lab. Med.
, vol.125
, pp. 489-492
-
-
Gyure, K.A.1
Durham, R.2
Stewart, W.F.3
Smialek, J.E.4
Troncoso, J.C.5
-
73
-
-
0037384938
-
Characteristic developmental expression of amyloid β40, 42 and 43 in patients with Down syndrome
-
Hirayama, A., Horikoshi, Y., Maeda, M., Ito, M. & Takashima, S. Characteristic developmental expression of amyloid β40, 42 and 43 in patients with Down syndrome. Brain Dev. 25, 180-185 (2003).
-
(2003)
Brain Dev.
, vol.25
, pp. 180-185
-
-
Hirayama, A.1
Horikoshi, Y.2
Maeda, M.3
Ito, M.4
Takashima, S.5
-
74
-
-
0028919919
-
Amyloid β protein (Aβ) deposition: Aβ42(43) precedes Aβ40 in Down syndrome
-
Iwatsubo, T., Mann, D. M. A., Odaka, A., Suzuki, N. & Ihara, Y. Amyloid β protein (Aβ) deposition: Aβ42(43) precedes Aβ40 in Down syndrome. Ann. Neurol. 37, 294-299 (1995).
-
(1995)
Ann. Neurol.
, vol.37
, pp. 294-299
-
-
Iwatsubo, T.1
Mann, D.M.A.2
Odaka, A.3
Suzuki, N.4
Ihara, Y.5
-
75
-
-
0035997524
-
Intraneuronal Aβ42 accumulation in Down syndrome brain
-
Mori, C. et al. Intraneuronal Aβ42 accumulation in Down syndrome brain. Amyloid 9, 88-102 (2002).
-
(2002)
Amyloid
, vol.9
, pp. 88-102
-
-
Mori, C.1
-
76
-
-
33947261641
-
Intraneuronal Aβ immunoreactivity is not a predictor of brain amyloidosis-β or neurofibrillary degeneration
-
Wegiel, J. et al. Intraneuronal Aβ immunoreactivity is not a predictor of brain amyloidosis-β or neurofibrillary degeneration. Acta Neuropathol. 11 3, 389-402 (2007).
-
(2007)
Acta Neuropathol.
, vol.113
, pp. 389-402
-
-
Wegiel, J.1
-
77
-
-
0021956826
-
Occurrence of neuropathological changes and dementia of Alzheimer's disease in Down's syndrome
-
Wisniewski, K. E., Wisniewski, H. M. & Wen, G. Y. Occurrence of neuropathological changes and dementia of Alzheimer's disease in Down's syndrome. Ann. Neurol. 17, 278-282 (1985).
-
(1985)
Ann. Neurol.
, vol.17
, pp. 278-282
-
-
Wisniewski, K.E.1
Wisniewski, H.M.2
Wen, G.Y.3
-
78
-
-
0021827420
-
Alzheimer's disease in Down's syndrome: Clinicopathologic studies
-
Wisniewski, K. E., Dalton, A. J., Mclachlan, D. R. C., Wen, G. Y. & Wisniewski, H. M. Alzheimer's disease in Down's syndrome: clinicopathologic studies. Neurology 35, 957-961 (1985).
-
(1985)
Neurology
, vol.35
, pp. 957-961
-
-
Wisniewski, K.E.1
Dalton, A.J.2
McLachlan, D.R.C.3
Wen, G.Y.4
Wisniewski, H.M.5
-
79
-
-
0015896891
-
The development of pathologic changes of Alzheimer's disease and senile dementia in patients with Down's syndrome
-
Burger, P. C. & Vogel, F. S. The development of pathologic changes of Alzheimer's disease and senile dementia in patients with Down's syndrome. Am. J. Pathol. 73, 457-476 (1973).
-
(1973)
Am. J. Pathol.
, vol.73
, pp. 457-476
-
-
Burger, P.C.1
Vogel, F.S.2
-
80
-
-
0030007964
-
Sequence of deposition of heterogeneous amyloid β-peptides and APO e in Down syndrome: Implications for initial events in amyloid plaque formation
-
Lemere, C. A. et al. Sequence of deposition of heterogeneous amyloid β-peptides and APO E in Down syndrome: implications for initial events in amyloid plaque formation. Neurobiol. Dis. 3, 16-32 (1996).
-
(1996)
Neurobiol. Dis.
, vol.3
, pp. 16-32
-
-
Lemere, C.A.1
-
81
-
-
0018859134
-
Neurofibrillary tangles, granulovacuolar degeneration, and neuron loss in Down syndrome: Quantitative comparison with Alzheimer dementia
-
Ball, M. J. & Nuttall, K. Neurofibrillary tangles, granulovacuolar degeneration, and neuron loss in Down syndrome: quantitative comparison with Alzheimer dementia. Ann. Neurol. 7, 462-465 (1980).
-
(1980)
Ann. Neurol.
, vol.7
, pp. 462-465
-
-
Ball, M.J.1
Nuttall, K.2
-
82
-
-
0024503377
-
The pattern of acquisition of plaques and tangles in the brains of patients under 50 years of age with Down's syndrome
-
Mann, D. M. A. & Esiri, M. M. The pattern of acquisition of plaques and tangles in the brains of patients under 50 years of age with Down's syndrome. J. Neurol. Sci. 89, 169-179 (1989).
-
(1989)
J. Neurol. Sci.
, vol.89
, pp. 169-179
-
-
Mann, D.M.A.1
Esiri, M.M.2
-
83
-
-
0020331746
-
The dementia of Down's syndrome and its relevance to etiological studies of Alzheimer's disease
-
Whalley, L. J. The dementia of Down's syndrome and its relevance to etiological studies of Alzheimer's disease. Ann. NY Acad. Sci. 396, 39-53 (1982).
-
(1982)
Ann. NY Acad. Sci.
, vol.396
, pp. 39-53
-
-
Whalley, L.J.1
-
84
-
-
0018852777
-
Relationship between plaques, tangles, and dementia in Down syndrome
-
Ropper, A. H. & Williams, R. S. Relationship between plaques, tangles, and dementia in Down syndrome. Neurology 30, 639-644 (1980).
-
(1980)
Neurology
, vol.30
, pp. 639-644
-
-
Ropper, A.H.1
Williams, R.S.2
-
85
-
-
0023190338
-
Alzheimer-like neurotransmitter deficits in adult Down's syndrome brain tissue
-
Godridge, H., Reynolds, G. P., Czudek, C., Calcutt, N. A. & Benton, M. Alzheimer-like neurotransmitter deficits in adult Down's syndrome brain tissue. J. Neurol. Neurosurg. Psychiatry 50, 775-778 (1987).
-
(1987)
J. Neurol. Neurosurg. Psychiatry
, vol.50
, pp. 775-778
-
-
Godridge, H.1
Reynolds, G.P.2
Czudek, C.3
Calcutt, N.A.4
Benton, M.5
-
86
-
-
0025687381
-
Antigenic profile of plaques and neurofibrillary tangles in the amygdala in Down's syndrome: A comparison with Alzheimer's disease
-
Murphy, G. M. et al. Antigenic profile of plaques and neurofibrillary tangles in the amygdala in Down's syndrome: a comparison with Alzheimer's disease. Brain Res. 537, 102-108 (1990).
-
(1990)
Brain Res.
, vol.537
, pp. 102-108
-
-
Murphy, G.M.1
-
87
-
-
0024602541
-
Age-related-changes in the density and morphology of plaques and neurofibrillary tangles in Down syndrome brain
-
Motte, J. & Williams, R. S. Age-related-changes in the density and morphology of plaques and neurofibrillary tangles in Down syndrome brain. Acta Neuropathol. 77, 535-546 (1989).
-
(1989)
Acta Neuropathol.
, vol.77
, pp. 535-546
-
-
Motte, J.1
Williams, R.S.2
-
88
-
-
0141455220
-
Parallel compensatory and pathological events associated with Tau pathology in middle aged individuals with Down syndrome
-
Head, E. et al. Parallel compensatory and pathological events associated with Tau pathology in middle aged individuals with Down syndrome. J. Neuropathol. Exp. Neurol. 62, 917-926 (2003).
