-
1
-
-
28744442194
-
Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells
-
Arocena DG, Iwahashi CK, Won N, Beilina A, Ludwig AL, Tassone F, Schwartz PH, Hagerman PJ. 2005. Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells. Hum Mol Genet 14(23):3661-3671.
-
(2005)
Hum Mol Genet
, vol.14
, Issue.23
, pp. 3661-3671
-
-
Arocena, D.G.1
Iwahashi, C.K.2
Won, N.3
Beilina, A.4
Ludwig, A.L.5
Tassone, F.6
Schwartz, P.H.7
Hagerman, P.J.8
-
2
-
-
0036846189
-
Fragile X premutation carriers: Characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction
-
Brunberg JA, Jacquemont S, Hagerman RJ, Berry-Kravis EM, Grigsby J, Leehey MA, Tassone F, Brown WT, Greco CM, Hagerman PJ. 2002. Fragile X premutation carriers: Characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. Am J Neuroradiol 23(10):1757-1766.
-
(2002)
Am J Neuroradiol
, vol.23
, Issue.10
, pp. 1757-1766
-
-
Brunberg, J.A.1
Jacquemont, S.2
Hagerman, R.J.3
Berry-Kravis, E.M.4
Grigsby, J.5
Leehey, M.A.6
Tassone, F.7
Brown, W.T.8
Greco, C.M.9
Hagerman, P.J.10
-
3
-
-
33750335320
-
Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Cohen S, Masyn K, Adams JS, Hessl D, Rivera SM, Tassone F, Hagerman PJ, Brunberg J, DeCarli C, Zhang L, Cogswell J, Loesch D, Leehey M, Grigsby J, Hagerman RJ. 2006. Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome (FXTAS). Neurology 67(8):1426-1431.
-
(2006)
Neurology
, vol.67
, Issue.8
, pp. 1426-1431
-
-
Cohen, S.1
Masyn, K.2
Adams, J.S.3
Hessl, D.4
Rivera, S.M.5
Tassone, F.6
Hagerman, P.J.7
Brunberg, J.8
DeCarli, C.9
Zhang, L.10
Cogswell, J.11
Loesch, D.12
Leehey, M.13
Grigsby, J.14
Hagerman, R.J.15
-
4
-
-
84878760524
-
-
Di Maria E, Grasso M, Pigullo S, Faravelli F, Abbruzzese G, Barone P, Martinelli P, Ratto S, Sciolla R, Bellone E, Dagna-Bricarelli F, Ajmar F, Mandich P. 2003. Further evidence that a tremor/ataxia syndrome may occur in Fragile X premutation carriers. Los Angeles, CA, Am J Hum Genetics (A2265): 2555.
-
Di Maria E, Grasso M, Pigullo S, Faravelli F, Abbruzzese G, Barone P, Martinelli P, Ratto S, Sciolla R, Bellone E, Dagna-Bricarelli F, Ajmar F, Mandich P. 2003. Further evidence that a tremor/ataxia syndrome may occur in Fragile X premutation carriers. Los Angeles, CA, Am J Hum Genetics (A2265): 2555.
-
-
-
-
5
-
-
0037084852
-
Premutation and intermediate-size FMR1 alleles in 10572 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 S, Morel ML, Rouillard P, Morgan K, Rousseau F. 2002. Premutation and intermediate-size FMR1 alleles in 10572 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 11(4):371-378.
-
(2002)
Hum Mol Genet
, 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
-
6
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
-
Fu YH, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, Holden JJ, Fenwick RG Jr, Warren ST, Oostra BA, Nelson DL, Caskey CT. 1991. Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell 67(6):1047-1058.
-
(1991)
Cell
, vol.67
, Issue.6
, pp. 1047-1058
-
-
Fu, Y.H.1
Kuhl, D.P.2
Pizzuti, A.3
Pieretti, M.4
Sutcliffe, J.S.5
Richards, S.6
Verkerk, A.J.7
Holden, J.J.8
Fenwick Jr, R.G.9
Warren, S.T.10
Oostra, B.A.11
Nelson, D.L.12
Caskey, C.T.13
-
7
-
-
0036345801
-
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
-
Greco CM, Hagerman RJ, Tassone F, Chudley AE, Del Bigio MR, Jacquemont S, Leehey M, Hagerman PJ. 2002. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 125(Pt 8):1760-1771.
