Results 191 to 200 of about 5,787,020 (354)

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston   +35 more
wiley   +1 more source

The complexity of dementia development and its comorbidities: The collaborative cross‐mouse population for multivarious tasks approach

open access: yesAnimal Models and Experimental Medicine, EarlyView.
The increasing prevalence of dementia and related neurodegenerative diseases—including Alzheimer's disease, Parkinson's disease, multiple sclerosis, and amyotrophic lateral sclerosis—poses a growing public health challenge. These conditions have traditionally been studied as isolated central nervous system disorders, but emerging evidence points to ...
Osayd Zohud   +3 more
wiley   +1 more source

From Diagnosis to Disease Staging: Multisite Validation of Cerebrospinal Fluid Molecular Tests in Multiple Sclerosis

open access: yesAnnals of Neurology, EarlyView.
Objective The growing demand for personalized treatment in multiple sclerosis (MS) highlights the need for more precise biomarkers that can outperform magnetic resonance imaging and clinical assessment in patient stratification. Advances in multiplex proteomic technologies suggest that cerebrospinal fluid (CSF) analysis at MS onset may not only improve
Laura Ghezzi   +10 more
wiley   +1 more source

Proteomic Characterization of Spinal Cord Myelin in the Mouse. [PDF]

open access: yesASN Neuro
Schmitt O   +5 more
europepmc   +1 more source

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