-
(2003)
J. Neuropathol. Exp. Neurol.
, vol.62
, pp. 917-926
-
-
Head, E.1
-
89
-
-
84858046578
-
Neuropathological alterations in Alzheimer disease
-
Serrano-Pozo, A., Frosch, M. P., Masliah, E. & Hyman, B. T. Neuropathological alterations in Alzheimer disease. Cold Spring Harb. Perspect. Med. 1, a006189 (2011).
-
(2011)
Cold Spring Harb. Perspect. Med.
, vol.1
, pp. a006189
-
-
Serrano-Pozo, A.1
Frosch, M.P.2
Masliah, E.3
Hyman, B.T.4
-
90
-
-
0024343222
-
Cerebral amyloidosis, aging and Alzheimer's disease: A contribution from studies on Down's syndrome
-
Mann, D. M. A. Cerebral amyloidosis, aging and Alzheimer's disease: a contribution from studies on Down's syndrome. Neurobiol. Aging 10, 397-399 (1989).
-
(1989)
Neurobiol. Aging
, vol.10
, pp. 397-399
-
-
Mann, D.M.A.1
-
91
-
-
0025305413
-
The natural history of dementia in Down's syndrome
-
Evenhuis, H. M. The natural history of dementia in Down's syndrome. Arch. Neurol. 47, 263-267 (1990).
-
(1990)
Arch. Neurol.
, vol.47
, pp. 263-267
-
-
Evenhuis, H.M.1
-
92
-
-
0031657235
-
A quartet of Down's syndrome, Alzheimer's disease, cerebral amyloid angiopathy, and cerebral haemorrhage: Interacting genetic risk factors
-
McCarron, M. O., Nicoll, J. A. R. & Graham, D. I. A quartet of Down's syndrome, Alzheimer's disease, cerebral amyloid angiopathy, and cerebral haemorrhage: interacting genetic risk factors. J. Neurol. Neurosurg. Psychiatry 65, 405-406 (1998).
-
(1998)
J. Neurol. Neurosurg. Psychiatry
, vol.65
, pp. 405-406
-
-
McCarron, M.O.1
Nicoll, J.A.R.2
Graham, D.I.3
-
93
-
-
77957663933
-
Cerebral amyloid angiopathy as a cause of an extensive brain hemorrhage in adult patient with Down's syndrome - A case report
-
Mendel, T., Bertrand, E., Szpak, G. M., Stepien, T. & Wierzba-Bobrowicz, T. Cerebral amyloid angiopathy as a cause of an extensive brain hemorrhage in adult patient with Down's syndrome - a case report. Folia Neuropathol. 48, 206-211 (2010).
-
(2010)
Folia Neuropathol.
, vol.48
, pp. 206-211
-
-
Mendel, T.1
Bertrand, E.2
Szpak, G.M.3
Stepien, T.4
Wierzba-Bobrowicz, T.5
-
94
-
-
57449090497
-
Cerebral amyloid angiopathy-related hemorrhage in a middle-aged patient with Down's syndrome
-
Naito, K. S., Sekijima, Y. & Ikeda, S. I. Cerebral amyloid angiopathy-related hemorrhage in a middle-aged patient with Down's syndrome. Amyloid 15, 275-277 (2008).
-
(2008)
Amyloid
, vol.15
, pp. 275-277
-
-
Naito, K.S.1
Sekijima, Y.2
Ikeda, S.I.3
-
95
-
-
0031908627
-
Intracerebral hemorrhage in two patients with Down's syndrome and cerebral amyloid angiopathy
-
Donahue, J. E., Khurana, J. S. & Adelman, L. S. Intracerebral hemorrhage in two patients with Down's syndrome and cerebral amyloid angiopathy. Acta Neuropathol. 95, 213-216 (1998).
-
(1998)
Acta Neuropathol.
, vol.95
, pp. 213-216
-
-
Donahue, J.E.1
Khurana, J.S.2
Adelman, L.S.3
-
96
-
-
84867893925
-
Imaging brain amyloid in nondemented young adults with Down syndrome using Pittsburgh compound B
-
Handen, B. L. et al. Imaging brain amyloid in nondemented young adults with Down syndrome using Pittsburgh compound B. Alzheimers Dement. 8, 496-501 (2012).
-
(2012)
Alzheimers Dement.
, vol.8
, pp. 496-501
-
-
Handen, B.L.1
-
97
-
-
79958729432
-
Positron emission tomography of brain β-amyloid and Ta u levels in adults with Down syndrome
-
Nelson, L. D. et al. Positron emission tomography of brain β-amyloid and Ta u levels in adults with Down syndrome. Arch. Neurol. 68, 768-774 (2011).
-
(2011)
Arch. Neurol.
, vol.68
, pp. 768-774
-
-
Nelson, L.D.1
-
98
-
-
84922252802
-
A distinct subfraction of Aβ is responsible for the high-affinity Pittsburgh compound B-binding site in Alzheimer's disease brain
-
Matveev, S. V. et al. A distinct subfraction of Aβ is responsible for the high-affinity Pittsburgh compound B-binding site in Alzheimer's disease brain. J. Neurochem. 131, 356-368 (2014).
-
(2014)
J. Neurochem.
, vol.131
, pp. 356-368
-
-
Matveev, S.V.1
-
99
-
-
84906660618
-
Cognitive functioning in relation to brain amyloid-β in healthy adults with Down syndrome
-
Hartley, S. L. et al. Cognitive functioning in relation to brain amyloid-β in healthy adults with Down syndrome. Brain 137, 2556-2563 (2014).
-
(2014)
Brain
, vol.137
, pp. 2556-2563
-
-
Hartley, S.L.1
-
100
-
-
79960193987
-
Using positron emission tomography and carbon 11-labeled Pittsburgh compound B to image brain fibrillar β-amyloid in adults with Down syndrome safety, acceptability, and feasibility
-
Landt, J. et al. Using positron emission tomography and carbon 11-labeled Pittsburgh compound B to image brain fibrillar β-amyloid in adults with Down syndrome safety, acceptability, and feasibility. Arch. Neurol. 68, 890-896 (2011).
-
(2011)
Arch. Neurol.
, vol.68
, pp. 890-896
-
-
Landt, J.1
-
101
-
-
73549109864
-
Transactive response DNA-binding protein 43 burden in familial Alzheimer disease and Down syndrome
-
Lippa, C. F. et al. Transactive response DNA-binding protein 43 burden in familial Alzheimer disease and Down syndrome. Arch. Neurol. 66, 1483-1488 (2009).
-
(2009)
Arch. Neurol.
, vol.66
, pp. 1483-1488
-
-
Lippa, C.F.1
-
102
-
-
82355181107
-
TDP-43 pathological changes in early onset familial and sporadic Alzheimer's disease, late onset Alzheimer's disease and Down's syndrome: Association with age, hippocampal sclerosis and clinical phenotype
-
Davidson, Y. S. et al. TDP-43 pathological changes in early onset familial and sporadic Alzheimer's disease, late onset Alzheimer's disease and Down's syndrome: association with age, hippocampal sclerosis and clinical phenotype. Acta Neuropathol. 122, 703-713 (2011).
-
(2011)
Acta Neuropathol.
, vol.122
, pp. 703-713
-
-
Davidson, Y.S.1
-
103
-
-
0024381241
-
A pathological study of the association between Lewy body disease and Alzheimer's disease
-
Gibb, W. R. G., Mountjoy, C. Q., Mann, D. M. A. & Lees, A. J. A pathological study of the association between Lewy body disease and Alzheimer's disease. J. Neurol. Neurosurg. Psychiatry 52, 701-708 (1989).
