-
1
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
-
Hagerman RJ, Leehey M, Heinrichs W, et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001;57:127-130.
-
(2001)
Neurology
, vol.57
, pp. 127-130
-
-
Hagerman, RJ1
Leehey, M2
Heinrichs, W3
-
2
-
-
85026141310
-
Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS)
-
Hall DA, Berry-Kravis E, Jacquemont S, et al. Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS). Neurology 2005;65:299-301, http://dx.doi.org/10.1212/01.wnl.0000168900. 86323.9c.
-
(2005)
Neurology
, vol.65
, pp. 299-301
-
-
Hall, DA1
Berry-Kravis, E2
Jacquemont, S3
-
3
-
-
0035394437
-
Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers
-
Kenneson A, Zhang F, Hagedorn CH, et al. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum Mol Genet 2001; 10:1449-1454, http://dx.doi.org/10.1093/hmg/10.14.1449.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1449-1454
-
-
Kenneson, A1
Zhang, F2
Hagedorn, CH3
-
4
-
-
0033940157
-
Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome
-
Tassone F, Hagerman RJ, Taylor AK, et al. Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet 2000;66:6-15, http://dx.doi.org/10.1086/302720.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 6-15
-
-
Tassone, F1
Hagerman, RJ2
Taylor, AK3
-
5
-
-
2342635196
-
The fragile-X premutation: A maturing perspective
-
Hagerman PJ, Hagerman RJ. The fragile-X premutation: A maturing perspective. Am J Hum Genet 2004;74:805-816, http://dx.doi.org/10.1086/ 386296.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 805-816
-
-
Hagerman, PJ1
Hagerman, RJ.2
-
6
-
-
79961128595
-
CGG repeat in the FMR1 gene: Size matters
-
Willemsen R, Levenga J, Oostra B. CGG repeat in the FMR1 gene: Size matters. Clin Genet 2011;80:214-225, http://dx.doi.org/10.1111/j.1399-0004. 2011.01723.x.
-
(2011)
Clin Genet
, vol.80
, pp. 214-225
-
-
Willemsen, R1
Levenga, J2
Oostra, B.3
-
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;3:211-224, http://dx.doi.org/10.1007/s11689-011-9084-5.
-
(2011)
J Neurodev Disord
, vol.3
, pp. 211-224
-
-
Hagerman, R1
Au, J2
Hagerman, P.3
-
8
-
-
42949147652
-
Expanded clinical phenotype of women with the FMR1 premutation
-
Coffey SM, Cook K, Tartaglia N, et al. Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A 2008;146A:1009-1016, http://dx.doi.org/10.1002/ajmg.a.32060.
-
(2008)
Am J Med Genet A
, vol.146A
, pp. 1009-1016
-
-
Coffey, SM1
Cook, K2
Tartaglia, N3
-
9
-
-
70349612509
-
Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families
-
Rodriguez-Revenga L, Madrigal I, Pagonabarraga J, et al. Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families. Eur J Hum Genet 2009;17:1359-1362, http://dx.doi.org/10.1038/ ejhg.2009.51.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 1359-1362
-
-
Rodriguez-Revenga, L1
Madrigal, I2
Pagonabarraga, J3
-
10
-
-
84860880500
-
Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder
-
Chonchaiya W, Au J, Schneider A, 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, http://dx.doi.org/10. 1007/s00439-011-1106-6.
-
(2012)
Hum Genet
, vol.131
, Issue.4
, pp. 581-589
-
-
Chonchaiya, W1
Au, J2
Schneider, A3
-
11
-
-
70450203364
-
Pathogenic mechanisms of myotonic dystrophy
-
Lee JE, Cooper TA. Pathogenic mechanisms of myotonic dystrophy. Biochem Soc Trans 2009;37:1281-1286, http://dx.doi.org/10.1042/ BST0371281.
