-
1
-
-
34548209247
-
Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Adams, J. S. et al. 2007. Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS). Neurology 67:851-859.
-
(2007)
Neurology
, vol.67
, pp. 851-859
-
-
Adams, J.S.1
-
2
-
-
77949854405
-
Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers
-
Adams, P. et al. 2009. Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers. Am J Med Genet 153B:775-778.
-
(2009)
Am J Med Genet
, vol.153 B
, pp. 775-778
-
-
Adams, P.1
-
3
-
-
11144233958
-
Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation
-
Berry-Kravis, E. et al. 2005. Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation. Ann Neurol 57:144-147.
-
(2005)
Ann Neurol
, vol.57
, pp. 144-147
-
-
Berry-Kravis, E.1
-
4
-
-
33846000314
-
Neuropathic features in fragile X premutation carriers
-
Berry-Kravis, E. et al. 2007. Neuropathic features in fragile X premutation carriers. Am J Med Genet A 143:19-26.
-
(2007)
Am J Med Genet A
, vol.143
, pp. 19-26
-
-
Berry-Kravis, E.1
-
5
-
-
33646723545
-
Dementia with mood symptoms in a fragile X premutation carrier with the fragile X-associated tremor/ataxia syndrome: Clinical intervention with donepezil and venlafaxine
-
Bourgeois, J. A. et al. 2006. Dementia with mood symptoms in a fragile X premutation carrier with the fragile X-associated tremor/ataxia syndrome: clinical intervention with donepezil and venlafaxine. J Neuropsychiatry Clin Neurosci 18:171-177.
-
(2006)
J Neuropsychiatry Clin Neurosci
, vol.18
, pp. 171-177
-
-
Bourgeois, J.A.1
-
6
-
-
34250750659
-
Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome
-
Bourgeois, J. A. et al. 2007. Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome. Gen Hosp Psychiatry 29:349-356.
-
(2007)
Gen Hosp Psychiatry
, vol.29
, pp. 349-356
-
-
Bourgeois, J.A.1
-
7
-
-
54349095417
-
The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome
-
Brega, A. G. et al. 2008. The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome. J Clin Exp Neuropsychol 30:853-860.
-
(2008)
J Clin Exp Neuropsychol
, vol.30
, pp. 853-860
-
-
Brega, A.G.1
-
8
-
-
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. et al. 2008. Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome. Psychoneuroendocrinology 33:863-873.
-
(2008)
Psychoneuroendocrinology
, vol.33
, pp. 863-873
-
-
Brouwer, J.R.1
-
9
-
-
0036846189
-
Fragile X premutation carriers: Characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction
-
Brunberg, J. A. et al. 2002. Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. Am J Neuroradiol 23:1757-1766.
-
(2002)
Am J Neuroradiol
, vol.23
, pp. 1757-1766
-
-
Brunberg, J.A.1
-
10
-
-
34249095727
-
Fragile X-associated tremor/ataxia syndrome: Intrafamilial variability and the size of the FMR1 premutation CGG repeat
-
Capelli, L. P. et al. 2007. Fragile X-associated tremor/ataxia syndrome: intrafamilial variability and the size of the FMR1 premutation CGG repeat. Mov Disord 22:866-870.
-
(2007)
Mov Disord
, vol.22
, pp. 866-870
-
-
Capelli, L.P.1
-
11
-
-
33747161000
-
Fragile X premutation with atypical symptoms at onset
-
Cellini, E. et al. 2006. Fragile X premutation with atypical symptoms at onset. Arch Neurol 63:1135-1138.
-
(2006)
Arch Neurol
, vol.63
, pp. 1135-1138
-
-
Cellini, E.1
-
12
-
-
42949147652
-
Expanded clinical phenotype of women with the FMR1 premutation
-
Coffey, S. M. et al. 2008. Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A 146A:1009-1016.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 1009-1016
-
-
Coffey, S.M.1
-
13
-
-
44249106115
-
Age-dependent cognitive changes in carriers of the fragile X syndrome
-
Cornish, K. M. et al. 2008. Age-dependent cognitive changes in carriers of the fragile X syndrome. Cortex 44:628-636.
-
(2008)
Cortex
, vol.44
, pp. 628-636
-
-
Cornish, K.M.1
-
14
-
-
0025967195
-
Heterozygous fragile X female: Historical, physical, cognitive, and cytogenetic features
-
Cronister, A. et al. 1991. Heterozygous fragile X female: historical, physical, cognitive, and cytogenetic features. Am J Med Genet 38:269-274.
-
(1991)
Am J Med Genet
, vol.38
, pp. 269-274
-
-
Cronister, A.1
-
15
-
-
0029899583
-
Fragile-X carrier females: Evidence for a distinct psychopathological phenotype?
