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Items: 1 to 20 of 42

1.

Age- and CGG repeat-related slowing of manual movement in fragile X carriers: A prodrome of fragile X-associated tremor ataxia syndrome?

Shickman R, Famula J, Tassone F, Leehey M, Ferrer E, Rivera SM, Hessl D.

Mov Disord. 2018 Apr;33(4):628-636. doi: 10.1002/mds.27314. Epub 2018 Feb 1.

PMID:
29389022
2.

Plasma metabolic profile delineates roles for neurodegeneration, pro-inflammatory damage and mitochondrial dysfunction in the FMR1 premutation.

Giulivi C, Napoli E, Tassone F, Halmai J, Hagerman R.

Biochem J. 2016 Nov 1;473(21):3871-3888. Epub 2016 Aug 23.

PMID:
27555610
3.

Screening for intermediate CGG alleles of FMR1 gene in male Iranian patients with Parkinsonism.

Entezari A, Khaniani MS, Bahrami T, Derakhshan SM, Darvish H.

Neurol Sci. 2017 Jan;38(1):123-128. doi: 10.1007/s10072-016-2723-6. Epub 2016 Oct 1.

PMID:
27696273
4.

Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders.

Robertson EE, Hall DA, McAsey AR, O'Keefe JA.

Clin Neuropsychol. 2016 Aug;30(6):849-900. doi: 10.1080/13854046.2016.1202239. Review.

PMID:
27414076
5.

Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series.

Debrey SM, Leehey MA, Klepitskaya O, Filley CM, Shah RC, Kluger B, Berry-Kravis E, Spector E, Tassone F, Hall DA.

Cerebellum. 2016 Oct;15(5):623-31. doi: 10.1007/s12311-016-0809-6.

PMID:
27372099
6.

The Long Non-Coding RNAs in Neurodegenerative Diseases: Novel Mechanisms of Pathogenesis.

Riva P, Ratti A, Venturin M.

Curr Alzheimer Res. 2016;13(11):1219-1231. Review.

7.

Peripheral neuropathy and parkinsonism: a large clinical and pathogenic spectrum.

Vital A, Lepreux S, Vital C.

J Peripher Nerv Syst. 2014 Dec;19(4):333-42. doi: 10.1111/jns.12099. Review.

PMID:
25582874
8.

Implications of polyadenylation in health and disease.

Curinha A, Oliveira Braz S, Pereira-Castro I, Cruz A, Moreira A.

Nucleus. 2014;5(6):508-19. doi: 10.4161/nucl.36360. Epub 2014 Oct 31. Review.

9.

Concomitant fragile X-associated tremor ataxia syndrome and Parkinson's disease: a clinicopathological report of two cases.

De Pablo-Fernandez E, Doherty KM, Holton JL, Revesz T, Djamshidian A, Limousin P, Bhatia KP, Warner TT, Lees AJ, Ling H.

J Neurol Neurosurg Psychiatry. 2015 Aug;86(8):934-6. doi: 10.1136/jnnp-2014-309460. Epub 2014 Dec 4. No abstract available.

10.

Relevance of corpus callosum splenium versus middle cerebellar peduncle hyperintensity for FXTAS diagnosis in clinical practice.

Renaud M, Perriard J, Coudray S, Sévin-Allouet M, Marcel C, Meissner WG, Chanson JB, Collongues N, Philippi N, Gebus O, Quenardelle V, Castrioto A, Krack P, N'Guyen K, Lefebvre F, Echaniz-Laguna A, Azulay JP, Meyer N, Labauge P, Tranchant C, Anheim M.

J Neurol. 2015 Feb;262(2):435-42. doi: 10.1007/s00415-014-7557-7. Epub 2014 Dec 2.

PMID:
25451852
11.

Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): revisited.

Niu YQ, Yang JC, Hall DA, Leehey MA, Tassone F, Olichney JM, Hagerman RJ, Zhang L.

