-
1
-
-
2542507386
-
A study of the distributional characteristics of FMR1 transcript levels in 238 individuals
-
Allen E. G., He W., Yadav-Shah M. Sherman S. L. (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
He, W.2
Yadav-Shah, M.3
Sherman, S.L.4
-
2
-
-
28744442194
-
Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells
-
Arocena D. G., Iwahashi C. K., Won N., Beilina A., Ludwig A. L., Tassone F., Schwartz P. H. Hagerman P. J. (2005) Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells. Hum. Mol. Genet. 14, 3661 3671.
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 3661-3671
-
-
Arocena, D.G.1
Iwahashi, C.K.2
Won, N.3
Beilina, A.4
Ludwig, A.L.5
Tassone, F.6
Schwartz, P.H.7
Hagerman, P.J.8
-
3
-
-
0342757873
-
Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse
-
Bakker C. E., de Diego Otero Y., Bontekoe C., Raghoe P., Luteijn T., Hoogeveen A. T., Oostra B. A. Willemsen R. (2000) Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse. Exp. Cell Res. 258, 162 170.
-
(2000)
Exp. Cell Res.
, vol.258
, pp. 162-170
-
-
Bakker, C.E.1
De Diego Otero, Y.2
Bontekoe, C.3
Raghoe, P.4
Luteijn, T.5
Hoogeveen, A.T.6
Oostra, B.A.7
Willemsen, R.8
-
4
-
-
1542359463
-
Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element
-
Beilina A., Tassone F., Schwartz P. H., Sahota P. Hagerman P. J. (2004) Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element. Hum. Mol. Genet. 13, 543 549.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 543-549
-
-
Beilina, A.1
Tassone, F.2
Schwartz, P.H.3
Sahota, P.4
Hagerman, P.J.5
-
5
-
-
11144233958
-
Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation
-
Berry-Kravis E., Potanos K., Weinberg D., Zhou L. Goetz C. G. (2004) Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation. Ann. Neurol. 57, 144 147.
-
(2004)
Ann. Neurol.
, vol.57
, pp. 144-147
-
-
Berry-Kravis, E.1
Potanos, K.2
Weinberg, D.3
Zhou, L.4
Goetz, C.G.5
-
7
-
-
36749009300
-
Fragile X-associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines
-
Berry-Kravis E., Abrams L., Coffey S. M. et al. (2007b) Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov. Disord. 14, 2014 2030.
-
(2007)
Mov. Disord.
, vol.14
, pp. 2014-2030
-
-
Berry-Kravis, E.1
Abrams, L.2
Coffey, S.M.3
-
8
-
-
0035423079
-
Instability of a (CGG)(98) repeat in the Fmr1 promoter
-
Bontekoe C. J., Bakker C. E., Nieuwenhuizen I. M., van Der Linde H., Lans H., de Lange D., Hirst M. C. Oostra B. A. (2001) Instability of a (CGG)(98) repeat in the Fmr1 promoter. Hum. Mol. Genet. 10, 1693 1699.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1693-1699
-
-
Bontekoe, C.J.1
Bakker, C.E.2
Nieuwenhuizen, I.M.3
Van Der Linde, H.4
Lans, H.5
De Lange, D.6
Hirst, M.C.7
Oostra, B.A.8
-
9
-
-
33846002696
-
Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated fragile X full mutation
-
Brouwer J. R., Mientjes E. J., Bakker C. E., Nieuwenhuizen I. M., Severijnen L. A., Van der Linde H. C., Nelson D. L., Oostra B. A. Willemsen R. (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. 244-253
-
-
Brouwer, J.R.1
Mientjes, E.J.2
Bakker, C.E.3
Nieuwenhuizen, I.M.4
Severijnen, L.A.5
Van Der Linde, H.C.6
Nelson, D.L.7
Oostra, B.A.8
Willemsen, R.9
-
10
-
-
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., Severijnen E., de Jong F. H., Hessl D., Hagerman R. J., Oostra B. A. Willemsen R. (2008) 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. 863-873
-
-
Brouwer, J.R.1
Severijnen, E.2
De Jong, F.H.3
Hessl, D.4
Hagerman, R.J.5
Oostra, B.A.6
Willemsen, R.7
-
11
-
-
0344668735
-
The (CGG)n repeat element within the 5′untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter
-
Chen L. S., Tassone F., Sahota P. Hagerman P. J. (2003) The (CGG)n repeat element within the 5′untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter. Hum. Mol. Genet. 12, 3067 3074.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 3067-3074
-
-
Chen, L.S.1
Tassone, F.2
Sahota, P.3
Hagerman, P.J.4
-
12
-
-
34247637636
-
Regional FMRP deficits and large repeat expansions into the full mutation range in a new fragile X premutation mouse model
-
Entezam A., Biacsi R., Orrison B., Saha T., Hoffman G. E., Grabczyk E., Nussbaum R. L. Usdin K. (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. 125-134
-
-
Entezam, A.1
Biacsi, R.2
Orrison, B.3
Saha, T.4
Hoffman, G.E.5
Grabczyk, E.6
Nussbaum, R.L.7
Usdin, K.8
-
13
-
-
0035394801
-
In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts
-
Fardaei M., Larkin K., Brook J. D. Hamshere M. G. (2001) In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts. Nucleic Acids Res. 29, 2766 2771.