-
Franke, P. et al. 1996. Fragile-X carrier females: evidence for a distinct psychopathological phenotype? Am J Med Genet 64:334-339.
-
(1996)
Am J Med Genet
, vol.64
, pp. 334-339
-
-
Franke, P.1
-
16
-
-
0032541268
-
Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1
-
Franke, P. et al. 1998. Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1. Psychiatry Res 80:113-127.
-
(1998)
Psychiatry Res
, vol.80
, pp. 113-127
-
-
Franke, P.1
-
17
-
-
0033081705
-
Consensus statement on the diagnosis of multiple system atrophy
-
Gilman, S. et al. 1999. Consensus statement on the diagnosis of multiple system atrophy. J Neurol Sci 163:94-98.
-
(1999)
J Neurol Sci
, vol.163
, pp. 94-98
-
-
Gilman, S.1
-
18
-
-
52449086856
-
Second consensus statement on the diagnosis of multiple system atrophy
-
Gilman, S. et al. 2008. Second consensus statement on the diagnosis of multiple system atrophy. Neurology 71:670-676.
-
(2008)
Neurology
, vol.71
, pp. 670-676
-
-
Gilman, S.1
-
19
-
-
65649138779
-
Peripheral nervous system pathology in fragile X tremor/ataxia syndrome (FXTAS)
-
Gokden, M. et al. 2008. Peripheral nervous system pathology in fragile X tremor/ataxia syndrome (FXTAS). Neuropathology 29:280-284.
-
(2008)
Neuropathology
, vol.29
, pp. 280-284
-
-
Gokden, M.1
-
20
-
-
34248994548
-
Atypical clinical course of FXTAS: Rapidly progressive dementia as the major symptom
-
Goncalves, M. R. et al. 2007. Atypical clinical course of FXTAS: rapidly progressive dementia as the major symptom. Neurology 68:1864-1866.
-
(2007)
Neurology
, vol.68
, pp. 1864-1866
-
-
Goncalves, M.R.1
-
21
-
-
0036345801
-
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
-
Greco, C. M. et al. 2002. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 125:1760-1771.
-
(2002)
Brain
, vol.125
, pp. 1760-1771
-
-
Greco, C.M.1
-
22
-
-
30344473617
-
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Greco, C. M. et al. 2006. Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain 129:243-255.
-
(2006)
Brain
, vol.129
, pp. 243-255
-
-
Greco, C.M.1
-
23
-
-
33947268037
-
Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome
-
Greco, C. M. et al. 2007. Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome. J Urol 177:1434-1437.
-
(2007)
J Urol
, vol.177
, pp. 1434-1437
-
-
Greco, C.M.1
-
24
-
-
39049106972
-
Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome
-
Grigsby, J. et al. 2008. Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome. Neuropsychology 22:48-60.
-
(2008)
Neuropsychology
, vol.22
, pp. 48-60
-
-
Grigsby, J.1
-
25
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
-
Hagerman, R. J. et al. 2001. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57:127-130.
-
(2001)
Neurology
, vol.57
, pp. 127-130
-
-
Hagerman, R.J.1
-
26
-
-
2342453253
-
Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation
-
Hagerman, R. J. et al. 2004. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet 74:1051-1056.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 1051-1056
-
-
Hagerman, R.J.1
-
27
-
-
34848862790
-
Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome
-
Hagerman, R. J. et al. 2007. Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome. Am J Med Genet A 143A:2256-2260.
-
(2007)
Am J Med Genet A
, vol.143 A
, pp. 2256-2260
-
-
Hagerman, R.J.1
-
28
-
-
2342635196
-
The fragile-X premutation: A maturing perspective
-
Hagerman, P. J., Hagerman, R. J. 2004. The fragile-X premutation: a maturing perspective. Am J Hum Genet 74:805-816.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 805-816
-
-
Hagerman, P.J.1
Hagerman, R.J.2
-
29
-
-
85026141310
-
Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS)
-
Hall, D. A. et al. 2005. Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS). Neurology 65:299-301.
-
(2005)
Neurology
, vol.65
, pp. 299-301
-
-
Hall, D.A.1
-
30
-
-
58349111158
-
Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease
-
Hall, D. A. et al. 2009. Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease. Parkinsonism Relat Disord 15:156-159.
-
(2009)
Parkinsonism Relat Disord
, vol.15
, pp. 156-159
-
-
Hall, D.A.1
-
31
-
-
27644483475
-
Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation
-
Hessl, D. et al. 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 139:115-121.
-
(2005)
Am J Med Genet B Neuropsychiatr Genet
, vol.139
, pp. 115-121
-
-
Hessl, D.1
-
32
-
-
85009332113
-
Unified Huntington's disease rating scale: Reliability and consistency
-
Huntington Study Group. 1996. Unified Huntington's disease rating scale: reliability and consistency. Mov Disord 11:136-142.
