-
1
-
-
69849090240
-
Fragile x syndrome: From molecular genetics to therapy
-
PMID: 19724010
-
D'Hulst C, Kooy RF. Fragile X syndrome: from molecular genetics to therapy. J Med Genet. 2009; 46 (9):577-84. doi:10.1136/jmg.2008.064667 PMID: 19724010.
-
(2009)
J Med Genet
, vol.46
, Issue.9
, pp. 577-584
-
-
D'Hulst, C.1
Kooy, R.F.2
-
2
-
-
0001966753
-
Physical and behavioral phenotype
-
Hagerman RJ, Hagerman PJ, editors. 3nd ed. Baltimore, MA: Johns Hopkins University Press
-
Hagerman RJ. Physical and behavioral phenotype. In: Hagerman RJ, Hagerman PJ, editors. Fragile X syndrome: diagnosis, treatment and research. 3nd ed. Baltimore, MA: Johns Hopkins University Press; 2002. p. 3-109.
-
(2002)
Fragile X Syndrome: Diagnosis, Treatment and Research
, pp. 3-109
-
-
Hagerman, R.J.1
-
3
-
-
0032773639
-
Epilepsy and EEG findings in males with fragile x syndrome
-
PMID: 10448821
-
Musumeci SA, Hagerman RJ, Ferri R, Bosco P, Dalla Bernardina B, Tassinari CA, et al. Epilepsy and EEG findings in males with fragile X syndrome. Epilepsia. 1999; 40(8):1092-9. PMID: 10448821.
-
(1999)
Epilepsia
, vol.40
, Issue.8
, pp. 1092-1099
-
-
Musumeci, S.A.1
Hagerman, R.J.2
Ferri, R.3
Bosco, P.4
Dalla, B.B.5
Tassinari, C.A.6
-
4
-
-
84896732761
-
Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile x syndrome
-
PMID: 24578575
-
Colak D, Zaninovic N, Cohen MS, Rosenwaks Z, Yang WY, Gerhardt J, et al. Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome. Science. 2014; 343(6174):1002-5. doi: 10.1126/science.1245831 PMID: 24578575.
-
(2014)
Science
, vol.343
, Issue.6174
, pp. 1002-1005
-
-
Colak, D.1
Zaninovic, N.2
Cohen, M.S.3
Rosenwaks, Z.4
Yang, W.Y.5
Gerhardt, J.6
-
5
-
-
84856879093
-
Molecular mechanisms of fragile x syndrome: A twenty-year perspective
-
PMID: 22017584
-
Santoro MR, Bray SM, Warren ST. Molecular mechanisms of fragile X syndrome: A twenty-year perspective. Annu Rev Pathol. 2012; 7:219-45. doi:10.1146/annurev-pathol-011811-132457 PMID: 22017584.
-
(2012)
Annu Rev Pathol
, vol.7
, pp. 219-245
-
-
Santoro, M.R.1
Bray, S.M.2
Warren, S.T.3
-
6
-
-
84870543150
-
Fragile x syndrome: Causes, diagnosis, mechanisms, and therapeutics
-
PMID: 23202739
-
Bagni C, Tassone F, Neri G, Hagerman R. Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics. J Clin Invest. 2012; 122(12):4314-22doi:10.1172/JCI63141 PMID: 23202739.
-
(2012)
J Clin Invest
, vol.122
, Issue.12
, pp. 4314-4322
-
-
Bagni, C.1
Tassone, F.2
Neri, G.3
Hagerman, R.4
-
7
-
-
84908384229
-
Insights into gabaaergic system deficits in fragile x syndrome lead to clinical trials
-
PMID: 25016041
-
Braat S, Kooy RF. Insights into GABAAergic system deficits in fragile X syndrome lead to clinical trials. Neuropharmacology. 2015; 88:48-54doi:10.1016/j.neuropharm.2014.06.028 PMID: 25016041.
