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Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation
Domniz, Noam, Levavi, Liat Ries, Berkenstadt, Michal, Pras, Elon, Cohen, Yoram, Raanani, Hila, Goldstein, Dana Brabbing, Yaron, Yuval, Elizur, Shai, Ben-Shachar, Shay
Published in Genetics in medicine (01.06.2021)
Published in Genetics in medicine (01.06.2021)
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Journal Article
Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
O’Keefe, Joan A., Robertson-Dick, Erin, Dunn, Emily J., Li, Yan, Deng, Youping, Fiutko, Amber N., Berry-Kravis, Elizabeth, Hall, Deborah A.
Published in Cerebellum (London, England) (01.12.2015)
Published in Cerebellum (London, England) (01.12.2015)
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Journal Article
Cognitive function impacts gait, functional mobility and falls in fragile X-associated tremor/ataxia syndrome
O’Keefe, Joan A., Robertson, Erin E., Ouyang, Bichun, Carns, Danielle, McAsey, Andrew, Liu, Yuanqing, Swanson, Maija, Bernard, Bryan, Berry-Kravis, Elizabeth, Hall, Deborah A.
Published in Gait & posture (01.10.2018)
Published in Gait & posture (01.10.2018)
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Journal Article
Dysregulated iron metabolism in the choroid plexus in fragile X-associated tremor/ataxia syndrome
Ariza, Jeanelle, Steward, Craig, Rueckert, Flora, Widdison, Matt, Coffman, Robert, Afjei, Atiyeh, Noctor, Stephen C, Hagerman, Randi, Hagerman, Paul, Martínez-Cerdeño, Verónica
Published in Brain research (19.02.2015)
Published in Brain research (19.02.2015)
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Journal Article
Face recognition and emotion perception in boys with fragile-X syndrome
Bouras, N., Turk, J., Cornish, K.
Published in Journal of intellectual disability research (01.12.1998)
Published in Journal of intellectual disability research (01.12.1998)
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Journal Article
Brain Atrophy and White Matter Damage Linked to Peripheral Bioenergetic Deficits in the Neurodegenerative Disease FXTAS
Wang, Jun, Napoli, Eleonora, Kim, Kyoungmi, McLennan, Yingratana, Hagerman, Randi, Giulivi, Cecilia
Published in International journal of molecular sciences (25.08.2021)
Published in International journal of molecular sciences (25.08.2021)
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Journal Article
Immune Dysregulation as a Cause of Autoinflammation in Fragile X Premutation Carriers: Link between FMRI CGG Repeat Number and Decreased Cytokine Responses
Careaga, Milo, Rose, Destanie, Tassone, Flora, Berman, Robert F., Hagerman, Randi, Ashwood, Paul
Published in PloS one (01.04.2014)
Published in PloS one (01.04.2014)
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Journal Article
Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities
Mangano, Giuseppe Donato, Fontana, Antonina, Salpietro, Vincenzo, Antona, Vincenzo, Mangano, Giuseppa Renata, Nardello, Rosaria
Published in European journal of medical genetics (01.03.2022)
Published in European journal of medical genetics (01.03.2022)
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Journal Article
Fragile X-Associated Neuropsychiatric Disorders (FXAND) in Young Fragile X Premutation Carriers
Aishworiya, Ramkumar, Protic, Dragana, Tang, Si Jie, Schneider, Andrea, Tassone, Flora, Hagerman, Randi
Published in Genes (17.12.2022)
Published in Genes (17.12.2022)
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Journal Article
Effects of Fmr1 Gene Mutations on Sex Differences in Autism-Like Behavior and Dendritic Spine Development in Mice and Transcriptomic Studies
Wang, Zhao, Qiao, Dan, Chen, Huan, Zhang, Shihua, Zhang, Bohan, Zhang, Jingbao, Hu, Xiangting, Wang, Chang, Cui, Huixian, Wang, Xia, Li, Sha
Published in Neuroscience (01.12.2023)
Published in Neuroscience (01.12.2023)
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Journal Article
Frequency of FMR1 gene mutation and CGG repeat polymorphism in intellectually disabled children in Pakistan
Fatima, Tasneem, Zaidi, Syed Aley Hasan, Sarfraz, Noorjehan, Perween, Siddiqa, Khurshid, Faraz, Imtiaz, Fauzia
Published in American journal of medical genetics. Part A (01.05.2014)
Published in American journal of medical genetics. Part A (01.05.2014)
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Journal Article
Reduced RNA expression of the FMR1 gene in women with low (CGGn<26) repeats
Wang, Qi, Barad, David H., Darmon, Sarah K., Kushnir, Vitaly A., Wu, Yan-Guang, Lazzaroni-Tealdi, Emanuela, Zhang, Lin, Albertini, David F., Gleicher, Norbert
Published in PloS one (21.12.2018)
Published in PloS one (21.12.2018)
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Journal Article