-
1
-
-
9144252520
-
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population
-
Jacquemont S, Hagerman RJ, Leehey MA, et al. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA. 2004;291(4):460-469.
-
(2004)
JAMA
, vol.291
, Issue.4
, pp. 460-469
-
-
Jacquemont, S.1
Hagerman, R.J.2
Leehey, M.A.3
-
2
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
-
Hagerman RJ, Leehey M, Heinrichs W, et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology. 2001;57(1):127-130.
-
(2001)
Neurology
, vol.57
, Issue.1
, pp. 127-130
-
-
Hagerman, R.J.1
Leehey, M.2
Heinrichs, W.3
-
3
-
-
0037384643
-
Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates
-
Jacquemont S, Hagerman RJ, Leehey M, et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet. 2003;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
-
4
-
-
0037229944
-
The fragile X premutation presenting as essential tremor
-
Leehey MA, Munhoz RP, Lang AE, et al. The fragile X premutation presenting as essential tremor. Arch Neurol. 2003;60(1):117-121.
-
(2003)
Arch Neurol
, vol.60
, Issue.1
, pp. 117-121
-
-
Leehey, M.A.1
Munhoz, R.P.2
Lang, A.E.3
-
5
-
-
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. Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in fragile X syndrome. Am J Hum Genet. 2000;66(1):6-15.
-
(2000)
Am J Hum Genet
, vol.66
, Issue.1
, 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
-
6
-
-
2542507386
-
A study of the distributional characteristics of FMR1 transcript levels in 238 individuals
-
Allen EG, He W, Yadav-Shah M, Sherman SL. A study of the distributional characteristics of FMR1 transcript levels in 238 individuals. Hum Genet. 2004;114(5):439-447.
-
(2004)
Hum Genet
, vol.114
, Issue.5
, pp. 439-447
-
-
Allen, E.G.1
He, W.2
Yadav-Shah, M.3
Sherman, S.L.4
-
7
-
-
2342635196
-
-
Hagerman PJ, Hagerman RJ. The fragile-X premutation: a maturing perspective [published correction appears in Am J Hum Genet. 2004;75(2):352]. Am J Hum Genet. 2004;74(5):805-816.
-
Hagerman PJ, Hagerman RJ. The fragile-X premutation: a maturing perspective [published correction appears in Am J Hum Genet. 2004;75(2):352]. Am J Hum Genet. 2004;74(5):805-816.
-
-
-
-
8
-
-
30344473617
-
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Greco CM, Berman RF, Martin RM, et al. Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain. 2006;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
-
9
-
-
30344441794
-
Protein composition of the intranuclear inclusions of FXTAS
-
Iwahashi CK, Yasui DH, An HJ, et al. Protein composition of the intranuclear inclusions of FXTAS. Brain. 2006;129(pt 1):256-271.
-
(2006)
Brain
, vol.129
, Issue.PART 1
, pp. 256-271
-
-
Iwahashi, C.K.1
Yasui, D.H.2
An, H.J.3
-
10
-
-
33847761463
-
Progression of tremor and ataxia in male carriers of the FMR1 premutation
-
Leehey MA, Berry-Kravis E, Min SJ, et al. Progression of tremor and ataxia in male carriers of the FMR1 premutation. Mov Disord. 2007;22(2):203-206.
-
(2007)
Mov Disord
, vol.22
, Issue.2
, pp. 203-206
-
-
Leehey, M.A.1
Berry-Kravis, E.2
Min, S.J.3
-
11
-
-
0031978146
-
Phenotypic involvement in females with the FMR1 gene mutation
-
Riddle JE, Cheema A, Sobesky WE, et al. Phenotypic involvement in females with the FMR1 gene mutation. Am J Ment Retard. 1998;102(6):590-601.
-
(1998)
Am J Ment Retard
, vol.102
, Issue.6
, pp. 590-601
-
-
Riddle, J.E.1
Cheema, A.2
Sobesky, W.E.3
-
12
-
-
33846000314
-
Neuropathic features in fragile X premutation carriers
-
Berry-Kravis E, Goetz CG, Leehey MA, et al. Neuropathic features in fragile X premutation carriers. Am J Med Genet A. 2007;143(1):19-26.
-
(2007)
Am J Med Genet A
, vol.143
, Issue.1
, pp. 19-26
-
-
Berry-Kravis, E.1
Goetz, C.G.2
Leehey, M.A.3
-
13
-
-
34848862790
-
Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Hagerman RJ, Coffey SM, Maselli R, et al. Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome (FXTAS). Am J Med Genet A. 2007;143(19):2256-2260.
-
(2007)
Am J Med Genet A
, vol.143
, Issue.19
, pp. 2256-2260
-
-
Hagerman, R.J.1
Coffey, S.M.2
Maselli, R.3
-
14
-
-
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(8):1426-1431.
-
(2006)
Neurology
, vol.67
, Issue.8
, pp. 1426-1431
-
-
Cohen, S.1
Masyn, K.2
Adams, J.3
-
15
-
-
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, et al. Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells. Hum Mol Genet. 2005;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
-
16
-
-
0037211466
-
The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene
-
Chaouch M, Allal Y, De Sandre-Giovannoli A, et al. The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene. Neuromuscul Disord. 2003;13(1):60-67.
-
(2003)
Neuromuscul Disord
, vol.13
, Issue.1
, pp. 60-67
-
-
Chaouch, M.1
Allal, Y.2
De Sandre-Giovannoli, A.3
|