-
1
-
-
34548209247
-
Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Adams J.S., Adams P.E., Nguyen D., et al. Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS). Neurology 2007, 69:851-859.
-
(2007)
Neurology
, vol.69
, pp. 851-859
-
-
Adams, J.S.1
Adams, P.E.2
Nguyen, D.3
-
2
-
-
34548424947
-
Fragile X premutation in a woman with cognitive impairment, tremor, and history of premature ovarian failure
-
Al-Hinti J.T., Nagan N., Harik S.I. Fragile X premutation in a woman with cognitive impairment, tremor, and history of premature ovarian failure. Alzheimer Dis Assoc Disord 2007, 21:262-264.
-
(2007)
Alzheimer Dis Assoc Disord
, vol.21
, pp. 262-264
-
-
Al-Hinti, J.T.1
Nagan, N.2
Harik, S.I.3
-
3
-
-
43649094122
-
Detection of early FXTAS motor symptoms using the CATSYS computerised neuromotor test battery
-
Allen E.G., Juncos J., Letz R., et al. Detection of early FXTAS motor symptoms using the CATSYS computerised neuromotor test battery. J Med Genet 2008, 45:290-297.
-
(2008)
J Med Genet
, vol.45
, pp. 290-297
-
-
Allen, E.G.1
Juncos, J.2
Letz, R.3
-
4
-
-
0033515496
-
Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study - preliminary data
-
Allingham-Hawkins D.J., Babul-Hirji R., Chitayat D., 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, 83:322-325.
-
(1999)
Am J Med Genet
, vol.83
, pp. 322-325
-
-
Allingham-Hawkins, D.J.1
Babul-Hirji, R.2
Chitayat, D.3
-
5
-
-
0025869916
-
Incidence and prevalence of amyotrophic lateral sclerosis in Harris County, Texas, 1985-1988
-
Annegers J.F., Appel S., Lee J.R., et al. Incidence and prevalence of amyotrophic lateral sclerosis in Harris County, Texas, 1985-1988. Arch Neurol 1991, 48:589-593.
-
(1991)
Arch Neurol
, vol.48
, pp. 589-593
-
-
Annegers, J.F.1
Appel, S.2
Lee, J.R.3
-
6
-
-
28744442194
-
Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells
-
Arocena D.G., Iwahashi C.K., Won N., et al. Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells. Human Mol Genet 2005, 14:3661-3671.
-
(2005)
Human Mol Genet
, vol.14
, pp. 3661-3671
-
-
Arocena, D.G.1
Iwahashi, C.K.2
Won, N.3
-
7
-
-
32244440359
-
Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia
-
Bacalman S., Farzin F., Bourgeois J.A., et al. Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia. J Clin Psychiatry 2006, 67:87-94.
-
(2006)
J Clin Psychiatry
, vol.67
, pp. 87-94
-
-
Bacalman, S.1
Farzin, F.2
Bourgeois, J.A.3
-
8
-
-
74249092236
-
Mouse models of fragile x-associated tremor ataxia
-
Berman R.F., Willemsen R. Mouse models of fragile x-associated tremor ataxia. J Investig Med 2009, 57:837-841.
-
(2009)
J Investig Med
, vol.57
, pp. 837-841
-
-
Berman, R.F.1
Willemsen, R.2
-
9
-
-
0038754166
-
Tremor and ataxia in fragile X premutation carriers: blinded videotape study
-
Berry-Kravis E., Lewin F., Wuu J., et al. Tremor and ataxia in fragile X premutation carriers: blinded videotape study. Ann Neurol 2003, 53:616-623.
-
(2003)
Ann Neurol
, vol.53
, pp. 616-623
-
-
Berry-Kravis, E.1
Lewin, F.2
Wuu, J.3
-
10
-
-
11144233958
-
Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation
-
Berry-Kravis E., Potanos K., Weinberg D., et al. Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation. Ann Neurol 2005, 57:144-147.
-
(2005)
Ann Neurol
, vol.57
, pp. 144-147
-
-
Berry-Kravis, E.1
Potanos, K.2
Weinberg, D.3
-
11
-
-
33846000314
-
Neuropathic features in fragile X premutation carriers
-
Berry-Kravis E., Goetz C.G., Leehey M.A., et al. Neuropathic features in fragile X premutation carriers. Am J Med Genet A 2007, 143:19-26.
-
(2007)
Am J Med Genet A
, vol.143
, pp. 19-26
-
-
Berry-Kravis, E.1
Goetz, C.G.2
Leehey, M.A.3
-
12
-
-
36749009300
-
Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines
-
Berry-Kravis E., Abrams L., Coffey S.M., et al. Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov Disord 2007, 22:2018-2030.
-
(2007)
Mov Disord
, vol.22
, pp. 2018-2030
-
-
Berry-Kravis, E.1
Abrams, L.2
Coffey, S.M.3
-
13
-
-
20844441928
-
FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy
-
Biancalana V., Toft M., Le Ber I., et al. FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy. Arch Neurol 2005, 62:962-966.
-
(2005)
Arch Neurol
, vol.62
, pp. 962-966
-
-
Biancalana, V.1
Toft, M.2
Le Ber, I.3
-
14
-
-
0029814798
-
Amantadine hydrochloride treatment in heredodegenerative ataxias: a double blind study
-
Botez M.I., Botez-Marquard T., Elie R., et al. Amantadine hydrochloride treatment in heredodegenerative ataxias: a double blind study. J Neurol Neurosurg Psychiatry 1996, 61:259-264.
-
(1996)
J Neurol Neurosurg Psychiatry
, vol.61
, pp. 259-264
-
-
Botez, M.I.1
Botez-Marquard, T.2
Elie, R.3
-
15
-
-
34250750659
-
Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome
-
Bourgeois J.A., Cogswell J.B., Hessl D., et al. Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome. Gen Hosp Psychiatry 2007, 29:349-356.