-
(2001)
Nucleic Acids Res.
, vol.29
, pp. 2766-2771
-
-
Fardaei, M.1
Larkin, K.2
Brook, J.D.3
Hamshere, M.G.4
-
14
-
-
0028989063
-
Translational suppression by trinucleotide repeat expansion at FMR1
-
Feng Y., Zhang F. P., Lokey L. K., Chastain J. L., Lakkis L., Eberhart D. Warren S. T. (1995) Translational suppression by trinucleotide repeat expansion at FMR1. Science 268, 731 734.
-
(1995)
Science
, vol.268
, pp. 731-734
-
-
Feng, Y.1
Zhang, F.P.2
Lokey, L.K.3
Chastain, J.L.4
Lakkis, L.5
Eberhart, D.6
Warren, S.T.7
-
15
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
-
Fu Y. H., Kuhl D. P., Pizzuti A. et al. (1991) Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67, 1047 1058.
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.H.1
Kuhl, D.P.2
Pizzuti, A.3
-
16
-
-
9344246891
-
Visual experience regulates transient expression and dendritic localization of fragile X mental retardation protein
-
Gabel L. A., Won S., Kawai H., McKinney M., Tartakoff A. M. Fallon J. R. (2004) Visual experience regulates transient expression and dendritic localization of fragile X mental retardation protein. J. Neurosci. 24, 10579 10583.
-
(2004)
J. Neurosci.
, vol.24
, pp. 10579-10583
-
-
Gabel, L.A.1
Won, S.2
Kawai, H.3
McKinney, M.4
Tartakoff, A.M.5
Fallon, J.R.6
-
17
-
-
42149156593
-
DNA instability in postmitotic neurons
-
Gonitel R., Moffitt H., Sathasivam K., Woodman B., Detloff P. J., Faull R. L. Bates G. P. (2008) DNA instability in postmitotic neurons. Proc. Natl Acad. Sci. USA 105, 3467 3472.
-
(2008)
Proc. Natl Acad. Sci. USA
, vol.105
, pp. 3467-3472
-
-
Gonitel, R.1
Moffitt, H.2
Sathasivam, K.3
Woodman, B.4
Detloff, P.J.5
Faull, R.L.6
Bates, G.P.7
-
18
-
-
0031038809
-
Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice
-
Gourdon G., Radvanyi F., Lia A. S., Duros C., Blanche M., Abitbol M., Junien C. Hofmann-Radvanyi H. (1997) Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice. Nature Genet. 15, 190 192.
-
(1997)
Nature Genet.
, vol.15
, pp. 190-192
-
-
Gourdon, G.1
Radvanyi, F.2
Lia, A.S.3
Duros, C.4
Blanche, M.5
Abitbol, M.6
Junien, C.7
Hofmann-Radvanyi, H.8
-
19
-
-
0036345801
-
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
-
Greco C. M., Hagerman R. J., Tassone F., Chudley A. E., Del Bigio M. R., Jacquemont S., Leehey M. Hagerman P. J. (2002) Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 125, 1760 1771.
-
(2002)
Brain
, vol.125
, pp. 1760-1771
-
-
Greco, C.M.1
Hagerman, R.J.2
Tassone, F.3
Chudley, A.E.4
Del Bigio, M.R.5
Jacquemont, S.6
Leehey, M.7
Hagerman, P.J.8
-
20
-
-
30344473617
-
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Greco C. M., Berman R. F., Martin R. M. et al. (2006) Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain 129, 243 255.
