Results 41 to 50 of about 2,226 (164)

Erratum: Emerging topics in FXTAS [PDF]

Journal of Neurodevelopmental Disorders, 2015
The online version of the original article can be found under doi:10.1186/1866-1955-6-31. Authors’ contributions DH: manuscript planning, drafting of initial manuscript, final manuscript editing and submission. EBK: drafting of initial manuscript, final manuscript editing. RH: drafting of initial and final manuscript editing.
Hall, Deborah A, Birch, Rachael C, Anheim, Mathieu, Jønch, Aia E, Pintado, Elizabeth, O’Keefe, Joan A, Trollor, Julian N, Stebbins, Glenn T, Hagerman, Randi J, Fahn, Stanley, Berry-Kravis, Elizabeth, Leehey, Maureen A   +11 more
openaire   +3 more sources

Allopregnanolone Improves Locomotor Activity and Arousal in the Aged CGG Knock-in Mouse Model of Fragile X-Associated Tremor/Ataxia Syndrome

Frontiers in Neuroscience, 2021
Carriers of the fragile X premutation (PM) can develop a variety of early neurological symptoms, including depression, anxiety and cognitive impairment as well as being at risk for developing the late-onset fragile X-associated tremor/ataxia syndrome ...
Jared J. Schwartzer, Dolores Garcia-Arocena, Amanda Jamal, Ali Izadi, Rob Willemsen, Robert F. Berman, Robert F. Berman   +6 more
doaj   +1 more source

Potential Prodromal Digital Postural Sway Markers for Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Detected via Dual-Tasking and Sensory Manipulation

Sensors
FXTAS is a neurodegenerative disorder occurring in some Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene premutation carriers (PMCs) and is characterized by cerebellar ataxia, tremor, and cognitive deficits that negatively impact balance and gait and ...
Emily C. Timm, Nicollette L. Purcell, Bichun Ouyang, Elizabeth Berry-Kravis, Deborah A. Hall, Joan Ann O’Keefe   +5 more
doaj   +1 more source

Fragile X Premutation: Medications, Therapy and Lifestyle Advice

Pharmacogenomics and Personalized Medicine, 2021
Deepika Kour Sodhi,1 Randi Hagerman1,2 1The MIND Institute, University of California Davis Health, Sacramento, CA, USA; 2Department of Pediatrics, University of California Davis Health, Sacramento, CA, USACorrespondence: Randi HagermanUC Davis MIND ...
Sodhi DK, Hagerman R
doaj  

Neuropathology of RAN translation proteins in fragile X-associated tremor/ataxia syndrome

Acta Neuropathologica Communications, 2019
CGG repeat expansions in FMR1 cause the neurodegenerative disorder Fragile X-associated Tremor/Ataxia Syndrome (FXTAS). Ubiquitinated neuronal intranuclear inclusions (NIIs) are the neuropathological hallmark of FXTAS.
Amy Krans, Geena Skariah, Yuan Zhang, Bryana Bayly, Peter K. Todd   +4 more
doaj   +1 more source

Structural Polymorphism of polyG Inclusions Revealed by In Situ Cryo‐Electron Tomography

Advanced Science, Volume 13, Issue 56, 9 October 2026.
Correlative cryo‐electron tomography in primary cortical neurons and NIID mouse brain tissue reveals that polyG inclusions are interconnected ribbon‐like assemblies rather than canonical amyloid fibrils. Multiple compartment‐specific ribbon states show distinct 26S proteasome accessibility, while cytoplasmic ribbons contact and deform ER‐like ...
Yunwen Qian, Yalan Wan, Chen Chen, Xiaoyu Zheng, Wenjing Du, Junhan Yang, Zhihao Quan, Biyu Yang, Jiaxi Yu, Jie Zheng, Zhaoxia Wang, Jianwen Deng, Qiang Guo   +12 more
wiley   +1 more source

Language use predicts symptoms of fragile X-associated tremor/ataxia syndrome in men and women with the FMR1 premutation

Scientific Reports
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an age-related neurodegenerative disorder caused by a premutation of the FMR1 gene on the X chromosome.
Nell Maltman, Audra Sterling, Ellery Santos, Randi Hagerman   +3 more
doaj   +1 more source

Unraveling in vitro phase separation and aggregation properties of the structured region of FMRP and the impact of Fragile X syndrome‐linked mutations

The FEBS Journal, Volume 293, Issue 20, Page 6155-6175, October 2026.
Fragile X messenger ribonucleoprotein 1 (FMRP) is a multidomain RNA‐binding protein associated with Fragile X Syndrome (FXS). We found that its N‐terminal structured region has an intrinsic propensity to undergo liquid–liquid phase separation and fibril formation. FXS‐associated mutations perturb protein stability and aggregation propensity, suggesting
Flavia Catalano, Alessandra Bigi, Francesca Troilo, Federica Gabriele, Gianluca Pistoia, Italia A. Asteriti, Francesco Angelucci, Giorgio Giardina, Fabrizio Chiti, Carlo Travaglini‐Allocatelli, Adele Di Matteo   +10 more
wiley   +1 more source

The effect of college degree attainment on neurodegenerative symptoms in genetically at-risk women

SSM: Population Health, 2022
Using longitudinal data, the present study examined the association between college degree attainment and the manifestation of neurodegenerative symptoms among women (n = 93) at elevated genetic risk.
Jinkuk Hong, Robert S. Dembo, Leann Smith DaWalt, Murray Brilliant, Elizabeth M. Berry-Kravis, Marsha Mailick   +5 more
doaj   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 6, Page 406-419, September 2026.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source