-
1
-
-
0000524625
-
A pedigree of mental defect showing sex-linkage
-
Martin JP, Bell J. A pedigree of mental defect showing sex-linkage. J Neurol Psychiatry. 1943;6(3-4):154-157.
-
(1943)
J Neurol Psychiatry
, vol.6
, Issue.3-4
, pp. 154-157
-
-
Martin, J.P.1
Bell, J.2
-
2
-
-
70350519151
-
Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA
-
Coffee B, et al. Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet. 2009;85(4):503-514.
-
(2009)
Am J Hum Genet
, vol.85
, Issue.4
, pp. 503-514
-
-
Coffee, B.1
-
3
-
-
0027279817
-
Origins of the fragile X syndrome mutation
-
Hirst MC, Knight SJ, Christodoulou Z, Grewal PK, Fryns JP, Davies KE. Origins of the fragile X syndrome mutation. J Med Genet. 1993;30(8):647-650. (Pubitemid 23246114)
-
(1993)
Journal of Medical Genetics
, vol.30
, Issue.8
, pp. 647-650
-
-
Hirst, M.C.1
Knight, S.J.L.2
Christodoulou, Z.3
Grewal, P.K.4
Fryns, J.P.5
Davies, K.E.6
-
4
-
-
0021696779
-
Cytogenetic findings in moderate and severe mental retardation. A study of an institutionalized population of 1991 patients
-
Fryns JP, Kleczkowska A, Kubien E, Van den Berghe H. Cytogenetic findings in moderate and severe mental retardation. A study of an institutionalized population of 1991 patients. Acta Paediatr Scand Suppl. 1984;313:1-23.
-
(1984)
Acta Paediatr Scand Suppl
, vol.313
, pp. 1-23
-
-
Fryns, J.P.1
Kleczkowska, A.2
Kubien, E.3
Van Den Berghe, H.4
-
5
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the sherman paradox
-
Fu Y-H, et al. Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell. 1991;67(6):1047-1058. (Pubitemid 121001519)
-
(1991)
Cell
, vol.67
, Issue.6
, pp. 1047-1058
-
-
Fu, Y.-H.1
Kuhl, D.P.A.2
Pizzuti, A.3
Pieretti, M.4
Sutcliffe, J.S.5
Richards, S.6
Verkerk, A.J.M.H.7
Holden, J.J.A.8
Fenwick Jr., R.G.9
Warren, S.T.10
Oostra, B.A.11
Nelson, D.L.12
Caskey, C.T.13
-
6
-
-
0026777136
-
Intragenic probe used for diagnostics in fragile X families
-
Verkerk AJ, et al. Intragenic probe used for diagnostics in fragile X families. Am J Med Genet. 1992;43(1-2):192-196.
-
(1992)
Am J Med Genet
, vol.43
, Issue.1-2
, pp. 192-196
-
-
Verkerk, A.J.1
-
7
-
-
80955178868
-
FMR1 premutation and full mutation molecular mechanisms related to autism
-
Hagerman R, Au J, Hagerman P. FMR1 premutation and full mutation molecular mechanisms related to autism. J Neurodev Disord. 2011;3(3):211-224.
-
(2011)
J Neurodev Disord
, vol.3
, Issue.3
, pp. 211-224
-
-
Hagerman, R.1
Au, J.2
Hagerman, P.3
-
8
-
-
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 AJ, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. 1991;65(5):905-914. (Pubitemid 121001321)
-
(1991)
Cell
, vol.65
, Issue.5
, pp. 905-914
-
-
Verkerk, A.J.M.H.1
Pieretti, M.2
Sutcliffe, J.S.3
Fu, Y.-H.4
Kuhl, D.P.A.5
Pizzuti, A.6
Reiner, O.7
Richards, S.8
Victoria, M.F.9
Zhang, F.10
Eussen, B.E.11
Van Ommen, G.-J.B.12
Blonden, L.A.J.13
Riggins, G.J.14
Chastain, J.L.15
Kunst, C.B.16
Galjaard, H.17
Caskey, C.T.18
Nelson, D.L.19
Oostra, B.A.20
Warren, S.T.21
more..
-
9
-
-
0026339303
-
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
-
Oberle I, et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science. 1991;252(5009):1097-1102. (Pubitemid 21917021)
-
(1991)
Science
, vol.252
, Issue.5009
, pp. 1097-1102
-
-
Oberle, 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
-
10
-
-
69249093477
-
Expansion of an FMR1 grey-zone allele to a full mutation in two generations
-
Fernandez-Carvajal I, Lopez Posadas B, Pan R, Raske C, Hagerman PJ, Tassone F. Expansion of an FMR1 grey-zone allele to a full mutation in two generations. J Mol Diagn. 2009;11(4):306-310.
-
(2009)
J Mol Diagn
, vol.11
, Issue.4
, pp. 306-310
-
-
Fernandez-Carvajal, I.1
Lopez Posadas, B.2
Pan, R.3
Raske, C.4
Hagerman, P.J.5
Tassone, F.6
-
11
-
-
0037320928
-
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles
-
DOI 10.1086/367713
-
Nolin SL, et al. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet. 2003;72(2):454-464. (Pubitemid 36194253)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.2
, pp. 454-464
-
-
Nolin, S.L.1
Brown, W.T.2
Glicksman, A.3
Houck Jr., G.E.4
Gargano, A.D.5
Sullivan, A.6
Biancalana, V.7
Brondum-Nielsen, K.8
Hjalgrim, H.9
Holinski-Feder, E.10
Kooy, F.11
Longshore, J.12
Macpherson, J.13
Mandel, J.-L.14
Matthijs, G.15
Rousseau, F.16
Steinbach, P.17
Vaisanen, M.-L.18
Von Koskull, H.19
Sherman, S.L.20
more..
-
12
-
-
84864648965
-
AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome
-
Yrigollen CM, et al. AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genet Med. 2012;14(8):729-736.
-
(2012)
Genet Med
, vol.14
, Issue.8
, pp. 729-736
-
-
Yrigollen, C.M.1
-
13
-
-
19944431036
-
Molecular dissection of the events leading to inactivation of the FMR1 gene
-
Pietrobono R, et al. Molecular dissection of the events leading to inactivation of the FMR1 gene. Hum Mol Genet. 2005;14(2):267-277.
-
(2005)
Hum Mol Genet
, vol.14
, Issue.2
, pp. 267-277
-
-
Pietrobono, R.1
-
14
-
-
0025833298
-
Absence of expression of the FMR-1 gene in fragile X syndrome
-
Pieretti M, et al. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell. 1991;66(4):817-822. (Pubitemid 121001715)
-
(1991)
Cell
, vol.66
, Issue.4
, pp. 817-822
-
-
Pieretti, M.1
Zhang, F.2
Fu, Y.-H.3
Warren, S.T.4
Oostra, B.A.5
Caskey, C.T.6
Nelson, D.L.7
-
15
-
-
71849115415
-
A distinct DNA-methylation boundary in the 5′- upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome
-
Naumann A, Hochstein N, Weber S, Fanning E, Doerfler W. A distinct DNA-methylation boundary in the 5′- upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome. Am J Hum Genet. 2009;85(5):606-616.
-
(2009)
Am J Hum Genet
, vol.85
, Issue.5
, pp. 606-616
-
-
Naumann, A.1
Hochstein, N.2
Weber, S.3
Fanning, E.4
Doerfler, W.5
-
16
-
-
0031045874
-
Characterization of the full fragile X syndrome mutation in fetal gametes
-
DOI 10.1038/ng0297-165
-
Malter HE, et al. Characterization of the full fragile X syndrome mutation in fetal gametes. Nat Genet. 1997;15(2):165-169. (Pubitemid 27061635)
-
(1997)
Nature Genetics
, vol.15
, Issue.2
, pp. 165-169
-
-
Malter, H.E.1
Iber, J.C.2
Willemsen, R.3
De Graaff, E.4
Tarleton, J.C.5
Leisti, J.6
Warren, S.T.7
Oostra, B.A.8
-
17
-
-
0026922707
-
DNA methylation represses FMR-1 transcription in fragile X syndrome
-
Sutcliffe JS, et al. DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet. 1992;1(6):397-400.
-
(1992)
Hum Mol Genet
, vol.1
, Issue.6
, pp. 397-400
-
-
Sutcliffe, J.S.1
-
18
-
-
56749106679
-
Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations
-
Tabolacci E, Moscato U, Zalfa F, Bagni C, Chiurazzi P, Neri G. Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations. Eur J Hum Genet. 2008;16(12):1487-1498.