-
(1996)
Mov Disord
, vol.11
, pp. 136-142
-
-
Huntington Study Group1
-
33
-
-
0037384643
-
Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates
-
Jacquemont, S. et al. 2003. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet 72:869-878.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 869-878
-
-
Jacquemont, S.1
-
34
-
-
9144252520
-
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population
-
Jacquemont, S. et al. 2004. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. J Am Med Assoc 291:460-469.
-
(2004)
J Am Med Assoc
, vol.291
, pp. 460-469
-
-
Jacquemont, S.1
-
35
-
-
23944455582
-
Spastic paraparesis, cerebellar ataxia, and intention tremor: A severe variant of FXTAS?
-
Jacquemont, S. et al. 2005. Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS? J Med Genet 42:e14.
-
(2005)
J Med Genet
, vol.42
, pp. e14
-
-
Jacquemont, S.1
-
36
-
-
33749010659
-
Size bias of fragile X premutation alleles in late-onset movement disorders
-
Jacquemont, S. et al. 2006. Size bias of fragile X premutation alleles in late-onset movement disorders. J Med Genet 43:804-809.
-
(2006)
J Med Genet
, vol.43
, pp. 804-809
-
-
Jacquemont, S.1
-
37
-
-
23444442557
-
The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: Data from the EMSA study group
-
Kamm, C. et al. 2005. The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA study group. Brain 128:1855-1860.
-
(2005)
Brain
, vol.128
, pp. 1855-1860
-
-
Kamm, C.1
-
38
-
-
44449102182
-
Fragile X associated tremor/ataxia syndrome (FXTAS) with dementia in a female harbouring FMR1 premutation
-
Karmon, Y., Gadoth, N. 2008. Fragile X associated tremor/ataxia syndrome (FXTAS) with dementia in a female harbouring FMR1 premutation. J Neurol Neurosurg Psychiatr 79:738-739.
-
(2008)
J Neurol Neurosurg Psychiatr
, vol.79
, pp. 738-739
-
-
Karmon, Y.1
Gadoth, N.2
-
39
-
-
0038521838
-
A tremor/ataxia syndrome in fragile X carrier males
-
Leehey, M. A. et al. 2002. A tremor/ataxia syndrome in fragile X carrier males. Mov Disord 17:744-745.
-
(2002)
Mov Disord
, vol.17
, pp. 744-745
-
-
Leehey, M.A.1
-
40
-
-
0037229944
-
The fragile X premutation presenting as essential tremor
-
Leehey, M. A. et al. 2003. The fragile X premutation presenting as essential tremor. Arch Neurol 60:117-121.
-
(2003)
Arch Neurol
, vol.60
, pp. 117-121
-
-
Leehey, M.A.1
-
41
-
-
33847761463
-
Progression of tremor and ataxia in male carriers of the FMR1 premutation
-
Leehey, M. A. et al. 2007. Progression of tremor and ataxia in male carriers of the FMR1 premutation. Mov Disord 22:203-206.
-
(2007)
Mov Disord
, vol.22
, pp. 203-206
-
-
Leehey, M.A.1
-
42
-
-
42049113610
-
FMR1 CGG repeat length predicts motor dysfunction in premutation carriers
-
Leehey, M. A. et al. 2008. FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. Neurology 70:1397-1402.
-
(2008)
Neurology
, vol.70
, pp. 1397-1402
-
-
Leehey, M.A.1
-
43
-
-
17644421040
-
Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond
-
Loesch, D. Z. et al. 2005a. Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond. Clin Genet 67:412-417.
-
(2005)
Clin Genet
, vol.67
, pp. 412-417
-
-
Loesch, D.Z.1
-
44
-
-
23244441878
-
Magnetic resonance imaging study in older fragile X premutation male carriers
-
Loesch, D. Z. et al. 2005b. Magnetic resonance imaging study in older fragile X premutation male carriers. Ann Neurol 58:326-330.
-
(2005)
Ann Neurol
, vol.58
, pp. 326-330
-
-
Loesch, D.Z.1
-
45
-
-
33645538015
-
Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: A clinical-pathological study
-
Louis, E. et al. 2006. Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: a clinical-pathological study. Mov Disord 21:420-425.
-
(2006)
Mov Disord
, vol.21
, pp. 420-425
-
-
Louis, E.1
-
46
-
-
36448984927
-
Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders
-
McConkie-Rosell, A. et al. 2007. Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders. J Genet Couns 16:593-606.