-
(1989)
J. Neurol. Neurosurg. Psychiatry
, vol.52
, pp. 701-708
-
-
Gibb, W.R.G.1
Mountjoy, C.Q.2
Mann, D.M.A.3
Lees, A.J.4
-
104
-
-
77952825730
-
The first confirmed case of Down syndrome with dementia with Lewy bodies
-
Prasher, V. P., Airuehia, E. & Carey, M. The first confirmed case of Down syndrome with dementia with Lewy bodies. J. Appl. Res. Intellect. Disabil. 23, 296-300 (2010).
-
(2010)
J. Appl. Res. Intellect. Disabil.
, vol.23
, pp. 296-300
-
-
Prasher, V.P.1
Airuehia, E.2
Carey, M.3
-
105
-
-
4644319713
-
Aβ localization in abnormal endosomes: Association with earliest Aβ elevations in AD and Down syndrome
-
Cataldo, A. M. et al. Aβ localization in abnormal endosomes: association with earliest Aβ elevations in AD and Down syndrome. Neurobiol. Aging 25, 1263-1272 (2004).
-
(2004)
Neurobiol. Aging
, vol.25
, pp. 1263-1272
-
-
Cataldo, A.M.1
-
106
-
-
84888317489
-
Meta-analysis of 74, 046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
-
Lambert, J. C. et al. Meta-analysis of 74, 046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat. Genet. 45, 1452-1458 (2013).
-
(2013)
Nat. Genet.
, vol.45
, pp. 1452-1458
-
-
Lambert, J.C.1
-
107
-
-
84901272549
-
Rare autosomal copy number variations in early-onset familial Alzheimer's disease
-
Hooli, B. V. et al. Rare autosomal copy number variations in early-onset familial Alzheimer's disease. Mol. Psychiatry 19, 676-681 (2014).
-
(2014)
Mol. Psychiatry
, vol.19
, pp. 676-681
-
-
Hooli, B.V.1
-
108
-
-
84900465770
-
Large APP locus duplication in a sporadic case of cerebral haemorrhage
-
Llado, A. et al. Large APP locus duplication in a sporadic case of cerebral haemorrhage. Neurogenetics 15, 145-149 (2014).
-
(2014)
Neurogenetics
, vol.15
, pp. 145-149
-
-
Llado, A.1
-
109
-
-
33749066060
-
Phenotype associated with APP duplication in five families
-
Cabrejo, L. et al. Phenotype associated with APP duplication in five families. Brain 129, 2966-2976 (2006).
-
(2006)
Brain
, vol.129
, pp. 2966-2976
-
-
Cabrejo, L.1
-
110
-
-
78651278360
-
A perfect storm: Converging paths of epilepsy and Alzheimer's dementia intersect in the hippocampal formation
-
Noebels, J. A perfect storm: converging paths of epilepsy and Alzheimer's dementia intersect in the hippocampal formation. Epilepsia 52, 39-46 (2011).
-
(2011)
Epilepsia
, vol.52
, pp. 39-46
-
-
Noebels, J.1
-
112
-
-
79955785235
-
Meta-analysis of heterogeneous Down syndrome data reveals consistent genome-wide dosage effects related to neurological processes
-
Vilardell, M. et al. Meta-analysis of heterogeneous Down syndrome data reveals consistent genome-wide dosage effects related to neurological processes. BMC Genomics 12, 229 (2011).
-
(2011)
BMC Genomics
, vol.12
, pp. 229
-
-
Vilardell, M.1
-
113
-
-
84898945538
-
Domains of genome-wide gene expression dysregulation in Down's syndrome
-
Letourneau, A. et al. Domains of genome-wide gene expression dysregulation in Down's syndrome. Nature 508, 345-350 (2014).
-
(2014)
Nature
, vol.508
, pp. 345-350
-
-
Letourneau, A.1
-
114
-
-
84927909490
-
Accelerated epigenetic aging in Down syndrome
-
Horvath, S. et al. Accelerated epigenetic aging in Down syndrome. Aging Cell 14, 491-495 (2015).
-
(2015)
Aging Cell
, vol.14
, pp. 491-495
-
-
Horvath, S.1
-
115
-
-
49749099317
-
Protein expression of BACE1, BACE2 and APP in Down syndrome brains
-
Cheon, M. S., Dierssen, M., Kim, S. H. & Lubec, G. Protein expression of BACE1, BACE2 and APP in Down syndrome brains. Amino Acids 35, 339-343 (2008).
-
(2008)
Amino Acids
, vol.35
, pp. 339-343
-
-
Cheon, M.S.1
Dierssen, M.2
Kim, S.H.3
Lubec, G.4
-
116
-
-
69949189925
-
Age-dependent dysregulation of brain amyloid precursor protein in the Ts65Dn Down syndrome mouse model
-
Choi, J. H. K. et al. Age-dependent dysregulation of brain amyloid precursor protein in the Ts65Dn Down syndrome mouse model. J. Neurochem. 110, 1818-1827 (2009).
-
(2009)
J. Neurochem.
, vol.110
, pp. 1818-1827
-
-
Choi, J.H.K.1
-
117
-
-
18244388693
-
Abnormal APP, cholinergic and cognitive function in Ts65Dn Down's model mice
-
Seo, H. & Isacson, O. Abnormal APP, cholinergic and cognitive function in Ts65Dn Down's model mice. Exp. Neurol. 193, 469-480 (2005).
-
(2005)
Exp. Neurol.
, vol.193
, pp. 469-480
-
-
Seo, H.1
Isacson, O.2
-
118
-
-
13344293701
-
Presence of soluble amyloid β-peptide precedes amyloid plaque formation in Down's syndrome
-
Teller, J. K. et al. Presence of soluble amyloid β-peptide precedes amyloid plaque formation in Down's syndrome. Nat. Med. 2, 93-95 (1996).
-
(1996)
Nat. Med.
, vol.2
, pp. 93-95
-
-
Teller, J.K.1
-
119
-
-
0037186074
-
Altered metabolism of the amyloid β precursor protein is associated with mitochondrial dysfunction in Down's syndrome
-
Busciglio, J. et al. Altered metabolism of the amyloid β precursor protein is associated with mitochondrial dysfunction in Down's syndrome. Neuron 33, 677-688 (2002).
-
(2002)
Neuron
, vol.33
, pp. 677-688
-
-
Busciglio, J.1
-
120
-
-
10244263597
-
Fibroblasts of patients affected by Down's syndrome oversecrete amyloid precursor protein and are hyporesponsive to protein kinase C stimulation
-
Govoni, S. et al. Fibroblasts of patients affected by Down's syndrome oversecrete amyloid precursor protein and are hyporesponsive to protein kinase C stimulation. Neurology 47, 1069-1075 (1996).
-
(1996)
Neurology
, vol.47
, pp. 1069-1075
-
-
Govoni, S.1
-
121
-
-
84929738623
-
Isogenic induced pluripotent stem cell lines from an adult with mosaic Down syndrome model accelerated neuronal ageing and neurodegeneration
-
Murray, A., Letourneau, A. & Canzonetta, C. Isogenic induced pluripotent stem cell lines from an adult with mosaic Down syndrome model accelerated neuronal ageing and neurodegeneration. Stem Cells 33, 2077-2084 (2015).
-
(2015)
Stem Cells
, vol.33
, pp. 2077-2084
-
-
Murray, A.1
Letourneau, A.2
Canzonetta, C.3
-
122
-
-
84863229339
-
A human stem cell model of early Alzheimer's disease pathology in Down syndrome
-
Shi, Y. C. et al. A human stem cell model of early Alzheimer's disease pathology in Down syndrome. Sci. Transl. Med. 4, 124ra29 (2012).
-
(2012)
Sci. Transl. Med.
, vol.4
, pp. 124ra29
-
-
Shi, Y.C.1
-
123
-
-
0142075827
-
The chromosome 21 transcription factor ETS2 transactivates the β-APP promoter: Implications for Down syndrome
-
Wolvetang, E. W. et al. The chromosome 21 transcription factor ETS2 transactivates the β-APP promoter: implications for Down syndrome. Biochim. Biophys. Acta 1628, 105-110 (2003).