-
(2008)
Eur J Hum Genet
, vol.16
, Issue.12
, pp. 1487-1498
-
-
Tabolacci, E.1
Moscato, U.2
Zalfa, F.3
Bagni, C.4
Chiurazzi, P.5
Neri, G.6
-
19
-
-
0035830879
-
Interaction of the transcription factors USF1, USF2, and (alpha)-PAL/Nrf-1 with the FMR1 promoter
-
Kumari D, Usdin K. Interaction of the transcription factors USF1, USF2, and (alpha)-PAL/Nrf-1 with the FMR1 promoter. J Biol Chem. 2001;276(6):4357- 4364.
-
(2001)
J Biol Chem
, vol.276
, Issue.6
, pp. 4357-4364
-
-
Kumari, D.1
Usdin, K.2
-
20
-
-
0032905253
-
Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells
-
DOI 10.1038/8807
-
Coffee B, Zhang F, Warren ST, Reines D. Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells. Nat Genet. 1999;22(1):98-101. (Pubitemid 29214814)
-
(1999)
Nature Genetics
, vol.22
, Issue.1
, pp. 98-101
-
-
Coffee, B.1
Zhang, F.2
Warren, S.T.3
Reines, D.4
-
21
-
-
0034684031
-
Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA
-
Tassone F, Hagerman RJ, Loesch DZ, Lachiewicz A, Taylor AK, Hagerman PJ. Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA. Am J Med Genet. 2000;94(3):232-236.
-
(2000)
Am J Med Genet
, vol.94
, Issue.3
, pp. 232-236
-
-
Tassone, F.1
Hagerman, R.J.2
Loesch, D.Z.3
Lachiewicz, A.4
Taylor, A.K.5
Hagerman, P.J.6
-
22
-
-
0028857169
-
Normal phenotype in two brothers with a full FMR1 mutation
-
Smeets HJ, et al. Normal phenotype in two brothers with a full FMR1 mutation. Hum Mol Genet. 1995;4(11):2103-2108.
-
(1995)
Hum Mol Genet
, vol.4
, Issue.11
, pp. 2103-2108
-
-
Smeets, H.J.1
-
23
-
-
67749101276
-
No change in the age of diagnosis for fragile x syndrome: Findings from a national parent survey
-
Bailey DB Jr, Raspa M, Bishop E, Holiday D. No change in the age of diagnosis for fragile x syndrome: findings from a national parent survey. Pediatrics. 2009;124(2):527-533.
-
(2009)
Pediatrics
, vol.124
, Issue.2
, pp. 527-533
-
-
Bailey Jr., D.B.1
Raspa, M.2
Bishop, E.3
Holiday, D.4
-
24
-
-
85128246040
-
Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: Prevalence and characterization
-
Cordeiro L, Ballinger E, Hagerman R, Hessl D. Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization. J Neurodev Disord. 2011;3(1):57-67.
-
(2011)
J Neurodev Disord
, vol.3
, Issue.1
, pp. 57-67
-
-
Cordeiro, L.1
Ballinger, E.2
Hagerman, R.3
Hessl, D.4
-
25
-
-
33750592235
-
ADHD symptoms in children with FXS
-
DOI 10.1002/ajmg.a.31388
-
Sullivan K, et al. ADHD symptoms in children with FXS. Am J Med Genet A. 2006;140(21):2275-2288. (Pubitemid 44684953)
-
(2006)
American Journal of Medical Genetics, Part A
, vol.140
, Issue.21
, pp. 2275-2288
-
-
Sullivan, K.1
Hatton, D.2
Hammer, J.3
Sideris, J.4
Hooper, S.5
Ornstein, P.6
Bailey Jr., D.7
-
26
-
-
0035863624
-
Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: A quantitative examination
-
DOI 10.1002/1096-8628(20010115)98:2<161::AID-AJMG1025>3.0.CO;2-B
-
Irwin SA, et al. Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination. Am J Med Genet. 2001;98(2):161-167. (Pubitemid 32051804)
-
(2001)
American Journal of Medical Genetics
, vol.98
, Issue.2
, pp. 161-167
-
-
Irwin, S.A.1
Patel, B.2
Idupulapati, M.3
Harris, J.B.4
Crisostomo, R.A.5
Larsen, B.P.6
Kooy, F.7
Willems, P.J.8
Cras, P.9
Kozlowski, P.B.10
Swain, R.A.11
Weiler, I.J.12
Greenough, W.T.13
-
27
-
-
3142590142
-
Informing members of families affected by fragile X syndrome of this diagnosis
-
Carrasco M. [Informing members of families affected by fragile X syndrome of this diagnosis]. Rev Neurol. 2001;33(suppl 1):S37-S41.
-
(2001)
Rev Neurol
, vol.33
, Issue.SUPPL. 1
-
-
Carrasco, M.1
-
28
-
-
77953884301
-
Advances in understanding the molecular basis of FXTAS
-
Garcia-Arocena D, Hagerman PJ. Advances in understanding the molecular basis of FXTAS. Hum Mol Genet. 2010;19(R1):R83-R89.
-
(2010)
Hum Mol Genet
, vol.19
, Issue.R1
-
-
Garcia-Arocena, D.1
Hagerman, P.J.2
-
29
-
-
11144293459
-
The emerging fragile X premutation phenotype: Evidence from the domain of social cognition
-
Cornish KM, et al. The emerging fragile X premutation phenotype: Evidence from the domain of social cognition. Brain Cogn. 2005;57(1):53-60.
-
(2005)
Brain Cogn
, vol.57
, Issue.1
, pp. 53-60
-
-
Cornish, K.M.1
-
30
-
-
32244440359
-
Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: Newly described fronto-subcortical dementia
-
Bacalman S, et al. Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia. J Clin Psychiatry. 2006;67(1):87-94. (Pubitemid 43213287)
-
(2006)
Journal of Clinical Psychiatry
, vol.67
, Issue.1
, 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
-
31
-
-
84860880500
-
Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder
-
Chonchaiya W, et al. Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder. Hum Genet. 2012;131(4):581-589.
-
(2012)
Hum Genet
, vol.131
, Issue.4
, pp. 581-589
-
-
Chonchaiya, W.1
-
32
-
-
0033515496
-
Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study - Preliminary data
-
DOI 10.1002/(SICI)1096-8628(19990402)83:4<322::AID-AJMG17>3.0.CO;2- B
-
Allingham-Hawkins DJ, et al. Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study-preliminary data. Am J Med Genet. 1999;83(4):322-325. (Pubitemid 29162637)
-
(1999)
American Journal of Medical Genetics
, vol.83
, Issue.4
, pp. 322-325
-
-
Allingham-Hawkins, D.J.1
Babul-Hirji, R.2
Chitayat, D.3
Holden, J.J.A.4
Yang, K.T.5
Lee, C.6
Hudson, R.7
Gorwill, H.8
Nolin, S.L.9
Glicksman, A.10
Jenkins, E.C.11
Brown, W.T.12
Howard-Peebles, P.N.13
Becchi, C.14
Cummings, E.15
Fallon, L.16
Seitz, S.17
Black, S.H.18
Vianna-Morgante, A.M.19
Costa, S.S.20
Otto, P.A.21
Mingroni-Netto, R.C.22
Murray, A.23
Webb, J.24
MacSwinney, F.25
Dennis, N.26
Jacobs, P.A.27
Syrrou, M.28
Georgiou, I.29
Patsalis, P.C.30
Giovannucci, U.M.L.31
Guarducci, S.32
Lapi, E.33
Cecconi, A.34
Ricci, U.35
Ricotti, G.36
Biondi, C.37
Scarselli, B.38
Vieri, F.39
more..
-
33
-
-
84870521358
-
Newborn screening in fragile X syndrome: Prevalence and allele distribution of the FMR1 gene
-
Paper presented at: Accessed October 19, 2012
-
Tassone F, et al. Newborn screening in fragile X syndrome: prevalence and allele distribution of the FMR1 gene. Paper presented at: American College of Medical Genetics Annual Clinical Genetics Meeting; July 26, 2012; Charlotte, North Carolina, USA. http://www.fragilex.org/community/international-fragile-x- conference/miami2012/agenda/. Accessed October 19, 2012.
-
American College of Medical Genetics Annual Clinical Genetics Meeting; July 26, 2012; Charlotte, North Carolina, USA
-
-
Tassone, F.1
-
34
-
-
69249118680
-
Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population
-
Fernandez-Carvajal I, Walichiewicz P, Xiaosen X, Pan R, Hagerman PJ, Tassone F. Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population. J Mol Diagn. 2009;11(4):324-329.