-
(2009)
Biochem Soc Trans
, vol.37
, pp. 1281-1286
-
-
Lee, JE1
Cooper, TA.2
-
12
-
-
34648839886
-
Myotonic dystrophy: RNA-mediated muscle disease
-
Wheeler TM, Thornton CA. Myotonic dystrophy: RNA-mediated muscle disease. Curr Opin Neurol 2007;20:572-576, http://dx.doi.org/10. 1097/WCO.0b013e3282ef6064.
-
(2007)
Curr Opin Neurol
, vol.20
, pp. 572-576
-
-
Wheeler, TM1
Thornton, CA.2
-
13
-
-
77950529507
-
Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients
-
Sellier C, Rau F, Liu Y, et al. Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. EMBO J 2010;29:1248-1261, http://dx.doi.org/10.1038/emboj.2010.21.
-
(2010)
EMBO J
, vol.29
, pp. 1248-1261
-
-
Sellier, C1
Rau, F2
Liu, Y3
-
14
-
-
58149475702
-
Sam68 regulates a set of alternatively spliced exons during neurogenesis
-
Chawla G, Lin CH, Han A, et al. Sam68 regulates a set of alternatively spliced exons during neurogenesis. Mol Cell Biol 2009;29:201-213, http://dx. doi.org/10.1128/MCB.01349-08.
-
(2009)
Mol Cell Biol
, vol.29
, pp. 201-213
-
-
Chawla, G1
Lin, CH2
Han, A3
-
15
-
-
33947712084
-
The RNA-binding protein Sam68 modulates the alternative splicing of Bcl-x
-
Paronetto MP, Achsel T, Massiello A, et al. The RNA-binding protein Sam68 modulates the alternative splicing of Bcl-x. J Cell Biol 2007;176:929-939, http://dx.doi.org/10.1083/jcb.200701005.
-
(2007)
J Cell Biol
, vol.176
, pp. 929-939
-
-
Paronetto, MP1
Achsel, T2
Massiello, A3
-
16
-
-
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, et al. Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome. Neuron 2007;55:556-564, http://dx.doi.org/10.1016/ j.neuron.2007.07.020.
-
(2007)
Neuron
, vol.55
, pp. 556-564
-
-
Jin, P1
Duan, R2
Qurashi, A3
-
17
-
-
79959845010
-
Nuclear accumulation of stress response mRNAs contributes to the neurodegeneration caused by fragile X premutation rCGG repeats
-
Qurashi A, Li W, Zhou JY, et al. Nuclear accumulation of stress response mRNAs contributes to the neurodegeneration caused by fragile X premutation rCGG repeats. PLoS Genet 2011;7:e1002102, http://dx.doi.org/10.1371/ journal.pgen.1002102.
-
(2011)
PLoS Genet
, vol.7
, pp. e1002102
-
-
Qurashi, A1
Li, W2
Zhou, JY3
-
18
-
-
0141557777
-
Pur alpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse
-
Khalili K, Del Valle L, Muralidharan V, et al. Pur alpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse. Mol Cell Biol 2003;23:6857- 6875, http://dx.doi.org/10.1128/MCB.23.19.6857-6875.2003.
-
(2003)
Mol Cell Biol
, vol.23
, pp. 6857-6875
-
-
Khalili, K1
Del Valle, L2
Muralidharan, V3
-
19
-
-
34547697173
-
RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS
-
Sofola OA, Jin P, Qin Y, et al. RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS. Neuron 2007;55:565-571, http:// dx.doi.org/10.1016/j.neuron.2007.07.021.
-
(2007)
Neuron
, vol.55
, pp. 565-571
-
-
Sofola, OA1
Jin, P2
Qin, Y3
-
20
-
-
80052598182
-
Spatial code recognition in neuronal RNA targeting: Role of RNA-hnRNP A2 interactions
-
Muslimov IA, Patel MV, Rose A, et al. Spatial code recognition in neuronal RNA targeting: Role of RNA-hnRNP A2 interactions. J Cell Biol 2011;194:441-457, http://dx.doi.org/10.1083/jcb.201010027.
