Results 261 to 270 of about 4,515,310 (313)
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study
ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons +33 more
wiley +1 more source
Differential diagnosis between furuncle and hidradenitis suppurativa.
Tripdatabase
openalex +1 more source
ABSTRACT Background Central nervous system (CNS) inflammatory demyelinating syndromes, including multiple sclerosis (MS), aquaporin‐4 antibody–positive neuromyelitis optica spectrum disorder (AQP4 + NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody–associated disease (MOGAD), occasionally overlap.
Bade Gulec +6 more
wiley +1 more source
Relapsed Waldenström macroglobulinemia presenting as bilateral parotid gland enlargement with multiple cystic lesions: A case report. [PDF]
Hung HY, Chang YC, Yen TY.
europepmc +1 more source
Difficulties in Differential Diagnosis of Rosai–Dorfman Disease: A Case Study
Anastasia Nikolaevna Smykova +3 more
openalex +2 more sources
ABSTRACT Background Cognitive impairment is a common non‐motor symptom in Multiple Sclerosis (MS), negatively affecting autonomy and Quality of Life (QoL). Innovative rehabilitation strategies, such as semi‐immersive virtual reality (VR) and computerized cognitive training (CCT), may offer advantages over traditional cognitive rehabilitation (TCR ...
Maria Grazia Maggio +8 more
wiley +1 more source
Giant Posterior Fossa Tuberculoma Mimicking Atypical Teratoid/Rhabdoid Tumor in a Child: Illustrative Case. [PDF]
Hela AH +7 more
europepmc +1 more source