-
(2003)
Biochim. Biophys. Acta
, vol.1628
, pp. 105-110
-
-
Wolvetang, E.W.1
-
124
-
-
34249704660
-
Modulation of Aβ generation by small ubiquitin-like modifiers does not require conjugation to target proteins
-
Dorval, V., Mazzella, M. J., Mathews, P. M., Hay, R. T. & Fraser, P. E. Modulation of Aβ generation by small ubiquitin-like modifiers does not require conjugation to target proteins. Biochem. J. 404, 309-316 (2007).
-
(2007)
Biochem. J.
, vol.404
, pp. 309-316
-
-
Dorval, V.1
Mazzella, M.J.2
Mathews, P.M.3
Hay, R.T.4
Fraser, P.E.5
-
125
-
-
0037422599
-
Positive and negative regulation of APP amyloidogenesis by sumoylation
-
Li, Y. H. et al. Positive and negative regulation of APP amyloidogenesis by sumoylation. Proc. Natl Acad. Sci. USA 100, 259-264 (2003).
-
(2003)
Proc. Natl Acad. Sci. USA
, vol.100
, pp. 259-264
-
-
Li, Y.H.1
-
126
-
-
39749196069
-
Dual-specificity tyrosine(Y)-phosphorylation regulated kinase 1A-mediated phosphorylation of amyloid precursor protein: Evidence for a functional link between Down syndrome and Alzheimer's disease
-
Ryoo, S. R. et al. Dual-specificity tyrosine(Y)-phosphorylation regulated kinase 1A-mediated phosphorylation of amyloid precursor protein: evidence for a functional link between Down syndrome and Alzheimer's disease. J. Neurochem. 104, 1333-1344 (2008).
-
(2008)
J. Neurochem.
, vol.104
, pp. 1333-1344
-
-
Ryoo, S.R.1
-
127
-
-
84919731523
-
Sorting nexin 27 regulates Aβ production through modulating y-secretase activity
-
Wang, X. et al. Sorting nexin 27 regulates Aβ production through modulating y-secretase activity. Cell Rep. 9, 1023-1033 (2014).
-
(2014)
Cell Rep.
, vol.9
, pp. 1023-1033
-
-
Wang, X.1
-
128
-
-
84903370910
-
Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome
-
1513.e1-1513.e5
-
Mok, K. Y. et al. Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome. Neurobiol. Aging 35, 1513.e1-1513.e5 (2014).
-
(2014)
Neurobiol. Aging
, vol.35
-
-
Mok, K.Y.1
-
129
-
-
33746549926
-
BACE2, as a novel APP 6-secretase, is not responsible for the pathogenesis of Alzheimer's disease in Down syndrome
-
Sun, X. L., He, G. Q. & Song, W. H. BACE2, as a novel APP 6-secretase, is not responsible for the pathogenesis of Alzheimer's disease in Down syndrome. FASEB J. 20, 1369-1376 (2006).
-
(2006)
FASEB J.
, vol.20
, pp. 1369-1376
-
-
Sun, X.L.1
He, G.Q.2
Song, W.H.3
-
130
-
-
78449295431
-
In vivo effects of APP are not exacerbated by BACE2 co-overexpression: Behavioural characterization of a double transgenic mouse model
-
Azkona, G., Levannon, D., Groner, Y. & Dierssen, M. In vivo effects of APP are not exacerbated by BACE2 co-overexpression: behavioural characterization of a double transgenic mouse model. Amino Acids 39, 1571-1580 (2010).
-
(2010)
Amino Acids
, vol.39
, pp. 1571-1580
-
-
Azkona, G.1
Levannon, D.2
Groner, Y.3
Dierssen, M.4
-
131
-
-
83455164148
-
BACE2 expression increases in human neurodegenerative disease
-
Holler, C. J. et al. BACE2 expression increases in human neurodegenerative disease. Am. J. Pathol. 180, 337-350 (2012).
-
(2012)
Am. J. Pathol.
, vol.180
, pp. 337-350
-
-
Holler, C.J.1
-
132
-
-
78650213615
-
Association of variants within APOE, SORL1, RUNX1, BACE1 and ALDH18A1 with dementia in Alzheimer's disease in subjects with Down syndrome
-
Patel, A. et al. Association of variants within APOE, SORL1, RUNX1, BACE1 and ALDH18A1 with dementia in Alzheimer's disease in subjects with Down syndrome. Neurosci. Lett. 487, 144-148 (2011).
-
(2011)
Neurosci. Lett.
, vol.487
, pp. 144-148
-
-
Patel, A.1
-
133
-
-
58649119608
-
Significant effect of APOE epsilon 4 genotype on the risk of dementia in Alzheimer's disease and mortality in persons with Down syndrome
-
Prasher, V. P. et al. Significant effect of APOE epsilon 4 genotype on the risk of dementia in Alzheimer's disease and mortality in persons with Down syndrome. Int. J. Geriatr. Psychiatry 23, 1134-1140 (2008).
-
(2008)
Int. J. Geriatr. Psychiatry
, vol.23
, pp. 1134-1140
-
-
Prasher, V.P.1
-
134
-
-
0033623888
-
APOE epsilon 4 influences the manifestation of Alzheimer's disease in adults with Down's syndrome
-
Deb, S. et al. APOE epsilon 4 influences the manifestation of Alzheimer's disease in adults with Down's syndrome. Br. J. Psychiatry 176, 468-472 (2000).
-
(2000)
Br. J. Psychiatry
, vol.176
, pp. 468-472
-
-
Deb, S.1
-
135
-
-
42949157276
-
The impact of apolipoprotein e on dementia in persons with Down's syndrome
-
Coppus, A. M. W. et al. The impact of apolipoprotein E on dementia in persons with Down's syndrome. Neurobiol. Aging 29, 828-835 (2008).
-
(2008)
Neurobiol. Aging
, vol.29
, pp. 828-835
-
-
Coppus, A.M.W.1
-
136
-
-
0029844434
-
Onset of dementia is associated with apolipoprotein e epsilon 4 in Down's syndrome
-
Schupf, N. et al. Onset of dementia is associated with apolipoprotein E epsilon 4 in Down's syndrome. Ann. Neurol. 40, 799-801 (1996).
-
(1996)
Ann. Neurol.
, vol.40
, pp. 799-801
-
-
Schupf, N.1
-
137
-
-
0028899724
-
Quantitative analysis of senile plaques in Alzheimer disease: Observation of log-normal size distribution and molecular epidemiology of differences associated with apolipoprotein e genotype and trisomy 21 (Down syndrome)
-
Hyman, B. T. et al. Quantitative analysis of senile plaques in Alzheimer disease: observation of log-normal size distribution and molecular epidemiology of differences associated with apolipoprotein E genotype and trisomy 21 (Down syndrome). Proc. Natl Acad. Sci. USA 92, 3586-3590 (1995).
-
(1995)
Proc. Natl Acad. Sci. USA
, vol.92
, pp. 3586-3590
-
-
Hyman, B.T.1
-
138
-
-
0028670363
-
Apolipoprotein-e epsilon-2 allele promotes longevity and protects patients with Down's syndrome from dementia
-
Royston, M. C. et al. Apolipoprotein-e epsilon-2 allele promotes longevity and protects patients with Down's syndrome from dementia. Neuroreport 5, 2583-2585 (1994).
-
(1994)
Neuroreport
, vol.5
, pp. 2583-2585
-
-
Royston, M.C.1
-
139
-
-
84879880379
-
Evidence that PICALM affects age at onset of Alzheimer's dementia in Down syndrome
-
2441.e1-2441.e5
-
Jones, E. L. et al. Evidence that PICALM affects age at onset of Alzheimer's dementia in Down syndrome. Neurobiol. Aging 34, 2441.e1-2441.e5 (2013).
-
(2013)
Neurobiol. Aging
, vol.34
-
-
Jones, E.L.1
-
140
-
-
34548617769
-
Association between genetic variants in sortilin-related receptor 1 (SORL1) and Alzheimer's disease in adults with Down syndrome
-
Lee, J. H. et al. Association between genetic variants in sortilin-related receptor 1 (SORL1) and Alzheimer's disease in adults with Down syndrome. Neurosci. Lett. 425, 105-109 (2007).
