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Items: 1 to 20 of 229

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.

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.

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.

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.

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.

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.

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.

PMID:
25920745
12.

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
13.
14.

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
15.

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.

16.

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.

17.

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.

PMID:
21476992
18.

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.

PMID:
26609701
19.

[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. French.

PMID:
19419833
20.

Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers.

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

Am J Med Genet B Neuropsychiatr Genet. 2010 Apr 5;153B(3):775-85. doi: 10.1002/ajmg.b.31046.

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