-
(2011)
J Cell Biol
, vol.194
, pp. 441-457
-
-
Muslimov, IA1
Patel, MV2
Rose, A3
-
21
-
-
79959923521
-
G-quadruplex RNA structure as a signal for neurite mRNA targeting
-
Subramanian M, Rage F, Tabet R, et al. G-quadruplex RNA structure as a signal for neurite mRNA targeting. EMBO Rep 2011;12:697-704, http:// dx.doi.org/10.1038/embor.2011.76.
-
(2011)
EMBO Rep
, vol.12
, pp. 697-704
-
-
Subramanian, M1
Rage, F2
Tabet, R3
-
22
-
-
79955995196
-
DROSHA/DGCR8 sequestration by expanded CGG repeats leads to global micro-RNA processing alteration in FXTAS patients
-
[abstract]. July 21-25; Detroit, MI
-
Sellier C, Hagerman P, Willemsen R, et al. DROSHA/DGCR8 sequestration by expanded CGG repeats leads to global micro-RNA processing alteration in FXTAS patients [abstract]. 12th International Fragile X Conference; July 21-25; Detroit, MI 2010.
-
(2010)
12th International Fragile X Conference
-
-
Sellier, C1
Hagerman, P2
Willemsen, R3
-
23
-
-
10344248903
-
The human DiGeorge syndrome critical region gene 8 and Its D. melanogaster homolog are required for miRNA biogenesis
-
Landthaler M, Yalcin A, Tuschl T. The human DiGeorge syndrome critical region gene 8 and Its D. melanogaster homolog are required for miRNA biogenesis. Curr Biol 2004;14:2162-2167, http://dx.doi.org/10.1016/j.cub. 2004.11.001.
-
(2004)
Curr Biol
, vol.14
, pp. 2162-2167
-
-
Landthaler, M1
Yalcin, A2
Tuschl, T.3
-
24
-
-
78651245300
-
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
-
McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore) 2011;90:1-18, http://dx.doi.org/10.1097/MD.0b013e3182060469.
-
(2011)
Medicine (Baltimore)
, vol.90
, pp. 1-18
-
-
McDonald-McGinn, DM1
Sullivan, KE.2
-
25
-
-
79551627496
-
A parsimonious model for gene regulation by miRNAs
-
Djuranovic S, Nahvi A, Green R. A parsimonious model for gene regulation by miRNAs. Science 2011;331:550-553, http://dx.doi.org/10.1126/ science.1191138.
-
(2011)
Science
, vol.331
, pp. 550-553
-
-
Djuranovic, S1
Nahvi, A2
Green, R.3
-
26
-
-
79960111223
-
Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome
-
Napoli E, Ross-Inta C, Wong S, et al. Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome. Hum Mol Genet 2011;20:3079-3092, http://dx.doi.org/10.1093/ hmg/ddr211.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 3079-3092
-
-
Napoli, E1
Ross-Inta, C2
Wong, S3
-
27
-
-
77955071201
-
Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome
-
Ross-Inta C, Omanska-Klusek A, Wong S, et al. Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome. Biochem J 2010;429:545-552, http://dx.doi.org/10.1042/BJ20091960.
-
(2010)
Biochem J
, vol.429
, pp. 545-552
-
-
Ross-Inta, C1
Omanska-Klusek, A2
Wong, S3
-
28
-
-
77949444730
-
Fibroblast phenotype in male carriers of FMR1 premutation alleles
-
Garcia-Arocena D, Yang JE, Brouwer JR, et al. Fibroblast phenotype in male carriers of FMR1 premutation alleles. Hum Mol Genet 2010;19:299-312, http://dx.doi.org/10.1093/hmg/ddp497.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 299-312
-
-
Garcia-Arocena, D1
Yang, JE2
Brouwer, JR3
-
29
-
-
44849139317
-
Reduced telomere length in older men with premutation alleles of the fragile X mental retardation 1 gene
-
Jenkins EC, Tassone F, Ye L, et al. Reduced telomere length in older men with premutation alleles of the fragile X mental retardation 1 gene. Am J Med Genet A 2008;146A:1543-1546, http://dx.doi.org/10.1002/ajmg.a.32342.