-
(2006)
Brain
, vol.129
, pp. 243-255
-
-
Greco, C.M.1
Berman, R.F.2
Martin, R.M.3
-
21
-
-
33750343705
-
Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Grigsby J., Brega A. G., Jacquemont S. et al. (2006) Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS). J. Neurol. Sci. 248, 227 233.
-
(2006)
J. Neurol. Sci.
, vol.248
, pp. 227-233
-
-
Grigsby, J.1
Brega, A.G.2
Jacquemont, S.3
-
22
-
-
0036591683
-
The fragile X premutation: Into the phenotypic fold
-
Hagerman R. J. Hagerman P. J. (2002) The fragile X premutation: into the phenotypic fold. Curr. Opin. Genet. Dev. 12, 278 283.
-
(2002)
Curr. Opin. Genet. Dev.
, vol.12
, pp. 278-283
-
-
Hagerman, R.J.1
Hagerman, P.J.2
-
23
-
-
2342635196
-
The fragile-X premutation: A maturing perspective
-
Hagerman P. J. Hagerman R. J. (2004) The fragile-X premutation: a maturing perspective. Am. J. Hum. Genet. 74, 805 816.
-
(2004)
Am. J. Hum. Genet.
, vol.74
, pp. 805-816
-
-
Hagerman, P.J.1
Hagerman, R.J.2
-
24
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
-
Hagerman R. J., Leehey M., Heinrichs W., Tassone F., Wilson R., Hills J., Grigsby J., Gage B. Hagerman P. J. (2001) Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57, 127 130.
-
(2001)
Neurology
, vol.57
, pp. 127-130
-
-
Hagerman, R.J.1
Leehey, M.2
Heinrichs, W.3
Tassone, F.4
Wilson, R.5
Hills, J.6
Grigsby, J.7
Gage, B.8
Hagerman, P.J.9
-
25
-
-
2342453253
-
Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation
-
Hagerman R. J., Leavitt B. R., Farzin F. et al. (2004) Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am. J. Hum. Genet. 74, 1051 1056.
-
(2004)
Am. J. Hum. Genet.
, vol.74
, pp. 1051-1056
-
-
Hagerman, R.J.1
Leavitt, B.R.2
Farzin, F.3
-
26
-
-
30344441794
-
Protein composition of the intranuclear inclusions of FXTAS
-
Iwahashi C. K., Yasui D. H., An H. J. et al. (2006) Protein composition of the intranuclear inclusions of FXTAS. Brain 129, 256 271.
-
(2006)
Brain
, vol.129
, pp. 256-271
-
-
Iwahashi, C.K.1
Yasui, D.H.2
An, H.J.3
-
27
-
-
0037384643
-
Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates
-
Jacquemont S., Hagerman R. J., Leehey M. et al. (2003) Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am. J. Hum. Genet. 72, 869 878.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 869-878
-
-
Jacquemont, S.1
Hagerman, R.J.2
Leehey, M.3
-
28
-
-
9144252520
-
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population
-
Jacquemont S., Hagerman R. J., Leehey M. A. et al. (2004) Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA 291, 460 469.
-
(2004)
JAMA
, vol.291
, pp. 460-469
-
-
Jacquemont, S.1
Hagerman, R.J.2
Leehey, M.A.3
-
29
-
-
33749010659
-
Size bias of fragile X premutation alleles in late-onset movement disorders
-
Jacquemont S., Leehey M. A., Hagerman R. J., Beckett L. A. Hagerman P. J. (2006) Size bias of fragile X premutation alleles in late-onset movement disorders. J. Med. Genet. 43, 804 809.
-
(2006)
J. Med. Genet.
, vol.43
, pp. 804-809
-
-
Jacquemont, S.1
Leehey, M.A.2
Hagerman, R.J.3
Beckett, L.A.4
Hagerman, P.J.5
-
30
-
-
23444442557
-
The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: Data from the EMSA Study Group
-
Kamm C., Healy D. G., Quinn N. P. et al. (2005) The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group. Brain 128, 1855 1860.
-
(2005)
Brain
, vol.128
, pp. 1855-1860
-
-
Kamm, C.1
Healy, D.G.2
Quinn, N.P.3
-
31
-
-
0035394437
-
Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers
-
Kenneson A., Zhang F., Hagedorn C. H. Warren S. T. (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
Zhang, F.2
Hagedorn, C.H.3
Warren, S.T.4
-
32
-
-
42049113610
-
FMR1 CGG repeat length predicts motor dysfunction in premutation carriers
-
Leehey M. A., Berry-Kravis E., Goetz C. G. et al. (2008) FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. Neurology 70, 1397 1402.