-
(2015)
Neuropharmacology
, vol.88
, pp. 48-54
-
-
Braat, S.1
Kooy, R.F.2
-
8
-
-
13044251823
-
Attenuated sensitivity to neuroactive steroids in g-aminobutyrate type a receptor delta subunit knockout mice
-
PMID: 10536021
-
Mihalek RM, Banerjee PK, Korpi ER, Quinlan JJ, Firestone LL, Mi Z-P, et al. Attenuated sensitivity to neuroactive steroids in g-aminobutyrate type A receptor delta subunit knockout mice. Proc Natl Acad Sci USA. 1999; 96(22):12905-10. PMID: 10536021.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, Issue.22
, pp. 12905-12910
-
-
Mihalek, R.M.1
Banerjee, P.K.2
Korpi, E.R.3
Quinlan, J.J.4
Firestone, L.L.5
Mi, Z.-P.6
-
9
-
-
0031799363
-
International union of pharmacology. Xv. Subtypes of g-aminobutyric acida receptors: Classification on the basis of subunit structure and receptor function
-
PMID: 9647870
-
Barnard EA, Skolnick P, Olsen RW, Mohler H, Sieghart W, Biggio G, et al. International Union of Pharmacology. XV. Subtypes of g-aminobutyric acidA receptors: classification on the basis of subunit structure and receptor function. Pharmacol Rev. 1998; 50(2):291-313. PMID: 9647870.
-
(1998)
Pharmacol Rev
, vol.50
, Issue.2
, pp. 291-313
-
-
Barnard, E.A.1
Skolnick, P.2
Olsen, R.W.3
Mohler, H.4
Sieghart, W.5
Biggio, G.6
-
10
-
-
41049102573
-
Identification of small molecules rescuing fragile x syndrome phenotypes in drosophila
-
78 PMID: 18327252
-
Chang S, Bray SM, Li Z, Zarnescu DC, He C, Jin P, et al. Identification of small molecules rescuing fragile X syndrome phenotypes in Drosophila. Nat Chem Biol. 2008; 4(4):256-63 doi:10.1038/nchembio78 PMID: 18327252.
-
(2008)
Nat Chem Biol
, vol.4
, Issue.4
, pp. 256-263
-
-
Chang, S.1
Bray, S.M.2
Li, Z.3
Zarnescu, D.C.4
He, C.5
Jin, P.6
-
11
-
-
84856578911
-
Pharmacological treatment of fragile x syndrome with gabaergic drugs in a knockout mouse model
-
PMID: 22285772
-
Heulens I, D'Hulst C, Van Dam D, De Deyn PP, Kooy RF. Pharmacological treatment of fragile X syndrome with GABAergic drugs in a knockout mouse model. Behav Brain Res. 2012; 229(1):244-9. doi:10.1016/j.bbr.2012.01.031PMID: 22285772.
-
(2012)
Behav Brain Res
, vol.229
, Issue.1
, pp. 244-249
-
-
Heulens, I.1
D'Hulst, C.2
Van Dam, D.3
De Deyn, P.P.4
Kooy, R.F.5
-
12
-
-
84942021759
-
The gaba receptor is an fmrp target with therapeutic potential in fragile x syndrome
-
Braat S, D'Hulst C, Heulens I, De Rubeis S, Mientjes E, Nelson DL, et al. The GABA Receptor is an FMRP Target with Therapeutic Potential in Fragile X Syndrome. Cell Cycle. 2015. doi:10.4161/15384101.2014.989114.
-
(2015)
Cell Cycle
-
-
Braat, S.1
D'Hulst, C.2
Heulens, I.3
De Rubeis, S.4
Mientjes, E.5
Nelson, D.L.6
-
13
-
-
83055184199
-
The gaba(a) receptor agonist thip ameliorates specific behavioral deficits in the mouse model of fragile x syndrome
-
PMID: 22067669
-
Olmos-Serrano JL, Corbin JG, Burns MP. The GABA(A) receptor agonist THIP ameliorates specific behavioral deficits in the mouse model of fragile X syndrome. Dev Neurosci. 2011; 33(5):395-403. doi:10.1159/000332884 PMID: 22067669.