-
(2007)
Gen Hosp Psychiatry
, vol.29
, pp. 349-356
-
-
Bourgeois, J.A.1
Cogswell, J.B.2
Hessl, D.3
-
16
-
-
54349095417
-
The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome
-
Brega A.G., Goodrich G., Bennett R.E., et al. The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome. J Clin Exp Neuropsychol 2008, 30:853-869.
-
(2008)
J Clin Exp Neuropsychol
, vol.30
, pp. 853-869
-
-
Brega, A.G.1
Goodrich, G.2
Bennett, R.E.3
-
17
-
-
56749165180
-
CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome
-
Brouwer J.R., Huizer K., Severijnen L.A., et al. CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. J Neurochem 2008, 107:1671-1682.
-
(2008)
J Neurochem
, vol.107
, pp. 1671-1682
-
-
Brouwer, J.R.1
Huizer, K.2
Severijnen, L.A.3
-
18
-
-
46249101217
-
Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome
-
Brouwer J.R., Severijnen E., de Jong F.H., et al. Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome. Psychoneuroendocrinology 2008, 33:863-873.
-
(2008)
Psychoneuroendocrinology
, vol.33
, pp. 863-873
-
-
Brouwer, J.R.1
Severijnen, E.2
de Jong, F.H.3
-
20
-
-
0036846189
-
Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction
-
Brunberg J.A., Jacquemont S., Hagerman R.J., et al. Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Am J Neuroradiol 2002, 23:1757-1766.
-
(2002)
AJNR Am J Neuroradiol
, vol.23
, pp. 1757-1766
-
-
Brunberg, J.A.1
Jacquemont, S.2
Hagerman, R.J.3
-
21
-
-
19944425949
-
FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia
-
Brussino A., Gellera C., Saluto A., et al. FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia. Neurology 2005, 64:145-147.
-
(2005)
Neurology
, vol.64
, pp. 145-147
-
-
Brussino, A.1
Gellera, C.2
Saluto, A.3
-
22
-
-
0027055105
-
Adult onset motor neuron disease: worldwide mortality, incidence and distribution since 1950
-
Chancellor A.M., Warlow C.P. Adult onset motor neuron disease: worldwide mortality, incidence and distribution since 1950. J Neurol Neurosurg Psychiatry 1992, 55:1106-1115.
-
(1992)
J Neurol Neurosurg Psychiatry
, vol.55
, pp. 1106-1115
-
-
Chancellor, A.M.1
Warlow, C.P.2
-
23
-
-
42949147652
-
Expanded clinical phenotype of women with the FMR1 premutation
-
Coffey S.M., Cook K., Tartaglia N., et al. Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A 2008, 146A:1009-1016.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 1009-1016
-
-
Coffey, S.M.1
Cook, K.2
Tartaglia, N.3
-
24
-
-
33750335320
-
Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome
-
Cohen S., Masyn K., Adams J., et al. Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome. Neurology 2006, 67:1426-1431.
-
(2006)
Neurology
, vol.67
, pp. 1426-1431
-
-
Cohen, S.1
Masyn, K.2
Adams, J.3
-
25
-
-
18444361806
-
Prevalence of the fragile X syndrome in African-Americans
-
Crawford D.C., Meadows K.L., Newman J.L., et al. Prevalence of the fragile X syndrome in African-Americans. Am J Med Genet 2002, 110:226-233.
-
(2002)
Am J Med Genet
, vol.110
, pp. 226-233
-
-
Crawford, D.C.1
Meadows, K.L.2
Newman, J.L.3
-
26
-
-
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.
-
(2004)
JAMA
, vol.292
, pp. 1685-1686
-
-
Deng, H.1
Le, W.2
Jankovic, J.3
-
27
-
-
0029435462
-
Prevalence of Parkinson's disease in the elderly: the Rotterdam Study
-
de Rijk M.C., Breteler M.M., Graveland G.A., et al. Prevalence of Parkinson's disease in the elderly: the Rotterdam Study. Neurology 1995, 45:2143-2146.
-
(1995)
Neurology
, vol.45
, pp. 2143-2146
-
-
de Rijk, M.C.1
Breteler, M.M.2
Graveland, G.A.3
-
28
-
-
0031013848
-
Prevalence of parkinsonism and Parkinson's disease in Europe: the EUROPARKINSON Collaborative Study. European Community Concerted Action on the Epidemiology of Parkinson's disease
-
de Rijk M.C., Tzourio C., Breteler M.M., et al. Prevalence of parkinsonism and Parkinson's disease in Europe: the EUROPARKINSON Collaborative Study. European Community Concerted Action on the Epidemiology of Parkinson's disease. J Neurol Neurosurg Psychiatry 1997, 62:10-15.
-
(1997)
J Neurol Neurosurg Psychiatry
, vol.62
, pp. 10-15
-
-
de Rijk, M.C.1
Tzourio, C.2
Breteler, M.M.3
-
29
-
-
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 M.L., et al. 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 2002, 11:371-378.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 371-378
-
-
Dombrowski, C.1
Levesque, S.2
Morel, M.L.3
-
31
-
-
61449155615
-
Treatment of fragile-X-associated tremor/ataxia syndrome with deep brain stimulation
-
Ferrara J.M., Adam O.R., Ondo W.G. Treatment of fragile-X-associated tremor/ataxia syndrome with deep brain stimulation. Mov Disord 2009, 24:149-151.
-
(2009)
Mov Disord
, vol.24
, pp. 149-151
-
-
Ferrara, J.M.1
Adam, O.R.2
Ondo, W.G.3
-
32
-
-
0036049412
-
Myotonic dystrophy type 2
-
Finsterer J. Myotonic dystrophy type 2. Eur J Neurol 2002, 9:441-447.
