HuGE Literature Finder
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| Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome. Frontiers in aging neuroscience 2023 1 14 1073258. Elias-Mas Andrea, Potrony Miriam, Bague Jaume, Cutler David J, Alvarez-Mora Maria Isabel, Torres Teresa, Barcos Tamara, Puig-Butille Joan Anton, Rubio Marta, Madrigal Irene, Puig Susana, Allen Emily G, Rodriguez-Revenga La |
| FMR1 gene CGG repeat distribution among the three individual cohorts with intellectual disability, autism, and primary ovarian insufficiency from Tamil Nadu, Southern India. Advanced genetics (Hoboken, N.J.) 2023 1 2 (2): e10048. Nagarathinam Indhumathi, Chong Samuel S, B K Thelma, Justin Margret Jeffrey, Venkataraman Viswanathan, Natarajan Padmavathy Karthikeyen, Srisailapathy C R Srikuma |
| Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation. Scientific reports 2022 6 12 (1): 10419. Hwang Ye Hyun, Hayward Bruce Eliot, Zafarullah Marwa, Kumar Jay, Durbin Johnson Blythe, Holmans Peter, Usdin Karen, Tassone Flo |
| Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS). Journal of medical genetics 2021 Jul . Martin Ellenore M, Zhu Ying, Kraan Claudine M, Kumar Kishore R, Godler David E, Field Micha |
| 'Essential Tremor' Phenotype in FMR1 Premutation/Gray Zone Sibling Series: Exploring Possible Genetic Modifiers. Twin research and human genetics : the official journal of the International Society for Twin Studies 2021 3 24 (2): 95-102. Loesch Danuta Z, Duffy David L, Martin Nicholas G, Tassone Flora, Atkinson Anna, Storey Elsd |
| Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile X-Associated Tremor/Ataxia Syndrome. Cerebellum (London, England) 2021 5 21 (1): 86-98. Abbasi Diana A, Nguyen Thu T A, Hall Deborah A, Robertson-Dick Erin, Berry-Kravis Elizabeth, Cologna Stephanie |
| Metabolomic Biomarkers Are Associated With Area of the Pons in Fragile X Premutation Carriers at Risk for Developing FXTAS. Frontiers in psychiatry 2021 9 12 691717. Zafarullah Marwa, Durbin-Johnson Blythe, Fourie Emily S, Hessl David R, Rivera Susan M, Tassone Flo |
| Eye Movements in Fragile X-Associated Tremor/Ataxia Syndrome. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2020 Oct . Hall Deborah A, Leehey Maureen A, Hagerman Randi J, Pelak Victoria |
| FMR1 locus isoforms: potential biomarker candidates in fragile X-associated tremor/ataxia syndrome (FXTAS). Scientific reports 2020 Jul 10 (1): 11099. Zafarullah Marwa, Tang Hiu-Tung, Durbin-Johnson Blythe, Fourie Emily, Hessl David, Rivera Susan M, Tassone Flo |
| A study on the role of FMR1 CGG trinucleotide repeats in Jordanian poor ovarian responders. Gene 2020 10 767 145174. Batiha Osamah, Shaaban Sherin T, Al-Smadi Mohammad, Jarun Yousef, Maswadeh Ahmad, Alahmad Nour Alhoda, Al-Talib Mohammad |
| Assessment of FMR1 triplet repeats in patients affected with mental retardation, fragile X syndrome and primary ovarian insufficiency. Journal of genetics 2020 2 99 . Salimy Zeinab, Akbari Mohammad Taghi, Deilamani Faravareh Khordadpo |
| Quantification of Neural Activity in FMR1 Premutation Carriers during a Dynamic Sway Task using Source Localization. Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference 2020 10 2020 2909-2912. Gaul Alan, O'Keeffe Clodagh, Dominguez Manuel Carro, O'Rourke Eugene, Reilly Richard |
| Role of mitochondrial DNA variants in the development of fragile X-associated tremor/ataxia syndrome. Mitochondrion 2020 3 52 157-162. Alvarez-Mora Maria Isabel, Santos Cristina, Carreño-Gago Lidia, Madrigal Irene, Tejada Maria Isabel, Martinez Francisco, Izquierdo-Alvarez Silvia, Garcia-Arumi Elena, Mila Montserrat, Rodriguez-Revenga La |
| Study of telomere length in men who carry a fragile X premutation or full mutation allele. Human genetics 2020 6 139 (12): 1531-1539. Albizua Igor, Chopra Pankaj, Allen Emily G, He Weiya, Amin Ashima S, Sherman Stephanie |