-
(2011)
Dev Neurosci
, vol.33
, Issue.5
, pp. 395-403
-
-
Olmos-Serrano, J.L.1
Corbin, J.G.2
Burns, M.P.3
-
14
-
-
77954851827
-
Defective gabaergic neurotransmission and pharmacological rescue of neuronal hyperexcitability in the amygdala in a mouse model of fragile x syndrome
-
PMID: 20660275
-
Olmos-Serrano JL, Paluszkiewicz SM, Martin BS, Kaufmann WE, Corbin JG, Huntsman MM. Defective GABAergic neurotransmission and pharmacological rescue of neuronal hyperexcitability in the amygdala in a mouse model of fragile X syndrome. J Neurosci. 2010; 30(29):9929-38. doi:10.1523/jneurosci.1714-10.2010 PMID: 20660275.
-
(2010)
J Neurosci
, vol.30
, Issue.29
, pp. 9929-9938
-
-
Olmos-Serrano, J.L.1
Paluszkiewicz, S.M.2
Martin, B.S.3
Kaufmann, W.E.4
Corbin, J.G.5
Huntsman, M.M.6
-
15
-
-
35848962080
-
Disease-modifying therapies for Alzheimer disease: Challenges to early intervention
-
PMID: 17938373
-
Cummings JL, Doody R, Clark C. Disease-modifying therapies for Alzheimer disease: challenges to early intervention. Neurology. 2007; 69(16):1622-34. PMID: 17938373.
-
(2007)
Neurology
, vol.69
, Issue.16
, pp. 1622-1634
-
-
Cummings, J.L.1
Doody, R.2
Clark, C.3
-
16
-
-
4544231143
-
Radionuclide imaging in drug development
-
PMID: 15379658
-
Perkins AC, Frier M. Radionuclide imaging in drug development. Curr Pharm Des. 2004; 10(24):2907- 21. PMID: 15379658.
-
(2004)
Curr Pharm des
, vol.10
, Issue.24
, pp. 2907-2921
-
-
Perkins, A.C.1
Frier, M.2
-
17
-
-
0002560053
-
Molecular detection of dynamic mutations
-
Adolph KW, editor. Boca Raton, Florida: CRC Press
-
Kooy RF, Oostra BA, Willems PJ. Molecular detection of dynamic mutations. In: Adolph KW, editor. Human Genome Methods. Boca Raton, Florida: CRC Press; 1997. p. 23-53.
-
(1997)
Human Genome Methods
, pp. 23-53
-
-
Kooy, R.F.1
Oostra, B.A.2
Willems, P.J.3
-
18
-
-
45449099066
-
In vivo characterization and dynamic receptor occupancy imaging of tpa023b, an alpha 2/alpha 3/alpha 5 subtype selective gamma-aminobutyric acid -A partial agonist
-
PMID: 18339360
-
Van Laere K, Bormans G, Sanabria-Bohorquez SM, de Groot T, Dupont P, De Lepeleire I, et al. In vivo characterization and dynamic receptor occupancy imaging of TPA023B, an alpha 2/alpha 3/alpha 5 subtype selective gamma-aminobutyric acid-a partial agonist. Biol Psychiatry. 2008; 64(2):153-61. doi:10.1016/j.biopsych.2008.01.021 PMID: 18339360.
-
(2008)
Biol Psychiatry
, vol.64
, Issue.2
, pp. 153-161
-
-
Van Laere, K.1
Bormans, G.2
Sanabria-Bohorquez, S.M.3
De, G.T.4
Dupont, P.5
De Lepeleire, I.6
-
19
-
-
34547846251
-
Consensus nomenclature for in vivo imaging of reversibly binding radioligands
-
PMID: 17519979
-
Innis RB, Cunningham VJ, Delforge J, Fujita M, Gjedde A, Gunn RN, et al. Consensus nomenclature for in vivo imaging of reversibly binding radioligands. J Cereb Blood Flow Metab. 2007; 27(9):1533-9. doi:10.1038/sj.jcbfm.9600493 PMID: 17519979.