-
(2002)
Eur J Neurol
, vol.9
, pp. 441-447
-
-
Finsterer, J.1
-
33
-
-
0032541268
-
Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1
-
Franke P., Leboyer M., Gansicke M., et al. Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1. Psychiatry Res 1998, 80:113-127.
-
(1998)
Psychiatry Res
, vol.80
, pp. 113-127
-
-
Franke, P.1
Leboyer, M.2
Gansicke, M.3
-
34
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox
-
Fu Y.H., Kuhl D.P., Pizzuti A., et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991, 67:1047-1058.
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.H.1
Kuhl, D.P.2
Pizzuti, A.3
-
35
-
-
77953884301
-
Advances in understanding the molecular basis of FXTAS. Human molecular genetics
-
Garcia-Arocena D., Hagerman P.J. Advances in understanding the molecular basis of FXTAS. Human molecular genetics. Hum Mol Genet 2010, 19:R83-R89.
-
(2010)
Hum Mol Genet
, vol.19
-
-
Garcia-Arocena, D.1
Hagerman, P.J.2
-
36
-
-
77949444730
-
Fibroblast phenotype in male carriers of FMR1 premutation alleles
-
Garcia-Arocena D., Yang J.E., Brouwer J.R., et al. Fibroblast phenotype in male carriers of FMR1 premutation alleles. Hum Mol Genet 2010, 19:299-312.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 299-312
-
-
Garcia-Arocena, D.1
Yang, J.E.2
Brouwer, J.R.3
-
37
-
-
8544257311
-
Fragile X gene premutation in multiple system atrophy
-
Garland E.M., Vnencak-Jones C.L., Biaggioni I., et al. Fragile X gene premutation in multiple system atrophy. J Neurol Sci 2004, 227:115-118.
-
(2004)
J Neurol Sci
, vol.227
, pp. 115-118
-
-
Garland, E.M.1
Vnencak-Jones, C.L.2
Biaggioni, I.3
-
38
-
-
0033081705
-
Consensus statement on the diagnosis of multiple system atrophy
-
Gilman S., Low P.A., Quinn N., et al. Consensus statement on the diagnosis of multiple system atrophy. J Neurol Sci 1999, 163:94-98.
-
(1999)
J Neurol Sci
, vol.163
, pp. 94-98
-
-
Gilman, S.1
Low, P.A.2
Quinn, N.3
-
39
-
-
65649138779
-
Peripheral nervous system pathology in fragile X tremor/ataxia syndrome (FXTAS)
-
Gokden M., Al-Hinti J.T., Harik S.I. Peripheral nervous system pathology in fragile X tremor/ataxia syndrome (FXTAS). Neuropathology 2008, 29:280-284.
-
(2008)
Neuropathology
, vol.29
, pp. 280-284
-
-
Gokden, M.1
Al-Hinti, J.T.2
Harik, S.I.3
-
40
-
-
0036345801
-
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
-
Greco C.M., Hagerman R.J., Tassone F., et al. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 2002, 125:1760-1771.
-
(2002)
Brain
, vol.125
, pp. 1760-1771
-
-
Greco, C.M.1
Hagerman, R.J.2
Tassone, F.3
-
41
-
-
30344473617
-
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Greco C.M., Berman R.F., Martin R.M., et al. Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain 2006, 129:243-255.
-
(2006)
Brain
, vol.129
, pp. 243-255
-
-
Greco, C.M.1
Berman, R.F.2
Martin, R.M.3
-
42
-
-
33947268037
-
Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome
-
Greco C.M., Soontrapornchai K., Wirojanan J., et al. Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome. J Urol 2007, 177:1434-1437.
-
(2007)
J Urol
, vol.177
, pp. 1434-1437
-
-
Greco, C.M.1
Soontrapornchai, K.2
Wirojanan, J.3
-
43
-
-
49449111126
-
Clinical and neuropathologic findings in a woman with the FMR1 premutation and multiple sclerosis
-
Greco C.M., Tassone F., Garcia-Arocena D., et al. Clinical and neuropathologic findings in a woman with the FMR1 premutation and multiple sclerosis. Arch Neurol 2008, 65:1114-1116.
-
(2008)
Arch Neurol
, vol.65
, pp. 1114-1116
-
-
Greco, C.M.1
Tassone, F.2
Garcia-Arocena, D.3
-
44
-
-
33750343705
-
Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Grigsby J., Brega A.G., Jacquemont S., et al. Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS). J Neurol Sci 2006, 248:227-233.
-
(2006)
J Neurol Sci
, vol.248
, pp. 227-233
-
-
Grigsby, J.1
Brega, A.G.2
Jacquemont, S.3
-
45
-
-
39049106972
-
Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome
-
Grigsby J., Brega A.G., Engle K., et al. Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome. Neuropsychology 2008, 22:48-60.
-
(2008)
Neuropsychology
, vol.22
, pp. 48-60
-
-
Grigsby, J.1
Brega, A.G.2
Engle, K.3
-
46
-
-
50049086691
-
The fragile X prevalence paradox
-
Hagerman P.J. The fragile X prevalence paradox. J Med Genet 2008, 45:498-499.
-
(2008)
J Med Genet
, vol.45
, pp. 498-499
-
-
Hagerman, P.J.1
-
47
-
-
2342635196
-
The fragile-X premutation: a maturing perspective
-
Hagerman P.J., Hagerman R.J. The fragile-X premutation: a maturing perspective. Am J Hum Genet 2004, 74:805-816.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 805-816
-
-
Hagerman, P.J.1
Hagerman, R.J.2
-
48
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
-
Hagerman R.J., 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, R.J.1
Leehey, M.2
Heinrichs, W.3
-
49
-
-
2342453253
-
Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation
-
Hagerman R.J., Leavitt B.R., Farzin F., et al. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet 2004, 74:1051-1056.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 1051-1056
-
-
Hagerman, R.J.1
Leavitt, B.R.2
Farzin, F.3
-
50
-
-
34848862790
-
Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome
-
Hagerman R.J., Coffey S.M., Maselli R., et al. Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome. Am J Med Genet A 2007, 143A:2256-2260.
