Loesch D, Chafota F, Bui M, Storey E, Atkinson A, Martin N
Mol Genet Genomic Med. 2024; 12(11):e70043.
PMID: 39588919
PMC: 11590032.
DOI: 10.1002/mgg3.70043.
Chen J, Zhao Y, Zhou X, Xue J, Xiao Q, Pan H
Front Aging Neurosci. 2023; 15:1234027.
PMID: 37583466
PMC: 10423993.
DOI: 10.3389/fnagi.2023.1234027.
Salcedo-Arellano M, Wolf-Ochoa M, Hong T, Amina S, Tassone F, Lechpammer M
Mov Disord Clin Pract. 2020; 7(4):413-418.
PMID: 32373658
PMC: 7197312.
DOI: 10.1002/mdc3.12942.
Klusek J, Porter A, Abbeduto L, Adayev T, Tassone F, Mailick M
Front Genet. 2018; 9:344.
PMID: 30197656
PMC: 6118037.
DOI: 10.3389/fgene.2018.00344.
Entezari A, Shekari Khaniani M, Bahrami T, Mansoori Derakhshan S, Darvish H
Neurol Sci. 2016; 38(1):123-128.
PMID: 27696273
DOI: 10.1007/s10072-016-2723-6.
A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population.
Lorefice L, Tranquilli S, Fenu G, Murru M, Frau J, Rolesu M
Neurol Sci. 2015; 36(12):2213-20.
PMID: 26194536
DOI: 10.1007/s10072-015-2339-2.
Fragile X spectrum disorders.
Lozano R, Rosero C, Hagerman R
Intractable Rare Dis Res. 2015; 3(4):134-46.
PMID: 25606363
PMC: 4298643.
DOI: 10.5582/irdr.2014.01022.
In the Gray Zone in the Fragile X Gene: What are the Key Unanswered Clinical and Biological Questions?.
Hall D
Tremor Other Hyperkinet Mov (N Y). 2014; 4:208.
PMID: 24932424
PMC: 4050171.
DOI: 10.7916/D8NG4NP3.
Advances in the genetics of Parkinson disease.
Trinh J, Farrer M
Nat Rev Neurol. 2013; 9(8):445-54.
PMID: 23857047
DOI: 10.1038/nrneurol.2013.132.
Unstable mutations in the FMR1 gene and the phenotypes.
Loesch D, Hagerman R
Adv Exp Med Biol. 2013; 769:78-114.
PMID: 23560306
PMC: 4124039.
DOI: 10.1007/978-1-4614-5434-2_6.
Current Gaps in Understanding the Molecular Basis of FXTAS.
Hagerman P
Tremor Other Hyperkinet Mov (N Y). 2013; 2.
PMID: 23440729
PMC: 3379894.
DOI: 10.7916/D80C4TH0.
Fragile x-associated tremor ataxia syndrome: the expanding clinical picture, pathophysiology, epidemiology, and update on treatment.
Hall D, OKeefe J
Tremor Other Hyperkinet Mov (N Y). 2013; 2.
PMID: 23439567
PMC: 3570061.
DOI: 10.7916/D8HD7TDS.
Identification of expanded alleles of the FMR1 gene among high-risk population in Indonesia by using blood spot screening.
Winarni T, Utari A, Mundhofir F, Tong T, Durbin-Johnson B, Faradz S
Genet Test Mol Biomarkers. 2011; 16(3):162-6.
PMID: 21988366
PMC: 3306584.
DOI: 10.1089/gtmb.2011.0089.
FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes.
Seixas A, Vale J, Jorge P, Marques I, Santos R, Alonso I
Behav Brain Funct. 2011; 7:19.
PMID: 21639881
PMC: 3120661.
DOI: 10.1186/1744-9081-7-19.
New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS).
Juncos J, Lazarus J, Graves-Allen E, Shubeck L, Rusin M, Novak G
Neurogenetics. 2011; 12(2):123-35.
PMID: 21279400
PMC: 3766636.
DOI: 10.1007/s10048-010-0270-5.
Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism.
Loesch D, Godler D, Evans A, Bui Q, Gehling F, Kotschet K
Genet Med. 2011; 13(5):392-9.
PMID: 21270637
PMC: 4022481.
DOI: 10.1097/GIM.0b013e3182064362.
Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism.
Loesch D, Khaniani M, Slater H, Rubio J, Bui Q, Kotschet K
Clin Genet. 2009; 76(5):471-6.
PMID: 19796183
PMC: 2888465.
DOI: 10.1111/j.1399-0004.2009.01275.x.
Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease.
Hall D, Howard K, Hagerman R, Leehey M
Parkinsonism Relat Disord. 2008; 15(2):156-9.
PMID: 18565783
PMC: 2685192.
DOI: 10.1016/j.parkreldis.2008.04.037.
Size bias of fragile X premutation alleles in late-onset movement disorders.
Jacquemont S, Leehey M, Hagerman R, Beckett L, Hagerman P
J Med Genet. 2006; 43(10):804-9.
PMID: 16723388
PMC: 2563171.
DOI: 10.1136/jmg.2006.042374.
FXTAS: a progressive neurologic syndrome associated with Fragile X premutation.
Willemsen R, Mientjes E, Oostra B
Curr Neurol Neurosci Rep. 2005; 5(5):405-10.
PMID: 16131424
DOI: 10.1007/s11910-005-0065-5.