-
1
-
-
0000502460
-
-
Scriver, C.R., Beaudet, A.L., Valle, D., Childs, B., Kinzler, K.W. and Vogelstein, B. (eds), McGraw-Hill Companies, New York
-
Warren, S.T. and Sherman, S.L. (2001) In Scriver, C.R., Beaudet, A.L., Valle, D., Childs, B., Kinzler, K.W. and Vogelstein, B. (eds), The Metabolic & Molecular Bases of Inherited Disease. McGraw-Hill Companies, New York, Vol. I, pp. 1257-1290.
-
(2001)
The Metabolic & Molecular Bases of Inherited Disease
, vol.1
, pp. 1257-1290
-
-
Warren, S.T.1
Sherman, S.L.2
-
2
-
-
0005968048
-
-
Hagerman, R.J. (eds), The Johns Hopkins University Press, Baltimore, MD
-
Sherman, S. (2002) In Hagerman, R.J. (eds), Fragile X Syndrome: Diagnosis, Treatment and Research. The Johns Hopkins University Press, Baltimore, MD, pp. 136-168.
-
(2002)
Fragile X Syndrome: Diagnosis, Treatment and Research
, pp. 136-168
-
-
Sherman, S.1
-
3
-
-
0036591683
-
The fragile X premutation: into the phenotypic fold
-
Hagerman, R.J. and 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
-
4
-
-
2342635196
-
The fragile-X premutation: a maturing perspective
-
Hagerman, P.J. and 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
-
5
-
-
33750343705
-
Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Grigsby, J., Brega, A.G., Jacquemont, S., Loesch, D.Z., Leehey, M.A., Goodrich, G.K., Hagerman, R.J., Epstein, J., Wilson, R., Cogswell, J.B. 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
Loesch, D.Z.4
Leehey, M.A.5
Goodrich, G.K.6
Hagerman, R.J.7
Epstein, J.8
Wilson, R.9
Cogswell, J.B.10
-
6
-
-
32244440359
-
Psychiatric phenotype of the fragile X-associated tremor/ ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia
-
Bacalman, S., Farzin, F., Bourgeois, J.A., Cogswell, J., Goodlin-Jones, B.L., Gane, L.W., Grigsby, J., Leehey, M.A., Tassone, F. and Hagerman, R.J. (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. 87-94
-
-
Bacalman, S.1
Farzin, F.2
Bourgeois, J.A.3
Cogswell, J.4
Goodlin-Jones, B.L.5
Gane, L.W.6
Grigsby, J.7
Leehey, M.A.8
Tassone, F.9
Hagerman, R.J.10
-
7
-
-
27644483475
-
Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation
-
Hessl, D., Tassone, F., Loesch, D.Z., Berry-Kravis, E., Leehey, M.A., Gane, L.W., Barbato, I., Rice, C., Gould, E., Hall, D.A. 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., 139, 115-121.
-
(2005)
Am. J. Med. Genet. B Neuropsychiatr. Genet.
, vol.139
, pp. 115-121
-
-
Hessl, D.1
Tassone, F.2
Loesch, D.Z.3
Berry-Kravis, E.4
Leehey, M.A.5
Gane, L.W.6
Barbato, I.7
Rice, C.8
Gould, E.9
Hall, D.A.10
-
8
-
-
12144289389
-
Aging in individuals with the FMR1 mutation
-
Jacquemont, S., Farzin, F., Hall, D., Leehey, M., Tassone, F., Gane, L., Zhang, L., Grigsby, J., Jardini, T., Lewin, F. 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
Farzin, F.2
Hall, D.3
Leehey, M.4
Tassone, F.5
Gane, L.6
Zhang, L.7
Grigsby, J.8
Jardini, T.9
Lewin, F.10
-
9
-
-
30344473617
-
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Greco, C.M., Berman, R.F., Martin, R.M., Tassone, F., Schwartz, P.H., Chang, A., Trapp, B.D., Iwahashi, C., Brunberg, J., Grigsby, J. 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
Tassone, F.4
Schwartz, P.H.5
Chang, A.6
Trapp, B.D.7
Iwahashi, C.8
Brunberg, J.9
Grigsby, J.10
-
10
-
-
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. and 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
-
11
-
-
0041880131
-
RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila
-
Jin, P., Zarnescu, D.C., Zhang, F., Pearson, C.E., Lucchesi, J.C., Moses, K. and Warren, S.T. (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
Zarnescu, D.C.2
Zhang, F.3
Pearson, C.E.4
Lucchesi, J.C.5
Moses, K.6
Warren, S.T.7
-
12
-
-
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. and Hagerman, P.J. (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
Hagerman, R.J.2
Taylor, A.K.3
Gane, L.W.4
Godfrey, T.E.5
Hagerman, P.J.6
-
13
-
-
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., Holstege, J., Severijnen, L.A., Nieuwenhuizen, I.M., Schrier, M., van Unen, L., Tassone, F., Hoogeveen, A.T. 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
Holstege, J.4
Severijnen, L.A.5
Nieuwenhuizen, I.M.6
Schrier, M.7
van Unen, L.8
Tassone, F.9
Hoogeveen, A.T.10
-
14
-
-
23944431645
-
FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Tassone, F., Iwahashi, C. and Hagerman, P.J. (2004) 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
-
15
-
-
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. and 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
-
16
-
-
0042035602
-
Human neurodegenerative disease modeling using Drosophila
-
Bonini, N.M. and Fortini, M.E. (2003) Human neurodegenerative disease modeling using Drosophila. Annu. Rev. Neurosci., 26, 627-656.