-
(2008)
Am J Med Genet A
, vol.146A
, pp. 1543-1546
-
-
Jenkins, EC1
Tassone, F2
Ye, L3
-
30
-
-
58349111158
-
Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease
-
Hall DA, Howard K, Hagerman R, et al. Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease. Parkinsonism Relat Disord 2009;15:156-159, http://dx.doi.org/10.1016/j. parkreldis.2008.04.037.
-
(2009)
Parkinsonism Relat Disord
, vol.15
, pp. 156-159
-
-
Hall, DA1
Howard, K2
Hagerman, R3
-
31
-
-
79955919529
-
Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism
-
Loesch DZ, Godler DE, Evans A, et al. Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism. Genet Med 2011;13:392-399, http://dx.doi.org/10.1097/GIM.0b013e3182064362.
-
(2011)
Genet Med
, vol.13
, pp. 392-399
-
-
Loesch, DZ1
Godler, DE2
Evans, A3
-
32
-
-
70449421459
-
Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism
-
Loesch DZ, Khaniani MS, Slater HR, et al. Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism. Clin Genet 2009;76:471-476, http://dx.doi.org/10.1111/j.1399-0004.2009.01275.x.
-
(2009)
Clin Genet
, vol.76
, pp. 471-476
-
-
Loesch, DZ1
Khaniani, MS2
Slater, HR3
-
33
-
-
67649218764
-
A review of fragile X premutation disorders: Expanding the psychiatric perspective
-
Bourgeois JA, Coffey SM, Rivera SM, et al. A review of fragile X premutation disorders: Expanding the psychiatric perspective. J Clin Psychiatry 2009;70:852-862, http://dx.doi.org/10.4088/JCP.08r04476.
-
(2009)
J Clin Psychiatry
, vol.70
, pp. 852-862
-
-
Bourgeois, JA1
Coffey, SM2
Rivera, SM3
-
34
-
-
55349132387
-
Dementia in fragile Xassociated tremor/ataxia syndrome (FXTAS): Comparison with Alzheimer’s disease
-
Seritan AL, Nguyen DV, Farias ST, et al. Dementia in fragile Xassociated tremor/ataxia syndrome (FXTAS): Comparison with Alzheimer’s disease. Am J Med Genet B Neuropsychiatr Genet 2008;147B:1138-1144, http://dx. doi.org/10.1002/ajmg.b.30732.
-
(2008)
Am J Med Genet B Neuropsychiatr Genet
, vol.147B
, pp. 1138-1144
-
-
Seritan, AL1
Nguyen, DV2
Farias, ST3
-
35
-
-
78650126962
-
Nitrosylation and nitration of mitochondrial complex I in Parkinson’s disease
-
Chinta SJ, Andersen JK. Nitrosylation and nitration of mitochondrial complex I in Parkinson’s disease. Free Radic Res 2011;45:53-58, http://dx.doi. org/10.3109/10715762.2010.509398.
-
(2011)
Free Radic Res
, vol.45
, pp. 53-58
-
-
Chinta, SJ1
Andersen, JK.2
-
36
-
-
74949089639
-
Mitochondrial dysfunction and biogenesis in the pathogenesis of Parkinson’s disease
-
Lin TK, Liou CW, Chen SD, et al. Mitochondrial dysfunction and biogenesis in the pathogenesis of Parkinson’s disease. Chang Gung Med J 2009;32: 589-599.
-
(2009)
Chang Gung Med J
, vol.32
, pp. 589-599
-
-
Lin, TK1
Liou, CW2
Chen, SD3
-
37
-
-
67649760168
-
Mitochondrial dynamics in Parkinson’s disease
-
Van Laar VS, Berman SB. Mitochondrial dynamics in Parkinson’s disease. Exp Neurol 2009;218:247-256, http://dx.doi.org/10.1016/j.expneurol. 2009.03.019.