Parkinsonism Relat Disord. 2014 Apr;20(4):456-9. doi: 10.1016/j.parkreldis.2014.01.006. Epub 2014 Jan 18.

12.

White matter changes in patients with Parkinson's disease carrying small CGG expansion FMR1 alleles: a pilot study.

Trost N, Cook M, Hammersley E, Bui MQ, Brotchie P, Burgess T, Slater H, Storey E, Loesch DZ.

Neurodegener Dis. 2014;14(2):67-76. doi: 10.1159/000356190. Epub 2013 Dec 24.

PMID:
24401315
13.

Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases.

Satoh J, Kawana N, Yamamoto Y.

Gene Regul Syst Bio. 2013 Nov 4;7:139-52. doi: 10.4137/GRSB.S13204. eCollection 2013.

14.

MicroRNA expression profiling in blood from fragile X-associated tremor/ataxia syndrome patients.

Alvarez-Mora MI, Rodriguez-Revenga L, Madrigal I, Torres-Silva F, Mateu-Huertas E, Lizano E, Friedländer MR, Martí E, Estivill X, Milà M.

Genes Brain Behav. 2013 Aug;12(6):595-603. doi: 10.1111/gbb.12061. Epub 2013 Jul 24.

15.

Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations.

Puschmann A.

Parkinsonism Relat Disord. 2013 Apr;19(4):407-15. doi: 10.1016/j.parkreldis.2013.01.020. Epub 2013 Feb 23. Review.

PMID:
23462481
16.

Fragile x-associated tremor ataxia syndrome: the expanding clinical picture, pathophysiology, epidemiology, and update on treatment.

Hall DA, O'keefe JA.

Tremor Other Hyperkinet Mov (N Y). 2012;2. pii: tre-02-56-352-1. doi: 10.7916/D8HD7TDS. Epub 2012 May 11.

17.

The 3' UTR of FMR1 mRNA is a target of miR-101, miR-129-5p and miR-221: implications for the molecular pathology of FXTAS at the synapse.

Zongaro S, Hukema R, D'Antoni S, Davidovic L, Barbry P, Catania MV, Willemsen R, Mari B, Bardoni B.

Hum Mol Genet. 2013 May 15;22(10):1971-82. doi: 10.1093/hmg/ddt044. Epub 2013 Feb 5.

PMID:
23390134
18.

New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease.

Loesch DZ, Tassone F, Lo J, Slater HR, Hills LV, Bui MQ, Silburn PA, Mellick GD.

Clin Genet. 2013 Oct;84(4):382-5. doi: 10.1111/cge.12070. Epub 2012 Dec 25.

PMID:
23198693
19.

FXTAS: new insights and the need for revised diagnostic criteria.

Apartis E, Blancher A, Meissner WG, Guyant-Maréchal L, Maltête D, De Broucker T, Legrand AP, Bouzenada H, Thanh HT, Sallansonnet-Froment M, Wang A, Tison F, Roué-Jagot C, Sedel F, Charles P, Whalen S, Héron D, Thobois S, Poisson A, Lesca G, Ouvrard-Hernandez AM, Fraix V, Palfi S, Habert MO, Gaymard B, Dussaule JC, Pollak P, Vidailhet M, Durr A, Barbot JC, Gourlet V, Brice A, Anheim M.

Neurology. 2012 Oct 30;79(18):1898-907. doi: 10.1212/WNL.0b013e318271f7ff. Epub 2012 Oct 17.

PMID:
23077007
20.

FMR1 gray-zone alleles: association with Parkinson's disease in women?

Hall DA, Berry-Kravis E, Zhang W, Tassone F, Spector E, Zerbe G, Hagerman PJ, Ouyang B, Leehey MA.

Mov Disord. 2011 Aug 15;26(10):1900-6. doi: 10.1002/mds.23755. Epub 2011 May 12.

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