Results 201 to 210 of about 7,289,232 (294)

Mis-spliced FMR1 transcripts in human fragile X syndrome neural progenitors and neurons. [PDF]

J Neurodev Disord
Hourani SM, Utami KH, Oh SL, Castrén ML, Pouladi MA.   +4 more
europepmc   +1 more source

Sleep health of adults with cerebral palsy: A systematic review

Developmental Medicine &Child Neurology, Volume 68, Issue 12, Page 1645-1656, December 2026.
Although many people with cerebral palsy (CP) are adults, most sleep research in CP focuses on children. As poor sleep can affect pain, mood, energy, daily functioning, and quality of life we reviewed what is currently known about the sleep health of adults with CP. We searched three major research databases (MEDLINE, Embase, and CINAHL) up to February
Deepika Nagabhushan, Caleb Kim, Daniel G. Whitney, Rita Ayyangar, Angeline Bowman, Sonia Sharma, Maxwell S. Barnish, Daniel Whibley   +7 more
wiley   +1 more source

Unraveling the Individualized Shared and Distinct Dynamic Functional Connectivity in Idiopathic Autism Spectrum Disorder and Fragile X Syndrome. [PDF]

CNS Neurosci Ther
Pan B, Wang J, Feng D, Zhu Y, Tang N, Li D, Xu Q, Li R.   +7 more
europepmc   +1 more source

AI‐Enabled Automated Schistocyte Classification in Peripheral Blood for TMA Auxiliary Diagnosis

International Journal of Laboratory Hematology, Volume 48, Issue 6, Page 1486-1493, December 2026.
ABSTRACT Background Schistocytes are critical morphological markers for thrombotic microangiopathy (TMA) diagnosis. Manual identification is hampered by inconsistent standards and high interobserver variability, compromising accuracy. Although AI has advanced in hematology, AI‐enabled schistocyte classification remains under‐studied, creating a ...
Lei Shang, Chao Fang, Dongshuo Li, Xuesong Wang, Jiani Yu, Yunchu Cui, Jingliang Chen, Xuekai Liu   +7 more
wiley   +1 more source

European Consortium for Lipodystrophies consensus definition and classification framework for monogenic lipodystrophy

Journal of Internal Medicine, Volume 300, Issue 6, Page 725-742, December 2026.
Abstract Lipodystrophy comprises a heterogeneous group of disorders characterized by reduced adipose tissue often associated with severe metabolic complications. Lipodystrophy may be genetic, acquired, or secondary to medical therapies initiated for other conditions.
Robert K. Semple, Martin Wabitsch, Baris Akinci, Saif Alyaarubi, Marjoleine F. Broekema, Rebecca J. Brown, Giovanni Ceccarini, Carolina Cecchetti, Solaf M. Elsayed, Antía Fernández‐Pombo, Alessandra Gambineri, Ingrid M. Jazet, Lotte Kleinendorst, Konstanze Miehle, Elif A. Oral, Flavia Prodam, Ferruccio Santini, David B. Savage, Nadia Shaukat Ali, Ekaterina Sorkina, Magdalena Szopa, Marie‐Christine Vantyghem, Camille Vatier, Corinne Vigouroux, Julia von Schnurbein, David Araújo‐Vilar   +25 more
wiley   +1 more source

Beyond Surface Performance: Analyzing Grammatical Production and Judgment Abilities in Boys With Fragile X Syndrome. [PDF]

Am J Speech Lang Pathol
Edgar TC, Schabes C, Elmquist M, Sterling A.   +3 more
europepmc   +1 more source

Microfluidic Nano‐Assembly of Red‐Blood‐Cell (RBC) Lipids and Components for Engineering Extracellular Vesicles

Advanced Healthcare Materials, Volume 15, Issue 41, 6 November 2026.
Engineered red blood cell‐derived extracellular vesicles (eRBCEVs) are synthesized via controlled microfluidic assembly from native RBC lipids, enabling tunable encapsulation of proteins, nucleic acids, nanoparticles, and viral vectors. The platform demonstrates reproducible nanoscale architecture, preserved membrane composition, and functional cargo ...
Chiranth K. Nagaraj, Xilal Y. Rima, Kim T. Nguyen, Courtney Culkins, Nana Boateng, Jacob Doon‐Ralls, Alejandro Bresolin, Xin Huang, Hong Li, Vahedi Amid, Ajeet Pal Singh, Dharti Shantaram, Anastasiia Amari, Mangesh D. Hade, Nicholas R. Merriam, Zachary D. Schultz, Scott Q. Harper, Nizar Y. Saad, Setty M. Magaña, Willa A. Hsueh, Rachel E. Kopec, Blaise R. Kimmel, Andre F. Palmer, Eduardo Reátegui   +23 more
wiley   +1 more source

Clinical Trial Designs for Rare Disorders: A Scoping Review of the Effectiveness of Pharmacologic Interventions in Fragile X Syndrome. [PDF]

Neurol Genet
Van Steenbergen A, Kaur M, Rubanarayana K, Bolduc F.   +3 more
europepmc   +1 more source

Dysregulation of the MACF1‐Rab14/KIF16B‐FGFR Vesicular Trafficking Axis Skews MSC Lineage Commitment in Glucocorticoid‐Induced Osteoporosis

Advanced Science, Volume 13, Issue 61, 3 November 2026.
Under normal conditions, MACF1 interacts with Rab14 and facilitates KIF16B‐mediated FGFR vesicle trafficking along microtubules to the plasma membrane, thereby supporting BMSC differentiation. In contrast, chronic GC exposure suppresses MACF1 expression, disrupting this transport and causing intracellular FGFR retention, which blunts osteogenic ...
Peihong Su, Ye Tian, Fan Zhao, Jing Li, Suryaji Patil, Chunyu Zhu, Yujia Tian, Junrong Wang, Jiating Liu, Aoqi Xiang, Hua Guan, Lusha Zhang, Xiaochang Chen, Airong Qian, Qi Yu   +14 more
wiley   +1 more source