-
1
-
-
2542507386
-
A study of the distributional characteristics of FMR1 transcript levels in 238 individuals
-
Allen, E. G. et al. 2004. A study of the distributional characteristics of FMR1 transcript levels in 238 individuals. Hum Genet 114:439-447.
-
(2004)
Hum Genet
, vol.114
, pp. 439-447
-
-
Allen, E.G.1
-
2
-
-
32244440359
-
Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: Newly described fronto-subcortical dementia
-
Bacalman, S. et al. 2006. Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia. J Clin Psychiatry 67:87.94.
-
(2006)
J Clin Psychiatry
, vol.67
, pp. 8794
-
-
Bacalman, S.1
-
3
-
-
33747166728
-
The DNA repair-ubiquitin-associated HR23 proteins are constituents of neuronal inclusions in specific neurodegenerative disorders without hampering DNA repair
-
Bergink, S. et al. 2006. The DNA repair-ubiquitin-associated HR23 proteins are constituents of neuronal inclusions in specific neurodegenerative disorders without hampering DNA repair. Neurobiol Dis 23:708.716.
-
(2006)
Neurobiol Dis
, vol.23
, pp. 708716
-
-
Bergink, S.1
-
4
-
-
29444455075
-
Drosophila as a model for human neurodegenerative disease
-
Bilen, J., Bonini, N. M. 2005. Drosophila as a model for human neurodegenerative disease. Annu Rev Genet 39:153.171.
-
(2005)
Annu Rev Genet
, vol.39
, pp. 153171
-
-
Bilen, J.1
Bonini, N.M.2
-
5
-
-
0030733023
-
FMR1 premutation allele is stable in mice
-
Bontekoe, C. J. M. et al. 1997. FMR1 premutation allele is stable in mice. Eur J Hum Genet 5:293.298.
-
(1997)
Eur J Hum Genet
, vol.5
, pp. 293298
-
-
Bontekoe, C.J.M.1
-
6
-
-
0035423079
-
Instability of a (CGG) (98) repeat in the Fmr1 promoter
-
Bontekoe, C. J. et al. 2001. Instability of a (CGG) (98) repeat in the Fmr1 promoter. Hum Mol Genet 10:1693.1699.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 16931699
-
-
Bontekoe, C.J.1
-
7
-
-
34250750659
-
Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome
-
Bourgeois, J. A. et al. 2007. Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome. Gen Hosp Psychiatry 29:349.356.
-
(2007)
Gen Hosp Psychiatry
, vol.29
, pp. 349356
-
-
Bourgeois, J.A.1
-
8
-
-
33846002696
-
Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated fragile X full mutation
-
Brouwer, J. R. et al. 2007. Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated fragile X full mutation. Exp Cell Res 313:244.253.
-
(2007)
Exp Cell Res
, vol.313
, pp. 244253
-
-
Brouwer, J.R.1
-
9
-
-
46249101217
-
Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome
-
Brouwer, J. R. et al. 2008a. Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome. Psychoneuroendocrinology 33:863.873.
-
(2008)
Psychoneuroendocrinology
, vol.33
, pp. 863873
-
-
Brouwer, J.R.1
-
10
-
-
56749165180
-
CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome
-
Brouwer, J. R. et al. 2008b. CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. J Neurochem 107:1671.1682.
-
(2008)
J Neurochem
, vol.107
, pp. 16711682
-
-
Brouwer, J.R.1
-
11
-
-
0036850456
-
Genetic modulation of polyglutamine toxicity by protein conjugation pathways in drosophila
-
Chan, H. Y. et al. 2002. Genetic modulation of polyglutamine toxicity by protein conjugation pathways in drosophila. Hum Mol Genet 11:2895.2904.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 28952904
-
-
Chan, H.Y.1
-
12
-
-
77649301567
-
Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration
-
Jan 1
-
Chen, Y., Tassone, F., Berman, R. F., Hagerman, P. J., Hagerman, R. J., Willemsen, R., Pessah, I. N. 2010 Jan 1. Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration. Hum Mol Genet 19(1):196.208.
-
(2010)
Hum Mol Genet
, vol.19
, Issue.1
, pp. 196208
-
-
Chen, Y.1
Tassone, F.2
Berman, R.F.3
Hagerman, P.J.4
Hagerman, R.J.5
Willemsen, R.6
Pessah, I.N.7
-
13
-
-
44249106115
-
Age-dependent cognitive changes in carriers of the fragile X syndrome
-
Cornish, K. M. et al. 2008. Age-dependent cognitive changes in carriers of the fragile X syndrome. Cortex 44:628.636.