-
(2003)
Annu. Rev. Neurosci.
, vol.26
, pp. 627-656
-
-
Bonini, N.M.1
Fortini, M.E.2
-
17
-
-
77954321829
-
Drosophila melanogaster in the study of human neurodegeneration
-
Hirth, F. (2010) Drosophila melanogaster in the study of human neurodegeneration. CNS Neurol. Disord. Drug Targets, 9, 504-523.
-
(2010)
CNS Neurol. Disord. Drug Targets
, vol.9
, pp. 504-523
-
-
Hirth, F.1
-
18
-
-
67349251869
-
Maintaining the brain: insight into human neurodegeneration from Drosophila melanogaster mutants
-
Lessing, D. and Bonini, N.M. (2009) Maintaining the brain: insight into human neurodegeneration from Drosophila melanogaster mutants. Nat. Rev. Genet., 10, 359-370.
-
(2009)
Nat. Rev. Genet.
, vol.10
, pp. 359-370
-
-
Lessing, D.1
Bonini, N.M.2
-
19
-
-
78249260595
-
Locomotor activity level monitoring using the Drosophila Activity Monitoring (DAM) System
-
doi:10.1101/pdb prot5518
-
Pfeiffenberger, C., Lear, B.C., Keegan, K.P. and Allada, R. (2010) Locomotor activity level monitoring using the Drosophila Activity Monitoring (DAM) System. Cold Spring Harb. Protoc., doi:10.1101/pdb prot5518.
-
(2010)
Cold Spring Harb. Protoc.
-
-
Pfeiffenberger, C.1
Lear, B.C.2
Keegan, K.P.3
Allada, R.4
-
20
-
-
0021148959
-
Utilization of epidermal phospholipase A2 inhibition to monitor topical steroid action
-
Norris, J.F., Ilderton, E., Yardley, H.J., Summerly, R. and Forster, S. (1984) Utilization of epidermal phospholipase A2 inhibition to monitor topical steroid action. Br. J. Dermatol., 111 (Suppl. 27), 195-203.
-
(1984)
Br. J. Dermatol.
, vol.111
, Issue.SUPPL. 27
, pp. 195-203
-
-
Norris, J.F.1
Ilderton, E.2
Yardley, H.J.3
Summerly, R.4
Forster, S.5
-
21
-
-
33646594976
-
Phospholipase A2-generated lipid mediators in the brain: the good, the bad, and the ugly
-
Farooqui, A.A. and Horrocks, L.A. (2006) Phospholipase A2-generated lipid mediators in the brain: the good, the bad, and the ugly. Neuroscientist, 12, 245-260.
-
(2006)
Neuroscientist
, vol.12
, pp. 245-260
-
-
Farooqui, A.A.1
Horrocks, L.A.2
-
22
-
-
33748804968
-
Inhibitors of brain phospholipase A2 activity: their neuropharmacological effects and therapeutic importance for the treatment of neurologic disorders
-
Farooqui, A.A., Ong, W.Y. and Horrocks, L.A. (2006) Inhibitors of brain phospholipase A2 activity: their neuropharmacological effects and therapeutic importance for the treatment of neurologic disorders. Pharmacol. Rev., 58, 591-620.