-
(2009)
J Mol Diagn
, vol.11
, Issue.4
, pp. 324-329
-
-
Fernandez-Carvajal, I.1
Walichiewicz, P.2
Xiaosen, X.3
Pan, R.4
Hagerman, P.J.5
Tassone, F.6
-
35
-
-
0037084852
-
Premutation and intermediate-size FMR1 alleles in 10 572 males from the general population: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles
-
Dombrowski C, Levesque ML, Morel ML, Rouillard P, Morgan K, Rousseau F. Premutation and intermediate-size FMR1 alleles in 10 572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Hum Mol Genet. 2002;11(4):371-378. (Pubitemid 34213610)
-
(2002)
Human Molecular Genetics
, vol.11
, Issue.4
, pp. 371-378
-
-
Dombrowski, C.1
Levesque, S.2
Morel, M.L.3
Rouillard, P.4
Morgan, K.5
Rousseau, F.6
-
36
-
-
78650937072
-
Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056
-
Jacquemont S, 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):64ra61.
-
(2011)
Sci Transl Med
, vol.3
, Issue.64
-
-
Jacquemont, S.1
-
37
-
-
65949096495
-
A pilot open label, single dose trial of fenobam in adults with fragile X syndrome
-
Berry-Kravis E, et al. A pilot open label, single dose trial of fenobam in adults with fragile X syndrome. J Med Genet. 2009;46(4):266-271.
-
(2009)
J Med Genet
, vol.46
, Issue.4
, pp. 266-271
-
-
Berry-Kravis, E.1
-
38
-
-
38749141432
-
A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations
-
DOI 10.2353/jmoldx.2008.070073
-
Tassone F, Pan R, Amiri K, Taylor AK, Hagerman PJ. A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. J Mol Diagn. 2008;10(1):43-49. (Pubitemid 351184834)
-
(2008)
Journal of Molecular Diagnostics
, vol.10
, Issue.1
, pp. 43-49
-
-
Tassone, F.1
Pan, R.2
Amiri, K.3
Taylor, A.K.4
Hagerman, P.J.5
-
39
-
-
77649221039
-
A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome
-
Filipovic-Sadic S, et al. A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome. Clin Chem. 2010;56(3):399-408.
-
(2010)
Clin Chem
, vol.56
, Issue.3
, pp. 399-408
-
-
Filipovic-Sadic, S.1
-
40
-
-
77954669409
-
Fragile X syndrome: Is now the time for population screening?
-
Hantash FM. Fragile X syndrome: is now the time for population screening? MLO Med Lab Obs. 2010;42(5):20, 22.
-
(2010)
MLO Med Lab Obs
, vol.42
, Issue.5
-
-
Hantash, F.M.1
-
41
-
-
77954378964
-
A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis
-
Lyon E, et al. A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis. J Mol Diagn. 2010;12(4):505-511.
-
(2010)
J Mol Diagn
, vol.12
, Issue.4
, pp. 505-511
-
-
Lyon, E.1
-
42
-
-
77957226059
-
Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome
-
Godler DE, Slater HR, Amor D, Loesch DZ. Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome. Genet Med. 2010;12(9):595.
-
(2010)
Genet Med
, vol.12
, Issue.9
, pp. 595
-
-
Godler, D.E.1
Slater, H.R.2
Amor, D.3
Loesch, D.Z.4
-
43
-
-
77955177288
-
Commentary on population screening for fragile X syndrome
-
Coffee B. Commentary on population screening for fragile X syndrome. Genet Med. 2010;12(7):411-412.
-
(2010)
Genet Med
, vol.12
, Issue.7
, pp. 411-412
-
-
Coffee, B.1
-
44
-
-
78650523084
-
Fragile X syndrome prenatal diagnosis: Parental attitudes and reproductive responses
-
Xuncla M, et al. Fragile X syndrome prenatal diagnosis: parental attitudes and reproductive responses. Reprod Biomed Online. 2010;21(4):560-565.
-
(2010)
Reprod Biomed Online
, vol.21
, Issue.4
, pp. 560-565
-
-
Xuncla, M.1
-
45
-
-
77956633971
-
Autism spectrum disorder in children and adolescents with fragile X syndrome: Within-syndrome differences and age-related changes
-
McDuffie A, et al. Autism spectrum disorder in children and adolescents with fragile X syndrome: within-syndrome differences and age-related changes. Am J Intellect Dev Disabil. 2010;115(4):307-326.
-
(2010)
Am J Intellect Dev Disabil
, vol.115
, Issue.4
, pp. 307-326
-
-
McDuffie, A.1
-
46
-
-
33748295575
-
Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP
-
DOI 10.1002/ajmg.a.31286
-
Hatton DD, et al. Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP. Am J Med Genet A. 2006;140A(17):1804-1813. (Pubitemid 44330644)
-
(2006)
American Journal of Medical Genetics, Part A
, vol.140
, Issue.17
, pp. 1804-1813
-
-
Hatton, D.D.1
Sideris, J.2
Skinner, M.3
Mankowski, J.4
Bailey Jr., D.B.5
Roberts, J.6
Mirrett, P.7
-
48
-
-
49649096645
-
Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder
-
Garcia-Nonell C, et al. Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder. Am J Med Genet A. 2008;146A(15):1911-1916.
-
(2008)
Am J Med Genet A
, vol.146 A
, Issue.15
, pp. 1911-1916
-
-
Garcia-Nonell, C.1
-
49
-
-
82455212924
-
Cognition and lobar morphology in full mutation boys with fragile X syndrome
-
Meguid NA, et al. Cognition and lobar morphology in full mutation boys with fragile X syndrome. Brain Cogn. 2012;78(1):74-84.
-
(2012)
Brain Cogn
, vol.78
, Issue.1
, pp. 74-84
-
-
Meguid, N.A.1
-
50
-
-
84974074999
-
Social influences on early-developing biological and behavioral systems related to risk for affective disorder
-
Cicchetti D, Tucker, eds.
-
Dawson G, Hessl D, Frey K. Social influences on early-developing biological and behavioral systems related to risk for affective disorder. In: Cicchetti D, Tucker, eds. Special Issue of Development and Psychopathology on "Neural plasticity, sensitive periods and psychopathology." 1995;6:759-780.
-
(1995)
Special Issue of Development and Psychopathology on "Neural Plasticity, Sensitive Periods and Psychopathology"
, vol.6
, pp. 759-780
-
-
Dawson, G.1
Hessl, D.2
Frey, K.3
-
51
-
-
74049153754
-
Randomized, controlled trial of an intervention for toddlers with autism: The Early Start Denver Model
-
Dawson G, et al. Randomized, controlled trial of an intervention for toddlers with autism: the Early Start Denver Model. Pediatrics. 2010;125(1):e17-e23.
-
(2010)
Pediatrics
, vol.125
, Issue.1
-
-
Dawson, G.1
-
52
-
-
51549108502
-
The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP
-
Napoli I, et al. The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP. Cell. 2008;134(6):1042-1054.
-
(2008)
Cell
, vol.134
, Issue.6
, pp. 1042-1054
-
-
Napoli, I.1
-
53
-
-
34547731978
-
Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways
-
DOI 10.1093/hmg/ddm116
-
Nishimura Y, et al. Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways. Hum Mol Genet. 2007;16(14):1682-1698. (Pubitemid 47241828)
-
(2007)
Human Molecular Genetics
, vol.16
, Issue.14
, pp. 1682-1698
-
-
Nishimura, Y.1
Martin, C.L.2
Vazquez-Lopez, A.3
Spence, S.J.4
Alvarez-Retuerto, A.I.5
Sigman, M.6
Steindler, C.7
Pellegrini, S.8
Schanen, N.C.9
Warren, S.T.10
Geschwind, D.H.11
-
54
-
-
77952686118
-
A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder
-
van der Zwaag B, et al. A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder. Am J Med Genet B Neuropsychiatr Genet. 2010;153B(4):960-966.
-
(2010)
Am J Med Genet B Neuropsychiatr Genet
, vol.153 B
, Issue.4
, pp. 960-966
-
-
Van Der Zwaag, B.1
-
55
-
-
84859066832
-
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders
-
Leblond CS, et al. Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet. 2012;8(2):e1002521.