-
(2007)
J Genet Couns
, vol.16
, pp. 593-606
-
-
McConkie-Rosell, A.1
-
47
-
-
4544387060
-
A neuropsychological investigation of male premutation carriers of fragile X syndrome
-
Moore, C. J. et al. 2004. A neuropsychological investigation of male premutation carriers of fragile X syndrome. Neuropsychologia 42:1934-1947.
-
(2004)
Neuropsychologia
, vol.42
, pp. 1934-1947
-
-
Moore, C.J.1
-
48
-
-
33244462169
-
Intrafamilial variability in fragile X-associated tremor/ataxia syndrome
-
Peters, N. et al. 2006. Intrafamilial variability in fragile X-associated tremor/ataxia syndrome. Mov Disord 21:98-102.
-
(2006)
Mov Disord
, vol.21
, pp. 98-102
-
-
Peters, N.1
-
49
-
-
10444254814
-
The fragile X premutation presenting as postprandial hypotension
-
Pugliese, P. et al. 2004. The fragile X premutation presenting as postprandial hypotension. Neurology 63:2188-2189.
-
(2004)
Neurology
, vol.63
, pp. 2188-2189
-
-
Pugliese, P.1
-
50
-
-
58849100848
-
Mood and anxiety disorders in females with the premutation
-
Roberts, J. E. et al. 2009. Mood and anxiety disorders in females with the premutation. Am J Med Genet 150B:130-139.
-
(2009)
Am J Med Genet
, vol.150 B
, pp. 130-139
-
-
Roberts, J.E.1
-
51
-
-
50349103445
-
Evidence of depressive symptoms in fragile-X syndrome premutated females
-
Rodriguez-Revenga, L. et al. 2008. Evidence of depressive symptoms in fragile-X syndrome premutated females. Psychiatr Genet 18:153-155.
-
(2008)
Psychiatr Genet
, vol.18
, pp. 153-155
-
-
Rodriguez-Revenga, L.1
-
52
-
-
55349132387
-
Dementia in fragile X-associated tremor/ataxia syndrome (FXTAS): Comparison with Alzheimer's disease
-
Seritan, A. L. et al. 2008. Dementia in fragile X-associated tremor/ataxia syndrome (FXTAS): comparison with Alzheimer's disease. Am J Med Genet B Neuropsychiatr Genet 147B:1138-1144.
-
(2008)
Am J Med Genet B Neuropsychiatr Genet
, vol.147 B
, pp. 1138-1144
-
-
Seritan, A.L.1
-
53
-
-
0029896683
-
Molecular/clinical correlations in females with fragile X
-
Sobesky, W. E. et al. 1996. Molecular/clinical correlations in females with fragile X. Am J Med Genet 64:340-345.
-
(1996)
Am J Med Genet
, vol.64
, pp. 340-345
-
-
Sobesky, W.E.1
-
54
-
-
42249108884
-
Abnormal nerve conduction features in fragile X premutation carriers
-
Soontarapornchai, K. et al. 2008. Abnormal nerve conduction features in fragile X premutation carriers. Arch Neurol 65:495-498.
-
(2008)
Arch Neurol
, vol.65
, pp. 495-498
-
-
Soontarapornchai, K.1
-
55
-
-
14044268841
-
Association of FMR1 repeat size with ovarian dysfunction
-
Sullivan, A. K. et al. 2005. Association of FMR1 repeat size with ovarian dysfunction. Hum Reprod 20:402-412.
-
(2005)
Hum Reprod
, vol.20
, pp. 402-412
-
-
Sullivan, A.K.1
-
56
-
-
34250869612
-
CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Tassone, F. et al. 2007. 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 144:566-569.
-
(2007)
Am J Med Genet B Neuropsychiatr Genet
, vol.144
, pp. 566-569
-
-
Tassone, F.1
-
57
-
-
4544294975
-
Evidence of early ovarian aging in fragile X premutation carriers
-
Welt, C. K. et al. 2004. Evidence of early ovarian aging in fragile X premutation carriers. J Clin Endocrinol Metab 89:4569-4574.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 4569-4574
-
-
Welt, C.K.1
-
58
-
-
40749100654
-
Primary ovarian insufficiency: A more accurate term for premature ovarian failure
-
Welt, C. K. 2008. Primary ovarian insufficiency: a more accurate term for premature ovarian failure. Clin Endocrinol (Oxf) 68:499-509.
-
(2008)
Clin Endocrinol (Oxf)
, vol.68
, pp. 499-509
-
-
Welt, C.K.1
-
59
-
-
33947168860
-
The FMR1 premutation and reproduction
-
Wittenberger, M. D. et al. 2007. The FMR1 premutation and reproduction. Fertil Steril 87:456-465.
-
(2007)
Fertil Steril
, vol.87
, pp. 456-465
-
-
Wittenberger, M.D.1
|