-
(2006)
Pharmacol. Rev.
, vol.58
, pp. 591-620
-
-
Farooqui, A.A.1
Ong, W.Y.2
Horrocks, L.A.3
-
23
-
-
0042672758
-
Citicoline decreases phospholipase A2 stimulation and hydroxyl radical generation in transient cerebral ischemia
-
Adibhatla, R.M. and Hatcher, J.F. (2003) Citicoline decreases phospholipase A2 stimulation and hydroxyl radical generation in transient cerebral ischemia. J. Neurosci. Res., 73, 308-315.
-
(2003)
J. Neurosci. Res.
, vol.73
, pp. 308-315
-
-
Adibhatla, R.M.1
Hatcher, J.F.2
-
24
-
-
0034744060
-
The phospholipase A2 inhibitor quinacrine prevents increased immunoreactivity to cytoplasmic phospholipase A2 (cPLA2) and hydroxynonenal (HNE) in neurons of the lateral septum following fimbria-fornix transection. Exp
-
Lu, X.R., Ong, W.Y. and Halliwell, B. (2001) The phospholipase A2 inhibitor quinacrine prevents increased immunoreactivity to cytoplasmic phospholipase A2 (cPLA2) and hydroxynonenal (HNE) in neurons of the lateral septum following fimbria-fornix transection. Exp. Brain Res., 138, 500-508.
-
(2001)
Brain Res
, vol.138
, pp. 500-508
-
-
Lu, X.R.1
Ong, W.Y.2
Halliwell, B.3
-
25
-
-
0027131849
-
NMR structural studies of the tight complex between a trifluoromethyl ketone inhibitor and the 85-kDa human phospholipase A2
-
Trimble, L.A., Street, I.P., Perrier, H., Tremblay, N.M., Weech, P.K. and Bernstein, M.A. (1993) NMR structural studies of the tight complex between a trifluoromethyl ketone inhibitor and the 85-kDa human phospholipase A2. Biochemistry, 32, 12560-12565.
-
(1993)
Biochemistry
, vol.32
, pp. 12560-12565
-
-
Trimble, L.A.1
Street, I.P.2
Perrier, H.3
Tremblay, N.M.4
Weech, P.K.5
Bernstein, M.A.6
-
26
-
-
0031850628
-
Computation with the KEGG pathway database
-
Ogata, H., Goto, S., Fujibuchi, W. and Kanehisa, M. (1998) Computation with the KEGG pathway database. Biosystems, 47, 119-128.
-
(1998)
Biosystems
, vol.47
, pp. 119-128
-
-
Ogata, H.1
Goto, S.2
Fujibuchi, W.3
Kanehisa, M.4
-
27
-
-
0032948111
-
Regulation and inhibition of phospholipase A2
-
Balsinde, J., Balboa, M.A., Insel, P.A. and Dennis, E.A. (1999) Regulation and inhibition of phospholipase A2. Annu. Rev. Pharmacol. Toxicol., 39, 175-189.
-
(1999)
Annu. Rev. Pharmacol. Toxicol.
, vol.39
, pp. 175-189
-
-
Balsinde, J.1
Balboa, M.A.2
Insel, P.A.3
Dennis, E.A.4
-
28
-
-
0027340134
-
Phospholipase A2 enzymes: regulation and inhibition
-
Glaser, K.B., Mobilio, D., Chang, J.Y. and Senko, N. (1993) Phospholipase A2 enzymes: regulation and inhibition. Trends Pharmacol. Sci., 14, 92-98.
-
(1993)
Trends Pharmacol. Sci.
, vol.14
, pp. 92-98
-
-
Glaser, K.B.1
Mobilio, D.2
Chang, J.Y.3
Senko, N.4
-
29
-
-
0031026632
-
Selective inhibition of cytosolic phospholipase A2 in activated human monocytes. Regulation of superoxide anion production and low density lipoprotein oxidation
-
Li, Q. and Cathcart, M.K. (1997) Selective inhibition of cytosolic phospholipase A2 in activated human monocytes. Regulation of superoxide anion production and low density lipoprotein oxidation. J. Biol. Chem., 272, 2404-2411.