-
(2007)
Am J Med Genet A
, vol.143 A
, pp. 2256-2260
-
-
Hagerman, R.J.1
Coffey, S.M.2
Maselli, R.3
-
51
-
-
47849090388
-
Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems
-
Hagerman R.J., Hall D.A., Coffey S., et al. Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems. Clin Interv Aging 2008, 3:251-262.
-
(2008)
Clin Interv Aging
, vol.3
, pp. 251-262
-
-
Hagerman, R.J.1
Hall, D.A.2
Coffey, S.3
-
52
-
-
85026141310
-
Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS)
-
Hall D.A., 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.
-
(2005)
Neurology
, vol.65
, pp. 299-301
-
-
Hall, D.A.1
Berry-Kravis, E.2
Jacquemont, S.3
-
53
-
-
33645696348
-
Prevalence of FMR1 repeat expansions in movement disorders. A systematic review
-
Hall D.A., Hagerman R.J., Hagerman P.J., et al. Prevalence of FMR1 repeat expansions in movement disorders. A systematic review. Neuroepidemiology 2006, 26:151-155.
-
(2006)
Neuroepidemiology
, vol.26
, pp. 151-155
-
-
Hall, D.A.1
Hagerman, R.J.2
Hagerman, P.J.3
-
54
-
-
33750986764
-
Symptomatic treatment in the fragile X-associated tremor/ataxia syndrome
-
Hall D.A., Berry-Kravis E., Hagerman R.J., et al. Symptomatic treatment in the fragile X-associated tremor/ataxia syndrome. Mov Disord 2006, 21:1741-1744.
-
(2006)
Mov Disord
, vol.21
, pp. 1741-1744
-
-
Hall, D.A.1
Berry-Kravis, E.2
Hagerman, R.J.3
-
55
-
-
27644483475
-
Abnormal elevation of FMR1 mrna is associated with psychological symptoms in individuals with the fragile X premutation
-
Hessl D., Tassone F., Loesch D.Z., et al. Abnormal elevation of FMR1 mrna is associated with psychological symptoms in individuals with the fragile X premutation. Am J Med Genet B Neuropsychiatr Genet 2005, 139:115-121.
-
(2005)
Am J Med Genet B Neuropsychiatr Genet
, vol.139
, pp. 115-121
-
-
Hessl, D.1
Tassone, F.2
Loesch, D.Z.3
-
56
-
-
85009332113
-
Unified Huntington's Disease Rating Scale: reliability and consistency
-
Huntington Study Group
-
Huntington Study Group Unified Huntington's Disease Rating Scale: reliability and consistency. Mov Disord 1996, 11:136-142.
-
(1996)
Mov Disord
, vol.11
, pp. 136-142
-
-
-
57
-
-
30344441794
-
Protein composition of the intranuclear inclusions of FXTAS
-
Iwahashi C.K., Yasui D.H., An H.J., et al. Protein composition of the intranuclear inclusions of FXTAS. Brain 2006, 129:256-271.
-
(2006)
Brain
, vol.129
, pp. 256-271
-
-
Iwahashi, C.K.1
Yasui, D.H.2
An, H.J.3
-
58
-
-
0037384643
-
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates
-
Jacquemont S., Hagerman R.J., Leehey M., et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet 2003, 72:869-878.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 869-878
-
-
Jacquemont, S.1
Hagerman, R.J.2
Leehey, M.3
-
59
-
-
9144252520
-
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population
-
Jacquemont S., Hagerman R.J., Leehey M.A., et al. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA 2004, 291:460-469.
-
(2004)
JAMA
, vol.291
, pp. 460-469
-
-
Jacquemont, S.1
Hagerman, R.J.2
Leehey, M.A.3
-
60
-
-
12144289389
-
Aging in individuals with the FMR1 mutation
-
Jacquemont S., Farzin F., Hall D., et al. Aging in individuals with the FMR1 mutation. Am J Ment Retard 2004, 109:154-164.
-
(2004)
Am J Ment Retard
, vol.109
, pp. 154-164
-
-
Jacquemont, S.1
Farzin, F.2
Hall, D.3
-
61
-
-
23944455582
-
Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS?
-
Jacquemont S., Orrico A., Galli L., et al. Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS?. J Med Genet 2005, 42:e14.
-
(2005)
J Med Genet
, vol.42
-
-
Jacquemont, S.1
Orrico, A.2
Galli, L.3
-
62
-
-
33749010659
-
Size bias of fragile X premutation alleles in late-onset movement disorders
-
Jacquemont S., Leehey M.A., Hagerman R.J., et al. Size bias of fragile X premutation alleles in late-onset movement disorders. J Med Genet 2006, 43:804-809.
-
(2006)
J Med Genet
, vol.43
, pp. 804-809
-
-
Jacquemont, S.1
Leehey, M.A.2
Hagerman, R.J.3
-
63
-
-
33845323746
-
Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1
-
Jacquemont S., Hagerman R.J., Hagerman P.J., et al. Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet Neurol 2007, 6:45-55.
-
(2007)
Lancet Neurol
, vol.6
, pp. 45-55
-
-
Jacquemont, S.1
Hagerman, R.J.2
Hagerman, P.J.3
-
64
-
-
12344337045
-
A multicenter, double-blind, placebo controlled trial of topiramate in essential tremor
-
Jankovic J., Ondo W.G., Stacy M.A., et al. A multicenter, double-blind, placebo controlled trial of topiramate in essential tremor. Mov Disord 2004, 19:S448-S449.
-
(2004)
Mov Disord
, vol.19
-
-
Jankovic, J.1
Ondo, W.G.2
Stacy, M.A.3
-
65
-
-
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.