-
(2012)
PLoS Genet
, vol.8
, Issue.2
-
-
Leblond, C.S.1
-
56
-
-
33750349024
-
Evidence for multiple loci from a genome scan of autism kindreds
-
Schellenberg GD, et al. Evidence for multiple loci from a genome scan of autism kindreds. Mol Psychiatry. 2006;11(11):1049-1060, 1979.
-
(2006)
Mol Psychiatry
, vol.11
, Issue.11
-
-
Schellenberg, G.D.1
-
57
-
-
70450208984
-
Deregulation of EIF4E: A novel mechanism for autism
-
Neves-Pereira M, et al. Deregulation of EIF4E: a novel mechanism for autism. J Med Genet. 2009;46(11):759-765.
-
(2009)
J Med Genet
, vol.46
, Issue.11
, pp. 759-765
-
-
Neves-Pereira, M.1
-
58
-
-
79960779323
-
FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism
-
Darnell JC, et al. FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism. Cell. 2011;146(2):247-261.
-
(2011)
Cell
, vol.146
, Issue.2
, pp. 247-261
-
-
Darnell, J.C.1
-
59
-
-
0029816723
-
The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals
-
Eberhart DE, Malter HE, Feng Y, Warren ST. The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals. Hum Mol Genet. 1996;5(8):1083-1091. (Pubitemid 26318545)
-
(1996)
Human Molecular Genetics
, vol.5
, Issue.8
, pp. 1083-1091
-
-
Eberhart, D.E.1
Malter, H.E.2
Feng, Y.3
Warren, S.T.4
-
60
-
-
0030051618
-
Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of fmr1 protein isoforms
-
DOI 10.1093/hmg/5.1.95
-
Sittler A, Devys D, Weber C, Mandel JL. Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of fmr1 protein isoforms. Hum Mol Genet. 1996;5(1):95-102. (Pubitemid 26018279)
-
(1996)
Human Molecular Genetics
, vol.5
, Issue.1
, pp. 95-102
-
-
Sittler, A.1
Devys, D.2
Weber, C.3
Mandel, J.-L.4
-
61
-
-
17844372504
-
From mRNP trafficking to spine dysmorphogenesis: The roots of fragile X syndrome
-
DOI 10.1038/nrn1667
-
Bagni C, Greenough WT. From mRNP trafficking to spine dysmorphogenesis: the roots of fragile X syndrome. Nat Rev Neurosci. 2005;6(5):376-387. (Pubitemid 40593483)
-
(2005)
Nature Reviews Neuroscience
, vol.6
, Issue.5
, pp. 376-387
-
-
Bagni, C.1
Greenough, W.T.2
-
62
-
-
84858111150
-
Molecular and Cellular Aspects of Mental Retardation in the Fragile X Syndrome: From Gene Mutation/s to Spine Dysmorphogenesis
-
De Rubeis S, Fernandez E, Buzzi A, Di Marino D, Bagni C. Molecular and Cellular Aspects of Mental Retardation in the Fragile X Syndrome: From Gene Mutation/s to Spine Dysmorphogenesis. Adv Exp Med Biol. 2012;970:517-551.
-
(2012)
Adv Exp Med Biol
, vol.970
, pp. 517-551
-
-
De Rubeis, S.1
Fernandez, E.2
Buzzi, A.3
Di Marino, D.4
Bagni, C.5
-
63
-
-
84862803170
-
New perspectives on the biology of fragile X syndrome
-
Wang T, Bray SM, Warren ST. New perspectives on the biology of fragile X syndrome. Curr Opin Genet Dev. 2012;22(3):256-263.
-
(2012)
Curr Opin Genet Dev
, vol.22
, Issue.3
, pp. 256-263
-
-
Wang, T.1
Bray, S.M.2
Warren, S.T.3
-
65
-
-
18044379515
-
Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome
-
DOI 10.1016/S0092-8674(01)00568-2
-
Brown V, et al. Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome. Cell. 2001;107(4):477-487. (Pubitemid 33152783)
-
(2001)
Cell
, vol.107
, Issue.4
, pp. 477-487
-
-
Brown, V.1
Jin, P.2
Ceman, S.3
Darnell, J.C.4
O'Donnell, W.T.5
Tenenbaum, S.A.6
Jin, X.7
Feng, Y.8
Wilkinson, K.D.9
Keene, J.D.10
Darnell, R.B.11
Warren, S.T.12
-
66
-
-
0042624778
-
The fragile X mental retardation protein binds and regulates a novel class of mRNAs containing u rich target sequences
-
DOI 10.1016/S0306-4522(03)00406-8
-
Chen L, Yun SW, Seto J, Liu W, Toth M. The fragile X mental retardation protein binds and regulates a novel class of mRNAs containing U rich target sequences. Neuroscience. 2003;120(4):1005-1017. (Pubitemid 36969801)
-
(2003)
Neuroscience
, vol.120
, Issue.4
, pp. 1005-1017
-
-
Chen, L.1
Yun, S.-W.2
Seto, J.3
Liu, W.4
Toth, M.5
-
67
-
-
0037421721
-
RNA cargoes associating with FMRP reveal deficits in cellular functioning in Fmr1 null mice
-
DOI 10.1016/S0896-6273(03)00034-5
-
Miyashiro KY, et al. RNA cargoes associating with FMRP reveal deficits in cellular functioning in Fmr1 null mice. Neuron. 2003;37(3):417-431. (Pubitemid 36183364)
-
(2003)
Neuron
, vol.37
, Issue.3
, pp. 417-431
-
-
Miyashiro, K.Y.1
Beckel-Mitchener, A.2
Purk, T.P.3
Becker, K.G.4
Barret, T.5
Liu, L.6
Carbonetto, S.7
Weiler, I.J.8
Greenough, W.T.9
Eberwine, J.10
-
68
-
-
0028246435
-
Fmr1 knockout mice: A model to study fragile X mental retardation
-
Bakker CE, et al. FMR1 knockout mice: A model to study fragile X mental retardation. Cell. 1994;78(1):23-33. (Pubitemid 24228297)
-
(1994)
Cell
, vol.78
, Issue.1
, pp. 23-33
-
-
Bakker, C.E.1
Verheij, C.2
Willemsen, R.3
Van Der, H.R.4
Oerlemans, F.5
Vermey, M.6
Bygrave, A.7
Hoogeveen, A.T.8
Oostra, B.A.9
Reyniers, E.10
De Boulle, K.11
D'Hooge, R.12
Cras, P.13
Van Velzen, D.14
Nagels, G.15
Martin, J.-J.16
De Deyn, P.P.17
Darby, J.K.18
Willems, P.J.19
-
69
-
-
0037423293
-
The Fragile X syndrome protein FMRP associates with BC1 RNA and regulates the translation of specific mRNAs at synapses
-
DOI 10.1016/S0092-8674(03)00079-5
-
Zalfa F, et al. The fragile X syndrome protein FMRP associates with BC1 RNA and regulates the translation of specific mRNAs at synapses. Cell. 2003;112(3):317-327. (Pubitemid 36183653)
-
(2003)
Cell
, vol.112
, Issue.3
, pp. 317-327
-
-
Zalfa, F.1
Giorgi, M.2
Primerano, B.3
Moro, A.4
Di, P.A.5
Reis, S.6
Oostra, B.7
Bagni, C.8
-
70
-
-
34247485947
-
A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability
-
DOI 10.1038/nn1893, PII NN1893
-
Zalfa F, et al. A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability. Nat Neurosci. 2007;10(5):578-587. (Pubitemid 46652449)
-
(2007)
Nature Neuroscience
, vol.10
, Issue.5
, pp. 578-587
-
-
Zalfa, F.1
Eleuteri, B.2
Dickson, K.S.3
Mercaldo, V.4
De Rubeis, S.5
Di, P.A.6
Tabolacci, E.7
Chiurazzi, P.8
Neri, G.9
Grant, S.G.N.10
Bagni, C.11
-
71
-
-
34249064936
-
Dysregulated metabotropic glutamate receptor-dependent translation of AMPA receptor and postsynaptic density-95 mRNAs at synapses in a mouse model of fragile X syndrome
-
DOI 10.1523/JNEUROSCI.0937-07.2007
-
Muddashetty RS, Kelic S, Gross C, Xu M, Bassell GJ. Dysregulated metabotropic glutamate receptor-dependent translation of AMPA receptor and postsynaptic density-95 mRNAs at synapses in a mouse model of fragile X syndrome. J Neurosci. 2007;27(20):5338-5348. (Pubitemid 46790157)
-
(2007)
Journal of Neuroscience
, vol.27
, Issue.20
, pp. 5338-5348
-
-
Muddashetty, R.S.1
Kelic, S.2
Gross, C.3
Xu, M.4
Bassell, G.J.5
-
72
-
-
49649106751
-
S6K1 phosphorylates and regulates fragile X mental retardation protein (FMRP) with the neuronal protein synthesis-dependent mammalian target of rapamycin (mTOR) signaling cascade
-
Narayanan U, et al. S6K1 phosphorylates and regulates fragile X mental retardation protein (FMRP) with the neuronal protein synthesis-dependent mammalian target of rapamycin (mTOR) signaling cascade. J Biol Chem. 2008;283(27):18478-18482.