-
(2009)
Exp Neurol
, vol.218
, pp. 247-256
-
-
Van Laar, VS1
Berman, SB.2
-
38
-
-
68949209958
-
Cell death pathways in Parkinson’s disease: Role of mitochondria
-
Yao Z, Wood NW. Cell death pathways in Parkinson’s disease: Role of mitochondria. Antioxid Redox Signal 2009;11:2135-2149, http://dx.doi.org/10. 1089/ars.2009.2624.
-
(2009)
Antioxid Redox Signal
, vol.11
, pp. 2135-2149
-
-
Yao, Z1
Wood, NW.2
-
39
-
-
79959305691
-
Mitochondria: The next (neurode)generation
-
Schon EA, Przedborski S. Mitochondria: The next (neurode)generation. Neuron 2011;70:1033-1053, http://dx.doi.org/10.1016/j.neuron.2011.06.003.
-
(2011)
Neuron
, vol.70
, pp. 1033-1053
-
-
Schon, EA1
Przedborski, S.2
-
40
-
-
79955698792
-
Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development
-
Cunningham CL, Martı´nez Cerden˜o V, Navarro Porras E, et al. Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development. Hum Molec Genet 2011;20:64-79, http://dx.doi.org/ 10.1093/hmg/ddq432.
-
(2011)
Hum Molec Genet
, vol.20
, pp. 64-79
-
-
Cunningham, CL1
Martı´nez Cerden˜o, V2
Navarro Porras, E3
-
41
-
-
77649301567
-
Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration
-
Chen Y, Tassone F, Berman RF, et al. Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration. Hum Mol Genet 2010;19:196-208, http://dx.doi.org/10.1093/ hmg/ddp479.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 196-208
-
-
Chen, Y1
Tassone, F2
Berman, RF3
-
42
-
-
72249123025
-
Progressive spatial processing deficits in a mouse model of the fragile X premutation
-
Hunsaker MR, Wenzel HJ, Willemsen R, et al. Progressive spatial processing deficits in a mouse model of the fragile X premutation. Behav Neurosci 2009;123:1315-1324, http://dx.doi.org/10.1037/a0017616.
-
(2009)
Behav Neurosci
, vol.123
, pp. 1315-1324
-
-
Hunsaker, MR1
Wenzel, HJ2
Willemsen, R3
-
43
-
-
79952041679
-
Young adult female fragile X premutation carriers show age-and genetically-modulated cognitiveimpairments
-
Goodrich-Hunsaker N, Wong L, McLennan Y, et al. Young adult female fragile X premutation carriers show age-and genetically-modulated cognitiveimpairments. Brain Cogn 2011;75:255-260, http://dx.doi.org/10.1016/j.bandc. 2011.01.001.
-
(2011)
Brain Cogn
, vol.75
, pp. 255-260
-
-
Goodrich-Hunsaker, N1
Wong, L2
McLennan, Y3
-
44
-
-
79751535827
-
A mouse model of the fragile X premutation: Effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis
-
Qin M, Entezam A, Usdin K, et al. A mouse model of the fragile X premutation: Effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis. Neurobiol Dis 2011;42:85-98, http://dx.doi.org/10. 1016/j.nbd.2011.01.008.
-
(2011)
Neurobiol Dis
, vol.42
, pp. 85-98
-
-
Qin, M1
Entezam, A2
Usdin, K3
-
45
-
-
80455174205
-
Mouse models of the fragile X premutation and the fragile X associated tremor/ataxia syndrome
-
Hunsaker MR, Arque G, Berman RF, et al. Mouse models of the fragile X premutation and the fragile X associated tremor/ataxia syndrome. Results Probl Cell Differ 2012;54:255-269, http://dx.doi.org/10.1007/978-3-642- 21649-7_14.
-
(2012)
Results Probl Cell Differ
, vol.54
, pp. 255-269
-
-
Hunsaker, MR1
Arque, G2
Berman, RF3
-
46
-
-
56749165180
-
CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile Xassociated tremor/ataxia syndrome
-
Brouwer JR, Huizer K, Severijnen LA, et al. CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile Xassociated tremor/ataxia syndrome. J Neurochem 2008;107:1671-1682, http:// dx.doi.org/10.1111/j.1471-4159.2008.05747.x.