-
(2007)
Neurosci. Lett.
, vol.425
, pp. 105-109
-
-
Lee, J.H.1
-
141
-
-
33745512851
-
Increased App expression in a mouse model of Down's syndrome disrupts NGF transport and causes cholinergic neuron degeneration
-
Salehi, A. et al. Increased App expression in a mouse model of Down's syndrome disrupts NGF transport and causes cholinergic neuron degeneration. Neuron 51, 29-42 (2006).
-
(2006)
Neuron
, vol.51
, pp. 29-42
-
-
Salehi, A.1
-
142
-
-
0033529031
-
Neuronal overexpression of APPL, the Drosophila homologue of the amyloid precursor protein (APP), disrupts axonal transport
-
Torroja, L, Chu, H., Kotovsky, I. & White, K. Neuronal overexpression of APPL, the Drosophila homologue of the amyloid precursor protein (APP), disrupts axonal transport. Curr. Biol. 9, 489-492 (1999).
-
(1999)
Curr. Biol.
, vol.9
, pp. 489-492
-
-
Torroja, L.1
Chu, H.2
Kotovsky, I.3
White, K.4
-
143
-
-
76549096350
-
Alzheimer's-related endosome dysfunction in Down syndrome is Aβ-independent but requires APP and is reversed by BACE-1 inhibition
-
Jiang, Y. et al. Alzheimer's-related endosome dysfunction in Down syndrome is Aβ-independent but requires APP and is reversed by BACE-1 inhibition. Proc. Natl Acad. Sci. USA 107, 1630-1635 (2010).
-
(2010)
Proc. Natl Acad. Sci. USA
, vol.107
, pp. 1630-1635
-
-
Jiang, Y.1
-
144
-
-
77958141155
-
Oligomeric Dop1p is part of the endosomal Neo1p-Ysl2p-Arl1p membrane remodeling complex
-
Barbosa, S., Pratte, D., Schwarz, H., Pipkorn, R. & Singer-Kruger, B. Oligomeric Dop1p is part of the endosomal Neo1p-Ysl2p-Arl1p membrane remodeling complex. Traffic 11, 1092-1106 (2010).
-
(2010)
Traffic
, vol.11
, pp. 1092-1106
-
-
Barbosa, S.1
Pratte, D.2
Schwarz, H.3
Pipkorn, R.4
Singer-Kruger, B.5
-
145
-
-
84866687636
-
Analysis of copy number variation in Alzheimer's disease: The NIA-LOAD/NCRAD family study
-
Swaminathan, S. et al. Analysis of copy number variation in Alzheimer's disease: the NIA-LOAD/NCRAD family study. Curr. Alzheimer Res. 9, 801-814 (2012).
-
(2012)
Curr. Alzheimer Res.
, vol.9
, pp. 801-814
-
-
Swaminathan, S.1
-
146
-
-
84873051400
-
A genome-wide study shows a limited contribution of rare copy number variants to Alzheimer's disease risk
-
Chapman, J. et al. A genome-wide study shows a limited contribution of rare copy number variants to Alzheimer's disease risk. Hum. Mol. Genet. 22, 816-824 (2013).
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 816-824
-
-
Chapman, J.1
-
147
-
-
78650716872
-
Reversal of autophagy dysfunction in the TgCRND8 mouse model of Alzheimer's disease ameliorates amyloid pathologies and memory deficits
-
Yang, D. S. et al. Reversal of autophagy dysfunction in the TgCRND8 mouse model of Alzheimer's disease ameliorates amyloid pathologies and memory deficits. Brain 134, 258-277 (2011).
-
(2011)
Brain
, vol.134
, pp. 258-277
-
-
Yang, D.S.1
-
148
-
-
84864018180
-
Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes
-
Cossec, J. C. et al. Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes. Hum. Mol. Genet. 21, 3156-3172 (2012).
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 3156-3172
-
-
Cossec, J.C.1
-
149
-
-
84868145167
-
Reduction of synaptojanin 1 ameliorates synaptic and behavioral impairments in a mouse model of Alzheimer's disease
-
McIntire, L. B. J. et al. Reduction of synaptojanin 1 ameliorates synaptic and behavioral impairments in a mouse model of Alzheimer's disease. J. Neurosci. 32, 15271-15276 (2012).
-
(2012)
J. Neurosci.
, vol.32
, pp. 15271-15276
-
-
McIntire, L.B.J.1
-
150
-
-
84887093581
-
Reduction of synaptojanin 1 accelerates Aβ clearance and attenuates cognitive deterioration in an Alzheimer mouse model
-
Zhu, L. et al. Reduction of synaptojanin 1 accelerates Aβ clearance and attenuates cognitive deterioration in an Alzheimer mouse model. J. Biol. Chem. 288, 32050-32063 (2013).
-
(2013)
J. Biol. Chem.
, vol.288
, pp. 32050-32063
-
-
Zhu, L.1
-
151
-
-
0029417023
-
Apoptosis and increased generation of reactive oxygen species in Down's syndrome neurons in vitro
-
Busciglio, J. & Yankner, B. A. Apoptosis and increased generation of reactive oxygen species in Down's syndrome neurons in vitro. Nature 378, 776-779 (1995).
-
(1995)
Nature
, vol.378
, pp. 776-779
-
-
Busciglio, J.1
Yankner, B.A.2
-
152
-
-
33748744258
-
Mitochondrial dysfunction and tau hyperphosphorylation in Ts1Cje, a mouse model for Down syndrome
-
Shukkur, E. A. et al. Mitochondrial dysfunction and tau hyperphosphorylation in Ts1Cje, a mouse model for Down syndrome. Hum. Mol. Genet. 15, 2752-2762 (2006).
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 2752-2762
-
-
Shukkur, E.A.1
-
153
-
-
84894156694
-
31 P-MRS study
-
31 P-MRS study. PLoS ONE 8, e84031 (2013).
-
(2013)
PLoS ONE
, vol.8
, pp. e84031
-
-
Phillips, A.C.1
-
154
-
-
84878977690
-
Deficits in human trisomy 21 iPSCs and neurons
-
Weick, J. P. et al. Deficits in human trisomy 21 iPSCs and neurons. Proc. Natl Acad. Sci. USA 110, 9962-9967 (2013).
-
(2013)
Proc. Natl Acad. Sci. USA
, vol.110
, pp. 9962-9967
-
-
Weick, J.P.1
-
155
-
-
84891831593
-
Atypical aging in Down syndrome
-
Zigman, W. B. Atypical aging in Down syndrome. Dev. Disabil. Res. Rev. 18, 51-67 (2013).
-
(2013)
Dev. Disabil. Res. Rev.
, vol.18
, pp. 51-67
-
-
Zigman, W.B.1
-
156
-
-
84891960724
-
Mitochondria impact brain function and cognition
-
Picard, M. & Mcewen, B. S. Mitochondria impact brain function and cognition. Proc. Natl Acad. Sci. USA 111, 7-8 (2014).
-
(2014)
Proc. Natl Acad. Sci. USA
, vol.111
, pp. 7-8
-
-
Picard, M.1
McEwen, B.S.2
-
157
-
-
79960555491
-
Down syndrome and dementia: A randomized, controlled trial of antioxidant supplementation
-
Lott, I. T. et al. Down syndrome and dementia: a randomized, controlled trial of antioxidant supplementation. Am. J. Med. Genet. A 155A, 1939-1948 (2011).
-
(2011)
Am. J. Med. Genet. A
, vol.155 A
, pp. 1939-1948
-
-
Lott, I.T.1
-
158
-
-
9844255568
-
Genetic modification of the phenotypes produced by amyloid precursor protein overexpression in transgenic mice
-
Carlson, G. A. et al. Genetic modification of the phenotypes produced by amyloid precursor protein overexpression in transgenic mice. Hum. Mol. Genet. 6, 1951-1959 (1997).