-
(2008)
J Biol Chem
, vol.283
, Issue.27
, pp. 18478-18482
-
-
Narayanan, U.1
-
73
-
-
33947195786
-
FMRP mediates mGluR5-dependent translation of amyloid precursor protein
-
Westmark CJ, Malter JS. FMRP mediates mGluR5-dependent translation of amyloid precursor protein. PLoS Biol. 2007;5(3):e52.
-
(2007)
PLoS Biol
, vol.5
, Issue.3
-
-
Westmark, C.J.1
Malter, J.S.2
-
74
-
-
84861401661
-
BC1-FMRP interaction is modulated by 2′-O-methylation: RNA-binding activity of the tudor domain and translational regulation at synapses
-
Lacoux C, et al. BC1-FMRP interaction is modulated by 2′-O-methylation: RNA-binding activity of the tudor domain and translational regulation at synapses. Nucleic Acids Res. 2012;40(9):4086-4096.
-
(2012)
Nucleic Acids Res
, vol.40
, Issue.9
, pp. 4086-4096
-
-
Lacoux, C.1
-
75
-
-
3042647610
-
The mGluR theory of fragile X mental retardation
-
DOI 10.1016/j.tins.2004.04.009, PII S0166223604001328
-
Bear MF, Huber KM, Warren ST. The mGluR theory of fragile X mental retardation. Trends Neurosci. 2004;27(7):370-377. (Pubitemid 38829251)
-
(2004)
Trends in Neurosciences
, vol.27
, Issue.7
, pp. 370-377
-
-
Bear, M.F.1
Huber, K.M.2
Warren, S.T.3
-
76
-
-
42649085026
-
Abnormal Striatal GABA Transmission in the Mouse Model for the Fragile X Syndrome
-
DOI 10.1016/j.biopsych.2007.09.008, PII S0006322307008839
-
Centonze D, et al. Abnormal striatal GABA transmission in the mouse model for the fragile X syndrome. Biol Psychiatry. 2008;63(10):963-973. (Pubitemid 351602272)
-
(2008)
Biological Psychiatry
, vol.63
, Issue.10
, pp. 963-973
-
-
Centonze, D.1
Rossi, S.2
Mercaldo, V.3
Napoli, I.4
Ciotti, M.T.5
De Chiara, V.6
Musella, A.7
Prosperetti, C.8
Calabresi, P.9
Bernardi, G.10
Bagni, C.11
-
77
-
-
80052650281
-
Genetic controls balancing excitatory and inhibitory synaptogenesis in neurodevelopmental disorder models
-
Gatto CL, Broadie K. Genetic controls balancing excitatory and inhibitory synaptogenesis in neurodevelopmental disorder models. Front Synaptic Neurosci. 2010;2:4.
-
(2010)
Front Synaptic Neurosci
, vol.2
, pp. 4
-
-
Gatto, C.L.1
Broadie, K.2
-
78
-
-
0037188502
-
Altered synaptic plasticity in a mouse model of fragile X mental retardation
-
DOI 10.1073/pnas.122205699
-
Huber KM, Gallagher SM, Warren ST, Bear MF. Altered synaptic plasticity in a mouse model of fragile X mental retardation. Proc Natl Acad Sci U S A. 2002;99(11):7746-7750. (Pubitemid 34568762)
-
(2002)
Proceedings of the National Academy of Sciences of the United States of America
, vol.99
, Issue.11
, pp. 7746-7750
-
-
Huber, K.M.1
Gallagher, S.M.2
Warren, S.T.3
Bear, M.F.4
-
79
-
-
34848890329
-
Fragile X mental retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptors
-
DOI 10.1073/pnas.0707484104
-
Nakamoto M, Nalavadi V, Epstein MP, Narayanan U, Bassell GJ, Warren ST. Fragile X mental retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptors. Proc Natl Acad Sci U S A. 2007;104(39):15537-15542. (Pubitemid 47502952)
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, Issue.39
, pp. 15537-15542
-
-
Nakamoto, M.1
Nalavadi, V.2
Epstein, M.P.3
Narayanan, U.4
Bassell, G.J.5
Warren, S.T.6
-
80
-
-
67649427508
-
Downregulation of tonic GABAergic inhibition in a mouse model of fragile X syndrome
-
Curia G, Papouin T, Seguela P, Avoli M. Downregulation of tonic GABAergic inhibition in a mouse model of fragile X syndrome. Cereb Cortex. 2009;19(7):1515-1520.
-
(2009)
Cereb Cortex
, vol.19
, Issue.7
, pp. 1515-1520
-
-
Curia, G.1
Papouin, T.2
Seguela, P.3
Avoli, M.4
-
81
-
-
70349909566
-
Fragile X mental retardation protein is required for chemically-induced long-term potentiation of the hippocampus in adult mice
-
Shang Y, Wang H, Mercaldo V, Li X, Chen T, Zhuo M. Fragile X mental retardation protein is required for chemically-induced long-term potentiation of the hippocampus in adult mice. J Neurochem. 2009;111(3):635-646.
-
(2009)
J Neurochem
, vol.111
, Issue.3
, pp. 635-646
-
-
Shang, Y.1
Wang, H.2
Mercaldo, V.3
Li, X.4
Chen, T.5
Zhuo, M.6
-
82
-
-
77954858360
-
Characterization and reversal of synaptic defects in the amygdala in a mouse model of fragile X syndrome
-
Suvrathan A, Hoeffer CA, Wong H, Klann E, Chattarji S. Characterization and reversal of synaptic defects in the amygdala in a mouse model of fragile X syndrome. Proc Natl Acad Sci U S A. 2010;107(25):11591-11596.
-
(2010)
Proc Natl Acad Sci U S A
, vol.107
, Issue.25
, pp. 11591-11596
-
-
Suvrathan, A.1
Hoeffer, C.A.2
Wong, H.3
Klann, E.4
Chattarji, S.5
-
83
-
-
84856115427
-
NMDA receptor hypofunction in the dentate gyrus and impaired context discrimination in adult Fmr1 knockout mice
-
Eadie BD, Cushman J, Kannangara TS, Fanselow MS, Christie BR. NMDA receptor hypofunction in the dentate gyrus and impaired context discrimination in adult Fmr1 knockout mice. Hippocampus. 2012;22(2):241-254.
-
(2012)
Hippocampus
, vol.22
, Issue.2
, pp. 241-254
-
-
Eadie, B.D.1
Cushman, J.2
Kannangara, T.S.3
Fanselow, M.S.4
Christie, B.R.5
-
84
-
-
78650215787
-
Fragile X mice: Reduced long-term potentiation and N-Methyl-D-Aspartate receptor-mediated neurotransmission in dentate gyrus
-
Yun SH, Trommer BL. Fragile X mice: reduced long-term potentiation and N-Methyl-D-Aspartate receptor-mediated neurotransmission in dentate gyrus. J Neurosci Res. 2011;89(2):176-182.
-
(2011)
J Neurosci Res
, vol.89
, Issue.2
, pp. 176-182
-
-
Yun, S.H.1
Trommer, B.L.2
-
85
-
-
78650621664
-
BDNF and TrkB in neuronal differentiation of Fmr1-knockout mouse
-
Louhivuori V, et al. BDNF and TrkB in neuronal differentiation of Fmr1-knockout mouse. Neurobiol Dis. 2011;41(2):469-480.
-
(2011)
Neurobiol Dis
, vol.41
, Issue.2
, pp. 469-480
-
-
Louhivuori, V.1
-
86
-
-
84857296975
-
Dephosphorylation-induced ubiquitination and degradation of FMRP in dendrites: A role in immediate early mGluR-stimulated translation
-
Nalavadi VC, Muddashetty RS, Gross C, Bassell GJ. Dephosphorylation- induced ubiquitination and degradation of FMRP in dendrites: a role in immediate early mGluR-stimulated translation. J Neurosci. 2012;32(8):2582-2587.