-
(2007)
Neuron
, vol.55
, pp. 556-564
-
-
Jin, P.1
Duan, R.2
Qurashi, A.3
-
66
-
-
23444442557
-
The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group
-
Kamm C., Healy D.G., Quinn N.P., et al. The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group. Brain 2005, 128:1855-1860.
-
(2005)
Brain
, vol.128
, pp. 1855-1860
-
-
Kamm, C.1
Healy, D.G.2
Quinn, N.P.3
-
67
-
-
44449102182
-
Fragile X associated tremor/ataxia syndrome (FXTAS) with dementia in a female harbouring FMR1 premutation
-
Karmon Y., Gadoth N. Fragile X associated tremor/ataxia syndrome (FXTAS) with dementia in a female harbouring FMR1 premutation. J Neurol Neurosurg Psychiatry 2008, 79:738-739.
-
(2008)
J Neurol Neurosurg Psychiatry
, vol.79
, pp. 738-739
-
-
Karmon, Y.1
Gadoth, N.2
-
68
-
-
0037229944
-
The fragile X premutation presenting as essential tremor
-
Leehey M.A., Munhoz R.P., Lang A.E., et al. The fragile X premutation presenting as essential tremor. Arch Neurol 2003, 60:117-121.
-
(2003)
Arch Neurol
, vol.60
, pp. 117-121
-
-
Leehey, M.A.1
Munhoz, R.P.2
Lang, A.E.3
-
69
-
-
42049113610
-
FMR1 CGG repeat length predicts motor dysfunction in premutation carriers
-
Leehey M.A., Berry-Kravis E., Goetz C.G., et al. FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. Neurology 2008, 70:1397-1402.
-
(2008)
Neurology
, vol.70
, pp. 1397-1402
-
-
Leehey, M.A.1
Berry-Kravis, E.2
Goetz, C.G.3
-
70
-
-
0038521838
-
Tremor/ataxia syndrome in fragile X carrier males
-
Leehey M., Hagerman R.J., Landau W.M., et al. Tremor/ataxia syndrome in fragile X carrier males. Mov Disord 2002, 17:744-745.
-
(2002)
Mov Disord
, vol.17
, pp. 744-745
-
-
Leehey, M.1
Hagerman, R.J.2
Landau, W.M.3
-
71
-
-
0032231414
-
Acquired hepatocerebral degeneration: MR and pathologic findings
-
Lee J., Lacomis D., Comu S., et al. Acquired hepatocerebral degeneration: MR and pathologic findings. AJNR Am J Neuroradiol 1998, 19:485-487.
-
(1998)
AJNR Am J Neuroradiol
, vol.19
, pp. 485-487
-
-
Lee, J.1
Lacomis, D.2
Comu, S.3
-
73
-
-
17644421040
-
Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond
-
Loesch D.Z., Churchyard A., Brotchie P., et al. Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond. Clin Genet 2005, 67:412-417.
-
(2005)
Clin Genet
, vol.67
, pp. 412-417
-
-
Loesch, D.Z.1
Churchyard, A.2
Brotchie, P.3
-
74
-
-
23244441878
-
Magnetic resonance imaging study in older fragile X premutation male carriers
-
Loesch D.Z., Litewka L., Brotchie P., et al. Magnetic resonance imaging study in older fragile X premutation male carriers. Ann Neurol 2005, 58:326-330.
-
(2005)
Ann Neurol
, vol.58
, pp. 326-330
-
-
Loesch, D.Z.1
Litewka, L.2
Brotchie, P.3
-
75
-
-
0031984875
-
How common is the most common adult movement disorder? Estimates of the prevalence of essential tremor throughout the world
-
Louis E.D., Ottman R., Hauser W.A. How common is the most common adult movement disorder? Estimates of the prevalence of essential tremor throughout the world. Mov Disord 1998, 13:5-10.
-
(1998)
Mov Disord
, vol.13
, pp. 5-10
-
-
Louis, E.D.1
Ottman, R.2
Hauser, W.A.3
-
76
-
-
0038281167
-
Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia
-
Macpherson J., Waghorn A., Hammans S., et al. Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia. Hum Genet 2003, 112:619-620.
-
(2003)
Hum Genet
, vol.112
, pp. 619-620
-
-
Macpherson, J.1
Waghorn, A.2
Hammans, S.3
-
78
-
-
1542378696
-
Fragile X carrier screening and spinocerebellar ataxia in older males
-
Milunsky J.M., Maher T.A. Fragile X carrier screening and spinocerebellar ataxia in older males. Am J Med Genet A 2004, 125A:320.
-
(2004)
Am J Med Genet A
, vol.125 A
, pp. 320
-
-
Milunsky, J.M.1
Maher, T.A.2
-
79
-
-
4544387060
-
A neuropsychological investigation of male premutation carriers of fragile X syndrome
-
Moore C.J., Daly E.M., Schmitz N., et al. A neuropsychological investigation of male premutation carriers of fragile X syndrome. Neuropsychologia 2004, 42:1934-1947.
-
(2004)
Neuropsychologia
, vol.42
, pp. 1934-1947
-
-
Moore, C.J.1
Daly, E.M.2
Schmitz, N.3
-
80
-
-
4544347583
-
The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy
-
Moore C.J., Daly E.M., Tassone F., et al. The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy. Brain 2004, 127:2672-2681.
-
(2004)
Brain
, vol.127
, pp. 2672-2681
-
-
Moore, C.J.1
Daly, E.M.2
Tassone, F.3
-
81
-
-
0029433185
-
Epidemiology of ALS
-
Nelson L.M. Epidemiology of ALS. Clin Neurosci 1996, 3:327-331.
-
(1996)
Clin Neurosci
, vol.3
, pp. 327-331
-
-
Nelson, L.M.1
-
82
-
-
0026339303
-
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
-
Oberle I., Rousseau F., Heitz D., et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991, 252:1097-1102.