-
(2007)
J Cereb Blood Flow Metab
, vol.27
, Issue.9
, pp. 1533-1539
-
-
Innis, R.B.1
Cunningham, V.J.2
Delforge, J.3
Fujita, M.4
Gjedde, A.5
Gunn, R.N.6
-
20
-
-
44349147286
-
Measurement of gabaa receptor binding in vivo with [11c]flumazenil: A test-retest study in healthy subjects
-
PMID: 18411060
-
Salmi E, Aalto S, Hirvonen J, Langsjo JW, Maksimow AT, Oikonen V, et al. Measurement of GABAA receptor binding in vivo with [11C]flumazenil: A test-retest study in healthy subjects. Neuroimage. 2008; 41(2):260-9. doi:10.1016/j.neuroimage.2008.02.035 PMID: 18411060.
-
(2008)
Neuroimage
, vol.41
, Issue.2
, pp. 260-269
-
-
Salmi, E.1
Aalto, S.2
Hirvonen, J.3
Langsjo, J.W.4
Maksimow, A.T.5
Oikonen, V.6
-
21
-
-
33745551445
-
Metabolic imaging of anterior capsular stimulation in refractory obsessive-compulsive disorder: A key role for the subgenual anterior cingulate and ventral striatum
-
PMID: 16644742
-
Van Laere K, Nuttin B, Gabriels L, Dupont P, Rasmussen S, Greenberg BD, et al. Metabolic imaging of anterior capsular stimulation in refractory obsessive-compulsive disorder: A key role for the subgenual anterior cingulate and ventral striatum. J Nucl Med. 2006; 47(5):740-7. PMID: 16644742.
-
(2006)
J Nucl Med
, vol.47
, Issue.5
, pp. 740-747
-
-
Van Laere, K.1
Nuttin, B.2
Gabriels, L.3
Dupont, P.4
Rasmussen, S.5
Greenberg, B.D.6
-
22
-
-
3242790134
-
Genetic modifiers in mice: The example of the fragile x mouse model
-
PMID: 15237233
-
Errijgers V, Kooy RF. Genetic modifiers in mice: The example of the fragile X mouse model. Cytogenet Genome Res. 2004; 105:448-54. PMID: 15237233.
-
(2004)
Cytogenet Genome Res
, vol.105
, pp. 448-454
-
-
Errijgers, V.1
Kooy, R.F.2
-
23
-
-
27644472190
-
Positron emission tomography methods with potential for increased understanding of mental retardation and developmental disabilities
-
PMID: 16240413
-
Sundaram SK, Chugani HT, Chugani DC. Positron emission tomography methods with potential for increased understanding of mental retardation and developmental disabilities. Ment Retard Dev Disabil Res Rev. 2005; 11(4):325-30. PMID: 16240413.
-
(2005)
Ment Retard Dev Disabil Res Rev
, vol.11
, Issue.4
, pp. 325-330
-
-
Sundaram, S.K.1
Chugani, H.T.2
Chugani, D.C.3
-
24
-
-
18344386200
-
Association analysis of chromosome 15 gabaa receptor subunit genes in autistic disorder
-
PMID: 12092907
-
Menold MM, Shao Y, Wolpert CM, Donnelly SL, Raiford KL, Martin ER, et al. Association analysis of chromosome 15 gabaa receptor subunit genes in autistic disorder. J Neurogenet. 2001; 15(3-4):245- 59. PMID: 12092907.
