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Volumn 2, Issue , 2012, Pages

Current gaps in understanding the molecular basis of FXTAS

Author keywords

Alzheimer; Fragile X syndrome; Neurodegeneration; Neurodevelopment; Parkinson; Primary ovarian insufficiency

Indexed keywords


EID: 85113601514     PISSN: None     EISSN: 21608288     Source Type: Journal    
DOI: 10.5334/TOHM.123     Document Type: Article
Times cited : (19)

References (70)
  • 1
    • 0035838379 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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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