Results 231 to 240 of about 225,713 (333)

Impact of brief telehealth interventions on parental stress and challenging behaviors of children with fragile X syndrome. [PDF]

Orphanet J Rare Dis
Miranda MF, Faundes V, Alliende MA, Santa María L.   +3 more
europepmc   +1 more source

An Autopsy Case With Fragile X‐Associated Tremor/Ataxia Syndrome Presenting Intranuclear Inclusion Bodies Mainly in the Limbic System

Neuropathology, Volume 46, Issue 2, April 2026.
ABSTRACT Fragile X‐associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder characterized by a late onset and slow progression caused by a premutation (55–200 CGG repeat) in the fragile X mental retardation (FMR1) gene. Here, we report the case of a Japanese patient with FXTAS which is the first case autopsied in Japan. The patient was
Ayako Shioya, Kazuhiro Ishii, Taiki Sato, Masayuki Noguchi, Akira Tamaoka, Yuko Saito   +5 more
wiley   +1 more source

Divergent aperiodic slope and alpha dynamics expose cortical excitability gradients in fragile X syndrome. [PDF]

Mol Autism
Elmaghraby R, Liu Y, Ramesh P, Westerkamp G, Nelson MA, Larsh T, Smith E, Gilbert DL, Wu SW, Erickson CA, Pedapati EV.   +10 more
europepmc   +1 more source

Dysbiosis in the Gut‐Liver Axis Is Associated With Low Bone Mass During Murine Cholestasis

The FASEB Journal, Volume 40, Issue 6, 31 March 2026.
Dysbiosis in the gut‐liver axis drives a dysregulation in bile acid metabolism that increases bile acid efflux into systemic circulation and the bone marrow. Bile acid signaling in the marrow promotes osteoclastogenesis and suppresses osteoblastogenesis, which drives bone loss during cholestatic liver disease in mice. ABSTRACT The gut‐liver axis is the
Brooke Hutchison, Jamie Fornsaglio, Ridgeway Case IV, Pam Cornuet, Fu‐Ying Qin, Xiaochao Ma, Kari Nejak‐Bowen, Matthew D. Carson   +7 more
wiley   +1 more source

Elevated somatostatin interneuron long-term potentiation minimally regulates temporoammonic plasticity in a mouse model of Fragile X Syndrome. [PDF]

Front Pharmacol
Wilson MA, Sumera A, Berk E, Booker SA.
europepmc   +1 more source

Targeting Expanded CUG and CTG Repeats as a Therapeutic Approach for Myotonic Dystrophy Type 1 (DM1)

ChemMedChem, Volume 21, Issue 5, 13 March 2026.
DM1 is an RNA gain‐of‐function disease caused by CTG repeat expansion, producing toxic r(CUG)exp RNA that sequesters MBNL1 and impairs splicing. This review covers the field of CUG and CTG ligands identified or rationally designed as DM1 drug candidates, highlighting their molecular design, RNA‐ or DNA‐binding modes, in vitro affinities and ...
Camille Richagneux, Anton Granzhan
wiley   +1 more source

Astrocytic Contributions to Synaptic and Learning Abnormalities in a Mouse Model of Fragile X Syndrome.

Biological Psychiatry, 2017
J. Hodges, Xinzhu Yu, Anthony Gilmore, Hannah C. Bennett, Michelle Tjia, James Perna, Chia‐Chien Chen, Xiang Li, Ju Lu, Yi Zuo   +9 more
semanticscholar   +1 more source

An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic

Annals of Clinical and Translational Neurology, Volume 13, Issue 3, Page 607-611, March 2026.
ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco, Caterina Motta, Enrica Marchionni, Maria Rosaria D'Apice, Carlangelo Carrese, Giuseppe Novelli, Alessandro Martorana, Chiara Giuseppina Bonomi   +7 more
wiley   +1 more source

Altered auditory feature discrimination in a rat model of Fragile X Syndrome. [PDF]

PLoS Biol
Gauthier DW, James N, Auerbach BD.
europepmc   +1 more source

A Smart Bio‐Battery Facilitates Diabetic Bone Defect Repair Via Inducing Macrophage Reprogramming and Synergistically Modulating Bone Remodeling Coupling

Advanced Functional Materials, Volume 36, Issue 24, 23 March 2026.
This research presents a novel implantable bio‐battery, GF‐OsG, tailored for diabetic bone repair. GF‐OsG generates microcurrents in high‐glucose conditions to enhance vascularization, shift macrophages to the M2 phenotype, and regulate immune responses.
Nanning Lv, Haifu Sun, Wenxiang Tang, Yonggang Li, Zhonglai Qian, Lihui Hong, Chong Chen, Hongye Li, Jiaxiang Bai, Yusen Qiao, Mingming Liu   +10 more
wiley   +1 more source