-
(1991)
Science
, vol.252
, pp. 1097-1102
-
-
Oberle, I.1
Rousseau, F.2
Heitz, D.3
-
84
-
-
33244462169
-
Intrafamilial variability in fragile X-associated tremor/ataxia syndrome
-
Peters N., Kamm C., Asmus F., et al. Intrafamilial variability in fragile X-associated tremor/ataxia syndrome. Mov Disord 2006, 21:98-102.
-
(2006)
Mov Disord
, vol.21
, pp. 98-102
-
-
Peters, N.1
Kamm, C.2
Asmus, F.3
-
85
-
-
0025833298
-
Absence of expression of the FMR-1 gene in fragile X syndrome
-
Pieretti M., Zhang F.P., Fu Y.H., et al. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 1991, 66:817-822.
-
(1991)
Cell
, vol.66
, pp. 817-822
-
-
Pieretti, M.1
Zhang, F.P.2
Fu, Y.H.3
-
86
-
-
0025876335
-
Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study
-
Polo J.M., Calleja J., Combarros O., et al. Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study. Brain 1991, 114:855-866.
-
(1991)
Brain
, vol.114
, pp. 855-866
-
-
Polo, J.M.1
Calleja, J.2
Combarros, O.3
-
87
-
-
10444254814
-
The fragile X premutation presenting as postprandial hypotension
-
Pugliese P., Annesi G., Cutuli N., et al. The fragile X premutation presenting as postprandial hypotension. Neurology 2004, 63:2188-2189.
-
(2004)
Neurology
, vol.63
, pp. 2188-2189
-
-
Pugliese, P.1
Annesi, G.2
Cutuli, N.3
-
88
-
-
2342461060
-
Myotonic dystrophy: RNA pathogenesis comes into focus
-
Ranum L.P., Day J.W. Myotonic dystrophy: RNA pathogenesis comes into focus. Am J Hum Genet 2004, 74:793-804.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 793-804
-
-
Ranum, L.P.1
Day, J.W.2
-
89
-
-
74249089729
-
Molecular pathogenesis of fragile X-associated tremor/ataxia syndrome
-
Raske C., Hagerman P.J. Molecular pathogenesis of fragile X-associated tremor/ataxia syndrome. J Investig Med 2009, 57:825-829.
-
(2009)
J Investig Med
, vol.57
, pp. 825-829
-
-
Raske, C.1
Hagerman, P.J.2
-
90
-
-
0031978146
-
Phenotypic involvement in females with the FMR1 gene mutation
-
Riddle J.E., Cheema A., Sobesky W.E., et al. Phenotypic involvement in females with the FMR1 gene mutation. Am J Ment Retard 1998, 102:590-601.
-
(1998)
Am J Ment Retard
, vol.102
, pp. 590-601
-
-
Riddle, J.E.1
Cheema, A.2
Sobesky, W.E.3
-
91
-
-
77949377354
-
Riluzole in cerebellar ataxia: a randomized, double-blind, placebo-controlled pilot trial
-
Ristori G., Romano S., Visconti A., et al. Riluzole in cerebellar ataxia: a randomized, double-blind, placebo-controlled pilot trial. Neurology 2010, 74:839-845.
-
(2010)
Neurology
, vol.74
, pp. 839-845
-
-
Ristori, G.1
Romano, S.2
Visconti, A.3
-
92
-
-
0031813412
-
Clinical usefulness of magnetic resonance imaging in multiple system atrophy
-
Schrag A., Kingsley D., Phatouros C., et al. Clinical usefulness of magnetic resonance imaging in multiple system atrophy. J Neurol Neurosurg Psychiatry 1998, 65:65-71.
-
(1998)
J Neurol Neurosurg Psychiatry
, vol.65
, pp. 65-71
-
-
Schrag, A.1
Kingsley, D.2
Phatouros, C.3
-
93
-
-
0033589692
-
Prevalence of progressive supranuclear palsy and multiple system atrophy: a cross-sectional study
-
Schrag A., Ben-Shlomo Y., Quinn N.P. Prevalence of progressive supranuclear palsy and multiple system atrophy: a cross-sectional study. Lancet 1999, 354:1771-1775.
-
(1999)
Lancet
, vol.354
, pp. 1771-1775
-
-
Schrag, A.1
Ben-Shlomo, Y.2
Quinn, N.P.3
-
94
-
-
0028237295
-
Obstetrical and gynecological complications in fragile X carriers: a multicenter study
-
Schwartz C.E., Dean J., Howard-Peebles P.N., et al. Obstetrical and gynecological complications in fragile X carriers: a multicenter study. Am J Med Genet 1994, 51:400-402.
-
(1994)
Am J Med Genet
, vol.51
, pp. 400-402
-
-
Schwartz, C.E.1
Dean, J.2
Howard-Peebles, P.N.3
-
95
-
-
21644486998
-
FXTAS, SCA10, and SCA17 in American patients with movement disorders
-
Seixas A.I., Maurer M.H., Lin M., et al. FXTAS, SCA10, and SCA17 in American patients with movement disorders. Am J Med Genet A 2005, 136:87-89.
-
(2005)
Am J Med Genet A
, vol.136
, pp. 87-89
-
-
Seixas, A.I.1
Maurer, M.H.2
Lin, M.3
-
96
-
-
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.
-
(2010)
EMBO J
, vol.29
, pp. 1248-1261
-
-
Sellier, C.1
Rau, F.2
Liu, Y.3
-
97
-
-
55349132387
-
Dementia in fragile X-associated tremor/ataxia syndrome (FXTAS): comparison with Alzheimer's disease
-
Seritan A.L., Nguyen D.V., Farias S.T., et al. Dementia in fragile X-associated tremor/ataxia syndrome (FXTAS): comparison with Alzheimer's disease. Am J Med Genet B Neuropsychiatr Genet 2008, 147B:1138-1144.
