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Paul J Hagerman

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Articles 142
Citations 8153
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Recent Articles
1.
Randol J, Kim K, Ponzini M, Tassone F, Falcon A, Hagerman R, et al.
Genes (Basel) . 2024 Mar; 15(3). PMID: 38540415
Fragile X syndrome (FXS) is the most common heritable cause of intellectual disability and autism spectrum disorder. The syndrome is often caused by greatly reduced or absent protein expression from...
2.
Jiraanont P, Zafarullah M, Sulaiman N, Espinal G, Randol J, Durbin-Johnson B, et al.
J Mol Diagn . 2024 Mar; 26(6):498-509. PMID: 38522837
Fragile X syndrome (FXS) is the most common heritable form of intellectual disability and is caused by CGG repeat expansions exceeding 200 (full mutation). Such expansions lead to hypermethylation and...
3.
Hagerman R, Hagerman P
Annu Rev Pharmacol Toxicol . 2021 Sep; 62:365-381. PMID: 34499526
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and the leading single-gene form of autism spectrum disorder, encompassing cognitive, behavioral, and physical forms of clinical...
4.
Holm K, Herren A, Taylor S, Randol J, Kim K, Espinal G, et al.
Front Mol Biosci . 2021 May; 8:695407. PMID: 34055898
[This corrects the article DOI: 10.3389/fmolb.2020.600840.].
5.
Hagerman P, Hagerman R
Curr Biol . 2021 Mar; 31(6):R273-R275. PMID: 33756134
Paul Hagerman and Randi Hagerman introduce the X-linked neurodevelopmental disorder Fragile X syndrome (FXS) and discuss what causes this disorder and how it can be treated.
6.
Holm K, Herren A, Taylor S, Randol J, Kim K, Espinal G, et al.
Front Mol Biosci . 2021 Feb; 7:600840. PMID: 33585555
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder associated with premutation CGG-repeat expansions (55-200 repeats) in the 5' non-coding portion of the () gene. Core features of FXTAS...
7.
Ma L, Hagerman P
Biotechniques . 2020 Jun; 69(1):414-420. PMID: 32486839
Intranuclear inclusions present in the brains of patients with Fragile X-associated tremor/ataxia syndrome (FXTAS) have historically been difficult to study due to their location and scarcity. The recent finding that...
8.
Kim K, Hessl D, Randol J, Espinal G, Schneider A, Protic D, et al.
PLoS One . 2020 Jan; 14(12):e0226811. PMID: 31891607
Fragile X syndrome, the leading heritable form of intellectual disability, is caused by hypermethylation and transcriptional silencing of large (CGG) repeat expansions (> 200 repeats) in the 5' untranslated region...
9.
Ma L, Herren A, Espinal G, Randol J, McLaughlin B, Martinez-Cerdeno V, et al.
Acta Neuropathol Commun . 2019 Sep; 7(1):143. PMID: 31481131
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder associated with a premutation repeat expansion (55-200 CGG repeats) in the 5' noncoding region of the FMR1 gene. Solitary intranuclear inclusions...
10.
Wenzel H, Murray K, Haify S, Hunsaker M, Schwartzer J, Kim K, et al.
Acta Neuropathol Commun . 2019 Feb; 7(1):27. PMID: 30808398
The fragile X premutation is a CGG trinucleotide repeat expansion between 55 and 200 repeats in the 5'-untranslated region of the fragile X mental retardation 1 (FMR1) gene. Human carriers...