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1
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21644487262
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OMIM Adres
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OMIM Adres: http://WWW.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309550.
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2
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0037084852
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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
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Dombrowski C., Levesque S., Morel M.L. 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.
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Dombrowski, C.1
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3
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0141994818
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Fragile balance: FMR1 expression levels
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Oostra B.A., Willemsen R.A fragile balance: FMR1 expression levels. Hum Mol Genet 2003; 12: 249-257.
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Oostra, B.A.1
Willemsen, R.A.2
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4
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0035838379
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Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
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i wsp
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Hagerman R.J., Leehey M., Heinrichs W. i wsp. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001; 57: 127-130.
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(2001)
Neurology
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Hagerman, R.J.1
Leehey, M.2
Heinrichs, W.3
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5
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0037384643
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Fragile X premutation tremor/ataxia syndrome: Molecular, clinical and neuroimaging correlates
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i wsp
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Jacquemont S., Hagerman R.J., Leehey M. i wsp. Fragile X premutation tremor/ataxia syndrome: molecular, clinical and neuroimaging correlates. Am J Hum Genet 2003; 72: 869-878.
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Am. J. Hum. Genet.
, vol.72
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Jacquemont, S.1
Hagerman, R.J.2
Leehey, M.3
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6
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9144252520
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Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population
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i wsp
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Jacquemont S., Hagerman R.J., Leehey M.A. i wsp. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA 2004; 291: 460-469.
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JAMA
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Jacquemont, S.1
Hagerman, R.J.2
Leehey, M.A.3
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7
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0038754166
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Tremor and ataxia in fragile X premutation carriers: Blinded videotape study
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i wsp
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Berry-Kravis E., Lewin F., Wuu J. i wsp. Tremor and ataxia in fragile X premutation carriers: blinded videotape study. Ann Neurol 2003; 53: 616-623.
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Ann. Neurol.
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Berry-Kravis, E.1
Lewin, F.2
Wuu, J.3
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8
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0037229944
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The fragile X premutation presenting as essential tremor
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i wsp
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Leehey M.A., Munhoz R.P., Lang A.E. i wsp. The fragile X premutation presenting as essential tremor. Arch Neurol 2003; 60: 117-121.
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Arch. Neurol.
, vol.60
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Leehey, M.A.1
Munhoz, R.P.2
Lang, A.E.3
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9
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0038281167
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Observation of an excess of fragile-X premutations in population of males referred with spinocerebellar ataxia
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i wsp
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Macpherson J., Waghorn A., Hammans S. i wsp. Observation of an excess of fragile-X premutations in population of males referred with spinocerebellar ataxia. Hum Genet 2003; 112: 619-620.
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Hum. Genet.
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Macpherson, J.1
Waghorn, A.2
Hammans, S.3
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10
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0041630707
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Tremor, ataxia and dementia in older men may indicate a carrier of the fragile X syndrome
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Rogers C., Partington M.W., Turner G.M. Tremor, ataxia and dementia in older men may indicate a carrier of the fragile X syndrome. Clin Genet 2003; 64: 54-56.
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Rogers, C.1
Partington, M.W.2
Turner, G.M.3
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11
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0036846189
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Fragile X premutation carriers: Characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction
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i wsp
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Brunberg J.A., Jacquemont S., Hagerman R.J. i wsp. Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR 2002; 23: 1757-1766.
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AJNR
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Brunberg, J.A.1
Jacquemont, S.2
Hagerman, R.J.3
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12
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0036345801
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Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
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i wsp
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Greco C.M., Hagerman R.J., Tassone F. i wsp. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 2002; 125: 1760-1771.
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(2002)
Brain
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Greco, C.M.1
Hagerman, R.J.2
Tassone, F.3
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13
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0036918690
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Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations
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i wsp
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Primerano B., Tassone F., Hagerman R.J. i wsp. Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. RNA 2002; 8: 1482-1488.
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(2002)
RNA
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Primerano, B.1
Tassone, F.2
Hagerman, R.J.3
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14
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0036591683
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The fragile X premutation: Into the phenotypic fold
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Hagerman R.J., Hagerman P.J. The fragile X premutation: into the phenotypic fold. Curr Opin Genet Dev 2002; 12: 278-283.
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Curr. Opin. Genet. Dev.
, vol.12
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Hagerman, R.J.1
Hagerman, P.J.2
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15
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0033940157
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Elevated levels of FMR 1 mRNA in carrier males: A new mechanism of involvement in the fragile X syndrome
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i wsp
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Tassone F., Hagerman R.J., Taylor A.K. i wsp. Elevated levels of FMR 1 mRNA in carrier males: a new mechanism of involvement in the fragile X syndrome. Am J Hum Genet 2000; 66: 6-15.
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(2000)
Am. J. Hum. Genet.
, vol.66
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Tassone, F.1
Hagerman, R.J.2
Taylor, A.K.3
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16
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14944385602
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Parkinsonism, FXTAS and FMR1 premutation
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i wsp
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Toft M., Aasly J., Bisceglio G. i wsp. Parkinsonism, FXTAS and FMR1 premutation. Mov Disord 2005; 20: 230-233.
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Mov. Disord.
, vol.20
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Toft, M.1
Aasly, J.2
Bisceglio, G.3
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17
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2342635196
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The fragile-X premutation: A maturing perspective
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Hagerman P.J., Hagerman R.J. The fragile-X premutation: a maturing perspective. Am J Hum Genet 2004; 74: 805-816.
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(2004)
Am. J. Hum. Genet.
, vol.74
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Hagerman, P.J.1
Hagerman, R.J.2
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