Results 191 to 200 of about 1,133,300 (294)

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

A 30-year-old woman with progressive lower extremity sensory loss and weakness. [PDF]

Brain Pathol
Griepp DW, Lee CM, Turnbull JP, Ferris SP, Kelkar PS.   +4 more
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

The liver‐brain axis: A multidimensional regulatory network implicated in Alzheimer's disease pathogenesis and clinical implications

Animal Models and Experimental Medicine, EarlyView.
Schematic diagram of the core pathways of the liver‐brain axis in regulating AD. The liver regulates cerebral Aβ deposition, tau phosphorylation, and neuroinflammation through pathways such as metabolic detoxification (urea cycle, ketone body metabolism, glutathione antioxidant system), molecular secretion (APOE, CRP, FGF21, IGF‐1), and Aβ clearance ...
Ning Zhang, Wei Chen, Meng Wang
wiley   +1 more source

Differentiating Sciatica from Hip Osteoarthritis: Diagnostic Challenges and the Role of the Athena Sign. [PDF]

Diagnostics (Basel)
Sakellariou E, Argyropoulou E, Karampinas P, Pelantis P, Lianou I, Christakos D, Benetos I, Ioannis V, Kaspiris A, Vasiliadis E, Vlamis J, Pneumaticos S.   +11 more
europepmc   +1 more source

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato, John M. Hayes, Jacen Emerson, Maeha Sridharan, Toluwani Adelaja, Arsal Naeem, Alexandra F. Putka, Hayley S. McLoughlin   +7 more
wiley   +1 more source

Spinal Cord Anatomy for Visually Impaired Students: The Development of 3D-Printed Educational Models. [PDF]

J Undergrad Neurosci Educ
Ferreira RGF, Garcia GG, Fischer MAPCSG, Maia DM, Miranda LM, Lopes KC, Galvão EBB, Mesquita CT.   +7 more
europepmc   +1 more source

Growth Differentiation Factor 15 as a Cerebrospinal Fluid Biomarker for the Diagnosis and Prognosis of Leptomeningeal Metastasis

Annals of Neurology, EarlyView.
Objective As leptomeningeal metastasis (LM) has a poor prognosis, reliable cerebrospinal fluid (CSF) diagnostic biomarkers are urgently needed. This study evaluated the diagnostic value of CSF growth differentiation factor 15 (GDF15) in LM from lung adenocarcinoma (LUAD) and breast cancer (BC).
Haoyu Ruan, Jie Li, Fuhai Wang, Lei Zhang, Jie Luo, Yuan Mu, Ting Wang, Yuqing Wu, Jingping Liu, Yunyun Ning, Xuan Deng, Ming Guan, Jian Xu   +12 more
wiley   +1 more source

Piezoelectric Nanocomposite Hydrogel for Wireless Neural Stimulation and Tissue Augmentation

Advanced NanoBiomed Research, EarlyView.
A cell/tissue supporting piezoelectric hydrogel system (PZ‐gel) that incorporates ferroelectric, pyroelectric, and piezoelectric ceramic material barium titanate into an alginate/carboxymethyl chitosan hydrogel. The PZ‐gel can be sonoactivated for wireless neural cell and tissue stimulation, with the potential to be used as a stimulatory cell substrate
Mohammad Mohammadi, Eva Tomaskovic‐Crook, Peter C. Innis, Jeremy M. Crook   +3 more
wiley   +1 more source

Augmented reality to visualize nerve segmentation intraoperatively for endoscopic discectomy. [PDF]

Neurosurg Focus Video
Decker IE, Toussaint F, Boukhiam M, Hatfield J, Abd-El-Barr MM.   +4 more
europepmc   +1 more source