-
(2008)
J Neurochem
, vol.107
, pp. 1671-1682
-
-
Brouwer, JR1
Huizer, K2
Severijnen, LA3
-
47
-
-
0034016083
-
Clinical involvement and protein expression in individuals with the FMR1 premutation
-
Tassone F, Hagerman RJ, Taylor AK, et al. Clinical involvement and protein expression in individuals with the FMR1 premutation. Am J Med Genet 2000; 91: 144-152, ht t p://dx. doi.org/10. 1 002/(SICI)10 96- 8628(20000313)91:2,144::AID-AJMG14.3.0.CO;2-V.
-
(2000)
Am J Med Genet
, vol.91
, pp. 144-152
-
-
Tassone, F1
Hagerman, RJ2
Taylor, AK3
-
48
-
-
12744260103
-
Autistic spectrum disorder and the fragile X premutation
-
Goodlin-Jones BL, Tassone F, Gane LW, et al. Autistic spectrum disorder and the fragile X premutation. J Dev Behav Pediatr 2004;25:392-398, http://dx.doi.org/10.1097/00004703-200412000-00002.
-
(2004)
J Dev Behav Pediatr
, vol.25
, pp. 392-398
-
-
Goodlin-Jones, BL1
Tassone, F2
Gane, LW3
-
49
-
-
80053932593
-
Decreased fragile X mental retardation protein expression underlies amygdala dysfunction in carriers of the fragile X premutation
-
Hessl D, Wang JM, Schneider A, et al. Decreased fragile X mental retardation protein expression underlies amygdala dysfunction in carriers of the fragile X premutation. Biol Psychiatry 2011;70:859-865, http://dx.doi.org/10. 1016/j.biopsych.2011.05.033.
-
(2011)
Biol Psychiatry
, vol.70
, pp. 859-865
-
-
Hessl, D1
Wang, JM2
Schneider, A3
-
50
-
-
0041819618
-
Clinical features of boys with fragile X premutations and intermediate alleles
-
Aziz M, Stathopulu E, Callias M, et al. Clinical features of boys with fragile X premutations and intermediate alleles. Am J Med Genet B Neuropsychiatr Genet 2003;121:119-127, http://dx.doi.org/10.1002/ajmg.b.20030.
-
(2003)
Am J Med Genet B Neuropsychiatr Genet
, vol.121
, pp. 119-127
-
-
Aziz, M1
Stathopulu, E2
Callias, M3
-
51
-
-
33750283784
-
Autism Spectrum Disorders and Attention-Deficit/Hyperactivity Disorder in Boys with the Fragile X Premutation
-
Farzin F, Perry H, Hessl D, et al. Autism Spectrum Disorders and Attention-Deficit/Hyperactivity Disorder in Boys with the Fragile X Premutation. J Dev Behav Pediatr 2006;27:S137-S144, http://dx.doi.org/10. 1097/00004703-200604002-00012.
-
(2006)
J Dev Behav Pediatr
, vol.27
, pp. S137-S144
-
-
Farzin, F1
Perry, H2
Hessl, D3
-
52
-
-
79953709471
-
Fragile X and autism: Intertwined at the molecular level leading to targeted treatments
-
Hagerman R, Hoem G, Hagerman P. Fragile X and autism: Intertwined at the molecular level leading to targeted treatments. Molec Autism 2010;1:12, http://dx.doi.org/10.1186/2040-2392-1-12.
-
(2010)
Molec Autism
, vol.1
, pp. 12
-
-
Hagerman, R1
Hoem, G2
Hagerman, P.3
-
53
-
-
79961135207
-
Fragile X-associated tremor/ataxia syndrome
-
Vinken P, Bruyn G, editors. New York: Wiley Interscience Division
-
Leehey M, Hagerman P. Fragile X-associated tremor/ataxia syndrome. In: Vinken P, Bruyn G, editors. Handbook of Clinical Neurology. New York: Wiley Interscience Division;2012:373-386.