-
(2002)
Brain
, vol.125
, Issue.PART 8
, pp. 1760-1771
-
-
Greco, C.M.1
Hagerman, R.J.2
Tassone, F.3
Chudley, A.E.4
Del Bigio, M.R.5
Jacquemont, S.6
Leehey, M.7
Hagerman, P.J.8
-
8
-
-
30344473617
-
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Greco CM, Berman RF, Martin RM, Tassone F, Schwartz PH, Chang A, Trapp BD, Iwahashi C, Brunberg J, Grigsby J, Hessl D, Becker EJ, Papazian J, Leehey MA, Hagerman RJ, Hagerman PJ. 2006. Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain 129(Pt 1):243-255.
-
(2006)
Brain
, vol.129
, Issue.PART 1
, pp. 243-255
-
-
Greco, C.M.1
Berman, R.F.2
Martin, R.M.3
Tassone, F.4
Schwartz, P.H.5
Chang, A.6
Trapp, B.D.7
Iwahashi, C.8
Brunberg, J.9
Grigsby, J.10
Hessl, D.11
Becker, E.J.12
Papazian, J.13
Leehey, M.A.14
Hagerman, R.J.15
Hagerman, P.J.16
-
9
-
-
33748541972
-
Cognitive impairment in a 65-year-old male with the Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
-
Grigsby J, Leehey MA, Jacquemont S, Brunberg JA, Hagerman RJ, Wilson R, Epstein JH, Greco CM, Tassone F, Hagerman PJ. 2006. Cognitive impairment in a 65-year-old male with the Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). Cogn Behav Neurol (3):165-167.
-
(2006)
Cogn Behav Neurol
, vol.3
, pp. 165-167
-
-
Grigsby, J.1
Leehey, M.A.2
Jacquemont, S.3
Brunberg, J.A.4
Hagerman, R.J.5
Wilson, R.6
Epstein, J.H.7
Greco, C.M.8
Tassone, F.9
Hagerman, P.J.10
-
10
-
-
2342635196
-
The fragile-X premutation: A maturing perspective
-
Hagerman PJ, Hagerman RJ. 2004. The fragile-X premutation: A maturing perspective. Am J Hum Genet 74(5):805-816.
-
(2004)
Am J Hum Genet
, vol.74
, Issue.5
, pp. 805-816
-
-
Hagerman, P.J.1
Hagerman, R.J.2
-
11
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
-
Hagerman RJ, Leehey M, Heinrichs W, Tassone F, Wilson R, Hills J, Grigsby J, Gage B, Hagerman PJ. 2001. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57(1):127-130.
-
(2001)
Neurology
, vol.57
, Issue.1
, pp. 127-130
-
-
Hagerman, R.J.1
Leehey, M.2
Heinrichs, W.3
Tassone, F.4
Wilson, R.5
Hills, J.6
Grigsby, J.7
Gage, B.8
Hagerman, P.J.9
-
12
-
-
2342453253
-
Fragile-X-Associated Tremor/Ataxia Syndrome (FXTAS) in females with the FMR1 premutation
-
Hagerman RJ, Leavitt BR, Farzin F, Jacquemont S, Greco CM, Brunberg JA, Tassone F, Hessl D, Harris SW, Zhang L, Jardini T, Gane LW, Ferranti J, Ruiz L, Leehey MA, Grigsby J, Hagerman PJ. 2004. Fragile-X-Associated Tremor/Ataxia Syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet 74(5):1051-1056.
-
(2004)
Am J Hum Genet
, vol.74
, Issue.5
, pp. 1051-1056
-
-
Hagerman, R.J.1
Leavitt, B.R.2
Farzin, F.3
Jacquemont, S.4
Greco, C.M.5
Brunberg, J.A.6
Tassone, F.7
Hessl, D.8
Harris, S.W.9
Zhang, L.10
Jardini, T.11
Gane, L.W.12
Ferranti, J.13
Ruiz, L.14
Leehey, M.A.15
Grigsby, J.16
Hagerman, P.J.17
-
13
-
-
27644483475
-
Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation
-
Hessl D, Tassone F, Loesch DZ, Berry-Kravis E, Leehey MA, Gane LW, Barbato I, Rice C, Gould E, Hall DA, Grigsby J, Wegelin JA, Harris S, Lewin F, Weinberg D, Hagerman PJ, Hagerman RJ. 2005. Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. Am J Med Genet B Neuropsychiatr Genet 139(1):115-121.