-
(2008)
Cortex
, vol.44
, pp. 628636
-
-
Cornish, K.M.1
-
14
-
-
0035394668
-
Over-expression of inducible Hsp70 chaperone suppresses neuropathology and improves motor function in SCA1 mice
-
Cummings, C. J. et al. 2001. Over-expression of inducible Hsp70 chaperone suppresses neuropathology and improves motor function in SCA1 mice. Hum Mol Genet 10:1511.1518.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 15111518
-
-
Cummings, C.J.1
-
15
-
-
34447559636
-
Interfering with disease: A progress report on siRNA-based therapeutics
-
De Fougerolles, A. et al. 2007. Interfering with disease: a progress report on siRNA-based therapeutics. Nat Rev Drug Discov 6:443.453.
-
(2007)
Nat Rev Drug Discov
, vol.6
, pp. 443453
-
-
De Fougerolles, A.1
-
16
-
-
34247637636
-
Regional FMRP deficits and large repeat expansions into the full mutation range in a new fragile X premutation mouse model
-
Entezam, A. et al. 2007. Regional FMRP deficits and large repeat expansions into the full mutation range in a new fragile X premutation mouse model. Gene 395:125.134.
-
(2007)
Gene
, vol.395
, pp. 125134
-
-
Entezam, A.1
-
17
-
-
39549086548
-
ATR protects the genome against CGG. CGG-repeat expansion in fragile X premutation mice
-
Entezam, A., Usdin, K. 2007. ATR protects the genome against CGG. CGG-repeat expansion in fragile X premutation mice. Nucleic Acids Res 36:1050.1056.
-
(2007)
Nucleic Acids Res
, vol.36
, pp. 10501056
-
-
Entezam, A.1
Usdin, K.2
-
18
-
-
0034597833
-
Identification of genes that modify ataxin-1-induced neurodegeneration
-
Fernandez-Funez, P. et al. 2000. Identification of genes that modify ataxin-1-induced neurodegeneration. Nature 408:101.106.
-
(2000)
Nature
, vol.408
, pp. 101106
-
-
Fernandez-Funez, P.1
-
19
-
-
0036345801
-
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
-
Greco, C. M. et al. 2002. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 125:1760.1771.
-
(2002)
Brain
, vol.125
, pp. 17601771
-
-
Greco, C.M.1
-
20
-
-
30344473617
-
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Greco, C. M. et al. 2006. Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain 129:243.255.
-
(2006)
Brain
, vol.129
, pp. 243255
-
-
Greco, C.M.1
-
21
-
-
33947268037
-
Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome
-
Greco, C. M. et al. 2007. Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome. J Urol 177:1434.1437.
-
(2007)
J Urol
, vol.177
, pp. 14341437
-
-
Greco, C.M.1
-
22
-
-
39049106972
-
Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome
-
Grigsby, J. et al. 2008. Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome. Neuropsychology 22:48.60.
-
(2008)
Neuropsychology
, vol.22
, pp. 4860
-
-
Grigsby, J.1
-
23
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
-
Hagerman, R. J. et al. 2001. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57:127.130.
-
(2001)
Neurology
, vol.57
, pp. 127130
-
-
Hagerman, R.J.1
-
25
-
-
0344442391
-
The fragile X syndrome repeats form RNA hairpins that do not activate the interferon-inducible protein kinase, PKR, but are cut by dicer
-
Handa, V. et al. 2003. The fragile X syndrome repeats form RNA hairpins that do not activate the interferon-inducible protein kinase, PKR, but are cut by dicer. Nucleic Acids Res 31:6243.6248.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 62436248
-
-
Handa, V.1
-
26
-
-
27644483475
-
Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation
-
Hessl, D. et al. 2005. Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. Am J Med Genet B Neuropsychiatr Genet 139B:115-121.
-
(2005)
Am J Med Genet B Neuropsychiatr Genet
, vol.139 B
, pp. 115-121
-
-
Hessl, D.1
-
27
-
-
33846648486
-
Amygdala dysfunction in men with the fragile X premutation
-
Hessl, D. et al. 2006. Amygdala dysfunction in men with the fragile X premutation. Brain 130(2):404-416.