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1951-1959
-
-
Carlson, G.A.1
-
159
-
-
84455161651
-
SOD1 (copper/zinc superoxide dismutase) deficiency drives amyloid β protein oligomerization and memory loss in mouse model of Alzheimer disease
-
Murakami, K. et al. SOD1 (copper/zinc superoxide dismutase) deficiency drives amyloid β protein oligomerization and memory loss in mouse model of Alzheimer disease. J. Biol. Chem. 286, 44557-44568 (2011).
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 44557-44568
-
-
Murakami, K.1
-
160
-
-
84865583560
-
Oxidative stress and memory decline in adults with Down syndrome: Longitudinal study
-
Zis, P., Dickinson, M., Shende, S., Walker, Z. & Strydom, A. Oxidative stress and memory decline in adults with Down syndrome: longitudinal study. J. Alzheimers Dis. 31, 277-283 (2012).
-
(2012)
J. Alzheimers Dis.
, vol.31
, pp. 277-283
-
-
Zis, P.1
Dickinson, M.2
Shende, S.3
Walker, Z.4
Strydom, A.5
-
161
-
-
0030068056
-
Elevation in the ratio of Cu/Zn-superoxide dismutase to glutathione peroxidase activity induces features of cellular senescence and this effect is mediated by hydrogen peroxide
-
deHaan, J. B. et al. Elevation in the ratio of Cu/Zn-superoxide dismutase to glutathione peroxidase activity induces features of cellular senescence and this effect is mediated by hydrogen peroxide. Hum. Mol. Genet. 5, 283-292 (1996).
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 283-292
-
-
deHaan, J.B.1
-
162
-
-
84879099111
-
Abnormal brain synchrony in Down syndrome
-
Anderson, J. S. et al. Abnormal brain synchrony in Down syndrome. Neuroimage Clin. 2, 703-715 (2013).
-
(2013)
Neuroimage Clin.
, vol.2
, pp. 703-715
-
-
Anderson, J.S.1
-
163
-
-
59649101958
-
Excitatory-inhibitory relationship in the fascia dentata in the Ts65Dn mouse model of down syndrome
-
Belichenko, P. V. et al. Excitatory-inhibitory relationship in the fascia dentata in the Ts65Dn mouse model of down syndrome. J. Comp. Neurol. 512, 453-466 (2008).
-
(2008)
J. Comp. Neurol.
, vol.512
, pp. 453-466
-
-
Belichenko, P.V.1
-
164
-
-
33947673494
-
Pharmacotherapy for cognitive impairment in a mouse model of Down syndrome
-
Fernandez, F. et al. Pharmacotherapy for cognitive impairment in a mouse model of Down syndrome. Nat. Neurosci. 10, 411-413 (2007).
-
(2007)
Nat. Neurosci.
, vol.10
, pp. 411-413
-
-
Fernandez, F.1
-
165
-
-
0025071591
-
Brain growth in Down syndrome subjects 15 to 22 weeks of gestational age and birth to 60 months
-
Schmidt-Sidor, B., Wisniewski, K. E., Shepard, T. H. & Sersen, E. A. Brain growth in Down syndrome subjects 15 to 22 weeks of gestational age and birth to 60 months. Clin. Neuropathol. 9, 181-190 (1990).
-
(1990)
Clin. Neuropathol.
, vol.9
, pp. 181-190
-
-
Schmidt-Sidor, B.1
Wisniewski, K.E.2
Shepard, T.H.3
Sersen, E.A.4
-
166
-
-
0019419703
-
Abnormal neuronal development in the visual cortex of the human fetus and infant with down's syndrome. A quantitative and qualitative Golgi study
-
Takashima, S., Becker, L. E., Armstrong, D. L. & Chan, F. Abnormal neuronal development in the visual cortex of the human fetus and infant with down's syndrome. A quantitative and qualitative Golgi study. Brain Res. 225, 1-21 (1981).
-
(1981)
Brain Res.
, vol.225
, pp. 1-21
-
-
Takashima, S.1
Becker, L.E.2
Armstrong, D.L.3
Chan, F.4
-
167
-
-
84884412859
-
Usp16 contributes to somatic stem-cell defects in Down's syndrome
-
Adorno, M. et al. Usp16 contributes to somatic stem-cell defects in Down's syndrome. Nature 501, 380-384 (2013).
-
(2013)
Nature
, vol.501
, pp. 380-384
-
-
Adorno, M.1
-
168
-
-
51149115754
-
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome
-
Canzonetta, C. et al. DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome. Am. J. Hum. Genet. 83, 388-400 (2008).
-
(2008)
Am. J. Hum. Genet.
, vol.83
, pp. 388-400
-
-
Canzonetta, C.1
-
169
-
-
84893772144
-
Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21
-
Hibaoui, Y. et al. Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21. EMBO Mol. Med. 6, 259-277 (2014).
-
(2014)
EMBO Mol. Med.
, vol.6
, pp. 259-277
-
-
Hibaoui, Y.1
-
170
-
-
70350130798
-
Upregulation of three Drosophila homologs of human chromosome 21 genes alters synaptic function: Implications for Down syndrome
-
Chang, K. T. & Min, K. T. Upregulation of three Drosophila homologs of human chromosome 21 genes alters synaptic function: implications for Down syndrome. Proc. Natl Acad. Sci. USA 106, 17117-17122 (2009).
-
(2009)
Proc. Natl Acad. Sci. USA
, vol.106
, pp. 17117-17122
-
-
Chang, K.T.1
Min, K.T.2
-
171
-
-
84878545717
-
Overexpression of Down syndrome cell adhesion molecule impairs precise synaptic targeting
-
Cvetkovska, V., Hibbert, A. D., Emran, F. & Chen, B. E. Overexpression of Down syndrome cell adhesion molecule impairs precise synaptic targeting. Nat. Neurosci. 16, 677-682 (2013).
-
(2013)
Nat. Neurosci.
, vol.16
, pp. 677-682
-
-
Cvetkovska, V.1
Hibbert, A.D.2
Emran, F.3
Chen, B.E.4
-
172
-
-
84907482998
-
The amyloid precursor protein controls adult hippocampal neurogenesis through GABAergic interneurons
-
Wang, B. P. et al. The amyloid precursor protein controls adult hippocampal neurogenesis through GABAergic interneurons. J. Neurosci. 34, 13314-13325 (2014).
-
(2014)
J. Neurosci.
, vol.34
, pp. 13314-13325
-
-
Wang, B.P.1
-
173
-
-
84903190834
-
Amyloid precursor protein and neural development
-
Nicolas, M. & Hassan, B. A. Amyloid precursor protein and neural development. Development 141, 2543-2548 (2014).
-
(2014)
Development
, vol.141
, pp. 2543-2548
-
-
Nicolas, M.1
Hassan, B.A.2
-
174
-
-
33745375301
-
The cognitive phenotype of Down syndrome: Insights from intracellular network analysis
-
Ma'ayan, A., Gardiner, K. J. & Iyengar, R. The cognitive phenotype of Down syndrome: insights from intracellular network analysis. NeuroRx 3, 396-406 (2006).
-
(2006)
NeuroRx
, vol.3
, pp. 396-406
-
-
Ma'Ayan, A.1
Gardiner, K.J.2
Iyengar, R.3
-
175
-
-
0027753055
-
Dephosphorylation of Tau-protein and Alzheimer paired helical filaments by calcineurin and phosphatase-2A
-
Drewes, G. et al. Dephosphorylation of Tau-protein and Alzheimer paired helical filaments by calcineurin and phosphatase-2A. Febs Lett. 336, 425-432 (1993).
-
(1993)
Febs Lett.
, vol.336
, pp. 425-432
-
-
Drewes, G.1
-
176
-
-
51349109221
-
Overexpression of Dyrk1A contributes to neurofibrillary degeneration in Down syndrome
-
Liu, F. et al. Overexpression of Dyrk1A contributes to neurofibrillary degeneration in Down syndrome. FASEB J. 22, 3224-3233 (2008).
-
(2008)
FASEB J.
