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Items: 1 to 20 of 143

1.

[Analysis of fragile X mental retardation 1 gene premutation in multiple system atrophy patients].

Zhang LW, Gu WH, Wang GX, Chen YY, Hao Y, Zhang J, Wang K, Jin M.

Zhonghua Yi Xue Za Zhi. 2013 Dec 17;93(47):3744-7. Chinese.

PMID:
24548388
2.

FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy.

Biancalana V, Toft M, Le Ber I, Tison F, Scherrer E, Thibodeau S, Mandel JL, Brice A, Farrer MJ, Dürr A.

Arch Neurol. 2005 Jun;62(6):962-6.

PMID:
15956167
3.

The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group.

Kamm C, Healy DG, Quinn NP, Wüllner U, Moller JC, Schols L, Geser F, Burk K, Børglum AD, Pellecchia MT, Tolosa E, del Sorbo F, Nilsson C, Bandmann O, Sharma M, Mayer P, Gasteiger M, Haworth A, Ozawa T, Lees AJ, Short J, Giunti P, Holinski-Feder E, Illig T, Wichmann HE, Wenning GK, Wood NW, Gasser T; European Multiple System Atrophy Study Group.

Brain. 2005 Aug;128(Pt 8):1855-60. Epub 2005 Jun 9.

PMID:
15947063
4.

Fragile X-associated tremor/ataxia syndrome: influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles.

Wang JY, Hessl D, Schneider A, Tassone F, Hagerman RJ, Rivera SM.

JAMA Neurol. 2013 Aug;70(8):1022-9. doi: 10.1001/jamaneurol.2013.2934.

5.

Size bias of fragile X premutation alleles in late-onset movement disorders.

Jacquemont S, Leehey MA, Hagerman RJ, Beckett LA, Hagerman PJ.

J Med Genet. 2006 Oct;43(10):804-9. Epub 2006 May 24.

6.

Preliminary evidence of an effect of cerebellar volume on postural sway in FMR1 premutation males.

Birch RC, Hocking DR, Cornish KM, Menant JC, Georgiou-Karistianis N, Godler DE, Wen W, Hackett A, Rogers C, Trollor JN.

Genes Brain Behav. 2015 Mar;14(3):251-9. doi: 10.1111/gbb.12204. Epub 2015 Mar 25.

7.

Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene.

Loesch DZ, Sherwell S, Kinsella G, Tassone F, Taylor A, Amor D, Sung S, Evans A.

Clin Genet. 2012 Jul;82(1):88-92. doi: 10.1111/j.1399-0004.2011.01675.x. Epub 2011 Apr 28.

PMID:
21476992
8.

Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers.

Hall D, Tassone F, Klepitskaya O, Leehey M.

Mov Disord. 2012 Feb;27(2):296-300. doi: 10.1002/mds.24021. Epub 2011 Dec 11.

9.

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes.

Seixas AI, Vale J, Jorge P, Marques I, Santos R, Alonso I, Fortuna AM, Pinto-Basto J, Coutinho P, Margolis RL, Sequeiros J, Silveira I.

Behav Brain Funct. 2011 Jun 3;7:19. doi: 10.1186/1744-9081-7-19.

10.

Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS).

Adams JS, Adams PE, Nguyen D, Brunberg JA, Tassone F, Zhang W, Koldewyn K, Rivera SM, Grigsby J, Zhang L, DeCarli C, Hagerman PJ, Hagerman RJ.

Neurology. 2007 Aug 28;69(9):851-9.

PMID:
17724287
11.

Identification of FXTAS presenting with SCA 12 like phenotype in India.

Faruq M, Srivastava AK, Suroliya V, Kumar D, Garg A, Shukla G, Behari M.

Parkinsonism Relat Disord. 2014 Oct;20(10):1089-93. doi: 10.1016/j.parkreldis.2014.07.001. Epub 2014 Jul 17.

PMID:
25085749
12.

Fragile X-associated tremor/ataxia syndrome: intrafamilial variability and the size of the FMR1 premutation CGG repeat.

Capelli LP, Gonçalves MR, Kok F, Leite CC, Nitrini R, Barbosa ER, Vianna-Morgante AM.

Mov Disord. 2007 Apr 30;22(6):866-70.

PMID:
17290448
13.

A Japanese case of fragile-X-associated tremor/ataxia syndrome (FXTAS).

Ishii K, Hosaka A, Adachi K, Nanba E, Tamaoka A.

Intern Med. 2010;49(12):1205-8. Epub 2010 Jun 15.

15.

Fragile X associated tremor/ataxia syndrome (FXTAS) with dementia in a female harbouring FMR1 premutation.

Karmon Y, Gadoth N.

J Neurol Neurosurg Psychiatry. 2008 Jun;79(6):738-9. doi: 10.1136/jnnp.2007.139642. No abstract available.

PMID:
18487560
16.

Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers.

Liu Y, Winarni TI, Zhang L, Tassone F, Hagerman RJ.

Clin Genet. 2013 Jul;84(1):74-7. doi: 10.1111/cge.12026. Epub 2012 Oct 17.

17.

A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population.

Lorefice L, Tranquilli S, Fenu G, Murru MR, Frau J, Rolesu M, Coghe GC, Marrosu F, Marrosu MG, Cocco E.

Neurol Sci. 2015 Dec;36(12):2213-20. doi: 10.1007/s10072-015-2339-2. Epub 2015 Jul 21.

PMID:
26194536
18.

Fragile X-associated tremor/ataxia syndrome: An under-recognised cause of tremor and ataxia.

Kalus S, King J, Lui E, Gaillard F.

J Clin Neurosci. 2016 Jan;23:162-4. doi: 10.1016/j.jocn.2015.08.010. Epub 2015 Oct 2.

PMID:
26439425
19.

Fragile X-associated tremor/ataxia syndrome (FXTAS).

Hagerman PJ, Hagerman RJ.

Ment Retard Dev Disabil Res Rev. 2004;10(1):25-30. Review.

PMID:
14994285
20.

Fragile X premutation carriers: A systematic review of neuroimaging findings.

Brown SS, Stanfield AC.

J Neurol Sci. 2015 May 15;352(1-2):19-28. doi: 10.1016/j.jns.2015.03.031. Epub 2015 Mar 27. Review.

PMID:
25847019

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