-
(2005)
Am J Med Genet B Neuropsychiatr Genet
, vol.139
, Issue.1
, pp. 115-121
-
-
Hessl, D.1
Tassone, F.2
Loesch, D.Z.3
Berry-Kravis, E.4
Leehey, M.A.5
Gane, L.W.6
Barbato, I.7
Rice, C.8
Gould, E.9
Hall, D.A.10
Grigsby, J.11
Wegelin, J.A.12
Harris, S.13
Lewin, F.14
Weinberg, D.15
Hagerman, P.J.16
Hagerman, R.J.17
-
14
-
-
0037384643
-
Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates
-
Jacquemont S, Hagerman RJ, Leehey M, Grigsby J, Zhang L, Brunberg JA, Greco C, Des Portes V, Jardini T, Levine R, Berry-Kravis E, Brown WT, Schaeffer S, Kissel J, Tassone F, Hagerman PJ. 2003. Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates. Am J Hum Genet 72(4):869-878.
-
(2003)
Am J Hum Genet
, vol.72
, Issue.4
, pp. 869-878
-
-
Jacquemont, S.1
Hagerman, R.J.2
Leehey, M.3
Grigsby, J.4
Zhang, L.5
Brunberg, J.A.6
Greco, C.7
Des Portes, V.8
Jardini, T.9
Levine, R.10
Berry-Kravis, E.11
Brown, W.T.12
Schaeffer, S.13
Kissel, J.14
Tassone, F.15
Hagerman, P.J.16
-
15
-
-
9144252520
-
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population
-
Jacquemont S, Hagerman RJ, Leehey MA, Hall DA, Levine RA, Brunberg JA, Zhang L, Jardini T, Gane LW, Harris SW, Herman K, Grigsby J, Greco CM, Berry-Kravis E, Tassone F, Hagerman PJ. 2004. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA 291(4):460-469.
-
(2004)
JAMA
, vol.291
, Issue.4
, pp. 460-469
-
-
Jacquemont, S.1
Hagerman, R.J.2
Leehey, M.A.3
Hall, D.A.4
Levine, R.A.5
Brunberg, J.A.6
Zhang, L.7
Jardini, T.8
Gane, L.W.9
Harris, S.W.10
Herman, K.11
Grigsby, J.12
Greco, C.M.13
Berry-Kravis, E.14
Tassone, F.15
Hagerman, P.J.16
-
16
-
-
34250828922
-
Size bias of fragile X premutation alleles in late-onset movement disorders
-
Jacquemont S, Leehey MA, Hagerman RJ, Beckett LA, Hagerman PJ. 2006. Size bias of fragile X premutation alleles in late-onset movement disorders. J Med Genet 24:24.
-
(2006)
J Med Genet
, vol.24
, pp. 24
-
-
Jacquemont, S.1
Leehey, M.A.2
Hagerman, R.J.3
Beckett, L.A.4
Hagerman, P.J.5
-
17
-
-
0041880131
-
RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila
-
Jin P, Zarnescu DC, Zhang F, Pearson CE, Lucchesi JC, Moses K, Warren ST. 2003. RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila. Neuron 39(5):739-747.
-
(2003)
Neuron
, vol.39
, Issue.5
, pp. 739-747
-
-
Jin, P.1
Zarnescu, D.C.2
Zhang, F.3
Pearson, C.E.4
Lucchesi, J.C.5
Moses, K.6
Warren, S.T.7
-
18
-
-
23244441878
-
Magnetic resonance imaging study in older fragile X premutation male carriers
-
Loesch DZ, Litewka L, Brotchie P, Huggins RM, Tassone F, Cook M. 2005. Magnetic resonance imaging study in older fragile X premutation male carriers. Ann Neurol 58(2):326-330.
-
(2005)
Ann Neurol
, vol.58
, Issue.2
, pp. 326-330
-
-
Loesch, D.Z.1
Litewka, L.2
Brotchie, P.3
Huggins, R.M.4
Tassone, F.5
Cook, M.6
-
19
-
-
27744591518
-
An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene
-
Saluto A, Brussino A, Tassone F, Arduino C, Cagnoli C, Pappi P, Hagerman P, Migone N, Brusco A. 2005. An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene. J Mol Diagn 7(5):605-612.
-
(2005)
J Mol Diagn
, vol.7
, Issue.5
, pp. 605-612
-
-
Saluto, A.1
Brussino, A.2
Tassone, F.3
Arduino, C.4
Cagnoli, C.5
Pappi, P.6
Hagerman, P.7
Migone, N.8
Brusco, A.9
-
20
-
-
0033612330
-
Strong similarities of the FMR1 mutation in multiple tissues: Postmortem studies of a male with a full mutation and a male carrier of a premutation
-
Tassone F, Hagerman RJ, Gane LW, Taylor AK. 1999a. Strong similarities of the FMR1 mutation in multiple tissues: Postmortem studies of a male with a full mutation and a male carrier of a premutation. Am J Med Genet 84(3):240-244.