-
(2008)
Neurology
, vol.70
, pp. 1397-1402
-
-
Leehey, M.A.1
Berry-Kravis, E.2
Goetz, C.G.3
-
33
-
-
23244441878
-
Magnetic resonance imaging study in older fragile X premutation male carriers
-
Loesch D. Z., Litewka L., Brotchie P., Huggins R. M., Tassone F. Cook M. (2005) Magnetic resonance imaging study in older fragile X premutation male carriers. Ann. Neurol. 58, 326 330.
-
(2005)
Ann. Neurol.
, vol.58
, pp. 326-330
-
-
Loesch, D.Z.1
Litewka, L.2
Brotchie, P.3
Huggins, R.M.4
Tassone, F.5
Cook, M.6
-
34
-
-
0038281167
-
Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia
-
Macpherson J., Waghorn A., Hammans S. Jacobs P. (2003) Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia. Hum. Genet. 112, 619 620.
-
(2003)
Hum. Genet.
, vol.112
, pp. 619-620
-
-
MacPherson, J.1
Waghorn, A.2
Hammans, S.3
Jacobs, P.4
-
35
-
-
0034282958
-
Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy
-
Miller J. W., Urbinati C. R., Teng-Umnuay P., Stenberg M. G., Byrne B. J., Thornton C. A. Swanson M. S. (2000) Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J. 19, 4439 4448.
-
(2000)
EMBO J.
, vol.19
, pp. 4439-4448
-
-
Miller, J.W.1
Urbinati, C.R.2
Teng-Umnuay, P.3
Stenberg, M.G.4
Byrne, B.J.5
Thornton, C.A.6
Swanson, M.S.7
-
36
-
-
33751525712
-
Audiogenic seizure susceptibility is reduced in fragile X knockout mice after introduction of FMR1 transgenes
-
Musumeci S. A., Calabrese G., Bonaccorso C. M. et al. (2007) Audiogenic seizure susceptibility is reduced in fragile X knockout mice after introduction of FMR1 transgenes. Exp. Neurol. 203, 233 240.
-
(2007)
Exp. Neurol.
, vol.203
, pp. 233-240
-
-
Musumeci, S.A.1
Calabrese, G.2
Bonaccorso, C.M.3
-
37
-
-
19244362362
-
Familial transmission of the FMR1 CGG repeat
-
Nolin S. L., Lewis F. A., Ye L. L. et al. (1996) Familial transmission of the FMR1 CGG repeat. Am. J. Hum. Genet. 59, 1252 1261.
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 1252-1261
-
-
Nolin, S.L.1
Lewis, F.A.2
Ye, L.L.3
-
38
-
-
0026339303
-
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
-
Oberlé I., Rousseau F., Heitz D., Kretz C., Devys D., Hanauer A., Boue J., Bertheas M. F. Mandel J. L. (1991) Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252, 1097 1102.
-
(1991)
Science
, vol.252
, pp. 1097-1102
-
-
Oberlé, I.1
Rousseau, F.2
Heitz, D.3
Kretz, C.4
Devys, D.5
Hanauer, A.6
Boue, J.7
Bertheas, M.F.8
Mandel, J.L.9
-
39
-
-
0141994818
-
A fragile balance: FMR1 expression levels
-
Oostra B. A. Willemsen R. (2003) A fragile balance: FMR1 expression levels. Hum. Mol. Genet. 12 (Suppl. 2 R249 R257.
-
(2003)
Hum. Mol. Genet.
, vol.12
, Issue.2
-
-
Oostra, B.A.1
Willemsen, R.2
-
40
-
-
0034194228
-
(Over)correction of FMR1 deficiency with YAC transgenics: Behavioral and physical features
-
Peier A. M., McIlwain K. L., Kenneson A., Warren S. T., Paylor R. Nelson D. L. (2000) (Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features. Hum. Mol. Genet. 9, 1145 1159.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1145-1159
-
-
Peier, A.M.1
McIlwain, K.L.2
Kenneson, A.3
Warren, S.T.4
Paylor, R.5
Nelson, D.L.6
-
41
-
-
0025833298
-
Absence of expression of the FMR-1 gene in fragile X syndrome
-
Pieretti M., Zhang F. P., Fu Y. H., Warren S. T., Oostra B. A., Caskey C. T. Nelson D. L. (1991) Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66, 817 822.
