Results 201 to 210 of about 1,622,414 (348)

P024 A rare manifestation of a common disease [PDF]

Ed Wheatley, Sophie Langdon, Clare Chown, Jasper Mogg   +3 more
openalex   +1 more source

Predicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu, Qi Wang, Suhui Kuang, Dezhi Cao, Ping Ding, Shaohui Zhang, Haihua Wei, Zhirong Wei, Jinshan Xu, Xinyu Huang, Bing Liu, Shuli Liang   +11 more
wiley   +1 more source

Enhancing diagnostic precision for rare diseases using case-based reasoning. [PDF]

J Am Med Inform Assoc
Noll R, Berger A, Facchinello C, Stratmann K, Schaaf J, Storf H.   +5 more
europepmc   +1 more source

Toward Continuous Neurocognitive Monitoring: Integrating Speech AI with Relational Graph Transformers for Rare Neurological Diseases [PDF]

Raquel Norel, Michele Merler, Parth Daxesh Modi   +2 more
openalex   +1 more source

Children with Rare Diseases

, 2023
Wenxiao Ji, Ning Wang, Zhiye Li, Haolong Li   +3 more
openalex   +2 more sources

Life‐Threatening Bradycardia in Anti‐NMDA‐Receptor Encephalitis and a Novel Use for Permanent Pacing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Pediatric anti‐NMDA receptor encephalitis (pNMDARE) is an autoantibody‐mediated disorder that can cause severe autonomic dysfunction, including symptomatic bradycardia and asystole. Dysautonomia can last for years, making it very challenging to manage.
Sarah Tucker, Abhijit Das, Andres Jimenez, Areeba Basit, Yike Jiang, Emily A. Smitherman, Heather Van Mater, Taylor Howard, Alexander J. Sandweiss, Kristen S. Fisher   +9 more
wiley   +1 more source

Trial Readiness: Understanding the Natural History of Rare Diseases. [PDF]

J Inherit Metab Dis
Opladen T, Mütze U, Gleich F, Garbade SF, Kuseyri Hübschmann O, Zielonka M, Kölker S.   +6 more
europepmc   +1 more source

Breaking barriers in rare disease research: The RARE-X Open Science Data Challenge as a model for collaborative innovation and community partnership

Karmen M Trzupek, Ravi Bhargava, C.H. Kuan, Fanny Sie, Vanessa Vogel‐Farley, Kim Hobbs, Verena Chung, María Díaz, Charlene Son-Rigby, Joseph Geraci, Jacob Albrecht   +10 more
openalex   +1 more source

In‐Depth Profiling Highlights the Effect of Efgartigimod on Peripheral Innate and Adaptive Immune Cells in Myasthenia Gravis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is an autoimmune disorder characterized by antibody‐mediated complement activation. Efgartigimod, a neonatal Fc receptor (FcRn) antagonist, is approved for treating generalized MG (gMG). However, its modulatory effects on upstream innate and adaptive immune cells remain largely unexplored.
Lei Jin, Liu Dong, Ying Wang, Dingxian He, Chong Yan, Jianying Xi, Haoqin Jiang, Yu Shi, Ming Guan, Chongbo Zhao, Jie Song, Sushan Luo   +11 more
wiley   +1 more source

The involvement of underrepresented countries in the European rare diseases research alliance: Morocco's assets. [PDF]

Orphanet J Rare Dis
Fdil N.
europepmc   +1 more source