-
(2001)
J Neurogenet
, vol.15
, Issue.3-4
, pp. 245-259
-
-
Menold, M.M.1
Shao, Y.2
Wolpert, C.M.3
Donnelly, S.L.4
Raiford, K.L.5
Martin, E.R.6
-
25
-
-
0026338111
-
Localization of the gene encoding the gabaa receptor beta 3 subunit to the angelman/prader-willi region of human chromosome 15
-
PMID: 1714232
-
Wagstaff J, Knoll JH, Fleming J, Kirkness EF, Martin-Gallardo A, Greenberg F, et al. Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15. Am J Hum Genet. 1991; 49(2):330-7. PMID: 1714232.
-
(1991)
Am J Hum Genet
, vol.49
, Issue.2
, pp. 330-337
-
-
Wagstaff, J.1
Knoll, J.H.2
Fleming, J.3
Kirkness, E.F.4
Martin-Gallardo, A.5
Greenberg, F.6
-
26
-
-
11144358664
-
Gabaa receptor abnormalities in prader-willi syndrome assessed with positron emission tomography and [11c]flumazenil
-
PMID: 15109994
-
Lucignani G, Panzacchi A, Bosio L, Moresco RM, Ravasi L, Coppa I, et al. GABAA receptor abnormalities in Prader-Willi syndrome assessed with positron emission tomography and [11C]flumazenil. Neuroimage. 2004; 22(1):22-8. PMID: 15109994.
-
(2004)
Neuroimage
, vol.22
, Issue.1
, pp. 22-28
-
-
Lucignani, G.1
Panzacchi, A.2
Bosio, L.3
Moresco, R.M.4
Ravasi, L.5
Coppa, I.6
-
27
-
-
0034745606
-
Decreased binding of [11c]flumazenil in angelman syndrome patients with gaba(a) receptor beta3 subunit deletions
-
PMID: 11198279
-
Holopainen IE, Metsahonkala EL, Kokkonen H, Parkkola RK, Manner TE, Nagren K, et al. Decreased binding of [11C]flumazenil in Angelman syndrome patients with GABA(A) receptor beta3 subunit deletions. Ann Neurol. 2001; 49(1):110-3. PMID: 11198279.
-
(2001)
Ann Neurol
, vol.49
, Issue.1
, pp. 110-113
-
-
Holopainen, I.E.1
Metsahonkala, E.L.2
Kokkonen, H.3
Parkkola, R.K.4
Manner, T.E.5
Nagren, K.6
-
28
-
-
33750726094
-
Decreased expression of the gabaa receptor in fragile x syndrome
-
PMID: 17046729
-
D'Hulst C, De Geest N, Reeve SP, Van Dam D, De Deyn PP, Hassan BA, et al. Decreased expression of the GABAA receptor in fragile X syndrome. Brain Res. 2006; 1121(1):238-45. PMID: 17046729.
-
(2006)
Brain Res
, vol.1121
, Issue.1
, pp. 238-245
-
-
D'Hulst, C.1
De Geest, N.2
Reeve, S.P.3
Van Dam, D.4
De Deyn, P.P.5
Hassan, B.A.6
-
29
-
-
58249135425
-
Expression of the gabaergic system in animal models for fragile x syndrome and fragile x associated tremor/ataxia syndrome fxtas
-
PMID: 19070606
-
D'Hulst C, Heulens I, Brouwer JR, Willemsen R, De Geest N, Reeve SP, et al. Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS). Brain Res. 2009; 1253:176-83. doi:10.1016/j.brainres.2008.11.075 PMID: 19070606.
-
(2009)
Brain Res
, vol.1253
, pp. 176-183
-
-
D'Hulst, C.1
Heulens, I.2
Brouwer, J.R.3
Willemsen, R.4
De Geest, N.5
Reeve, S.P.6
-
30
-
-
34447621203
-
The gaba(a) receptor: A novel target for treatment of fragile x?
-
PMID: 17590448
-
D'Hulst C, Kooy RF. The GABA(A) receptor: A novel target for treatment of fragile X? Trends Neurosci. 2007; 30(8):425-31. PMID: 17590448.