-
(2008)
Am J Med Genet B Neuropsychiatr Genet
, vol.147 B
, pp. 1138-1144
-
-
Seritan, A.L.1
Nguyen, D.V.2
Farias, S.T.3
-
98
-
-
70449441433
-
Conversion disorder in women with the FMR1 premutation
-
Seritan A.L., Schneider A., Olichney J.M., et al. Conversion disorder in women with the FMR1 premutation. Am J Med Genet A 2009, 149A:2501-2506.
-
(2009)
Am J Med Genet A
, vol.149 A
, pp. 2501-2506
-
-
Seritan, A.L.1
Schneider, A.2
Olichney, J.M.3
-
100
-
-
0027525069
-
Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population
-
Snow K., Doud L.K., Hagerman R., et al. Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population. Am J Hum Genet 1993, 53:1217-1228.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 1217-1228
-
-
Snow, K.1
Doud, L.K.2
Hagerman, R.3
-
101
-
-
34547697173
-
RNA-binding proteins hnrnp A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS
-
Sofola O.A., 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.
-
(2007)
Neuron
, vol.55
, pp. 565-571
-
-
Sofola, O.A.1
Jin, P.2
Qin, Y.3
-
102
-
-
85044702643
-
Screening for fragile X syndrome: a literature review and modelling study
-
Song F.J., Barton P., Sleightholme V., et al. Screening for fragile X syndrome: a literature review and modelling study. Health Technol Assess 2003, 7:1-106.
-
(2003)
Health Technol Assess
, vol.7
, pp. 1-106
-
-
Song, F.J.1
Barton, P.2
Sleightholme, V.3
-
103
-
-
42249108884
-
Abnormal nerve conduction features in fragile X premutation carriers
-
Soontarapornchai K., Maselli R., Fenton-Farrell G., et al. Abnormal nerve conduction features in fragile X premutation carriers. Arch Neurol 2008, 65:495-498.
-
(2008)
Arch Neurol
, vol.65
, pp. 495-498
-
-
Soontarapornchai, K.1
Maselli, R.2
Fenton-Farrell, G.3
-
104
-
-
0022389050
-
Prevalence and pattern of spinocerebellar degenerations in northeastern Libya
-
Sridharan R., Radhakrishnan K., Ashok P.P., et al. Prevalence and pattern of spinocerebellar degenerations in northeastern Libya. Brain 1985, 108:831-843.
-
(1985)
Brain
, vol.108
, pp. 831-843
-
-
Sridharan, R.1
Radhakrishnan, K.2
Ashok, P.P.3
-
105
-
-
11444266321
-
Increased T2 signal in the middle cerebellar peduncles on MRI is not specific for fragile X premutation syndrome
-
Storey E., Billimoria P. Increased T2 signal in the middle cerebellar peduncles on MRI is not specific for fragile X premutation syndrome. J Clin Neurosci 2005, 12:42-43.
-
(2005)
J Clin Neurosci
, vol.12
, pp. 42-43
-
-
Storey, E.1
Billimoria, P.2
-
106
-
-
3242774429
-
Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort
-
Tan E.K., Zhao Y., Puong K.Y., 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, E.K.1
Zhao, Y.2
Puong, K.Y.3
-
107
-
-
0033612144
-
FMRP expression as a potential prognostic indicator in fragile X syndrome
-
Tassone F., Hagerman R.J., Ikle D.N., et al. FMRP expression as a potential prognostic indicator in fragile X syndrome. Am J Med Genet 1999, 84:250-261.
-
(1999)
Am J Med Genet
, vol.84
, pp. 250-261
-
-
Tassone, F.1
Hagerman, R.J.2
Ikle, D.N.3
-
108
-
-
0033940157
-
Elevated levels of FMR1 mrna in carrier males: a new mechanism of involvement in the fragile-X syndrome
-
Tassone F., Hagerman R.J., Taylor A.K., 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.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 6-15
-
-
Tassone, F.1
Hagerman, R.J.2
Taylor, A.K.3
-
109
-
-
0034526068
-
Transcription of the FMR1 gene in individuals with fragile X syndrome
-
Tassone F., Hagerman R.J., Chamberlain W.D., et al. Transcription of the FMR1 gene in individuals with fragile X syndrome. Am J Med Genet 2000, 97:195-203.
-
(2000)
Am J Med Genet
, vol.97
, pp. 195-203
-
-
Tassone, F.1
Hagerman, R.J.2
Chamberlain, W.D.3
-
110
-
-
0034684031
-
Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA
-
Tassone F., Hagerman R.J., Loesch D.Z., et al. Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA. Am J Med Genet 2000, 94:232-236.
-
(2000)
Am J Med Genet
, vol.94
, pp. 232-236
-
-
Tassone, F.1
Hagerman, R.J.2
Loesch, D.Z.3
-
111
-
-
0034016083
-
Clinical involvement and protein expression in individuals with the FMR1 premutation
-
Tassone F., Hagerman R.J., Taylor A.K., et al. Clinical involvement and protein expression in individuals with the FMR1 premutation. Am J Med Genet 2000, 91:144-152.
-
(2000)
Am J Med Genet
, vol.91
, pp. 144-152
-
-
Tassone, F.1
Hagerman, R.J.2
Taylor, A.K.3
-
112
-
-
2342578152
-
Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome
-
Tassone F., Hagerman R.J., Garcia-Arocena D., et al. Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome. J Med Genet 2004, 41:e43.
-
(2004)
J Med Genet
, vol.41
-
-
Tassone, F.1
Hagerman, R.J.2
Garcia-Arocena, D.3
-
113
-
-
23944431645
-
FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Tassone F., Iwahashi C., Hagerman P.J. FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS). RNA Biol 2004, 1:103-105.