-
(2012)
Handbook of Clinical Neurology
, pp. 373-386
-
-
Leehey, M1
Hagerman, P.2
-
54
-
-
37849039491
-
Arousal modulation in females with fragile X or Turner syndrome
-
Roberts J, Mazzocco MM, Murphy MM, et al. Arousal modulation in females with fragile X or Turner syndrome. J Autism Dev Disord 2008;38:20-27, http://dx.doi.org/10.1007/s10803-007-0356-6.
-
(2008)
J Autism Dev Disord
, vol.38
, pp. 20-27
-
-
Roberts, J1
Mazzocco, MM2
Murphy, MM3
-
56
-
-
33645314905
-
Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation
-
Bodega B, Bione S, Dalpra L, et al. Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. Hum Reprod 2006;21:952-957, http://dx.doi.org/10.1093/ humrep/dei432.
-
(2006)
Hum Reprod
, vol.21
, pp. 952-957
-
-
Bodega, B1
Bione, S2
Dalpra, L3
-
57
-
-
23944493381
-
FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure
-
Bretherick KL, Fluker MR, Robinson WP. FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Hum Genet 2005;117:376-382, http://dx.doi.org/10.1007/s00439-005- 1326-8.
-
(2005)
Hum Genet
, vol.117
, pp. 376-382
-
-
Bretherick, KL1
Fluker, MR2
Robinson, WP.3
-
58
-
-
77954984471
-
Parkinsonism and cognitive decline in a fragile X mosaic male
-
Hall D, Pickler L, Riley K, et al. Parkinsonism and cognitive decline in a fragile X mosaic male. Mov Disord 2010;25:1523-1524, http://dx.doi.org/10. 1002/mds.23150.
-
(2010)
Mov Disord
, vol.25
, pp. 1523-1524
-
-
Hall, D1
Pickler, L2
Riley, K3
-
59
-
-
79957468734
-
Rare intranuclear inclusions in the brains of 3 older adult males with fragile X syndrome: Implications for the spectrum of fragile X-associated disorders
-
Hunsaker MR, Greco CM, Tassone F, et al. Rare intranuclear inclusions in the brains of 3 older adult males with fragile X syndrome: Implications for the spectrum of fragile X-associated disorders. J Neuropathol Exp Neurol 2011;70: 462-469, http://dx.doi.org/10.1097/NEN.0b013e31821d3194.
-
(2011)
J Neuropathol Exp Neurol
, vol.70
, pp. 462-469
-
-
Hunsaker, MR1
Greco, CM2
Tassone, F3
-
60
-
-
77954954470
-
Aging in fragile X syndrome
-
Utari A, Adams E, Berry-Kravis E, et al. Aging in fragile X syndrome. J Neurodev Disord 2010;2:70-76, http://dx.doi.org/10.1007/s11689-010-9047-2.
-
(2010)
J Neurodev Disord
, vol.2
, pp. 70-76
-
-
Utari, A1
Adams, E2
Berry-Kravis, E3
-
61
-
-
77952353946
-
Fragile X mental retardation protein regulates proliferation and differentiation of adult neural stem/progenitor cells
-
Luo Y, Shan G, Guo W, et al. Fragile X mental retardation protein regulates proliferation and differentiation of adult neural stem/progenitor cells. PLoS Genet 2010;6:e1000898, http://dx.doi.org/10.1371/journal.pgen. 1000898.
-
(2010)
PLoS Genet
, vol.6
, pp. e1000898
-
-
Luo, Y1
Shan, G2
Guo, W3
-
62
-
-
80052264026
-
FMR1 gray-zone alleles: Association with Parkinson’s disease in women?
-
Hall DA, Berry-Kravis E, Zhang W, et al. FMR1 gray-zone alleles: Association with Parkinson’s disease in women? Mov Disord 2011;26:1900-1906, http://dx.doi.org/10.1002/mds.23755.