-
(2012)
J Neurosci
, vol.32
, Issue.8
, pp. 2582-2587
-
-
Nalavadi, V.C.1
Muddashetty, R.S.2
Gross, C.3
Bassell, G.J.4
-
87
-
-
84859420878
-
Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome
-
Hoeffer CA, et al. Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome. Genes Brain Behav. 2012;11(3):332-341.
-
(2012)
Genes Brain Behav
, vol.11
, Issue.3
, pp. 332-341
-
-
Hoeffer, C.A.1
-
88
-
-
41949135731
-
Aberrant early-phase ERK inactivation impedes neuronal function in fragile X syndrome
-
DOI 10.1073/pnas.0800257105
-
Kim SH, Markham JA, Weiler IJ, Greenough WT. Aberrant early-phase ERK inactivation impedes neuronal function in fragile X syndrome. Proc Natl Acad Sci U S A. 2008;105(11):4429-4434. (Pubitemid 351754397)
-
(2008)
Proceedings of the National Academy of Sciences of the United States of America
, vol.105
, Issue.11
, pp. 4429-4434
-
-
Soong, H.K.1
Markham, J.A.2
Weiler, I.J.3
Greenough, W.T.4
-
89
-
-
74949102875
-
Dysregulation of mTOR signaling in fragile X syndrome
-
Sharma A, et al. Dysregulation of mTOR signaling in fragile X syndrome. J Neurosci. 2010;30(2):694-702.
-
(2010)
J Neurosci
, vol.30
, Issue.2
, pp. 694-702
-
-
Sharma, A.1
-
90
-
-
37049032616
-
Correction of Fragile X Syndrome in Mice
-
DOI 10.1016/j.neuron.2007.12.001, PII S0896627307009646
-
Dolen G, et al. Correction of fragile X syndrome in mice. Neuron. 2007;56(6):955-962. (Pubitemid 350251119)
-
(2007)
Neuron
, vol.56
, Issue.6
, pp. 955-962
-
-
Dolen, G.1
Osterweil, E.2
Rao, B.S.S.3
Smith, G.B.4
Auerbach, B.D.5
Chattarji, S.6
Bear, M.F.7
-
91
-
-
80055044964
-
Reversal of fragile X phenotypes by manipulation of AbetaPP/Abeta levels in Fmr1KO mice
-
Westmark CJ, et al. Reversal of fragile X phenotypes by manipulation of AbetaPP/Abeta levels in Fmr1KO mice. PLoS One. 2011;6(10):e26549.
-
(2011)
PLoS One
, vol.6
, Issue.10
-
-
Westmark, C.J.1
-
92
-
-
82555196668
-
Mutations causing syndromic autism define an axis of synaptic pathophysiology
-
Auerbach BD, Osterweil EK, Bear MF. Mutations causing syndromic autism define an axis of synaptic pathophysiology. Nature. 2011;480(7375):63-68.
-
(2011)
Nature
, vol.480
, Issue.7375
, pp. 63-68
-
-
Auerbach, B.D.1
Osterweil, E.K.2
Bear, M.F.3
-
93
-
-
34547433543
-
Inhibition of p21-activated kinase rescues symptoms of fragile X syndrome in mice
-
DOI 10.1073/pnas.0705003104
-
Hayashi ML, et al. Inhibition of p21-activated kinase rescues symptoms of fragile X syndrome in mice. Proc Natl Acad Sci U S A. 2007;104(27):11489-11494. (Pubitemid 47175167)
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, Issue.27
, pp. 11489-11494
-
-
Hayashi, M.L.1
Rao, B.S.S.2
Seo, J.-S.3
Choi, H.-S.4
Dolan, B.M.5
Choi, S.-Y.6
Chattarji, S.7
Tonegawa, S.8
-
94
-
-
84863333644
-
Genetic manipulation of STEP reverses behavioral abnormalities in a fragile X syndrome mouse model
-
Goebel-Goody SM, Wilson-Wallis ED, Royston S, Tagliatela SM, Naegele JR, Lombroso PJ. Genetic manipulation of STEP reverses behavioral abnormalities in a fragile X syndrome mouse model. Genes Brain Behav. 2012;11(5):586-600.
-
(2012)
Genes Brain Behav
, vol.11
, Issue.5
, pp. 586-600
-
-
Goebel-Goody, S.M.1
Wilson-Wallis, E.D.2
Royston, S.3
Tagliatela, S.M.4
Naegele, J.R.5
Lombroso, P.J.6
-
95
-
-
0031985868
-
In vitro reactivation of the FMR1 gene involved in fragile X syndrome
-
DOI 10.1093/hmg/7.1.109
-
Chiurazzi P, Pomponi MG, Willemsen R, Oostra BA, Neri G. In vitro reactivation of the FMR1 gene involved in fragile X syndrome. Hum Mol Genet. 1998;7(1):109-113. (Pubitemid 28040744)
-
(1998)
Human Molecular Genetics
, vol.7
, Issue.1
, pp. 109-113
-
-
Chiurazzi, P.1
Pomponi, M.G.2
Willemsen, R.3
Oostra, B.A.4
Neri, G.5
-
96
-
-
0032741429
-
Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene
-
DOI 10.1093/hmg/8.12.2317
-
Chiurazzi P, Pomponi MG, Pietrobono R, Bakker CE, Neri G, Oostra BA. Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene. Hum Mol Genet. 1999;8(12):2317-2323. (Pubitemid 29525348)
-
(1999)
Human Molecular Genetics
, vol.8
, Issue.12
, pp. 2317-2323
-
-
Chiurazzi, P.1
Pomponi, M.G.2
Pietrobono, R.3
Bakker, C.E.4
Neri, G.5
Oostra, B.A.6
-
97
-
-
18844398832
-
Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments
-
DOI 10.1038/sj.ejhg.5201393
-
Tabolacci E, Pietrobono R, Moscato U, Oostra BA, Chiurazzi P, Neri G. Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments. Eur J Hum Genet. 2005;13(5):641-648. (Pubitemid 40691406)
-
(2005)
European Journal of Human Genetics
, vol.13
, Issue.5
, pp. 641-648
-
-
Tabolacci, E.1
Pietrobono, R.2
Moscato, U.3
Oostra, B.A.4
Chiurazzi, P.5
Neri, G.6
-
98
-
-
0028244685
-
Butyrate and acetyl-carnitine inhibit the cytogenetic expression of the fragile X in vitro
-
DOI 10.1002/ajmg.1320510428
-
Pomponi MG, Neri G. Butyrate and acetyl-carnitine inhibit the cytogenetic expression of the fragile X in vitro. Am J Med Genet. 1994;51(4):447-450. (Pubitemid 24197720)
-
(1994)
American Journal of Medical Genetics
, vol.51
, Issue.4
, pp. 447-450
-
-
Pomponi, M.G.1
Neri, G.2
-
99
-
-
0032748826
-
Double-blind, placebo-controlled study of L-acetylcarnitine for the treatment of hyperactive behavior in fragile X syndrome
-
Torrioli MG, et al. Double-blind, placebo-controlled study of L-acetylcarnitine for the treatment of hyperactive behavior in fragile X syndrome. Am J Med Genet. 1999;87(4):366-368.
-
(1999)
Am J Med Genet
, vol.87
, Issue.4
, pp. 366-368
-
-
Torrioli, M.G.1
-
100
-
-
41849117708
-
A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys
-
DOI 10.1002/ajmg.a.32268
-
Torrioli MG, et al. A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys. Am J Med Genet A. 2008;146(7):803-812. (Pubitemid 351499783)
-
(2008)
American Journal of Medical Genetics, Part A
, vol.146
, Issue.7
, pp. 803-812
-
-
Torrioli, M.G.1
Vernacotola, S.2
Peruzzi, L.3
Tabolacci, E.4
Mila, M.5
Militerni, R.6
Musumeci, S.7
Ramos, F.J.8
Frontera, M.9
Sorge, G.10
Marzullo, E.11
Romeo, G.12
Vallee, L.13
Veneselli, E.14
Cocchi, E.15
Garbarino, E.16
Moscato, U.17
Chiurazzi, P.18
D'Iddio, S.19
Calvani, M.20
Neri, G.21
more..
-
101
-
-
0035965343
-
Histone deacetylase is a direct target of valproic acid, a potent anticonvulsant, mood stabilizer, and teratogen
-
Phiel CJ, Zhang F, Huang EY, Guenther MG, Lazar MA, Klein PS. Histone deacetylase is a direct target of valproic acid, a potent anticonvulsant, mood stabilizer, and teratogen. J Biol Chem. 2001;276(39):36734-36741.