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 2404-2411
-
-
Li, Q.1
Cathcart, M.K.2
-
30
-
-
1242297090
-
Phospholipase A2 in the central nervous system: implications for neurodegenerative diseases
-
Sun, G.Y., Xu, J., Jensen, M.D. and Simonyi, A. (2004) Phospholipase A2 in the central nervous system: implications for neurodegenerative diseases. J. Lipid. Res., 45, 205-213.
-
(2004)
J. Lipid. Res.
, vol.45
, pp. 205-213
-
-
Sun, G.Y.1
Xu, J.2
Jensen, M.D.3
Simonyi, A.4
-
31
-
-
77950529265
-
RNA-mediated neurodegeneration in repeat expansion disorders
-
Todd, P.K. and Paulson, H.L. (2010) RNA-mediated neurodegeneration in repeat expansion disorders. Ann. Neurol., 67, 291-300.
-
(2010)
Ann. Neurol.
, vol.67
, pp. 291-300
-
-
Todd, P.K.1
Paulson, H.L.2
-
32
-
-
0036720019
-
Mouse and fly models of neurodegeneration
-
Zoghbi, H.Y. and Botas, J. (2002) Mouse and fly models of neurodegeneration. Trends Genet., 18, 463-471.
-
(2002)
Trends Genet
, vol.18
, pp. 463-471
-
-
Zoghbi, H.Y.1
Botas, J.2
-
33
-
-
34547681603
-
Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome
-
Jin, P., Duan, R., Qurashi, A., Qin, Y., Tian, D., Rosser, T.C., Liu, H., Feng, Y. and Warren, S.T. (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
Duan, R.2
Qurashi, A.3
Qin, Y.4
Tian, D.5
Rosser, T.C.6
Liu, H.7
Feng, Y.8
Warren, S.T.9
-
34
-
-
79959845010
-
Nuclear accumulation of stress response mRNAs contributes to the neurodegeneration caused by Fragile X premutation rCGG repeats
-
Qurashi, A., Li, W., Zhou, J.Y., Peng, J. and Jin, P. (2011) Nuclear accumulation of stress response mRNAs contributes to the neurodegeneration caused by Fragile X premutation rCGG repeats. PLoS Genet., 7, e1002102.
-
(2011)
PLoS Genet
, vol.7
-
-
Qurashi, A.1
Li, W.2
Zhou, J.Y.3
Peng, J.4
Jin, P.5
-
35
-
-
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., Jin, P., Qin, Y., Duan, R., Liu, H., de Haro, M., Nelson, D.L. and Botas, J. (2007) 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
Jin, P.2
Qin, Y.3
Duan, R.4
Liu, H.5
de Haro, M.6
Nelson, D.L.7
Botas, J.8
-
36
-
-
47849090388
-
Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems
-
Hagerman, R.J., Hall, D.A., Coffey, S., Leehey, M., Bourgeois, J., Gould, J., Zhang, L., Seritan, A., Berry-Kravis, E., Olichney, J. et al. (2008) Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems. Clin. Interv. Aging, 3, 251-262.
-
(2008)
Clin. Interv. Aging
, vol.3
, pp. 251-262
-
-
Hagerman, R.J.1
Hall, D.A.2
Coffey, S.3
Leehey, M.4
Bourgeois, J.5
Gould, J.6
Zhang, L.7
Seritan, A.8
Berry-Kravis, E.9
Olichney, J.10
-
37
-
-
34248598584
-
Invertebrate animal models of diseases as screening tools in drug discovery
-
Segalat, L. (2007) Invertebrate animal models of diseases as screening tools in drug discovery. ACS Chem. Biol., 2, 231-236.
-
(2007)
ACS Chem. Biol.
, vol.2
, pp. 231-236
-
-
Segalat, L.1
-
38
-
-
77951950272
-
Combined R-alpha-lipoic acid and acetyl-L-carnitine exerts efficient preventative effects in a cellular model of Parkinson's disease
-
Zhang, H., Jia, H., Liu, J., Ao, N., Yan, B., Shen, W., Wang, X., Li, X. and Luo, C. (2010) Combined R-alpha-lipoic acid and acetyl-L-carnitine exerts efficient preventative effects in a cellular model of Parkinson's disease. J. Cell Mol. Med., 14, 215-225.
-
(2010)
J. Cell Mol. Med.
, vol.14
, pp. 215-225
-
-
Zhang, H.1
Jia, H.2
Liu, J.3
Ao, N.4
Yan, B.5
Shen, W.6
Wang, X.7
Li, X.8
Luo, C.9
|