-
(2006)
Brain
, vol.130
, Issue.2
, pp. 404-416
-
-
Hessl, D.1
-
28
-
-
52549133808
-
Investigation of phenotypes associated with mood and anxiety among male and female fragile X premutation carriers
-
Hunter, J. E. et al. 2008. Investigation of phenotypes associated with mood and anxiety among male and female fragile X premutation carriers. Behav Genet 38(5):493-502.
-
(2008)
Behav Genet
, vol.38
, Issue.5
, pp. 493-502
-
-
Hunter, J.E.1
-
29
-
-
30344441794
-
Protein composition of the intranuclear inclusions of FXTAS
-
Iwahashi, C. et al. 2006. Protein composition of the intranuclear inclusions of FXTAS. Brain 129:256-271.
-
(2006)
Brain
, vol.129
, pp. 256-271
-
-
Iwahashi, C.1
-
30
-
-
0034695575
-
DNA polymerase III proofreading mutants enhance the expansion and deletion of triplet repeat sequences in Escherichia coli
-
Iyer, R. R. et al. 2000. DNA polymerase III proofreading mutants enhance the expansion and deletion of triplet repeat sequences in Escherichia coli. J Biol Chem 275:2174-2184.
-
(2000)
J Biol Chem
, vol.275
, pp. 2174-2184
-
-
Iyer, R.R.1
-
31
-
-
12144289389
-
Aging in individuals with the FMR1 mutation
-
Jacquemont, S. et al. 2004. Aging in individuals with the FMR1 mutation. Am J Ment Retard 109:154-164.
-
(2004)
Am J Ment Retard
, vol.109
, pp. 154-164
-
-
Jacquemont, S.1
-
32
-
-
0033551777
-
Genetic instabilities in (CTG. CAG) repeats occur by recombination
-
Jakupciak, J. P., Wells, R. D. 1999. Genetic instabilities in (CTG. CAG) repeats occur by recombination. J Biol Chem 274:23468-23479.
-
(1999)
J Biol Chem
, vol.274
, pp. 23468-23479
-
-
Jakupciak, J.P.1
Wells, R.D.2
-
33
-
-
0041880131
-
RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in drosophila
-
Jin, P. et al. 2003. RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in drosophila. Neuron 39:739-747.
-
(2003)
Neuron
, vol.39
, pp. 739-747
-
-
Jin, P.1
-
34
-
-
34547681603
-
Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a drosophila model of fragile X tremor/ataxia syndrome
-
Jin, P. et al. 2007. Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a drosophila model of fragile X tremor/ataxia syndrome. Neuron 55:556-564.
-
(2007)
Neuron
, vol.55
, pp. 556-564
-
-
Jin, P.1
-
35
-
-
0037333288
-
New insights into fragile X syndrome: From molecules to neurobehaviors
-
Jin, P., Warren, S. T. 2003. New insights into fragile X syndrome: from molecules to neurobehaviors. Trends Biochem Sci 28:152-158.
-
(2003)
Trends Biochem Sci
, vol.28
, pp. 152-158
-
-
Jin, P.1
Warren, S.T.2
-
36
-
-
0034629073
-
Genetic suppression of polyglutamine toxicity in drosophila
-
Kazemi-Esfarjani, P., Benzer, S. 2000. Genetic suppression of polyglutamine toxicity in drosophila. Science 287:1837-1840.
-
(2000)
Science
, vol.287
, pp. 1837-1840
-
-
Kazemi-Esfarjani, P.1
Benzer, S.2
-
37
-
-
0035394437
-
Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers
-
Kenneson, A. et al. 2001. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum Mol Genet 10:1449-1454.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1449-1454
-
-
Kenneson, A.1
-
38
-
-
0141557777
-
Pur alpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse
-
Khalili, K. et al. 2003. Pur alpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse. Mol Cell Biol 23:6857-6875.
-
(2003)
Mol Cell Biol
, vol.23
, pp. 6857-6875
-
-
Khalili, K.1
-
39
-
-
33847077134
-
Ribonuclease dicer cleaves triplet repeat hairpins into shorter repeats that silence specific targets
-
Krol, J. et al. 2007. Ribonuclease dicer cleaves triplet repeat hairpins into shorter repeats that silence specific targets. Mol Cell 25:575-586.