-
(2001)
J Biol Chem
, vol.276
, Issue.39
, pp. 36734-36741
-
-
Phiel, C.J.1
Zhang, F.2
Huang, E.Y.3
Guenther, M.G.4
Lazar, M.A.5
Klein, P.S.6
-
102
-
-
0042346416
-
Valproate induces replication-independent active DNA demethylation
-
DOI 10.1074/jbc.M303740200
-
Detich N, Bovenzi V, Szyf M. Valproate induces replication-independent active DNA demethylation. J Biol Chem. 2003;278(30):27586-27592. (Pubitemid 36899944)
-
(2003)
Journal of Biological Chemistry
, vol.278
, Issue.30
, pp. 27586-27592
-
-
Detich, N.1
Bovenzi, V.2
Szyf, M.3
-
103
-
-
55749110434
-
Modest reactivation of the mutant FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylation
-
Tabolacci E, et al. Modest reactivation of the mutant FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylation. Pharmacogenet Genomics. 2008;18(8):738-741.
-
(2008)
Pharmacogenet Genomics
, vol.18
, Issue.8
, pp. 738-741
-
-
Tabolacci, E.1
-
104
-
-
77952785513
-
Treatment with valproic acid ameliorates ADHD symptoms in fragile X syndrome boys
-
Torrioli M, et al. Treatment with valproic acid ameliorates ADHD symptoms in fragile X syndrome boys. Am J Med Genet A. 2010;152A(6):1420-1427.
-
(2010)
Am J Med Genet A
, vol.152 A
, Issue.6
, pp. 1420-1427
-
-
Torrioli, M.1
-
105
-
-
33750962399
-
Effect of CX516, an AMPA-modulating compound, on cognition and behavior in fragile X syndrome: A controlled trial
-
DOI 10.1089/cap.2006.16.525
-
Berry-Kravis E, et al. Effect of CX516, an AMPA-modulating compound, on cognition and behavior in fragile X syndrome: a controlled trial. J Child Adolesc Psychopharmacol. 2006;16(5):525-540. (Pubitemid 44737208)
-
(2006)
Journal of Child and Adolescent Psychopharmacology
, vol.16
, Issue.5
, pp. 525-540
-
-
Berry-Kravis, E.1
Krause, S.E.2
Block, S.S.3
Guter, S.4
Wuu, J.5
Leurgans, S.6
Decle, P.7
Potanos, K.8
Cook, E.9
Salt, J.10
Maino, D.11
Weinberg, D.12
Lara, R.13
Jardini, T.14
Cogswell, J.15
Johnson, S.A.16
Hagerman, R.17
-
106
-
-
24344457816
-
Suppression of two major Fragile X Syndrome mouse model phenotypes by the mGluR5 antagonist MPEP
-
DOI 10.1016/j.neuropharm.2005.06.004, PII S0028390805002170
-
Yan QJ, Rammal M, Tranfaglia M, Bauchwitz RP. Suppression of two major Fragile X Syndrome mouse model phenotypes by the mGluR5 antagonist MPEP. Neuropharmacology. 2005;49(7):1053-1066. (Pubitemid 41503304)
-
(2005)
Neuropharmacology
, vol.49
, Issue.7
, pp. 1053-1066
-
-
Yan, Q.J.1
Rammal, M.2
Tranfaglia, M.3
Bauchwitz, R.P.4
-
107
-
-
79955625469
-
Early continuous inhibition of group 1 mGlu signaling partially rescues dendritic spine abnormalities in the Fmr1 knockout mouse model for fragile X syndrome
-
Su T, et al. Early continuous inhibition of group 1 mGlu signaling partially rescues dendritic spine abnormalities in the Fmr1 knockout mouse model for fragile X syndrome. Psychopharmacology (Berl). 2011;215(2):291-300.
-
(2011)
Psychopharmacology (Berl)
, vol.215
, Issue.2
, pp. 291-300
-
-
Su, T.1
-
108
-
-
84859628864
-
Chronic Pharmacological mGlu5 Inhibition Corrects Fragile X in Adult Mice
-
Michalon A, et al. Chronic Pharmacological mGlu5 Inhibition Corrects Fragile X in Adult Mice. Neuron. 2012;74(1):49-56.
-
(2012)
Neuron
, vol.74
, Issue.1
, pp. 49-56
-
-
Michalon, A.1
-
109
-
-
0019957859
-
Treatment of anxiety using fenobam (a nonbenzodiazepine) in a double-blind standard (diazepam) placebo-controlled study
-
Pecknold JC, McClure DJ, Appeltauer L, Wrzesinski L, Allan T. Treatment of anxiety using fenobam (a nonbenzodiazepine) in a double-blind standard (diazepam) placebo-controlled study. J Clin Psychopharmacol. 1982;2(2):129-133. (Pubitemid 12025672)
-
(1982)
Journal of Clinical Psychopharmacology
, vol.2
, Issue.2
, pp. 129-133
-
-
Pecknold, J.C.1
McClure, D.J.2
Appeltauer, L.3
-
110
-
-
84870498255
-
-
Novartis. NIH Web site. Updated May 5, 2010. Updated October 19, 2012
-
Novartis. Efficacy, Safety and Tolerability of AFQ056 in Fragile X Patients. NIH Web site. http://clinicaltrials.gov/ct2/show/NCT00718341. Updated May 5, 2010. Updated October 19, 2012.
-
Efficacy, Safety and Tolerability of AFQ056 in Fragile X Patients
-
-
-
111
-
-
84870496432
-
-
Hoffmann-La Roche. NIH Web site. Updated December 5, 2011. Accessed October 19, 2012
-
Hoffmann-La Roche. A Study With RO4917523 in Patients With Fragile X Syndrome. NIH Web site. http://clinicaltrials.gov/ct2/show/NCT01015430?term= RO4917523&rank=4. Updated December 5, 2011. Accessed October 19, 2012.
-
A Study with RO4917523 in Patients with Fragile X Syndrome
-
-
-
113
-
-
33750726094
-
A receptor in fragile X syndrome
-
DOI 10.1016/j.brainres.2006.08.115, PII S0006899306026564
-
D'Hulst C, et al. Decreased expression of the GABAA receptor in fragile X syndrome. Brain Res. 2006;1121(1):238-245. (Pubitemid 44708899)
-
(2006)
Brain Research
, 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
Kooy, R.F.7
-
114
-
-
77954851827
-
Defective GABAergic neurotransmission and pharmacological rescue of neuronal hyperexcitability in the amygdala in a mouse model of fragile X syndrome
-
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):9929-9938.
-
(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
-
117
-
-
67649834454
-
Increased GABA(B) receptor-mediated signaling reduces the susceptibility of fragile X knockout mice to audiogenic seizures
-
Pacey LK, Heximer SP, Hampson DR. Increased GABA(B) receptor-mediated signaling reduces the susceptibility of fragile X knockout mice to audiogenic seizures. Mol Pharmacol. 2009;76(1):18-24.
-
(2009)
Mol Pharmacol
, vol.76
, Issue.1
, pp. 18-24
-
-
Pacey, L.K.1
Heximer, S.P.2
Hampson, D.R.3
-
118
-
-
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, 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):152ra127.
-
(2012)
Sci Transl Med
, vol.4
, Issue.152
-
-
Berry-Kravis, E.M.1
-
119
-
-
84870572304
-
-
Seaside Therapeutics, Inc. NIH Web site. Updated September 28, 2012. Accessed October 19, 2012
-
Seaside Therapeutics, Inc. Safety, Tolerability and Efficacy Study of STX209 in Subjects With Fragile X Syndrome. NIH Web site. http://clinicaltrials. gov/ct2/show/NCT00788073?term=berry-kravis&rank=3. Updated September 28, 2012. Accessed October 19, 2012.
-
Safety, Tolerability and Efficacy Study of STX209 in Subjects with Fragile X Syndrome
-
-
-
120
-
-
84870570836
-
-
Seaside Therapeutics, Inc. NIH Web site. Updated October 10, 2012. Accessed October 19, 2012
-
Seaside Therapeutics, Inc. A Fixed-Dose Study of the Efficacy, Safety, and Tolerability of STX209 (Arbaclofen) Administered for the Treatment of Social Withdrawal in Children With Fragile X Syndrome (Harbor-C). NIH Web site. http://clinicaltrials.gov/ct2/show/NCT01325220?term=baclofen+and+fragile+x& rank=1. Updated October 10, 2012. Accessed October 19, 2012.