-
(1999)
Am J Med Genet
, vol.84
, Issue.3
, pp. 240-244
-
-
Tassone, F.1
Hagerman, R.J.2
Gane, L.W.3
Taylor, A.K.4
-
21
-
-
0033612144
-
FMRP expression as a potential prognostic indicator in fragile X syndrome
-
Tassone F, Hagerman RJ, Ikle DN, Dyer PN, Lampe M, Willemsen R, Oostra BA, Taylor AK. 1999b. FMRP expression as a potential prognostic indicator in fragile X syndrome. Am J Med Genet 84(3):250-261.
-
(1999)
Am J Med Genet
, vol.84
, Issue.3
, pp. 250-261
-
-
Tassone, F.1
Hagerman, R.J.2
Ikle, D.N.3
Dyer, P.N.4
Lampe, M.5
Willemsen, R.6
Oostra, B.A.7
Taylor, A.K.8
-
22
-
-
0034526068
-
Transcription of the FMR1 gene in individuals with fragile X syndrome
-
Tassone F, Hagerman RJ, Chamberlain WD, Hagerman PJ. 2000a. Transcription of the FMR1 gene in individuals with fragile X syndrome. Am J Med Genet 97(3):195-203.
-
(2000)
Am J Med Genet
, vol.97
, Issue.3
, pp. 195-203
-
-
Tassone, F.1
Hagerman, R.J.2
Chamberlain, W.D.3
Hagerman, P.J.4
-
23
-
-
0033940157
-
Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in fragile X syndrome
-
Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, Hagerman PJ. 2000b. Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in fragile X syndrome. Am J Hum Genet 66:6-15.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 6-15
-
-
Tassone, F.1
Hagerman, R.J.2
Taylor, A.K.3
Gane, L.W.4
Godfrey, T.E.5
Hagerman, P.J.6
-
24
-
-
2342578152
-
Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome
-
Tassone F, Hagerman RJ, Garcia-Arocena D, Khandjian EW, Greco CM, Hagerman PJ. 2004. Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome. J Med Genet 41: (4):e43.
-
(2004)
J Med Genet
, vol.41
, Issue.4
-
-
Tassone, F.1
Hagerman, R.J.2
Garcia-Arocena, D.3
Khandjian, E.W.4
Greco, C.M.5
Hagerman, P.J.6
-
25
-
-
19944434329
-
Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia
-
Van Esch H, Dom R, Bex D, Salden I, Caeckebeke J, Wibail A, Borghgraef M, Legius E, Fryns JP, Matthijs G. 2005. Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia. Eur J Hum Genet 13(1):121-123.
-
(2005)
Eur J Hum Genet
, vol.13
, Issue.1
, pp. 121-123
-
-
Van Esch, H.1
Dom, R.2
Bex, D.3
Salden, I.4
Caeckebeke, J.5
Wibail, A.6
Borghgraef, M.7
Legius, E.8
Fryns, J.P.9
Matthijs, G.10
-
26
-
-
0029028295
-
Rapid antibody test for fragile X syndrome
-
Willemsen R, Mohkamsing S, de Vries B, Devys D, van den Ouweland A, Mandel JL, Galjaard H, Oostra B. 1995. Rapid antibody test for fragile X syndrome. Lancet 345(8958):1147-1148.
-
(1995)
Lancet
, vol.345
, Issue.8958
, pp. 1147-1148
-
-
Willemsen, R.1
Mohkamsing, S.2
de Vries, B.3
Devys, D.4
van den Ouweland, A.5
Mandel, J.L.6
Galjaard, H.7
Oostra, B.8
-
27
-
-
0038025990
-
The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions', implications for the cerebellar tremor/ataxia syndrome
-
Willemsen R, Hoogeveen-Westerveld M, Reis S, Holstege J, Severijnen LA, Nieuwenhuizen IM, Schrier M, Van Unen L, Tassone F, Hoogeveen AT, Hagerman PJ, Mientjes EJ, Oostra BA. 2003. The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions', implications for the cerebellar tremor/ataxia syndrome. Hum Mol Genet 12(9):949-959.
-
(2003)
Hum Mol Genet
, vol.12
, Issue.9
, pp. 949-959
-
-
Willemsen, R.1
Hoogeveen-Westerveld, M.2
Reis, S.3
Holstege, J.4
Severijnen, L.A.5
Nieuwenhuizen, I.M.6
Schrier, M.7
Van Unen, L.8
Tassone, F.9
Hoogeveen, A.T.10
Hagerman, P.J.11
Mientjes, E.J.12
Oostra, B.A.13
|