-
(1991)
Cell
, vol.66
, pp. 817-822
-
-
Pieretti, M.1
Zhang, F.P.2
Fu, Y.H.3
Warren, S.T.4
Oostra, B.A.5
Caskey, C.T.6
Nelson, D.L.7
-
42
-
-
0036918690
-
Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations
-
Primerano B., Tassone F., Hagerman R. J., Hagerman P., Amaldi F. Bagni C. (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
Tassone, F.2
Hagerman, R.J.3
Hagerman, P.4
Amaldi, F.5
Bagni, C.6
-
43
-
-
4444299702
-
Pathogenic RNA repeats: An expanding role in genetic disease
-
Ranum L. P. Day J. W. (2004) Pathogenic RNA repeats: an expanding role in genetic disease. Trends Genet. 20, 506 512.
-
(2004)
Trends Genet.
, vol.20
, pp. 506-512
-
-
Ranum, L.P.1
Day, J.W.2
-
44
-
-
0034522229
-
Premature ovarian failure in the fragile X syndrome
-
Sherman S. L. (2000) Premature ovarian failure in the fragile X syndrome. Am. J. Med. Genet. 97, 189 194.
-
(2000)
Am. J. Med. Genet.
, vol.97
, pp. 189-194
-
-
Sherman, S.L.1
-
45
-
-
33745588863
-
Exaggerated behavioral phenotypes in Fmr1/Fxr2 double knockout mice reveal a functional genetic interaction between fragile X-related proteins
-
Spencer C. M., Serysheva E., Yuva-Paylor L. A., Oostra B. A., Nelson D. L. Paylor R. (2006) Exaggerated behavioral phenotypes in Fmr1/Fxr2 double knockout mice reveal a functional genetic interaction between fragile X-related proteins. Hum. Mol. Genet. 15, 1884 1894.
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 1884-1894
-
-
Spencer, C.M.1
Serysheva, E.2
Yuva-Paylor, L.A.3
Oostra, B.A.4
Nelson, D.L.5
Paylor, R.6
-
46
-
-
0026922707
-
DNA methylation represses FMR-1 transcription in fragile X syndrome
-
Sutcliffe J. S., Nelson D. L., Zhang F., Pieretti M., Caskey C. T., Saxe D. Warren S. T. (1992) DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum. Mol. Genet. 1, 397 400.
-
(1992)
Hum. Mol. Genet.
, vol.1
, pp. 397-400
-
-
Sutcliffe, J.S.1
Nelson, D.L.2
Zhang, F.3
Pieretti, M.4
Caskey, C.T.5
Saxe, D.6
Warren, S.T.7
-
48
-
-
0033940157
-
Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome
-
Tassone F., Hagerman R. J., Taylor A. K., Gane L. W., Godfrey T. E. Hagerman P. J. (2000b) 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
Hagerman, R.J.2
Taylor, A.K.3
Gane, L.W.4
Godfrey, T.E.5
Hagerman, P.J.6
-
49
-
-
0034016083
-
Clinical involvement and protein expression in individuals with the FMR1 premutation
-
Tassone F., Hagerman R. J., Taylor A. K., Mills J. B., Harris S. W., Gane L. W. Hagerman P. J. (2000c) Clinical involvement and protein expression in individuals with the FMR1 premutation. Am. J. Med. Genet. 91, 144 152.
-
(2000)
Am. J. Med. Genet.
, vol.91
, pp. 144-152
-
-
Tassone, F.1
Hagerman, R.J.2
Taylor, A.K.3
Mills, J.B.4
Harris, S.W.5
Gane, L.W.6
Hagerman, P.J.7
-
50
-
-
23944431645
-
FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Tassone F., Iwahashi C. Hagerman P. J. (2004a) FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS). RNA Biol. 1, 103 105.
-
(2004)
RNA Biol.