-
A Fixed-Dose Study of the Efficacy, Safety, and Tolerability of STX209 (Arbaclofen) Administered for the Treatment of Social Withdrawal in Children with Fragile X Syndrome (Harbor-C)
-
-
-
121
-
-
58849126410
-
Elevated glycogen synthase kinase-3 activity in fragile X mice: Key metabolic regulator with evidence for treatment potential
-
Min WW, et al. Elevated glycogen synthase kinase-3 activity in fragile X mice: key metabolic regulator with evidence for treatment potential. Neuropharmacology. 2009;56(2):463-472.
-
(2009)
Neuropharmacology
, vol.56
, Issue.2
, pp. 463-472
-
-
Min, W.W.1
-
122
-
-
51249098804
-
Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome
-
Berry-Kravis E, et al. Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome. J Dev Behav Pediatr. 2008;29(4):293-302.
-
(2008)
J Dev Behav Pediatr
, vol.29
, Issue.4
, pp. 293-302
-
-
Berry-Kravis, E.1
-
123
-
-
33644937491
-
Matrix metalloproteinase-7 disrupts dendritic spines in hippocampal neurons through NMDA receptor activation
-
Bilousova TV, Rusakov DA, Ethell DW, Ethell IM. Matrix metalloproteinase-7 disrupts dendritic spines in hippocampal neurons through NMDA receptor activation. J Neurochem. 2006;97(1):44-56.
-
(2006)
J Neurochem
, vol.97
, Issue.1
, pp. 44-56
-
-
Bilousova, T.V.1
Rusakov, D.A.2
Ethell, D.W.3
Ethell, I.M.4
-
124
-
-
55049131112
-
Minocycline increases phosphorylation and membrane insertion of neuronal GluR1 receptors
-
Imbesi M, Uz T, Manev R, Sharma RP, Manev H. Minocycline increases phosphorylation and membrane insertion of neuronal GluR1 receptors. Neurosci Lett. 2008;447(2-3):134-137.
-
(2008)
Neurosci Lett
, vol.447
, Issue.2-3
, pp. 134-137
-
-
Imbesi, M.1
Uz, T.2
Manev, R.3
Sharma, R.P.4
Manev, H.5
-
125
-
-
62149089881
-
Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model
-
Bilousova TV, et al. Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model. J Med Genet. 2009;46(2):94-102.
-
(2009)
J Med Genet
, vol.46
, Issue.2
, pp. 94-102
-
-
Bilousova, T.V.1
-
126
-
-
77958192422
-
Side effects of minocycline treatment in patients with fragile X syndrome and exploration of outcome measures
-
Utari A, et al. Side effects of minocycline treatment in patients with fragile X syndrome and exploration of outcome measures. Am J Intellect Dev Disabil. 2010;115(5):433-443.
-
(2010)
Am J Intellect Dev Disabil
, vol.115
, Issue.5
, pp. 433-443
-
-
Utari, A.1
-
127
-
-
77957678816
-
Open label add on treatment trial of minocycline in patients with fragile X syndrome
-
Paribello C. Open label add on treatment trial of minocycline in patients with fragile X syndrome. BMC Neurol. 2010;10:91.
-
(2010)
BMC Neurol
, vol.10
, pp. 91
-
-
Paribello, C.1
-
129
-
-
23844547567
-
Enriched environment promotes behavioral and morphological recovery in a mouse model for the fragile X syndrome
-
DOI 10.1073/pnas.0504984102
-
Restivo L, et al. Enriched environment promotes behavioral and morphological recovery in a mouse model for the fragile X syndrome. Proc Natl Acad Sci U S A. 2005;102(32):11557-11562. (Pubitemid 41153858)
-
(2005)
Proceedings of the National Academy of Sciences of the United States of America
, vol.102
, Issue.32
, pp. 11557-11562
-
-
Restivo, L.1
Ferrari, F.2
Passino, E.3
Sgobio, C.4
Bock, J.5
Oostra, B.A.6
Bagni, C.7
Ammassari-Teule, M.8
-
130
-
-
34248548824
-
Increased Threshold for Spike-Timing-Dependent Plasticity Is Caused by Unreliable Calcium Signaling in Mice Lacking Fragile X Gene Fmr1
-
DOI 10.1016/j.neuron.2007.04.028, PII S0896627307003303
-
Meredith RM, Holmgren CD, Weidum M, Burnashev N, Mansvelder HD. Increased threshold for spike-timing-dependent plasticity is caused by unreliable calcium signaling in mice lacking fragile X gene FMR1. Neuron. 2007;54(4):627-638. (Pubitemid 46756139)
-
(2007)
Neuron
, vol.54
, Issue.4
, pp. 627-638
-
-
Meredith, R.M.1
Holmgren, C.D.2
Weidum, M.3
Burnashev, N.4
Mansvelder, H.D.5
-
131
-
-
82455174804
-
Behavioral intervention for problem behavior in children with fragile X syndrome
-
Moskowitz LJ, Carr EG, Durand VM. Behavioral intervention for problem behavior in children with fragile X syndrome. Am J Intellect Dev Disabil. 2011;116(6):457-478.
-
(2011)
Am J Intellect Dev Disabil
, vol.116
, Issue.6
, pp. 457-478
-
-
Moskowitz, L.J.1
Carr, E.G.2
Durand, V.M.3
-
132
-
-
80051784767
-
Fragile X syndrome: Lifespan developmental implications for those without as well as with intellectual disability
-
Turk J. Fragile X syndrome: lifespan developmental implications for those without as well as with intellectual disability. Curr Opin Psychiatry. 2011;24(5):387-397.
-
(2011)
Curr Opin Psychiatry
, vol.24
, Issue.5
, pp. 387-397
-
-
Turk, J.1
-
133
-
-
85139641292
-
Classroom adaptations: Good practice and work habits. In
-
Dew-Hughes D, ed. New York, New York, USA: Routledge-Falmer
-
Braden M. Classroom adaptations: good practice and work habits. In: Dew-Hughes D, ed. Educating Children With Fragile X Syndrome: A Miltiprofessional View. New York, New York, USA: Routledge-Falmer; 2004:83-96.
-
(2004)
Educating Children with Fragile X Syndrome: A Miltiprofessional View
, pp. 83-96
-
-
Braden, M.1
-
134
-
-
0036514351
-
Genetic and Environmental Influences on the Cognitive Outcomes of Children with Fragile X Syndrome
-
DOI 10.1097/00004583-200203000-00002
-
Dyer-Friedman J, et al. Genetic and environmental influences on the cognitive outcomes of children with fragile X syndrome. J Am Acad Child Adolesc Psychiatry. 2002;41(3):237-244. (Pubitemid 38338144)
-
(2002)
Journal of the American Academy of Child and Adolescent Psychiatry
, vol.41
, Issue.3
, pp. 237-244
-
-
Dyer-Friedman, J.1
Glaser, B.2
Hessl, D.3
Johnston, C.4
Huffman, L.C.5
Taylor, A.6
Wisbeck, J.7
Reiss, A.L.8
-
135
-
-
0035511650
-
The influence of environmental and genetic factors on behavior problems and autistic symptoms in boys and girls with fragile X syndrome
-
Hessl D, et al. The influence of environmental and genetic factors on behavior problems and autistic symptoms in boys and girls with fragile X syndrome. Pediatrics. 2001;108(5):E88.
-
(2001)
Pediatrics
, vol.108
, Issue.5
-
-
Hessl, D.1
-
136
-
-
79958803251
-
Heads-up: New roles for the fragile X mental retardation protein in neural stem and progenitor cells
-
Callan MA, Zarnescu DC. Heads-up: new roles for the fragile X mental retardation protein in neural stem and progenitor cells. Genesis. 2011;49(6):424-440.
-
(2011)
Genesis
, vol.49
, Issue.6
, pp. 424-440
-
-
Callan, M.A.1
Zarnescu, D.C.2
-
137
-
-
37549044298
-
FMRP phosphorylation reveals an immediate-early signaling pathway triggered by group I mGluR and mediated by PP2A
-
Narayanan U, et al. FMRP phosphorylation reveals an immediate-early signaling pathway triggered by group I mGluR and mediated by PP2A. J Neurosci. 2007;27(52):14349-14357.
-
(2007)
J Neurosci
, vol.27
, Issue.52
, pp. 14349-14357
-
-
Narayanan, U.1
|