-
(2004)
RNA Biol
, vol.1
, pp. 103-105
-
-
Tassone, F.1
Iwahashi, C.2
Hagerman, P.J.3
-
114
-
-
34250869612
-
CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Tassone F., Adams J., Berry-Kravis E.M., et al. CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS). Am J Med Genet B Neuropsychiatr Genet 2007, 144:566-569.
-
(2007)
Am J Med Genet B Neuropsychiatr Genet
, vol.144
, pp. 566-569
-
-
Tassone, F.1
Adams, J.2
Berry-Kravis, E.M.3
-
116
-
-
12244306251
-
Premutation alleles and fragile X-associated tremor/ataxia syndrome
-
author reply 96-97
-
Toft M., Farrer M. Premutation alleles and fragile X-associated tremor/ataxia syndrome. JAMA 2005, 293:296. author reply 96-97.
-
(2005)
JAMA
, vol.293
, pp. 296
-
-
Toft, M.1
Farrer, M.2
-
118
-
-
0033017569
-
Incidence and prevalence of ALS in Ireland, 1995-1997: a population-based study
-
Traynor B.J., Codd M.B., Forde C., et al. Incidence and prevalence of ALS in Ireland, 1995-1997: a population-based study. Neurology 1999, 52:504-509.
-
(1999)
Neurology
, vol.52
, pp. 504-509
-
-
Traynor, B.J.1
Codd, M.B.2
Forde, C.3
-
119
-
-
0029924873
-
Prevalence of fragile X syndrome
-
Turner G., Webb T., Wake S., et al. Prevalence of fragile X syndrome. Am J Med Genet 1996, 64:196-197.
-
(1996)
Am J Med Genet
, vol.64
, pp. 196-197
-
-
Turner, G.1
Webb, T.2
Wake, S.3
-
120
-
-
27744516098
-
Epidemiological evidence on multiple system atrophy
-
Vanacore N. Epidemiological evidence on multiple system atrophy. J Neural Transm 2005, 112:1605-1612.
-
(2005)
J Neural Transm
, vol.112
, pp. 1605-1612
-
-
Vanacore, N.1
-
121
-
-
0037675042
-
Incidence of Parkinson's disease: variation by age, gender, and race/ethnicity
-
Van Den Eeden S.K., Tanner C.M., Bernstein A.L., et al. Incidence of Parkinson's disease: variation by age, gender, and race/ethnicity. Am J Epidemiol 2003, 157:1015-1022.
-
(2003)
Am J Epidemiol
, vol.157
, pp. 1015-1022
-
-
Van Den Eeden, S.K.1
Tanner, C.M.2
Bernstein, A.L.3
-
122
-
-
0037066111
-
Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis
-
van de Warrenburg B.P., Sinke R.J., Verschuuren-Bemelmans C.C., et al. Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. Neurology 2002, 58:702-708.
-
(2002)
Neurology
, vol.58
, pp. 702-708
-
-
van de Warrenburg, B.P.1
Sinke, R.J.2
Verschuuren-Bemelmans, C.C.3
-
123
-
-
19944434329
-
Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia
-
Van Esch H., Dom R., Bex D., et al. Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia. Eur J Hum Genet 2005, 13:121-123.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 121-123
-
-
Van Esch, H.1
Dom, R.2
Bex, D.3
-
124
-
-
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 A.J., Pieretti M., Sutcliffe J.S., 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, 65:905-914.
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.J.1
Pieretti, M.2
Sutcliffe, J.S.3
-
126
-
-
76449105593
-
Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation
-
Wenzel H.J., Hunsaker M.R., Greco C.M., et al. Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation. Brain Res 2010, 1318:155-166.
-
(2010)
Brain Res
, vol.1318
, pp. 155-166
-
-
Wenzel, H.J.1
Hunsaker, M.R.2
Greco, C.M.3
-
127
-
-
0026347628
-
Fragile X genotype characterized by an unstable region of DNA
-
Yu S., Pritchard M., Kremer E., et al. Fragile X genotype characterized by an unstable region of DNA. Science 1991, 252:1179-1181.
-
(1991)
Science
, vol.252
, pp. 1179-1181
-
-
Yu, S.1
Pritchard, M.2
Kremer, E.3
-
128
-
-
58449097555
-
Treatment of imbalance with varenicline Chantix(R): report of a patient with fragile X tremor/ataxia syndrome
-
Zesiewicz T.A., Sullivan K.L., Freeman A., et al. Treatment of imbalance with varenicline Chantix(R): report of a patient with fragile X tremor/ataxia syndrome. Acta Neurol Scand 2009, 119:135-138.
-
(2009)
Acta Neurol Scand
, vol.119
, pp. 135-138
-
-
Zesiewicz, T.A.1
Sullivan, K.L.2
Freeman, A.3
-
129
-
-
68549090883
-
Subjective improvement in proprioception in 2 patients with atypical Friedreich ataxia treated with varenicline (Chantix)
-
Zesiewicz T.A., Sullivan K.L., Gooch C.L., et al. Subjective improvement in proprioception in 2 patients with atypical Friedreich ataxia treated with varenicline (Chantix). J Clin Neuromuscul Dis 2009, 10:191-193.
-
(2009)
J Clin Neuromuscul Dis
, vol.10
, pp. 191-193
-
-
Zesiewicz, T.A.1
Sullivan, K.L.2
Gooch, C.L.3
-
130
-
-
12744259994
-
FMR1 premutation as a rare cause of late onset ataxia - evidence for FXTAS in female carriers
-
Zuhlke C., Budnik A., Gehlken U., et al. FMR1 premutation as a rare cause of late onset ataxia - evidence for FXTAS in female carriers. J Neurol 2004, 251:1418-1419.
-
(2004)
J Neurol
, vol.251
, pp. 1418-1419
-
-
Zuhlke, C.1
Budnik, A.2
Gehlken, U.3
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