| Functional motor control deficits in older FMR1 premutation carriers. Experimental brain research 2019 6 237 (9): 2269-2278. Park Seoung Hoon, Wang Zheng, McKinney Walker, Khemani Pravin, Lui Su, Christou Evangelos A, Mosconi Matthew |
| Clinical implication of FMR1 intermediate alleles in a Spanish population. Clinical genetics 2018 Mar . Alvarez-Mora M I, Madrigal I, Martinez F, Tejada M-I, Izquierdo-Alvarez S, Sanchez-Villar de Saz P, Caro-Llopis A, Villate O, Rodríguez-Santiago B, Pérez Jurado L A, Rodriguez-Revenga L, Milà |
| Reduced caudate volume and cognitive slowing in men at risk of fragile X-associated tremor ataxia syndrome. Brain imaging and behavior 2018 7 13 (4): 1128-1134. Cvejic Rachael C, Hocking Darren R, Wen Wei, Georgiou-Karistianis Nellie, Cornish Kim M, Godler David E, Rogers Carolyn, Trollor Julian |
| Tremor-Ataxia syndrome and primary ovarian insufficiency in an null premutation carrier. Colombia medica (Cali, Colombia) 2018 1 48 (3): 148-151. Saldarriaga-Gil Wilmar, Rodriguez-Guerrero Tatiana, Fandiño-Losada Andres, Ramirez-Cheyne Juli |
| White matter microstructure, cognition, and molecular markers in fragile X premutation females. Neurology 2017 5 88 (22): 2080-2088. Shelton Annie L, Cornish Kim M, Godler David, Bui Quang Minh, Kolbe Scott, Fielding Joan |
| Screening for intermediate CGG alleles of FMR1 gene in male Iranian patients with Parkinsonism. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2016 Oct . Entezari Atefeh, Khaniani Mahmoud Shekari, Bahrami Tayyeb, Derakhshan Sima Mansoori, Darvish Hosse |
| ß-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles. Scientific reports 2016 6 29366. Kraan C M, Cornish K M, Bui Q M, Li X, Slater H R, Godler D |
| Skewed X Inactivation in Women Carrying the FMR1 Premutation and Its Relation with Fragile-X-Associated Tremor/Ataxia Syndrome. Neuro-degenerative diseases 2015 Nov . Alvarez-Mora Maria Isabel, Rodriguez-Revenga Laia, Feliu Aina, Badenas Celia, Madrigal Irene, Milà Montserr |
| A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2015 Jul . Lorefice L, Tranquilli S, Fenu G, Murru M R, Frau J, Rolesu M, Coghe G C, Marrosu F, Marrosu M G, Cocco |
| Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). Cerebellum (London, England) 2015 Mar . O'Keefe Joan A, Robertson-Dick Erin, Dunn Emily J, Li Yan, Deng Youping, Fiutko Amber N, Berry-Kravis Elizabeth, Hall Deborah |
| FMR1 gene mutation screening by TP-PCR in patients with premature ovarian failure and fragile-X. Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2015 Mar 31 (3): 191-5. Tural Sengul, Tekcan Ak?n, Kara Nurten, Elbistan Mehmet, Güven Davut, Ali Tasdemir Hayd |
| Temporal dynamics of attentional selection in adult male carriers of the fragile X premutation allele and adult controls. Frontiers in human neuroscience 2015 9 37. Wong Ling M, Tassone Flora, Rivera Susan M, Simon Tony |
| Investigation of memory, executive functions, and anatomic correlates in asymptomatic FMR1 premutation carriers. Neurobiology of aging 2014 Aug 35 (8): 1939-46. Hippolyte Loyse, Battistella Giovanni, Perrin Aline G, Fornari Eleonora, Cornish Kim M, Beckmann Jacques S, Niederhauser Julien, Vingerhoets François J G, Draganski Bogdan, Maeder Philippe, Jacquemont Sébasti |
| Genomic studies in fragile X premutation carriers. Journal of neurodevelopmental disorders 2014 6 (1): 27. Lozano Reymundo, Hagerman Randi J, Duyzend Michael, Budimirovic Dejan B, Eichler Evan E, Tassone Flo |
| Altered neural activity of magnitude estimation processing in adults with the fragile X premutation. Journal of psychiatric research 2013 Dec 47 (12): 1909-16. Kim So-Yeon, Hashimoto Ryu-ichiro, Tassone Flora, Simon Tony J, Rivera Susan |
| Fragile X-associated tremor/ataxia syndrome: influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles. JAMA neurology 2013 Aug 70 (8): 1022-9. Wang Jun Yi, Hessl David, Schneider Andrea, Tassone Flora, Hagerman Randi J, Rivera Susan |
- Page last reviewed:Feb 1, 2023
- Page last updated:Mar 31, 2023
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