, vol.22
, pp. 3224-3233
-
-
Liu, F.1
-
177
-
-
0035340295
-
212: Potential role for DYRK as a glycogen synthase kinase 3-priming kinase
-
212: potential role for DYRK as a glycogen synthase kinase 3-priming kinase. Biochem. J. 355, 609-615 (2001).
-
(2001)
Biochem. J.
, vol.355
, pp. 609-615
-
-
Woods, Y.L.1
-
178
-
-
33846430088
-
Trisomy-driven overexpression of DYRK1A kinase in the brain of subjects with Down syndrome
-
Dowjat, W. K. et al. Trisomy-driven overexpression of DYRK1A kinase in the brain of subjects with Down syndrome. Neurosci. Lett. 413, 77-81 (2007).
-
(2007)
Neurosci. Lett.
, vol.413
, pp. 77-81
-
-
Dowjat, W.K.1
-
179
-
-
57649134248
-
Increased dosage of Dyrk1A alters alternative splicing factor (ASF)-regulated alternative splicing of Tau in Down syndrome
-
Shi, J. et al. Increased dosage of Dyrk1A alters alternative splicing factor (ASF)-regulated alternative splicing of Tau in Down syndrome. J. Biol. Chem. 283, 28660-28669 (2008).
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 28660-28669
-
-
Shi, J.1
-
180
-
-
78650679575
-
Link between DYRK1A overexpression and several-fold enhancement of neurofibrillary degeneration with 3-repeat Tau protein in Down syndrome
-
Wegiel, J. et al. Link between DYRK1A overexpression and several-fold enhancement of neurofibrillary degeneration with 3-repeat Tau protein in Down syndrome. J. Neuropathol. Exp. Neurol. 70, 36-50 (2011).
-
(2011)
J. Neuropathol. Exp. Neurol.
, vol.70
, pp. 36-50
-
-
Wegiel, J.1
-
181
-
-
84933677790
-
APP metabolism regulates Ta u protestasis in human cerebral cortex neurons
-
Moore, S. et al. APP metabolism regulates Ta u protestasis in human cerebral cortex neurons. Cell Rep. 11, 689-696 (2015).
-
(2015)
Cell Rep.
, vol.11
, pp. 689-696
-
-
Moore, S.1
-
182
-
-
84897386660
-
REST and stress resistance in ageing and Alzheimer's disease
-
Lu, T. et al. REST and stress resistance in ageing and Alzheimer's disease. Nature 507, 448-454 (2014).
-
(2014)
Nature
, vol.507
, pp. 448-454
-
-
Lu, T.1
-
183
-
-
33846533244
-
The DYRK1A gene, encoded in chromosome 21 Down syndrome critical region, bridges between β-amyloid production and tau phosphorylation in Alzheimer disease
-
Kimura, R. et al. The DYRK1A gene, encoded in chromosome 21 Down syndrome critical region, bridges between β-amyloid production and tau phosphorylation in Alzheimer disease. Hum. Mol. Genet. 16, 15-23 (2007).
-
(2007)
Hum. Mol. Genet.
, vol.16
, pp. 15-23
-
-
Kimura, R.1
-
184
-
-
73249117681
-
DYRK1A genetic variants are not linked to Alzheimer's disease in a Spanish case-control cohort
-
Vazquez-Higuera, J. L. et al. DYRK1A genetic variants are not linked to Alzheimer's disease in a Spanish case-control cohort. BMC Med. Genet. 10, 129 (2009).
-
(2009)
BMC Med. Genet.
, vol.10
, pp. 129
-
-
Vazquez-Higuera, J.L.1
-
185
-
-
84902649164
-
Toward onset prevention of cognitive decline in adults with Down syndrome (the TOP-COG study): Study protocol for a randomized controlled trial
-
Cooper, S. A. et al. Toward onset prevention of cognitive decline in adults with Down syndrome (the TOP-COG study): study protocol for a randomized controlled trial. Trials 15, 202 (2014).
-
(2014)
Trials
, vol.15
, Issue.202
-
-
Cooper, S.A.1
-
186
-
-
84906877047
-
Molecular mechanisms of cellular cholesterol efflux
-
Phillips, M. C. Molecular mechanisms of cellular cholesterol efflux. J. Biol. Chem. 289, 24020-24029 (2014).
-
(2014)
J. Biol. Chem.
, vol.289
, pp. 24020-24029
-
-
Phillips, M.C.1
-
187
-
-
34047250984
-
Role of ABCG1 and ABCA1 in regulation of neuronal cholesterol efflux to apolipoprotein e discs and suppression of amyloid-β peptide generation
-
Kim, W. S. et al. Role of ABCG1 and ABCA1 in regulation of neuronal cholesterol efflux to apolipoprotein E discs and suppression of amyloid-β peptide generation. J. Biol. Chem. 282, 2851-2861 (2007).
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 2851-2861
-
-
Kim, W.S.1
-
188
-
-
34248144337
-
The cholesterol transporter ABCG1 modulates the subcellular distribution and proteolytic processing of β-amyloid precursor protein
-
Tansley, G. H. et al. The cholesterol transporter ABCG1 modulates the subcellular distribution and proteolytic processing of β-amyloid precursor protein. J. Lipid Res. 48, 1022-1034 (2007).
-
(2007)
J. Lipid Res.
, vol.48
, pp. 1022-1034
-
-
Tansley, G.H.1
-
189
-
-
48549093827
-
ABCG1 influences the brain cholesterol biosynthetic pathway but does not affect amyloid precursor protein or apolipoprotein e metabolism in vivo
-
Burgess, B. L. et al. ABCG1 influences the brain cholesterol biosynthetic pathway but does not affect amyloid precursor protein or apolipoprotein E metabolism in vivo. J. Lipid Res. 49, 1254-1267 (2008).
-
(2008)
J. Lipid Res.
, vol.49
, pp. 1254-1267
-
-
Burgess, B.L.1
-
190
-
-
84897976299
-
Microglial priming in neurodegenerative disease
-
Perry, V. H. & Holmes, C. Microglial priming in neurodegenerative disease. Nat. Rev. Neurol. 10, 217-224 (2014).
-
(2014)
Nat. Rev. Neurol.
, vol.10
, pp. 217-224
-
-
Perry, V.H.1
Holmes, C.2
-
191
-
-
84880117155
-
Down's syndrome, neuroinflammation, and Alzheimer neuropathogenesis
-
Wilcock, D. M. & Griffin, W. S. T. Down's syndrome, neuroinflammation, and Alzheimer neuropathogenesis. J. Neuroinflammation 10, 84 (2013).
-
(2013)
J. Neuroinflammation
, vol.10
, pp. 84
-
-
Wilcock, D.M.1
Griffin, W.S.T.2
-
192
-
-
0001360461
-
Brain interleukin 1 and S-100 immunoreactivity are elevated in Down syndrome and Alzheimer disease
-
Griffin, W. S. T. et al. Brain interleukin 1 and S-100 immunoreactivity are elevated in Down syndrome and Alzheimer disease. Proc. Natl Acad. Sci. USA 86, 7611-7615 (1989).
-
(1989)
Proc. Natl Acad. Sci. USA
, vol.86
, pp. 7611-7615
-
-
Griffin, W.S.T.1
-
193
-
-
84925778446
-
Serum NGAL is associated with distinct plasma amyloid-β peptides according to the clinical diagnosis of dementia in Down syndrome
-
Naude, P. J. W. et al. Serum NGAL is associated with distinct plasma amyloid-β peptides according to the clinical diagnosis of dementia in Down syndrome. J. Alzheimers Dis. 45, 733-743 (2015).
-
(2015)
J. Alzheimers Dis.
, vol.45
, pp. 733-743
-
-
Naude, P.J.W.1
-
194
-
-
0028863201
-
Microglial cells and amyloid-β protein (A) deposition - Association with Aβ40-containing plaques
-
Mann, D. M. A. et al. Microglial cells and amyloid-β protein (A) deposition - association with Aβ40-containing plaques. Acta Neuropathol. 90, 472-477 (1995).