-
(2007)
Trends Neurosci
, vol.30
, Issue.8
, pp. 425-431
-
-
D'Hulst, C.1
Kooy, R.F.2
-
31
-
-
78049336409
-
Potential therapeutic interventions for fragile x syndrome
-
PMID: 20864408
-
Levenga J, de Vrij FMS, Oostra BA, Willemsen R. Potential therapeutic interventions for fragile X syndrome. Trends Mol Med. 2010; 16(11):516-27. doi:10.1016/j.molmed.2010.08.005 PMID: 20864408.
-
(2010)
Trends Mol Med
, vol.16
, Issue.11
, pp. 516-527
-
-
Levenga, J.1
De Vrij, F.M.S.2
Oostra, B.A.3
Willemsen, R.4
-
32
-
-
79955039243
-
Fragile x syndrome: From gene discovery to therapy
-
3785 pii
-
Heulens I, Kooy F. Fragile X syndrome: from gene discovery to therapy. Front Biosci. 2011; 16:1211- 32. 3785 [pii].
-
(2011)
Front Biosci
, vol.16
, pp. 1211-1232
-
-
Heulens, I.1
Kooy, F.2
-
33
-
-
84899579632
-
Fragile x syndrome neurobiology translates into rational therapy
-
PMID: 24508819
-
Braat S, Kooy RF. Fragile X syndrome neurobiology translates into rational therapy. Drug Discov Today. 2014; 19(4):510-9. doi:10.1016/j.drudis.2014.01.013 PMID: 24508819.
-
(2014)
Drug Discov Today
, vol.19
, Issue.4
, pp. 510-519
-
-
Braat, S.1
Kooy, R.F.2
-
34
-
-
3042647610
-
The mglur theory of fragile x mental retardation
-
PMID: 15219735
-
Bear MF, Huber KM, Warren ST. The mGluR theory of fragile X mental retardation. Trends Neurosci. 2004; 27(7):370-7. PMID: 15219735.
-
(2004)
Trends Neurosci
, vol.27
, Issue.7
, pp. 370-377
-
-
Bear, M.F.1
Huber, K.M.2
Warren, S.T.3
-
35
-
-
78650937072
-
Epigenetic modification of the fmr1 gene in fragile x syndrome is associated with differential response to the mglur5 antagonist afq056
-
3/64/64ra1 [pii] doi, PMID: 21209411
-
Jacquemont S, Curie A, des Portes V, Torrioli MG, Berry-Kravis E, Hagerman RJ, et al. Epigenetic modification of the FMR1 Gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Sci Transl Med. 2011; 3(64):64ra1. 3/64/64ra1 [pii] doi10.1126/scitranslmed.3001708 PMID: 21209411.
-
(2011)
Sci Transl Med
, vol.3
, Issue.64
, pp. 64ra1
-
-
Jacquemont, S.1
Curie, A.2
Des Portes, V.3
Torrioli, M.G.4
Berry-Kravis, E.5
Hagerman, R.J.6
-
36
-
-
84866628742
-
Effects of stx209 (arbaclofen) on neurobehavioral function in children and adults with fragile x syndrome: A randomized, controlled, phase 2 trial
-
Berry-Kravis EM, Hessl D, Rathmell B, Zarevics P, Cherubini M, Walton-Bowen K, et al. Effects of STX209 (Arbaclofen) on Neurobehavioral Function in Children and Adults with Fragile X Syndrome: A Randomized, Controlled, Phase 2 Trial. Sci Transl Med. 2012; 4(152):152ra27. doi:10.1126/scitranslmed.3004214.
-
(2012)
Sci Transl Med
, vol.4
, Issue.152
, pp. 152ra27
-
-
Berry-Kravis, E.M.1
Hessl, D.2
Rathmell, B.3
Zarevics, P.4
Cherubini, M.5
Walton-Bowen, K.6
|