-
(2011)
Mov Disord
, vol.26
, pp. 1900-1906
-
-
Hall, DA1
Berry-Kravis, E2
Zhang, W3
-
63
-
-
34147169493
-
Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats
-
Loesch DZ, Bui QM, Huggins RM, et al. Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats. J Med Genet 2007;44:200-204, http://dx.doi.org/10.1136/jmg.2006.043950.
-
(2007)
J Med Genet
, vol.44
, pp. 200-204
-
-
Loesch, DZ1
Bui, QM2
Huggins, RM3
-
64
-
-
60549097218
-
Screening for the presence of FMR1 premutation alleles in women with parkinsonism
-
Cilia R, Kraff J, Canesi M, et al. Screening for the presence of FMR1 premutation alleles in women with parkinsonism. Arch Neurol 2009;66:244-249, http://dx.doi.org/10.1001/archneurol.2008.548.
-
(2009)
Arch Neurol
, vol.66
, pp. 244-249
-
-
Cilia, R1
Kraff, J2
Canesi, M3
-
65
-
-
5044245884
-
Premutation alleles associated with Parkinson disease and essential tremor
-
Deng H, Le W, Jankovic J. Premutation alleles associated with Parkinson disease and essential tremor. JAMA 2004;292:1685-1686, http://dx.doi.org/ 10.1001/jama.292.14.1685-b.
-
(2004)
JAMA
, vol.292
, pp. 1685-1686
-
-
Deng, H1
Le, W2
Jankovic, J.3
-
66
-
-
34447281250
-
Screen for excess FMR1 premutation alleles among males with parkinsonism
-
Kraff J, Tang HT, Cilia R, et al. Screen for excess FMR1 premutation alleles among males with parkinsonism. Arch Neurol 2007;64:1002-1006, http:// dx.doi.org/10.1001/archneur.64.7.1002.
-
(2007)
Arch Neurol
, vol.64
, pp. 1002-1006
-
-
Kraff, J1
Tang, HT2
Cilia, R3
-
67
-
-
34249941641
-
FMR1 alleles in Parkinson’s disease: Relation to cognitive decline and hallucinations, a longitudinal study
-
Kurz MW, Schlitter AM, Klenk Y, et al. FMR1 alleles in Parkinson’s disease: Relation to cognitive decline and hallucinations, a longitudinal study. J Geriatr Psychiatry Neurol 2007;20:89-92, http://dx.doi.org/10.1177/ 0891988706297737.
-
(2007)
J Geriatr Psychiatry Neurol
, vol.20
, pp. 89-92
-
-
Kurz, MW1
Schlitter, AM2
Klenk, Y3
-
68
-
-
40749086400
-
Frequency of FMR1 premutation in individuals with ataxia and/or tremor and/or parkinsonism
-
Reis AH, Ferreira AC, Gomes KB, et al. Frequency of FMR1 premutation in individuals with ataxia and/or tremor and/or parkinsonism. Genet Mol Res 2008;7:74-84, http://dx.doi.org/10.4238/vol7-1gmr357.
-
(2008)
Genet Mol Res
, vol.7
, pp. 74-84
-
-
Reis, AH1
Ferreira, AC2
Gomes, KB3
-
69
-
-
3242774429
-
Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort
-
Tan EK, Zhao Y, Puong KY, et al. Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort. Neurology 2004;63:362-363.
-
(2004)
Neurology
, vol.63
, pp. 362-363
-
-
Tan, EK1
Zhao, Y2
Puong, KY3
-
70
-
-
14944385602
-
Parkinsonism, FXTAS, and FMR1 premutations
-
Toft M, Aasly J, Bisceglio G, et al. Parkinsonism, FXTAS, and FMR1 premutations. Mov Disord 2005;20:230-233, http://dx.doi.org/10.1002/mds. 20297.
-
(2005)
Mov Disord
, vol.20
, pp. 230-233
-
-
Toft, M1
Aasly, J2
Bisceglio, G3
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