, vol.1
, pp. 103-105
-
-
Tassone, F.1
Iwahashi, C.2
Hagerman, P.J.3
-
51
-
-
2342578152
-
Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome
-
Tassone F., Hagerman R. J., Garcia-Arocena D., Khandjian E. W., Greco C. M. Hagerman P. J. (2004b) 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
-
-
Tassone, F.1
Hagerman, R.J.2
Garcia-Arocena, D.3
Khandjian, E.W.4
Greco, C.M.5
Hagerman, P.J.6
-
52
-
-
34250869612
-
CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Tassone F., Adams J., Berry-Kravis E. M., Cohen S. S., Brusco A., Leehey M. A., Li L., Hagerman R. J. Hagerman P. J. (2007a) CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS). Am. J. Med. Genet. B Neuropsychiatr. Genet. 144B, 566 569.
-
(2007)
Am. J. Med. Genet. B Neuropsychiatr. Genet.
, vol.144
, pp. 566-569
-
-
Tassone, F.1
Adams, J.2
Berry-Kravis, E.M.3
Cohen, S.S.4
Brusco, A.5
Leehey, M.A.6
Li, L.7
Hagerman, R.J.8
Hagerman, P.J.9
-
53
-
-
33947722883
-
Elevated FMR1 mRNA in premutation carriers is due to increased transcription
-
Tassone F., Beilina A., Carosi C., Albertosi S., Bagni C., Li L., Glover K., Bentley D. Hagerman P. J. (2007b) Elevated FMR1 mRNA in premutation carriers is due to increased transcription. RNA 13, 555 562.
-
(2007)
RNA
, vol.13
, pp. 555-562
-
-
Tassone, F.1
Beilina, A.2
Carosi, C.3
Albertosi, S.4
Bagni, C.5
Li, L.6
Glover, K.7
Bentley, D.8
Hagerman, P.J.9
-
54
-
-
0029919450
-
Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy
-
Timchenko L. T., Miller J. W., Timchenko N. A., DeVore D. R., Datar K. V., Lin L., Roberts R., Caskey C. T. Swanson M. S. (1996) Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Nucleic Acids Res. 24, 4407 4414.
-
(1996)
Nucleic Acids Res.
, vol.24
, pp. 4407-4414
-
-
Timchenko, L.T.1
Miller, J.W.2
Timchenko, N.A.3
Devore, D.R.4
Datar, K.V.5
Lin, L.6
Roberts, R.7
Caskey, C.T.8
Swanson, M.S.9
-
55
-
-
0027236971
-
Characterization and localization of the FMR-1 gene product associated with fragile X syndrome
-
Verheij C., Bakker C. E., de Graaff E. et al. (1993) Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature 363, 722 724.
-
(1993)
Nature
, vol.363
, pp. 722-724
-
-
Verheij, C.1
Bakker, C.E.2
De Graaff, E.3
-
56
-
-
0025905795
-
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
-
Verkerk A. J., Pieretti M., Sutcliffe J. S. et al. (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65, 905 914.
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.J.1
Pieretti, M.2
Sutcliffe, J.S.3
-
57
-
-
0038025990
-
The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; Implications for the cerebellar tremor/ataxia syndrome
-
Willemsen R., Hoogeveen-Westerveld M., Reis S. 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
Hoogeveen-Westerveld, M.2
Reis, S.3
-
58
-
-
0030008960
-
Fragile X "gray zone" alleles: AGG patterns, expansion risks, and associated haplotypes
-
Zhong N., Ju W. N., Pietrofesa J., Wang D. W., Dobkin C. Brown W. T. (1996) Fragile X "gray zone" alleles: AGG patterns, expansion risks, and associated haplotypes. Am. J. Med. Genet. 64, 261 265.
-
(1996)
Am. J. Med. Genet.
, vol.64
, pp. 261-265
-
-
Zhong, N.1
Ju, W.N.2
Pietrofesa, J.3
Wang, D.W.4
Dobkin, C.5
Brown, W.T.6
-
59
-
-
12744259994
-
FMR1 premutation as a rare cause of late onset ataxia. Evidence for FXTAS in female carriers
-
Zuhlke C., Budnik A., Gehlken U., Dalski A., Purmann S., Naumann M., Schmidt M., Burk K. Schwinger E. (2004) FMR1 premutation as a rare cause of late onset ataxia. Evidence for FXTAS in female carriers. J. Neurol. 251, 1418 1419.
-
(2004)
J. Neurol.
, vol.251
, pp. 1418-1419
-
-
Zuhlke, C.1
Budnik, A.2
Gehlken, U.3
Dalski, A.4
Purmann, S.5
Naumann, M.6
Schmidt, M.7
Burk, K.8
Schwinger, E.9
|