-
(2007)
Mol Cell
, vol.25
, pp. 575-586
-
-
Krol, J.1
-
40
-
-
36248967098
-
An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals
-
Ladd, P. D. et al. 2007. An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals. Hum Mol Genet 16:3174-3187.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 3174-3187
-
-
Ladd, P.D.1
-
41
-
-
0030931869
-
Trinucleotide repeats (CGG) 22TGG (CGG) 43TGG (CGG) 21 from the fragile X gene remain stable in transgenic mice
-
Lavedan, C. N. et al. 1997. Trinucleotide repeats (CGG) 22TGG (CGG) 43TGG (CGG) 21 from the fragile X gene remain stable in transgenic mice. Hum Genet 100:407-414.
-
(1997)
Hum Genet
, vol.100
, pp. 407-414
-
-
Lavedan, C.N.1
-
42
-
-
0032104278
-
Long uninterrupted CGG repeats within the first exon of the human FMR1 gene are not intrinsically unstable in transgenic mice
-
Lavedan, C. et al. 1998. Long uninterrupted CGG repeats within the first exon of the human FMR1 gene are not intrinsically unstable in transgenic mice. Genomics 50:229-240.
-
(1998)
Genomics
, vol.50
, pp. 229-240
-
-
Lavedan, C.1
-
43
-
-
46249116571
-
Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: A clinical-pathological study
-
Louis, E. et al. 2006. Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: a clinical-pathological study. Mov Disord 27:193-201.
-
(2006)
Mov Disord
, vol.27
, pp. 193-201
-
-
Louis, E.1
-
44
-
-
0036417439
-
Instability of a premutation-sized CGG repeat in FMR1 YAC transgenic mice
-
Peier, A., Nelson, D. 2002. Instability of a premutation-sized CGG repeat in FMR1 YAC transgenic mice. Genomics 80:423-432.
-
(2002)
Genomics
, vol.80
, pp. 423-432
-
-
Peier, A.1
Nelson, D.2
-
45
-
-
0036918690
-
Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations
-
Primerano, B. et al. 2002. Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. RNA 8:1-7.
-
(2002)
RNA
, vol.8
, pp. 1-7
-
-
Primerano, B.1
-
46
-
-
34548724996
-
Argonaute-2 dependent rescue of a drosophila model of FXTAS by FRAXE premutation repeat
-
Sofola, O. A. et al. 2007a. Argonaute-2 dependent rescue of a drosophila model of FXTAS by FRAXE premutation repeat. Hum Mol Genet 16:2326-2332.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 2326-2332
-
-
Sofola, O.A.1
-
47
-
-
34547697173
-
RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a drosophila model of FXTAS
-
Sofola, O. A. et al. 2007b. RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a drosophila model of FXTAS. Neuron 55:565-571.
-
(2007)
Neuron
, vol.55
, pp. 565-571
-
-
Sofola, O.A.1
-
48
-
-
0033940157
-
Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the Fragile-X syndrome
-
Tassone, F. et al. 2000. Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the Fragile-X syndrome. Am J Hum Genet 66:6-15.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 6-15
-
-
Tassone, F.1
-
49
-
-
2342578152
-
Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome
-
Tassone, F. et al. 2004. Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome. J Med Genet 41:E43.
-
(2004)
J Med Genet
, vol.41
, pp. E43
-
-
Tassone, F.1
-
50
-
-
20444447397
-
Cognitive decline, neuromotor and behavioural disturbances in a mouse model for Fragile-X-associated tremor/ataxia syndrome (FXTAS)
-
Van Dam, D. et al. 2005. Cognitive decline, neuromotor and behavioural disturbances in a mouse model for Fragile-X-associated tremor/ataxia syndrome (FXTAS). Behav Brain Res 162:233-239.
-
(2005)
Behav Brain Res
, vol.162
, pp. 233-239
-
-
Van Dam, D.1
-
51
-
-
18544392423
-
Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in drosophila
-
Warrick, J. M. et al. 1998. Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in drosophila. Cell 93:939-949.
-
(1998)
Cell
, vol.93
, pp. 939-949
-
-
Warrick, J.M.1
-
52
-
-
0032771002
-
Stability of the human fragile X (CGG) (n) triplet repeat array in saccharomyces cerevisiae deficient in aspects of DNA metabolism
-
White, P. J. et al. 1999. Stability of the human fragile X (CGG) (n) triplet repeat array in saccharomyces cerevisiae deficient in aspects of DNA metabolism. Mol Cell Biol 19:5675-5684.
-
(1999)
Mol Cell Biol
, vol.19
, pp. 5675-5684
-
-
White, P.J.1
-
53
-
-
0038025990
-
The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome
-
Willemsen, R. et al. 2003. The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. Hum Mol Genet 12:949-959.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 949-959
-
-
Willemsen, R.1
|