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Items: 1 to 20 of 234

1.

Fibromyalgia in fragile X mental retardation 1 gene premutation carriers.

Leehey MA, Legg W, Tassone F, Hagerman R.

Rheumatology (Oxford). 2011 Dec;50(12):2233-6. doi: 10.1093/rheumatology/ker273. Epub 2011 Sep 16.

2.

Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia.

Martorell L, Tondo M, Garcia-Fructuoso F, Naudo M, Alegre C, Gamez J, Genovés J, Poo P.

Clin Rheumatol. 2012 Nov;31(11):1611-5. doi: 10.1007/s10067-012-2052-y. Epub 2012 Aug 18.

PMID:
22903700
3.

Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).

O'Keefe JA, Robertson-Dick E, Dunn EJ, Li Y, Deng Y, Fiutko AN, Berry-Kravis E, Hall DA.

Cerebellum. 2015 Dec;14(6):650-62. doi: 10.1007/s12311-015-0659-7.

PMID:
25763861
4.
5.

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.

Jacquemont S, Hagerman RJ, Leehey MA, Hall DA, Levine RA, Brunberg JA, Zhang L, Jardini T, Gane LW, Harris SW, Herman K, Grigsby J, Greco CM, Berry-Kravis E, Tassone F, Hagerman PJ.

JAMA. 2004 Jan 28;291(4):460-9.

PMID:
14747503
6.

Screening for the presence of FMR1 premutation alleles in women with parkinsonism.

Cilia R, Kraff J, Canesi M, Pezzoli G, Goldwurm S, Amiri K, Tang HT, Pan R, Hagerman PJ, Tassone F.

Arch Neurol. 2009 Feb;66(2):244-9. doi: 10.1001/archneurol.2008.548.

PMID:
19204162
7.

FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.

Leehey MA, Berry-Kravis E, Goetz CG, Zhang L, Hall DA, Li L, Rice CD, Lara R, Cogswell J, Reynolds A, Gane L, Jacquemont S, Tassone F, Grigsby J, Hagerman RJ, Hagerman PJ.

Neurology. 2008 Apr 15;70(16 Pt 2):1397-402. Epub 2007 Dec 5.

8.

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.

Rodriguez-Revenga L, Madrigal I, Pagonabarraga J, Xunclà M, Badenas C, Kulisevsky J, Gomez B, Milà M.

Eur J Hum Genet. 2009 Oct;17(10):1359-62. doi: 10.1038/ejhg.2009.51. Epub 2009 Apr 15.

9.

Fibroblast phenotype in male carriers of FMR1 premutation alleles.

Garcia-Arocena D, Yang JE, Brouwer JR, Tassone F, Iwahashi C, Berry-Kravis EM, Goetz CG, Sumis AM, Zhou L, Nguyen DV, Campos L, Howell E, Ludwig A, Greco C, Willemsen R, Hagerman RJ, Hagerman PJ.

Hum Mol Genet. 2010 Jan 15;19(2):299-312. doi: 10.1093/hmg/ddp497. Epub 2009 Oct 28.

10.

Sleep apnea in fragile X premutation carriers with and without FXTAS.

Hamlin A, Liu Y, Nguyen DV, Tassone F, Zhang L, Hagerman RJ.

Am J Med Genet B Neuropsychiatr Genet. 2011 Dec;156B(8):923-8. doi: 10.1002/ajmg.b.31237. Epub 2011 Sep 19.

11.

High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome.

Basuta K, Schneider A, Gane L, Polussa J, Woodruff B, Pretto D, Hagerman R, Tassone F.

Am J Med Genet A. 2015 Sep;167A(9):2154-61. doi: 10.1002/ajmg.a.37125. Epub 2015 Apr 29.

PMID:
25920745
12.

Neuropsychiatry of fragile X-premutation carriers with and without fragile X-associated tremor-ataxia syndrome: implications for neuropsychology.

Bourgeois JA.

Clin Neuropsychol. 2016 Aug;30(6):913-28. doi: 10.1080/13854046.2016.1192134. Epub 2016 Jun 29. Review.

PMID:
27355575
13.

FXTAS in spanish patients with ataxia: support for female FMR1 premutation screening.

Rodriguez-Revenga L, Gómez-Anson B, Muñoz E, Jiménez D, Santos M, Tintoré M, Martín G, Brieva L, Milà M.

Mol Neurobiol. 2007 Jun;35(3):324-8.

PMID:
17917121
14.

Mapping self-reports of working memory deficits to executive dysfunction in Fragile X Mental Retardation 1 (FMR1) gene premutation carriers asymptomatic for FXTAS.

Kogan CS, Cornish KM.

Brain Cogn. 2010 Aug;73(3):236-43. doi: 10.1016/j.bandc.2010.05.008. Epub 2010 Jun 22.

PMID:
20573435
15.

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
16.

Expanded clinical phenotype of women with the FMR1 premutation.

Coffey SM, Cook K, Tartaglia N, Tassone F, Nguyen DV, Pan R, Bronsky HE, Yuhas J, Borodyanskaya M, Grigsby J, Doerflinger M, Hagerman PJ, Hagerman RJ.

Am J Med Genet A. 2008 Apr 15;146A(8):1009-16. doi: 10.1002/ajmg.a.32060.

17.

Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS).

Hamlin AA, Sukharev D, Campos L, Mu Y, Tassone F, Hessl D, Nguyen DV, Loesch D, Hagerman RJ.

Am J Med Genet A. 2012 Jun;158A(6):1304-9. doi: 10.1002/ajmg.a.35323. Epub 2012 Apr 23.

18.

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
19.

Skewed X Inactivation in Women Carrying the FMR1 Premutation and Its Relation with Fragile-X-Associated Tremor/Ataxia Syndrome.

Alvarez-Mora MI, Rodriguez-Revenga L, Feliu A, Badenas C, Madrigal I, Milà M.

Neurodegener Dis. 2016;16(3-4):290-2. doi: 10.1159/000441566. Epub 2015 Nov 27.

PMID:
26609701
20.

[Tremor/ataxia syndrome related to Fragile X premutation].

Sallansonnet-Froment M, De Greslan T, Roux X, Bounolleau P, Ouologuem M, Taillia H, Ricard D, Renard JL.

Presse Med. 2010 Feb;39(2):187-95. doi: 10.1016/j.lpm.2008.12.035. Epub 2009 May 5. French.

PMID:
19419833

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