-
(1995)
Acta Neuropathol.
, vol.90
, pp. 472-477
-
-
Mann, D.M.A.1
-
195
-
-
80054679815
-
Microglial pathology in Down syndrome
-
Xue, Q. S. & Streit, W. J. Microglial pathology in Down syndrome. Acta Neuropathol. 122, 455-466 (2011).
-
(2011)
Acta Neuropathol.
, vol.122
, pp. 455-466
-
-
Xue, Q.S.1
Streit, W.J.2
-
196
-
-
0028173033
-
S100β protein expression in Alzheimer disease: Potential role in the pathogenesis of neuritic plaques
-
Sheng, J. G., Mrak, R. E. & Griffin, W. S. T. S100β protein expression in Alzheimer disease: potential role in the pathogenesis of neuritic plaques. J. Neurosci. Res. 39, 398-404 (1994).
-
(1994)
J. Neurosci. Res.
, vol.39
, pp. 398-404
-
-
Sheng, J.G.1
Mrak, R.E.2
Griffin, W.S.T.3
-
197
-
-
75849133906
-
Overexpression of human S100B exacerbates cerebral amyloidosis and gliosis in the Tg2576 mouse model of Alzheimer's disease
-
Mori, T. et al. Overexpression of human S100B exacerbates cerebral amyloidosis and gliosis in the Tg2576 mouse model of Alzheimer's disease. Glia 58, 300-314 (2010).
-
(2010)
Glia
, vol.58
, pp. 300-314
-
-
Mori, T.1
-
198
-
-
44149085664
-
S100B induces tau protein hyperphosphorylation via Dickopff-1 up-regulation and disrupts the Wnt pathway in human neural stem cells
-
Esposito, G. et al. S100B induces tau protein hyperphosphorylation via Dickopff-1 up-regulation and disrupts the Wnt pathway in human neural stem cells. J. Cell. Mol. Med. 12, 914-927 (2008).
-
(2008)
J. Cell. Mol. Med.
, vol.12
, pp. 914-927
-
-
Esposito, G.1
-
199
-
-
84904705701
-
Role of astroglia in Down's syndrome revealed by patient-derived human-induced pluripotent stem cells
-
Chen, C. et al. Role of astroglia in Down's syndrome revealed by patient-derived human-induced pluripotent stem cells. Nat. Commun. 5, 4430 (2014).
-
(2014)
Nat. Commun.
, vol.5
, pp. 4430
-
-
Chen, C.1
-
200
-
-
84884979769
-
Preclinical trials in autosomal dominant AD: Implementation of the DIAN-TU trial
-
Mills, S. M. et al. Preclinical trials in autosomal dominant AD: implementation of the DIAN-TU trial. Rev. Neurol. 169, 737-743 (2013).
-
(2013)
Rev. Neurol.
, vol.169
, pp. 737-743
-
-
Mills, S.M.1
-
201
-
-
0034604340
-
Alzheimer's disease: Neurodevelopment converges with neurodegeneration
-
Bothwell, M. & Giniger, E. Alzheimer's disease: neurodevelopment converges with neurodegeneration. Cell 102, 271-273 (2000).
-
(2000)
Cell
, vol.102
, pp. 271-273
-
-
Bothwell, M.1
Giniger, E.2
-
202
-
-
84896817308
-
Dysfunction of Wnt signaling and synaptic disassembly in neurodegenerative diseases
-
Purro, S. A., Galli, S. & Salinas, P. C. Dysfunction of Wnt signaling and synaptic disassembly in neurodegenerative diseases. J. Mol. Cell Biol. 6, 75-80 (2014).
-
(2014)
J. Mol. Cell Biol.
, vol.6
, pp. 75-80
-
-
Purro, S.A.1
Galli, S.2
Salinas, P.C.3
-
203
-
-
84870911586
-
Genetic and environmental vulnerabilities in children with neurodevelopmental disorders
-
Karmiloff-Smith, A. et al. Genetic and environmental vulnerabilities in children with neurodevelopmental disorders. Proc. Natl Acad. Sci. USA 109, 17261-17265 (2012).
-
(2012)
Proc. Natl Acad. Sci. USA
, vol.109
, pp. 17261-17265
-
-
Karmiloff-Smith, A.1
-
204
-
-
0029055738
-
Age-related learning-deficits in transgenic mice expressing the 751-amino acid isoform of human β-amyloid precursor protein
-
Moran, P. M., Higgins, L. S., Cordell, B. & Moser, P. C. Age-related learning-deficits in transgenic mice expressing the 751-amino acid isoform of human β-amyloid precursor protein. Proc. Natl Acad. Sci. USA 92, 5341-5345 (1995).
-
(1995)
Proc. Natl Acad. Sci. USA
, vol.92
, pp. 5341-5345
-
-
Moran, P.M.1
Higgins, L.S.2
Cordell, B.3
Moser, P.C.4
-
205
-
-
0026320841
-
Transgenic mice for the amyloid precursor protein 695 isoform have impaired spatial memory
-
Yamaguchi, F. et al. Transgenic mice for the amyloid precursor protein 695 isoform have impaired spatial memory. Neuroreport 2, 781-784 (1991).
-
(1991)
Neuroreport
, vol.2
, pp. 781-784
-
-
Yamaguchi, F.1
-
206
-
-
0034213718
-
1-42 in wild-type human amyloid protein precursor transgenic mice: Synaptotoxicity without plaque formation
-
1-42 in wild-type human amyloid protein precursor transgenic mice: synaptotoxicity without plaque formation. J. Neurosci. 20, 4050-4058 (2000).
-
(2000)
J. Neurosci.
, vol.20
, pp. 4050-4058
-
-
Mucke, L.1
-
207
-
-
80051545194
-
Transgenic mice: Their use and limitations
-
Balducci, C. & Forloni, G. A.P. P. Transgenic mice: their use and limitations. Neuromolecular Med. 13, 117-137 (2011).
-
(2011)
Neuromolecular Med.
, vol.13
, pp. 117-137
-
-
Balducci, C.1
Forloni, G.A.P.P.2
-
208
-
-
33746659123
-
Modeling chromosomes in mouse to explore the function of genes, genomic disorders, and chromosomal organization
-
Brault, V., Pereira, P., Duchon, A. & Herault, Y. Modeling chromosomes in mouse to explore the function of genes, genomic disorders, and chromosomal organization. PLoS Genet. 2, e86 (2006).
-
(2006)
PLoS Genet.
, vol.2
, pp. e86
-
-
Brault, V.1
Pereira, P.2
Duchon, A.3
Herault, Y.4
-
209
-
-
50549089957
-
Disease-specific induced pluripotent stem cells
-
Park, I. H. et al. Disease-specific induced pluripotent stem cells. Cell 134, 877-886 (2008).
-
(2008)
Cell
, vol.134
, pp. 877-886
-
-
Park, I.H.1
-
210
-
-
84868511774
-
Trisomy correction in Down syndrome induced pluripotent stem cells
-
Li, L. B. et al. Trisomy correction in Down syndrome induced pluripotent stem cells. Cell Stem Cell 11, 615-619 (2012).
-
(2012)
Cell Stem Cell
, vol.11
, pp. 615-619
-
-
Li, L.B.1
-
211
-
-
84881668417
-
Translating dosage compensation to trisomy 21
-
Jiang, J. et al. Translating dosage compensation to trisomy 21. Nature 500, 296-300 (2013).
-
(2013)
Nature
, vol.500
, pp. 296-300
-
-
Jiang, J.1
-
212
-
-
84924188794
-
N-butylidenephthalide attenuates Alzheimer's disease-like cytopathy in Down syndrome induced pluripotent stem cell-derived neurons
-
Chang, C. Y. et al. N-butylidenephthalide attenuates Alzheimer's disease-like cytopathy in Down syndrome induced pluripotent stem cell-derived neurons. Sci. Rep. 5, 8744 (2015).
-
(2015)
Sci. Rep.
, vol.5
, Issue.8744
-
-
Chang, C.Y.1
|